Incidental Mutation 'R7286:Carmil1'
ID |
566040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Carmil1
|
Ensembl Gene |
ENSMUSG00000021338 |
Gene Name |
capping protein regulator and myosin 1 linker 1 |
Synonyms |
Carmil, Lrrc16a, 1110037D04Rik, Lrrc16 |
MMRRC Submission |
045394-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7286 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
24196327-24464778 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 24197377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 1353
(D1353A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072889]
[ENSMUST00000110398]
[ENSMUST00000125901]
|
AlphaFold |
Q6EDY6 |
PDB Structure |
Solution structure of the CARMIL CAH3a/b domain bound to capping protein (CP) [SOLUTION NMR]
Crystal structure of Actin Capping Protein in complex with the Cp-binding motif derived from CARMIL [X-RAY DIFFRACTION]
Crystal structure of Actin capping protein in complex with CARMIL fragment [X-RAY DIFFRACTION]
Crystal Structure of mouse CARMIL residues 1-668 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072889
AA Change: D1353A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000072662 Gene: ENSMUSG00000021338 AA Change: D1353A
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
LRR
|
245 |
272 |
2.42e1 |
SMART |
LRR
|
275 |
302 |
1.04e1 |
SMART |
LRR
|
304 |
331 |
3.1e0 |
SMART |
LRR
|
336 |
363 |
5.66e1 |
SMART |
Blast:LRR
|
423 |
450 |
9e-8 |
BLAST |
Blast:LRR
|
451 |
484 |
7e-9 |
BLAST |
LRR
|
574 |
601 |
8.81e-2 |
SMART |
Blast:LRR
|
602 |
629 |
6e-10 |
BLAST |
low complexity region
|
745 |
758 |
N/A |
INTRINSIC |
Pfam:CARMIL_C
|
790 |
1083 |
1.1e-101 |
PFAM |
low complexity region
|
1131 |
1147 |
N/A |
INTRINSIC |
low complexity region
|
1245 |
1251 |
N/A |
INTRINSIC |
low complexity region
|
1253 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1287 |
1296 |
N/A |
INTRINSIC |
low complexity region
|
1317 |
1332 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110398
|
SMART Domains |
Protein: ENSMUSP00000106028 Gene: ENSMUSG00000021338
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
LRR
|
245 |
272 |
2.42e1 |
SMART |
LRR
|
275 |
302 |
1.04e1 |
SMART |
LRR
|
304 |
331 |
3.1e0 |
SMART |
LRR
|
336 |
363 |
5.66e1 |
SMART |
Blast:LRR
|
423 |
450 |
9e-8 |
BLAST |
LRR
|
451 |
480 |
3.15e1 |
SMART |
Pfam:LRR_6
|
481 |
507 |
1.9e-2 |
PFAM |
LRR
|
570 |
597 |
8.81e-2 |
SMART |
Blast:LRR
|
598 |
625 |
6e-10 |
BLAST |
low complexity region
|
741 |
754 |
N/A |
INTRINSIC |
low complexity region
|
879 |
888 |
N/A |
INTRINSIC |
PDB:3LK3|T
|
964 |
1076 |
1e-56 |
PDB |
low complexity region
|
1127 |
1143 |
N/A |
INTRINSIC |
low complexity region
|
1241 |
1247 |
N/A |
INTRINSIC |
low complexity region
|
1249 |
1264 |
N/A |
INTRINSIC |
low complexity region
|
1283 |
1292 |
N/A |
INTRINSIC |
low complexity region
|
1313 |
1325 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125901
|
SMART Domains |
Protein: ENSMUSP00000126522 Gene: ENSMUSG00000021338
Domain | Start | End | E-Value | Type |
Blast:LRR
|
13 |
40 |
5e-8 |
BLAST |
Blast:LRR
|
41 |
74 |
4e-9 |
BLAST |
Pfam:LRR_6
|
75 |
101 |
4.4e-2 |
PFAM |
Pfam:LRR_6
|
164 |
187 |
1.6e-3 |
PFAM |
Blast:LRR
|
192 |
219 |
7e-10 |
BLAST |
