Incidental Mutation 'R1991:Col14a1'
| ID |
225241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col14a1
|
| Ensembl Gene |
ENSMUSG00000022371 |
| Gene Name |
collagen, type XIV, alpha 1 |
| Synonyms |
5730412L22Rik |
| MMRRC Submission |
040002-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1991 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
55171146-55384199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55313336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1320
(D1320V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023053]
[ENSMUST00000110217]
[ENSMUST00000110221]
|
| AlphaFold |
Q80X19 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023053
AA Change: D1323V
|
| SMART Domains |
Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: D1323V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
FN3
|
30 |
108 |
5.4e-7 |
SMART |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
VWA
|
157 |
336 |
9.5e-56 |
SMART |
|
FN3
|
354 |
434 |
3.82e-7 |
SMART |
|
FN3
|
444 |
522 |
3.1e-7 |
SMART |
|
FN3
|
536 |
613 |
5.07e-12 |
SMART |
|
FN3
|
625 |
704 |
3.1e-7 |
SMART |
|
FN3
|
736 |
818 |
6.2e-7 |
SMART |
|
FN3
|
830 |
909 |
1.45e-7 |
SMART |
|
FN3
|
920 |
999 |
3.59e0 |
SMART |
|
low complexity region
|
1010 |
1022 |
N/A |
INTRINSIC |
|
VWA
|
1031 |
1211 |
2.02e-59 |
SMART |
|
TSPN
|
1230 |
1425 |
1.19e-66 |
SMART |
|
Pfam:Collagen
|
1461 |
1515 |
2.9e-8 |
PFAM |
|
Pfam:Collagen
|
1513 |
1571 |
6.3e-9 |
PFAM |
|
Pfam:Collagen
|
1555 |
1615 |
8.5e-10 |
PFAM |
|
Pfam:Collagen
|
1653 |
1709 |
7.6e-10 |
PFAM |
|
Pfam:Collagen
|
1707 |
1762 |
2.6e-7 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000110217
AA Change: D1324V
|
| SMART Domains |
Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: D1324V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
FN3
|
30 |
108 |
5.4e-7 |
SMART |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
VWA
|
157 |
336 |
9.5e-56 |
SMART |
|
FN3
|
354 |
434 |
3.82e-7 |
SMART |
|
FN3
|
444 |
522 |
3.1e-7 |
SMART |
|
FN3
|
536 |
613 |
5.07e-12 |
SMART |
|
FN3
|
625 |
704 |
3.1e-7 |
SMART |
|
FN3
|
736 |
819 |
5.4e-7 |
SMART |
|
FN3
|
831 |
910 |
1.45e-7 |
SMART |
|
FN3
|
921 |
1000 |
3.59e0 |
SMART |
|
low complexity region
|
1011 |
1023 |
N/A |
INTRINSIC |
|
VWA
|
1032 |
1212 |
2.02e-59 |
SMART |
|
TSPN
|
1231 |
1426 |
1.19e-66 |
SMART |
|
Pfam:Collagen
|
1462 |
1516 |
2.5e-8 |
PFAM |
|
Pfam:Collagen
|
1514 |
1572 |
5.4e-9 |
PFAM |
|
Pfam:Collagen
|
1556 |
1616 |
7.3e-10 |
PFAM |
|
Pfam:Collagen
|
1654 |
1710 |
6.5e-10 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000110221
AA Change: D1320V
|
| SMART Domains |
Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: D1320V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
FN3
|
30 |
108 |
5.4e-7 |
SMART |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
VWA
|
157 |
336 |
9.5e-56 |
SMART |
|
