Incidental Mutation 'R0560:Krtcap2'
ID |
45821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krtcap2
|
Ensembl Gene |
ENSMUSG00000042747 |
Gene Name |
keratinocyte associated protein 2 |
Synonyms |
0610010I12Rik |
MMRRC Submission |
038752-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.260)
|
Stock # |
R0560 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
89153201-89157036 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 89156449 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130372
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040888]
[ENSMUST00000041022]
[ENSMUST00000090924]
[ENSMUST00000107464]
[ENSMUST00000125952]
[ENSMUST00000168900]
[ENSMUST00000143637]
|
AlphaFold |
Q5RL79 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040888
|
SMART Domains |
Protein: ENSMUSP00000043540 Gene: ENSMUSG00000042747
Domain | Start | End | E-Value | Type |
Pfam:Keratin_assoc
|
87 |
215 |
2.5e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041022
|
SMART Domains |
Protein: ENSMUSP00000036053 Gene: ENSMUSG00000042766
Domain | Start | End | E-Value | Type |
RING
|
33 |
133 |
1.92e-6 |
SMART |
BBOX
|
222 |
263 |
9.59e-7 |
SMART |
Blast:BBC
|
271 |
395 |
3e-13 |
BLAST |
FN3
|
430 |
515 |
2.03e-2 |
SMART |
low complexity region
|
561 |
571 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090924
|
SMART Domains |
Protein: ENSMUSP00000088442 Gene: ENSMUSG00000042766
Domain | Start | End | E-Value | Type |
RING
|
20 |
120 |
1.92e-6 |
SMART |
BBOX
|
209 |
250 |
9.59e-7 |
SMART |
Blast:BBC
|
258 |
382 |
8e-13 |
BLAST |
FN3
|
417 |
502 |
2.03e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107464
|
SMART Domains |
Protein: ENSMUSP00000103088 Gene: ENSMUSG00000042766
Domain | Start | End | E-Value | Type |
RING
|
10 |
110 |
1.92e-6 |
SMART |
BBOX
|
199 |
240 |
9.59e-7 |
SMART |
Blast:BBC
|
248 |
372 |
2e-13 |
BLAST |
FN3
|
407 |
492 |
2.03e-2 |
SMART |
low complexity region
|
538 |
548 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126691
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168900
|
SMART Domains |
Protein: ENSMUSP00000130372 Gene: ENSMUSG00000042747
Domain | Start | End | E-Value | Type |
Pfam:Keratin_assoc
|
1 |
134 |
1.2e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132818
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143637
|
SMART Domains |
Protein: ENSMUSP00000119270 Gene: ENSMUSG00000042766
Domain | Start | End | E-Value | Type |
RING
|
33 |
133 |
1.92e-6 |
SMART |
BBOX
|
222 |
263 |
9.59e-7 |
SMART |
Blast:BBC
|
270 |
391 |
4e-11 |
BLAST |
|
Meta Mutation Damage Score |
0.9582 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (26/26) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
T |
C |
12: 8,055,101 (GRCm39) |
Y1334H |
probably damaging |
Het |
Arsb |
A |
G |
13: 93,926,706 (GRCm39) |
T159A |
possibly damaging |
Het |
Asb18 |
A |
C |
1: 89,942,250 (GRCm39) |
V17G |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,413,460 (GRCm39) |
K284E |
probably benign |
Het |
Bspry |
A |
G |
4: 62,404,686 (GRCm39) |
R161G |
probably damaging |
Het |
Ccdc138 |
A |
G |
10: 58,411,539 (GRCm39) |
T636A |
probably damaging |
Het |
Cubn |
A |
T |
2: 13,433,491 (GRCm39) |
W1140R |
probably damaging |
Het |
Cyp2t4 |
A |
G |
7: 26,857,936 (GRCm39) |
T479A |
probably damaging |
Het |
Dele1 |
T |
A |
18: 38,387,551 (GRCm39) |
L230Q |
probably damaging |
Het |
Dtx3l |
A |
G |
16: 35,753,305 (GRCm39) |
S434P |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,122,035 (GRCm39) |
V611A |
probably benign |
Het |
Epb41l3 |
T |
G |
17: 69,581,892 (GRCm39) |
|
probably null |
Het |
Fam161b |
C |
T |
12: 84,404,492 (GRCm39) |
D63N |
probably damaging |
Het |
Gm5422 |
G |
A |
10: 31,125,240 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
Mtrf1 |
T |
A |
14: 79,644,290 (GRCm39) |
D199E |
probably damaging |
Het |
Myorg |
G |
A |
4: 41,498,167 (GRCm39) |
R488W |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Ncf2 |
T |
A |
1: 152,697,273 (GRCm39) |
Y47N |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,726 (GRCm39) |
|
probably benign |
Het |
Siglec1 |
G |
T |
2: 130,912,266 (GRCm39) |
T1692N |
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,139,092 (GRCm39) |
N284S |
probably benign |
Het |
Slfn3 |
T |
C |
11: 83,103,978 (GRCm39) |
F283S |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,154 (GRCm39) |
F2297S |
possibly damaging |
Het |
Vmn2r69 |
A |
G |
7: 85,058,922 (GRCm39) |
|
probably null |
Het |
Vps13d |
T |
C |
4: 144,780,760 (GRCm39) |
E3957G |
probably damaging |
Het |
|
Other mutations in Krtcap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1930:Krtcap2
|
UTSW |
3 |
89,154,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R4504:Krtcap2
|
UTSW |
3 |
89,153,563 (GRCm39) |
unclassified |
probably benign |
|
R4505:Krtcap2
|
UTSW |
3 |
89,153,563 (GRCm39) |
unclassified |
probably benign |
|
R4506:Krtcap2
|
UTSW |
3 |
89,153,563 (GRCm39) |
unclassified |
probably benign |
|
R4507:Krtcap2
|
UTSW |
3 |
89,153,563 (GRCm39) |
unclassified |
probably benign |
|
R5109:Krtcap2
|
UTSW |
3 |
89,154,085 (GRCm39) |
missense |
probably benign |
|
R5392:Krtcap2
|
UTSW |
3 |
89,154,186 (GRCm39) |
missense |
probably benign |
0.01 |
R6363:Krtcap2
|
UTSW |
3 |
89,156,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R9393:Krtcap2
|
UTSW |
3 |
89,153,578 (GRCm39) |
unclassified |
probably benign |
|
R9559:Krtcap2
|
UTSW |
3 |
89,154,178 (GRCm39) |
missense |
probably damaging |
0.97 |
R9601:Krtcap2
|
UTSW |
3 |
89,156,449 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACGTTTTCAAGCAGGTTCCTCACAG -3'
(R):5'- TGTTGCTACTAGGGCAGACACCAG -3'
Sequencing Primer
(F):5'- GGTTCCTCACAGGGTTCTAGAC -3'
(R):5'- tggggagatggctcagg -3'
|
Posted On |
2013-06-11 |