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
low complexity region
|
473 |
482 |
N/A |
INTRINSIC |
PDB:3LK3|T
|
564 |
676 |
4e-57 |
PDB |
low complexity region
|
727 |
743 |
N/A |
INTRINSIC |
low complexity region
|
841 |
847 |
N/A |
INTRINSIC |
low complexity region
|
849 |
864 |
N/A |
INTRINSIC |
low complexity region
|
883 |
892 |
N/A |
INTRINSIC |
low complexity region
|
913 |
925 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000120971 Gene: ENSMUSG00000021338 AA Change: M92L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
A |
T |
9: 53,334,317 (GRCm39) |
M187L |
possibly damaging |
Het |
9930012K11Rik |
T |
C |
14: 70,394,686 (GRCm39) |
E156G |
possibly damaging |
Het |
Acad9 |
C |
T |
3: 36,130,139 (GRCm39) |
A194V |
probably damaging |
Het |
Agps |
T |
A |
2: 75,683,128 (GRCm39) |
V151E |
probably benign |
Het |
Ak9 |
A |
T |
10: 41,283,367 (GRCm39) |
I1273L |
|
Het |
Akr1c19 |
T |
A |
13: 4,296,818 (GRCm39) |
L288Q |
probably damaging |
Het |
Ccz1 |
T |
A |
5: 143,949,897 (GRCm39) |
I43F |
probably damaging |
Het |
Cep70 |
G |
A |
9: 99,157,638 (GRCm39) |
C179Y |
probably damaging |
Het |
Comt |
A |
T |
16: 18,229,440 (GRCm39) |
L196H |
probably damaging |
Het |
Cspg5 |
A |
T |
9: 110,076,023 (GRCm39) |
D253V |
probably damaging |
Het |
Dars2 |
A |
G |
1: 160,874,378 (GRCm39) |
V437A |
possibly damaging |
Het |
Dcaf5 |
A |
G |
12: 80,395,164 (GRCm39) |
I335T |
probably damaging |
Het |
Ddn |
T |
C |
15: 98,703,906 (GRCm39) |
K462R |
possibly damaging |
Het |
Dscaml1 |
T |
C |
9: 45,654,044 (GRCm39) |
|
probably null |
Het |
Eef1ece2 |
T |
C |
16: 20,451,341 (GRCm39) |
S325P |
probably benign |
Het |
Ethe1 |
A |
G |
7: 24,307,377 (GRCm39) |
Y197C |
probably damaging |
Het |
Evc |
A |
T |
5: 37,479,527 (GRCm39) |
L269* |
probably null |
Het |
Fam161a |
T |
C |
11: 22,970,001 (GRCm39) |
S60P |
possibly damaging |
Het |
Fam20b |
A |
G |
1: 156,509,012 (GRCm39) |
V400A |
probably benign |
Het |
Fam53b |
T |
A |
7: 132,361,390 (GRCm39) |
S213C |
possibly damaging |
Het |
Flot2 |
A |
G |
11: 77,945,612 (GRCm39) |
I45V |
probably benign |
Het |
Gemin4 |
A |
C |
11: 76,103,579 (GRCm39) |
L394R |
probably damaging |
Het |
Glis2 |
T |
G |
16: 4,429,182 (GRCm39) |
S128R |
possibly damaging |
Het |
Gm3696 |
A |
G |
14: 18,435,009 (GRCm39) |
Y92H |
probably damaging |
Het |
Gpbp1l1 |
T |
C |
4: 116,447,442 (GRCm39) |
V374A |
probably benign |
Het |
Grm1 |
T |
C |
10: 10,565,440 (GRCm39) |
N956S |
probably benign |
Het |
Hbb-bh1 |
T |
C |
7: 103,492,238 (GRCm39) |
E27G |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,458,088 (GRCm39) |
C5233S |
probably damaging |
Het |
Hmgcr |
C |
T |
13: 96,803,105 (GRCm39) |
C30Y |
probably damaging |
Het |
Hoxb6 |
A |
G |
11: 96,183,651 (GRCm39) |
|
probably benign |
Het |
Igf2 |
T |
C |
7: 142,209,555 (GRCm39) |
Q35R |
possibly damaging |
Het |
Ighv1-4 |
C |
T |
12: 114,450,941 (GRCm39) |
V56I |
probably benign |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Lmtk2 |
C |
T |
5: 144,111,178 (GRCm39) |
Q633* |
probably null |
Het |
Mesd |
T |
C |
7: 83,544,957 (GRCm39) |
Y136H |
probably damaging |
Het |
Mga |
T |
A |
2: 119,795,269 (GRCm39) |
S2984R |
possibly damaging |
Het |
Mkrn3 |
T |
C |
7: 62,068,675 (GRCm39) |