FN3
|
354 |
434 |
3.82e-7 |
SMART |
|
FN3
|
444 |
522 |
3.1e-7 |
SMART |
|
FN3
|
536 |
613 |
5.07e-12 |
SMART |
|
FN3
|
625 |
704 |
3.1e-7 |
SMART |
|
FN3
|
736 |
815 |
7.12e-7 |
SMART |
|
FN3
|
827 |
906 |
1.45e-7 |
SMART |
|
FN3
|
917 |
996 |
3.59e0 |
SMART |
|
low complexity region
|
1007 |
1019 |
N/A |
INTRINSIC |
|
VWA
|
1028 |
1208 |
2.02e-59 |
SMART |
|
TSPN
|
1227 |
1422 |
1.19e-66 |
SMART |
|
Pfam:Collagen
|
1458 |
1512 |
8.2e-9 |
PFAM |
|
Pfam:Collagen
|
1510 |
1568 |
1.8e-9 |
PFAM |
|
Pfam:Collagen
|
1552 |
1612 |
2.4e-10 |
PFAM |
|
Pfam:Collagen
|
1650 |
1706 |
2.2e-10 |
PFAM |
|
Pfam:Collagen
|
1704 |
1759 |
7.5e-8 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125416
AA Change: D62V
|
| SMART Domains |
Protein: ENSMUSP00000122455
Gene: ENSMUSG00000022371
AA Change: D62V
| Domain | Start | End | E-Value | Type |
|---|
|
TSPN
|
2 |
165 |
2.04e-42 |
SMART |
|
Pfam:Collagen
|
201 |
255 |
2.1e-9 |
PFAM |
|
Pfam:Collagen
|
253 |
305 |
3.3e-9 |
PFAM |
|
Pfam:Collagen
|
295 |
355 |
4.4e-11 |
PFAM |
|
Pfam:Collagen
|
393 |
448 |
5.7e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.9128 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (124/124) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null mutation display abnormal tendon morphology and abnormal biomechanical properties of the skin and tendons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 123 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,771,419 (GRCm39) |
R203* |
probably null |
Het |
| Abcc2 |
A |
T |
19: 43,795,581 (GRCm39) |
I446F |
probably damaging |
Het |
| Afap1l2 |
A |
T |
19: 56,990,699 (GRCm39) |
I18N |
possibly damaging |
Het |
| Aida |
A |
T |
1: 183,094,627 (GRCm39) |
E107D |
probably benign |
Het |
| Amer2 |
A |
G |
14: 60,617,269 (GRCm39) |
Y362C |
probably damaging |
Het |
| Amigo1 |
T |
C |
3: 108,094,644 (GRCm39) |
S48P |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,187,561 (GRCm39) |
K50R |
possibly damaging |
Het |
| Anxa2 |
A |
T |
9: 69,391,098 (GRCm39) |
D95V |
probably damaging |
Het |
| Arhgap22 |
A |
G |
14: 33,088,916 (GRCm39) |
N466D |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,297,953 (GRCm39) |
Y575H |
probably damaging |
Het |
| Ascc2 |
A |
G |
11: 4,629,257 (GRCm39) |
E523G |
probably benign |
Het |
| B3galt5 |
A |
T |
16: 96,117,225 (GRCm39) |
K286M |
probably damaging |
Het |
| Bag3 |
C |
T |
7: 128,147,407 (GRCm39) |
H341Y |
probably benign |
Het |
| Blm |
G |
T |
7: 80,155,697 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
G |
A |
2: 24,622,318 (GRCm39) |
P222L |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,791,357 (GRCm39) |
Y175N |
possibly damaging |
Het |
| Cd81 |
G |
T |
7: 142,620,938 (GRCm39) |
G206* |
probably null |
Het |
| Cep290 |
T |
A |
10: 100,367,046 (GRCm39) |
S1132R |
possibly damaging |
Het |
| Cluh |
C |
A |
11: 74,550,355 (GRCm39) |
C222* |
probably null |
Het |
| Col18a1 |
T |
C |
10: 76,916,988 (GRCm39) |
I114V |
unknown |
Het |
| Cped1 |
A |
G |
6: 22,233,926 (GRCm39) |
T847A |
probably damaging |
Het |
| Cpne7 |
A |
G |
8: 123,854,176 (GRCm39) |
K288E |
possibly damaging |
Het |
| Cr2 |
G |
A |
1: 194,836,458 (GRCm39) |
P1278S |
possibly damaging |
Het |
| Creb3 |
C |
A |
4: 43,565,327 (GRCm39) |
R202S |
probably damaging |
Het |
| Cyp2j9 |
T |
A |
4: 96,460,201 (GRCm39) |
K434M |
probably damaging |
Het |
| Dnai3 |
G |
T |
3: 145,769,235 (GRCm39) |
T522K |
possibly damaging |
Het |
| Dpp10 |
A |
T |
1: 123,832,833 (GRCm39) |
V48E |
probably null |
Het |
| Dsg2 |
A |
G |
18: 20,734,530 (GRCm39) |
K836R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,229,339 (GRCm39) |
T1986A |
probably benign |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Ecm2 |
A |
G |
13: 49,683,732 (GRCm39) |
D570G |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,059,784 (GRCm39) |
C611* |
probably null |
Het |
| Epop |
T |
C |
11: 97,519,480 (GRCm39) |
T210A |
probably benign |
Het |
| Erc2 |
A |
G |
14: 27,733,593 (GRCm39) |
I556V |
probably benign |
Het |
| Fdxacb1 |
A |
T |
9: 50,682,946 (GRCm39) |
N101I |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,709,473 (GRCm39) |
S294G |
possibly damaging |
Het |
| Galnt16 |
A |
G |
12: 80,630,430 (GRCm39) |
D262G |
probably damaging |
Het |
| Gorab |
A |
G |
1: 163,224,625 (GRCm39) |
S59P |
probably damaging |
Het |
| Gpr161 |
G |
T |
1: 165,134,132 (GRCm39) |
M131I |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,759,202 (GRCm39) |
M270L |
probably benign |
Het |
| Grin3b |
C |
A |
10: 79,806,746 (GRCm39) |
Q5K |
probably benign |
Het |
| Grin3b |
C |
T |
10: 79,810,480 (GRCm39) |
A662V |
probably damaging |
Het |
| Gsdmc |
A |
G |
15: 63,673,748 (GRCm39) |
I179T |
probably benign |
Het |
| Gsdmc2 |
T |
A |
15: 63,700,086 (GRCm39) |
M229L |
probably benign |
Het |
| H2-Eb2 |
A |
G |
17: 34,553,278 (GRCm39) |
I155V |
probably benign |
Het |
| Hoga1 |
A |
C |
19: 42,048,459 (GRCm39) |
|
probably null |
Het |
| Hs3st5 |
A |
G |
10: 36,708,882 (GRCm39) |
Y139C |
probably damaging |
Het |
| Il10ra |
C |
A |
9: 45,167,109 (GRCm39) |
A481S |
probably benign |
Het |
| Ints2 |
T |
A |
11: 86,139,760 (GRCm39) |
H278L |
possibly damaging |
Het |
| Kalrn |
T |
G |
16: 33,796,108 (GRCm39) |
L1222F |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,516,480 (GRCm39) |
V157D |
probably damaging |
Het |
| Klk1b26 |
A |
T |
7: 43,666,324 (GRCm39) |
T256S |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,360,435 (GRCm39) |
Q184R |
probably benign |
Het |
| Lce1k |
A |
T |
3: 92,714,125 (GRCm39) |
C20S |
unknown |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lin54 |
A |
G |
5: 100,633,660 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,391,087 (GRCm39) |
E1446G |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,350,488 (GRCm39) |