N372S |
probably benign |
Het |
Mtpap |
A |
G |
18: 4,387,068 (GRCm39) |
I373V |
probably benign |
Het |
Mycbp2 |
G |
A |
14: 103,358,027 (GRCm39) |
T4589M |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,079,195 (GRCm39) |
Q921R |
probably benign |
Het |
Myom1 |
A |
G |
17: 71,352,544 (GRCm39) |
D324G |
possibly damaging |
Het |
Nat10 |
T |
C |
2: 103,584,514 (GRCm39) |
K88E |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,981,254 (GRCm39) |
R915G |
probably damaging |
Het |
Nek4 |
T |
C |
14: 30,679,249 (GRCm39) |
Y190H |
probably damaging |
Het |
Nfasc |
A |
C |
1: 132,529,790 (GRCm39) |
Y797D |
probably damaging |
Het |
Ngp |
A |
G |
9: 110,249,978 (GRCm39) |
D92G |
probably benign |
Het |
Nos2 |
A |
C |
11: 78,820,680 (GRCm39) |
H95P |
probably damaging |
Het |
Nr3c1 |
ACGTC |
ACGTCGTC |
18: 39,619,513 (GRCm39) |
|
probably benign |
Het |
Or10ag59 |
C |
T |
2: 87,405,863 (GRCm39) |
T145I |
probably benign |
Het |
Or5bw2 |
C |
A |
7: 6,573,715 (GRCm39) |
H242N |
probably damaging |
Het |
Or5p73 |
T |
C |
7: 108,064,642 (GRCm39) |
I37T |
possibly damaging |
Het |
Or5t18 |
A |
T |
2: 86,636,967 (GRCm39) |
H125Q |
possibly damaging |
Het |
Otogl |
T |
A |
10: 107,606,471 (GRCm39) |
D2154V |
probably benign |
Het |
Pdss1 |
T |
A |
2: 22,825,653 (GRCm39) |
|
probably null |
Het |
Pex5 |
A |
T |
6: 124,375,022 (GRCm39) |
L609* |
probably null |
Het |
Pglyrp4 |
C |
A |
3: 90,640,281 (GRCm39) |
A177D |
probably damaging |
Het |
Phactr4 |
A |
G |
4: 132,104,489 (GRCm39) |
|
probably null |
Het |
Phf8-ps |
T |
C |
17: 33,284,501 (GRCm39) |
D767G |
probably benign |
Het |
Pik3cd |
G |
C |
4: 149,744,171 (GRCm39) |
N193K |
probably benign |
Het |
Prr36 |
TACCTCTTC |
T |
8: 4,265,163 (GRCm39) |
|
probably benign |
Het |
Prss38 |
A |
T |
11: 59,266,384 (GRCm39) |
W25R |
probably benign |
Het |
Prss8 |
T |
A |
7: 127,526,056 (GRCm39) |
Q189L |
probably damaging |
Het |
Psd |
T |
A |
19: 46,303,240 (GRCm39) |
D713V |
probably damaging |
Het |
Rad51ap2 |
C |
T |
12: 11,507,692 (GRCm39) |
T538I |
probably benign |
Het |
Rarres1 |
T |
C |
3: 67,422,517 (GRCm39) |
T78A |
probably benign |
Het |
Rbl2 |
G |
T |
8: 91,828,922 (GRCm39) |
G651* |
probably null |
Het |
Rev3l |
A |
T |
10: 39,699,601 (GRCm39) |
Q1366L |
probably damaging |
Het |
Rundc1 |
T |
C |
11: 101,320,413 (GRCm39) |
S215P |
probably benign |
Het |
Sanbr |
A |
T |
11: 23,572,479 (GRCm39) |
C130S |
probably benign |
Het |
Scarf2 |
G |
A |
16: 17,620,837 (GRCm39) |
W168* |
probably null |
Het |
Sh2d7 |
A |
G |
9: 54,448,186 (GRCm39) |
D69G |
possibly damaging |
Het |
Slc26a4 |
A |
T |
12: 31,579,527 (GRCm39) |
Y578* |
probably null |
Het |
Slc2a9 |
A |
T |
5: 38,610,538 (GRCm39) |
L87Q |
probably damaging |
Het |
Slc39a10 |
A |
T |
1: 46,849,230 (GRCm39) |
H795Q |
probably damaging |
Het |
Spata13 |
C |
T |
14: 60,993,871 (GRCm39) |
R1108W |
probably damaging |
Het |
Sqle |
T |
C |
15: 59,187,901 (GRCm39) |
S70P |
probably benign |
Het |
Syncrip |
A |
T |
9: 88,346,716 (GRCm39) |
F263I |
probably damaging |
Het |
Synj2 |
T |
C |
17: 6,088,220 (GRCm39) |
S1424P |
possibly damaging |
Het |
Tax1bp3 |
A |
T |
11: 73,071,941 (GRCm39) |
T89S |
possibly damaging |
Het |
Tcaim |
G |
A |
9: 122,648,092 (GRCm39) |
|
probably null |