S3792P |
probably damaging |
Het |
| Manba |
T |
A |
3: 135,256,952 (GRCm39) |
D538E |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,624,382 (GRCm39) |
E213* |
probably null |
Het |
| Mfap4 |
T |
C |
11: 61,376,633 (GRCm39) |
|
probably null |
Het |
| Muc21 |
A |
T |
17: 35,929,600 (GRCm39) |
S1529T |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,457,321 (GRCm39) |
I80F |
probably damaging |
Het |
| Nek4 |
A |
G |
14: 30,678,910 (GRCm39) |
I145V |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,795,407 (GRCm39) |
V230A |
probably benign |
Het |
| Nxf3 |
G |
A |
X: 134,976,583 (GRCm39) |
P380S |
possibly damaging |
Het |
| Or11h6 |
G |
A |
14: 50,880,323 (GRCm39) |
C195Y |
possibly damaging |
Het |
| Or1a1 |
T |
C |
11: 74,086,989 (GRCm39) |
V220A |
probably damaging |
Het |
| Or5b99 |
T |
C |
19: 12,976,866 (GRCm39) |
V172A |
possibly damaging |
Het |
| Or5p66 |
C |
A |
7: 107,885,566 (GRCm39) |
G256* |
probably null |
Het |
| Or6k8-ps1 |
C |
T |
1: 173,979,687 (GRCm39) |
H202Y |
probably damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,576,912 (GRCm39) |
T430I |
possibly damaging |
Het |
| Piezo2 |
A |
T |
18: 63,207,733 (GRCm39) |
L1426Q |
probably null |
Het |
| Pigk |
T |
A |
3: 152,450,131 (GRCm39) |
Y212N |
probably damaging |
Het |
| Pigm |
T |
G |
1: 172,204,828 (GRCm39) |
L188R |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,766,368 (GRCm39) |
F2117S |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,743 (GRCm39) |
F4055L |
probably damaging |
Het |
| Plk5 |
C |
T |
10: 80,198,936 (GRCm39) |
S435L |
possibly damaging |
Het |
| Pms1 |
G |
A |
1: 53,321,201 (GRCm39) |
L11F |
probably damaging |
Het |
| Prl3b1 |
C |
T |
13: 27,431,895 (GRCm39) |
T140I |
possibly damaging |
Het |
| Prl7a1 |
T |
G |
13: 27,817,655 (GRCm39) |
D203A |
probably damaging |
Het |
| Psg17 |
A |
G |
7: 18,548,577 (GRCm39) |
V398A |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,445,529 (GRCm39) |
I166K |
possibly damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,096,753 (GRCm39) |
D108E |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,174,358 (GRCm39) |
D1948E |
possibly damaging |
Het |
| Rnf112 |
C |
T |
11: 61,343,252 (GRCm39) |
R141Q |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,452,293 (GRCm39) |
V424A |
possibly damaging |
Het |
| Serpina3m |
C |
A |
12: 104,355,958 (GRCm39) |
Y208* |
probably null |
Het |
| Serpind1 |
T |
C |
16: 17,160,808 (GRCm39) |
V446A |
probably benign |
Het |
| Shc3 |
T |
A |
13: 51,596,872 (GRCm39) |
M384L |
probably benign |
Het |
| Slc38a11 |
A |
G |
2: 65,160,683 (GRCm39) |
F304L |
probably benign |
Het |
| Slpi |
C |
T |
2: 164,197,463 (GRCm39) |
C28Y |
probably damaging |
Het |
| Specc1 |
C |
A |
11: 61,920,120 (GRCm39) |
P7T |
possibly damaging |
Het |
| Spib |
T |
C |
7: 44,178,281 (GRCm39) |
E180G |
probably benign |
Het |
| Spint5 |
T |
C |
2: 164,558,903 (GRCm39) |
|
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,484,174 (GRCm39) |
|
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,560,715 (GRCm39) |
D387G |
probably benign |
Het |
| Tex14 |
T |
G |
11: 87,440,296 (GRCm39) |
L1367R |
probably damaging |
Het |
| Tfpi |
A |
C |
2: 84,288,360 (GRCm39) |
|
probably benign |
Het |
| Tlr5 |
T |
A |
1: 182,801,912 (GRCm39) |
D405E |
probably damaging |
Het |
| Tnnt3 |
C |
T |
7: 142,065,262 (GRCm39) |
R131C |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,890,878 (GRCm39) |
V407A |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,901,225 (GRCm39) |
Y1013C |
probably damaging |
Het |
| Tpx2 |
T |
A |
2: 152,732,544 (GRCm39) |
M606K |
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,079,437 (GRCm39) |
|
probably benign |
Het |
| Trim46 |
A |
T |
3: 89,145,008 (GRCm39) |
Y489N |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,773,648 (GRCm39) |
H380L |
probably benign |
Het |
| Tstd2 |
A |
G |
4: 46,120,563 (GRCm39) |
I279T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,776,735 (GRCm39) |
|
probably null |
Het |
| Txnl1 |
T |
C |
18: 63,812,585 (GRCm39) |
T70A |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,310,729 (GRCm39) |
|
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,822,531 (GRCm39) |
D615G |
probably benign |
Het |
| Virma |
T |
A |
4: 11,519,242 (GRCm39) |
C830S |
probably benign |
Het |
| Vmn1r7 |
A |
T |
6: 57,001,853 (GRCm39) |
S136T |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,994,305 (GRCm39) |
V448A |
probably damaging |
Het |
| Vps11 |
G |
A |
9: 44,270,524 (GRCm39) |
H183Y |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,116,892 (GRCm39) |
T476A |
possibly damaging |
Het |
| Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
| Wnt8a |
A |
G |
18: 34,677,937 (GRCm39) |
D115G |
probably damaging |
Het |
| Xndc1 |
T |
A |
7: 101,722,398 (GRCm39) |
V21E |
probably damaging |
Het |
| Zc3hav1 |
C |
A |
6: 38,313,452 (GRCm39) |
V198L |
probably damaging |
Het |
| Zfp874a |
T |
A |
13: 67,590,623 (GRCm39) |
I354F |
probably benign |
Het |
| Zfr2 |
A |
T |
10: 81,078,686 (GRCm39) |
D306V |
possibly damaging |
Het |
|
| Other mutations in Col14a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Col14a1
|
APN |
15 |
55,274,981 (GRCm39) |
missense |
unknown |
|
|
IGL01290:Col14a1
|
APN |
15 |
55,286,903 (GRCm39) |
missense |
unknown |
|
|
IGL01300:Col14a1
|
APN |
15 |
55,331,372 (GRCm39) |
missense |
unknown |
|
|
IGL01505:Col14a1
|
APN |
15 |
55,318,619 (GRCm39) |
missense |
unknown |
|
|
IGL01533:Col14a1
|
APN |
15 |
55,284,236 (GRCm39) |
missense |
unknown |
|
|
IGL01563:Col14a1
|
APN |
15 |
55,351,337 (GRCm39) |
missense |
unknown |
|
|
IGL01650:Col14a1
|
APN |
15 |
55,270,089 (GRCm39) |
missense |
unknown |
|
|
IGL01659:Col14a1
|
APN |
15 |