Het |
Tcp10c |
T |
C |
17: 13,582,438 (GRCm39) |
I240T |
possibly damaging |
Het |
Ttll8 |
G |
T |
15: 88,801,442 (GRCm39) |
N415K |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,969,463 (GRCm39) |
E144G |
probably benign |
Het |
Ugcg |
T |
C |
4: 59,217,111 (GRCm39) |
S212P |
possibly damaging |
Het |
Vmn2r32 |
T |
C |
7: 7,482,807 (GRCm39) |
K56E |
probably benign |
Het |
Vmn2r55 |
T |
C |
7: 12,386,000 (GRCm39) |
E660G |
probably damaging |
Het |
Vmn2r7 |
T |
C |
3: 64,598,301 (GRCm39) |
N752S |
probably benign |
Het |
Vps54 |
T |
A |
11: 21,225,005 (GRCm39) |
M167K |
probably benign |
Het |
Vwa2 |
A |
C |
19: 56,897,791 (GRCm39) |
M699L |
probably benign |
Het |
Wdr59 |
A |
G |
8: 112,192,494 (GRCm39) |
V689A |
|
Het |
Whamm |
T |
G |
7: 81,235,995 (GRCm39) |
N399K |
probably damaging |
Het |
Zfp760 |
A |
G |
17: 21,941,760 (GRCm39) |
K312E |
probably benign |
Het |
Zkscan3 |
C |
A |
13: 21,578,983 (GRCm39) |
V171L |
probably benign |
Het |
|
Other mutations in Carmil1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00096:Carmil1
|
APN |
13 |
24,295,821 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL00392:Carmil1
|
APN |
13 |
24,278,474 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00943:Carmil1
|
APN |
13 |
24,295,869 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL01375:Carmil1
|
APN |
13 |
24,278,454 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02043:Carmil1
|
APN |
13 |
24,208,299 (GRCm39) |
unclassified |
probably benign |
|
IGL02122:Carmil1
|
APN |
13 |
24,220,541 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02178:Carmil1
|
APN |
13 |
24,278,386 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02264:Carmil1
|
APN |
13 |
24,259,699 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02269:Carmil1
|
APN |
13 |
24,339,393 (GRCm39) |
nonsense |
probably null |
|
IGL02546:Carmil1
|
APN |
13 |
24,299,482 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02740:Carmil1
|
APN |
13 |
24,278,501 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02876:Carmil1
|
APN |
13 |
24,338,651 (GRCm39) |
unclassified |
probably benign |
|
IGL02976:Carmil1
|
APN |
13 |
24,276,534 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL03012:Carmil1
|
APN |
13 |
24,220,355 (GRCm39) |
missense |
probably benign |
0.19 |
IGL03107:Carmil1
|
APN |
13 |
24,278,438 (GRCm39) |
missense |
probably damaging |
0.99 |
H8562:Carmil1
|
UTSW |
13 |
24,248,630 (GRCm39) |
missense |
probably benign |
0.00 |
R0085:Carmil1
|
UTSW |
13 |
24,209,850 (GRCm39) |
missense |
probably benign |
|
R0119:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
R0166:Carmil1
|
UTSW |
13 |
24,283,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R0299:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
R0304:Carmil1
|
UTSW |
13 |
24,323,324 (GRCm39) |
missense |
probably damaging |
0.99 |
R0335:Carmil1
|
UTSW |
13 |
24,257,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R0369:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
R0462:Carmil1
|
UTSW |
13 |
24,206,494 (GRCm39) |
missense |
probably benign |
0.01 |
R1203:Carmil1
|
UTSW |
13 |
24,282,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R1540:Carmil1
|
UTSW |
13 |