55,309,568 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01670:Col14a1
|
APN |
15 |
55,192,662 (GRCm39) |
missense |
unknown |
|
|
IGL01760:Col14a1
|
APN |
15 |
55,286,855 (GRCm39) |
missense |
unknown |
|
|
IGL01803:Col14a1
|
APN |
15 |
55,282,210 (GRCm39) |
missense |
unknown |
|
|
IGL01966:Col14a1
|
APN |
15 |
55,312,121 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01990:Col14a1
|
APN |
15 |
55,226,859 (GRCm39) |
missense |
unknown |
|
|
IGL02124:Col14a1
|
APN |
15 |
55,327,099 (GRCm39) |
missense |
unknown |
|
|
IGL02138:Col14a1
|
APN |
15 |
55,284,231 (GRCm39) |
missense |
unknown |
|
|
IGL02192:Col14a1
|
APN |
15 |
55,225,798 (GRCm39) |
missense |
unknown |
|
|
IGL02326:Col14a1
|
APN |
15 |
55,282,193 (GRCm39) |
missense |
unknown |
|
|
IGL02335:Col14a1
|
APN |
15 |
55,327,165 (GRCm39) |
splice site |
probably benign |
|
|
IGL02407:Col14a1
|
APN |
15 |
55,312,272 (GRCm39) |
splice site |
probably benign |
|
|
IGL02486:Col14a1
|
APN |
15 |
55,252,092 (GRCm39) |
splice site |
probably benign |
|
|
IGL02537:Col14a1
|
APN |
15 |
55,208,310 (GRCm39) |
nonsense |
probably null |
|
|
IGL02567:Col14a1
|
APN |
15 |
55,208,357 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02643:Col14a1
|
APN |
15 |
55,284,258 (GRCm39) |
missense |
unknown |
|
|
IGL02669:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
|
IGL02673:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
|
IGL02674:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
|
IGL03201:Col14a1
|
APN |
15 |
55,272,300 (GRCm39) |
missense |
unknown |
|
|
IGL03334:Col14a1
|
APN |
15 |
55,312,217 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03370:Col14a1
|
APN |
15 |
55,351,937 (GRCm39) |
splice site |
probably null |
|
|
IGL03385:Col14a1
|
APN |
15 |
55,273,600 (GRCm39) |
missense |
unknown |
|
|
IGL03385:Col14a1
|
APN |
15 |
55,335,104 (GRCm39) |
missense |
unknown |
|
|
PIT4131001:Col14a1
|
UTSW |
15 |
55,312,272 (GRCm39) |
splice site |
probably benign |
|
|
R0046:Col14a1
|
UTSW |
15 |
55,272,359 (GRCm39) |
splice site |
probably benign |
|
|
R0046:Col14a1
|
UTSW |
15 |
55,272,359 (GRCm39) |
splice site |
probably benign |
|
|
R0173:Col14a1
|
UTSW |
15 |
55,351,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Col14a1
|
UTSW |
15 |
55,360,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Col14a1
|
UTSW |
15 |
55,360,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Col14a1
|
UTSW |
15 |
55,271,264 (GRCm39) |
splice site |
probably benign |
|
|
R0391:Col14a1
|
UTSW |
15 |
55,309,655 (GRCm39) |
unclassified |
probably benign |
|
|
R0468:Col14a1
|
UTSW |
15 |
55,252,042 (GRCm39) |
missense |
unknown |
|
|
R0652:Col14a1
|
UTSW |
15 |
55,208,278 (GRCm39) |
missense |
unknown |
|
|
R0692:Col14a1
|
UTSW |
15 |
55,205,134 (GRCm39) |
missense |
unknown |
|
|
R0745:Col14a1
|
UTSW |
15 |
55,201,813 (GRCm39) |
missense |
unknown |
|
|
R1006:Col14a1
|
UTSW |
15 |
55,383,331 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1331:Col14a1
|
UTSW |
15 |
55,273,584 (GRCm39) |
missense |
unknown |
|
|
R1537:Col14a1
|
UTSW |
15 |
55,244,163 (GRCm39) |
missense |
unknown |
|
|
R1557:Col14a1
|
UTSW |
15 |
55,251,975 (GRCm39) |
missense |
unknown |
|
|
R1721:Col14a1
|
UTSW |
15 |
55,310,858 (GRCm39) |
unclassified |
probably benign |
|
|
R1737:Col14a1
|
UTSW |
15 |
55,208,357 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1837:Col14a1
|
UTSW |
15 |
55,245,891 (GRCm39) |
missense |
unknown |
|
|
R1867:Col14a1
|
UTSW |
15 |
55,310,858 (GRCm39) |
unclassified |
probably benign |
|
|
R1868:Col14a1
|
UTSW |
15 |
55,310,858 (GRCm39) |
unclassified |
probably benign |
|
|
R2020:Col14a1
|
UTSW |
15 |
55,309,577 (GRCm39) |
unclassified |
probably benign |
|
|
R2103:Col14a1
|
UTSW |
15 |
55,313,336 (GRCm39) |
missense |
unknown |
|
|
R2116:Col14a1
|
UTSW |
15 |
55,271,160 (GRCm39) |
missense |
unknown |
|
|
R2163:Col14a1
|
UTSW |
15 |
55,308,041 (GRCm39) |
unclassified |
probably benign |
|
|
R2207:Col14a1
|
UTSW |
15 |
55,327,082 (GRCm39) |
missense |
unknown |
|
|
R2215:Col14a1
|
UTSW |
15 |
55,244,238 (GRCm39) |
missense |
unknown |
|
|
R2264:Col14a1
|
UTSW |
15 |
55,330,086 (GRCm39) |
splice site |
probably null |
|
|
R2383:Col14a1
|
UTSW |
15 |
55,310,913 (GRCm39) |
unclassified |
probably benign |
|
|
R2397:Col14a1
|
UTSW |
15 |
55,201,835 (GRCm39) |
missense |
unknown |
|
|
R2422:Col14a1
|
UTSW |
15 |
55,313,318 (GRCm39) |
missense |
unknown |
|
|
R3793:Col14a1
|
UTSW |
15 |
55,226,909 (GRCm39) |
missense |
unknown |
|
|
R4082:Col14a1
|
UTSW |
15 |
55,300,429 (GRCm39) |
missense |
unknown |
|
|
R4112:Col14a1
|
UTSW |
15 |
55,226,955 (GRCm39) |
missense |
unknown |
|
|
R4519:Col14a1
|
UTSW |
15 |
55,251,975 (GRCm39) |
missense |
unknown |
|
|
R4628:Col14a1
|
UTSW |
15 |
55,313,229 (GRCm39) |
nonsense |
probably null |
|
|
R4692:Col14a1
|
UTSW |
15 |
55,286,864 (GRCm39) |
missense |
unknown |
|
|
R4696:Col14a1
|
UTSW |
15 |
55,235,998 (GRCm39) |
missense |
unknown |
|
|
R4749:Col14a1
|
UTSW |
15 |
55,315,732 (GRCm39) |
missense |
unknown |
|
|
R5324:Col14a1
|
UTSW |
15 |
55,201,841 (GRCm39) |
missense |
unknown |
|
|
R5382:Col14a1
|
UTSW |
15 |
55,225,832 (GRCm39) |
missense |
unknown |
|
|
R5634:Col14a1
|
UTSW |
15 |
55,381,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5781:Col14a1
|
UTSW |
15 |
55,286,908 (GRCm39) |
missense |
unknown |
|
|
R5828:Col14a1
|
UTSW |
15 |
55,300,372 (GRCm39) |
missense |
unknown |
|
|
R5873:Col14a1
|
UTSW |
15 |
55,309,182 (GRCm39) |
unclassified |
probably benign |
|
|
R5966:Col14a1
|
UTSW |
15 |
55,315,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6106:Col14a1
|
UTSW |
15 |
55,383,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Col14a1
|
UTSW |
15 |
55,244,246 (GRCm39) |
missense |
unknown |
|
|
R6319:Col14a1
|
UTSW |
15 |