24,283,037 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1730:Carmil1
|
UTSW |
13 |
24,225,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R1770:Carmil1
|
UTSW |
13 |
24,357,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R1831:Carmil1
|
UTSW |
13 |
24,348,862 (GRCm39) |
missense |
probably benign |
0.00 |
R1893:Carmil1
|
UTSW |
13 |
24,208,446 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2099:Carmil1
|
UTSW |
13 |
24,357,650 (GRCm39) |
missense |
probably benign |
0.00 |
R2153:Carmil1
|
UTSW |
13 |
24,325,656 (GRCm39) |
missense |
probably damaging |
0.97 |
R2296:Carmil1
|
UTSW |
13 |
24,299,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Carmil1
|
UTSW |
13 |
24,229,051 (GRCm39) |
synonymous |
silent |
|
R2872:Carmil1
|
UTSW |
13 |
24,229,051 (GRCm39) |
synonymous |
silent |
|
R3113:Carmil1
|
UTSW |
13 |
24,253,740 (GRCm39) |
missense |
probably benign |
0.22 |
R3508:Carmil1
|
UTSW |
13 |
24,203,659 (GRCm39) |
utr 3 prime |
probably benign |
|
R3780:Carmil1
|
UTSW |
13 |
24,321,152 (GRCm39) |
missense |
probably damaging |
0.99 |
R3954:Carmil1
|
UTSW |
13 |
24,197,390 (GRCm39) |
missense |
probably benign |
0.00 |
R4027:Carmil1
|
UTSW |
13 |
24,251,206 (GRCm39) |
splice site |
probably benign |
|
R4086:Carmil1
|
UTSW |
13 |
24,208,444 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4647:Carmil1
|
UTSW |
13 |
24,321,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R4792:Carmil1
|
UTSW |
13 |
24,325,659 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4792:Carmil1
|
UTSW |
13 |
24,251,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R5012:Carmil1
|
UTSW |
13 |
24,208,403 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5166:Carmil1
|
UTSW |
13 |
24,338,966 (GRCm39) |
critical splice donor site |
probably null |
|
R5199:Carmil1
|
UTSW |
13 |
24,295,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R5330:Carmil1
|
UTSW |
13 |
24,209,929 (GRCm39) |
splice site |
probably null |
|
R5472:Carmil1
|
UTSW |
13 |
24,339,454 (GRCm39) |
missense |
probably damaging |
0.97 |
R5478:Carmil1
|
UTSW |
13 |
24,296,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R5496:Carmil1
|
UTSW |
13 |
24,339,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R5775:Carmil1
|
UTSW |
13 |
24,460,520 (GRCm39) |
missense |
probably benign |
|
R5789:Carmil1
|
UTSW |
13 |
24,305,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R5794:Carmil1
|
UTSW |
13 |
24,276,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R5977:Carmil1
|
UTSW |
13 |
24,253,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R6127:Carmil1
|
UTSW |
13 |
24,220,335 (GRCm39) |
missense |
probably benign |
0.03 |
R6128:Carmil1
|
UTSW |
13 |
24,197,177 (GRCm39) |
nonsense |
probably null |
|
R6403:Carmil1
|
UTSW |
13 |
24,265,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R6450:Carmil1
|
UTSW |
13 |
24,220,547 (GRCm39) |
missense |
probably damaging |
0.98 |
R6451:Carmil1
|
UTSW |
13 |
24,276,541 (GRCm39) |
nonsense |
probably null |
|
R6684:Carmil1
|
UTSW |
13 |
24,206,525 (GRCm39) |
missense |
unknown |
|
R6891:Carmil1
|
UTSW |
13 |
24,325,706 (GRCm39) |
missense |
probably benign |
0.13 |
R6902:Carmil1
|
UTSW |
13 |
24,299,528 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6924:Carmil1
|
UTSW |
13 |
24,259,667 (GRCm39) |
nonsense |
probably null |
|
R6946:Carmil1
|
UTSW |
13 |
24,299,528 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7038:Carmil1
|
UTSW |
13 |
24,323,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R7179:Carmil1
|
UTSW |
13 |
24,204,052 (GRCm39) |
missense |
probably benign |
0.00 |
R7282:Carmil1
|
UTSW |
13 |
24,197,387 (GRCm39) |
missense |
probably benign |
|
R7397:Carmil1
|
UTSW |
13 |
24,228,294 (GRCm39) |
missense |
probably damaging |
0.99 |
R7412:Carmil1
|
UTSW |
13 |
24,282,793 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7611:Carmil1
|
UTSW |
13 |
24,197,315 (GRCm39) |
missense |
probably benign |
0.30 |
R7642:Carmil1
|
UTSW |
13 |
24,251,189 (GRCm39) |
missense |
probably benign |
0.12 |
R7827:Carmil1
|
UTSW |
13 |
24,220,421 (GRCm39) |
missense |
probably benign |
0.00 |
R7890:Carmil1
|
UTSW |
13 |
24,197,215 (GRCm39) |
missense |
|
|
R8014:Carmil1
|
UTSW |
13 |
24,220,304 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8068:Carmil1
|
UTSW |
13 |
24,259,711 (GRCm39) |
missense |
probably benign |
0.00 |
R8214:Carmil1
|
UTSW |
13 |
24,228,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R8247:Carmil1
|
UTSW |
13 |
24,282,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R8272:Carmil1
|
UTSW |
13 |
24,220,562 (GRCm39) |
missense |
probably benign |
|
R8318:Carmil1
|
UTSW |
13 |
24,220,442 (GRCm39) |
missense |
probably benign |
|
R8361:Carmil1
|
UTSW |
13 |
24,251,113 (GRCm39) |
critical splice donor site |
probably null |
|
R8469:Carmil1
|
UTSW |
13 |
24,296,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R8558:Carmil1
|
UTSW |
13 |
24,209,863 (GRCm39) |
missense |
probably benign |
|
R8698:Carmil1
|
UTSW |
13 |
24,220,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R8722:Carmil1
|
UTSW |
13 |
24,220,568 (GRCm39) |
missense |
probably benign |
0.16 |
R8836:Carmil1
|
UTSW |
13 |
24,339,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R8915:Carmil1
|
UTSW |
13 |
24,325,709 (GRCm39) |
missense |
probably damaging |
0.99 |
R8931:Carmil1
|
UTSW |
13 |
24,338,704 (GRCm39) |
missense |
probably benign |
0.03 |
R8932:Carmil1
|
UTSW |
13 |
24,197,179 (GRCm39) |
missense |
|
|
R9004:Carmil1
|
UTSW |
13 |
24,225,662 (GRCm39) |
missense |
probably damaging |
0.98 |
R9041:Carmil1
|
UTSW |
13 |
24,282,793 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9103:Carmil1
|
UTSW |
13 |
24,295,836 (GRCm39) |
missense |
probably benign |
0.01 |
R9224:Carmil1
|
UTSW |
13 |
24,292,512 (GRCm39) |
missense |
probably damaging |
0.98 |
R9428:Carmil1
|
UTSW |
13 |
24,295,834 (GRCm39) |
nonsense |
probably null |
|
R9460:Carmil1
|
UTSW |
13 |
24,253,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R9502:Carmil1
|
UTSW |
13 |
24,323,357 (GRCm39) |
missense |
probably benign |
|
R9548:Carmil1
|
UTSW |
13 |
24,460,516 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Carmil1
|
UTSW |
13 |
24,283,026 (GRCm39) |
missense |
possibly damaging |
0.47 |
Z1088:Carmil1
|
UTSW |
13 |
24,228,165 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGGCCCATGGAATAATTGCTGG -3'
(R):5'- TGAAACAGTCCATCATGGCC -3'
Sequencing Primer
(F):5'- GGCTTTTTGTTGAAGGCATAAGAAAC -3'
(R):5'- AGTCCATCATGGCCCCTCC -3'
|
Posted On |
2019-06-26 |