55,379,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6475:Col14a1
|
UTSW |
15 |
55,309,218 (GRCm39) |
unclassified |
probably benign |
|
|
R6540:Col14a1
|
UTSW |
15 |
55,235,977 (GRCm39) |
missense |
unknown |
|
|
R6893:Col14a1
|
UTSW |
15 |
55,308,044 (GRCm39) |
unclassified |
probably benign |
|
|
R6992:Col14a1
|
UTSW |
15 |
55,274,958 (GRCm39) |
splice site |
probably null |
|
|
R7284:Col14a1
|
UTSW |
15 |
55,381,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7404:Col14a1
|
UTSW |
15 |
55,252,024 (GRCm39) |
nonsense |
probably null |
|
|
R7655:Col14a1
|
UTSW |
15 |
55,225,846 (GRCm39) |
missense |
unknown |
|
|
R7656:Col14a1
|
UTSW |
15 |
55,225,846 (GRCm39) |
missense |
unknown |
|
|
R7715:Col14a1
|
UTSW |
15 |
55,351,379 (GRCm39) |
missense |
unknown |
|
|
R7841:Col14a1
|
UTSW |
15 |
55,245,876 (GRCm39) |
missense |
unknown |
|
|
R7861:Col14a1
|
UTSW |
15 |
55,308,012 (GRCm39) |
missense |
unknown |
|
|
R7866:Col14a1
|
UTSW |
15 |
55,252,016 (GRCm39) |
missense |
unknown |
|
|
R7902:Col14a1
|
UTSW |
15 |
55,364,832 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8041:Col14a1
|
UTSW |
15 |
55,318,626 (GRCm39) |
missense |
unknown |
|
|
R8159:Col14a1
|
UTSW |
15 |
55,291,324 (GRCm39) |
missense |
unknown |
|
|
R8224:Col14a1
|
UTSW |
15 |
55,271,137 (GRCm39) |
missense |
unknown |
|
|
R8282:Col14a1
|
UTSW |
15 |
55,284,276 (GRCm39) |
missense |
unknown |
|
|
R8729:Col14a1
|
UTSW |
15 |
55,310,893 (GRCm39) |
nonsense |
probably null |
|
|
R8737:Col14a1
|
UTSW |
15 |
55,318,706 (GRCm39) |
nonsense |
probably null |
|
|
R8871:Col14a1
|
UTSW |
15 |
55,245,958 (GRCm39) |
missense |
unknown |
|
|
R9069:Col14a1
|
UTSW |
15 |
55,251,990 (GRCm39) |
missense |
unknown |
|
|
R9081:Col14a1
|
UTSW |
15 |
55,291,387 (GRCm39) |
missense |
unknown |
|
|
R9088:Col14a1
|
UTSW |
15 |
55,226,923 (GRCm39) |
missense |
unknown |
|
|
R9113:Col14a1
|
UTSW |
15 |
55,201,825 (GRCm39) |
missense |
unknown |
|
|
R9193:Col14a1
|
UTSW |
15 |
55,242,964 (GRCm39) |
missense |
unknown |
|
|
R9274:Col14a1
|
UTSW |
15 |
55,381,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9288:Col14a1
|
UTSW |
15 |
55,286,918 (GRCm39) |
missense |
unknown |
|
|
R9320:Col14a1
|
UTSW |
15 |
55,364,780 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9602:Col14a1
|
UTSW |
15 |
55,351,345 (GRCm39) |
missense |
unknown |
|
|
R9620:Col14a1
|
UTSW |
15 |
55,225,781 (GRCm39) |
missense |
unknown |
|
|
R9629:Col14a1
|
UTSW |
15 |
55,382,545 (GRCm39) |
missense |
|
|
|
X0023:Col14a1
|
UTSW |
15 |
55,286,843 (GRCm39) |
missense |
unknown |
|
|
X0063:Col14a1
|
UTSW |
15 |
55,273,611 (GRCm39) |
missense |
unknown |
|
|
Z1177:Col14a1
|
UTSW |
15 |
55,235,966 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAAGCACGAGACAGTG -3'
(R):5'- CCAATCAGGTGCTCAGGGAATG -3'
Sequencing Primer
(F):5'- AGTGAGGTGTTATTTTTATCCCACC -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation