Incidental Mutation 'R0785:Krt1c'
ID |
76831 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt1c
|
Ensembl Gene |
|
Gene Name |
keratin 1 complex |
Synonyms |
Krt-2, Krt2 |
MMRRC Submission |
038965-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R0785 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
(GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 101726356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 61
(G61C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023712]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000023712
AA Change: G61C
|
SMART Domains |
Protein: ENSMUSP00000023712 Gene: ENSMUSG00000064201 AA Change: G61C
Domain | Start | End | E-Value | Type |
Pfam:Keratin_2_head
|
23 |
195 |
3.6e-26 |
PFAM |
Filament
|
198 |
511 |
4.22e-152 |
SMART |
low complexity region
|
520 |
533 |
N/A |
INTRINSIC |
low complexity region
|
538 |
701 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2443 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.1%
- 20x: 87.1%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
Adam10 |
A |
G |
9: 70,675,170 (GRCm39) |
E593G |
possibly damaging |
Het |
Adh6a |
T |
C |
3: 138,034,829 (GRCm39) |
|
probably benign |
Het |
Akap6 |
T |
A |
12: 52,933,405 (GRCm39) |
I299N |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,013,483 (GRCm39) |
|
probably benign |
Het |
Bod1l |
A |
T |
5: 41,977,359 (GRCm39) |
N1318K |
probably benign |
Het |
Ccdc121rt2 |
A |
G |
5: 112,598,434 (GRCm39) |
D327G |
probably benign |
Het |
Eif2b2 |
C |
A |
12: 85,268,335 (GRCm39) |
T170K |
probably damaging |
Het |
Ermard |
T |
A |
17: 15,242,239 (GRCm39) |
H138Q |
probably damaging |
Het |
Ern2 |
A |
T |
7: 121,770,884 (GRCm39) |
|
probably null |
Het |
Fkbp11 |
T |
C |
15: 98,624,430 (GRCm39) |
K108R |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,719,152 (GRCm39) |
K353E |
possibly damaging |
Het |
Hipk1 |
G |
T |
3: 103,661,641 (GRCm39) |
|
probably null |
Het |
Itga4 |
A |
G |
2: 79,119,649 (GRCm39) |
D485G |
possibly damaging |
Het |
Med12l |
T |
A |
3: 59,168,253 (GRCm39) |
L1561Q |
probably damaging |
Het |
Mtmr14 |
T |
C |
6: 113,254,908 (GRCm39) |
|
probably null |
Het |
Myorg |
A |
G |
4: 41,497,539 (GRCm39) |
V697A |
probably benign |
Het |
Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
Naip1 |
C |
T |
13: 100,559,593 (GRCm39) |
R1137Q |
probably benign |
Het |
Nav2 |
T |
A |
7: 49,070,081 (GRCm39) |
H251Q |
probably benign |
Het |
Nphp4 |
A |
G |
4: 152,646,566 (GRCm39) |
D1366G |
possibly damaging |
Het |
Or2b7 |
A |
G |
13: 21,739,958 (GRCm39) |
V78A |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,336,750 (GRCm39) |
|
probably null |
Het |
Pde6c |
A |
C |
19: 38,121,628 (GRCm39) |
M79L |
probably benign |
Het |
Pld5 |
C |
T |
1: 175,803,018 (GRCm39) |
|
probably benign |
Het |
Polr1g |
G |
C |
7: 19,091,210 (GRCm39) |
S299C |
probably benign |
Het |
Rps6kc1 |
A |
G |
1: 190,541,142 (GRCm39) |
V387A |
probably damaging |
Het |
Tas2r136 |
T |
C |
6: 132,754,890 (GRCm39) |
D79G |
probably benign |
Het |
Tmem243 |
A |
T |
5: 9,168,488 (GRCm39) |
K90I |
probably damaging |
Het |
Topbp1 |
A |
G |
9: 103,192,289 (GRCm39) |
H260R |
probably damaging |
Het |
Trappc1 |
A |
G |
11: 69,215,636 (GRCm39) |
|
probably benign |
Het |
Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
Zfp300 |
T |
C |
X: 20,949,164 (GRCm39) |
Y200C |
possibly damaging |
Het |
|
Other mutations in Krt1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01316:Krt1c
|
APN |
15 |
101,719,646 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01568:Krt1c
|
APN |
15 |
101,721,646 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01586:Krt1c
|
APN |
15 |
101,719,825 (GRCm39) |
missense |
unknown |
|
IGL01667:Krt1c
|
APN |
15 |
101,724,765 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02017:Krt1c
|
APN |
15 |
101,724,939 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02022:Krt1c
|
APN |
15 |
101,724,953 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02538:Krt1c
|
APN |
15 |
101,719,589 (GRCm39) |
missense |
unknown |
|
IGL02959:Krt1c
|
APN |
15 |
101,719,763 (GRCm39) |
missense |
unknown |
|
IGL03295:Krt1c
|
APN |
15 |
101,724,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R0195:Krt1c
|
UTSW |
15 |
101,721,626 (GRCm39) |
nonsense |
probably null |
|
R0472:Krt1c
|
UTSW |
15 |
101,721,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R0749:Krt1c
|
UTSW |
15 |
101,726,098 (GRCm39) |
missense |
unknown |
|
R0792:Krt1c
|
UTSW |
15 |
101,724,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R1232:Krt1c
|
UTSW |
15 |
101,720,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R1281:Krt1c
|
UTSW |
15 |
101,721,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R1770:Krt1c
|
UTSW |
15 |
101,719,589 (GRCm39) |
missense |
unknown |
|
R1783:Krt1c
|
UTSW |
15 |
101,722,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Krt1c
|
UTSW |
15 |
101,724,861 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2283:Krt1c
|
UTSW |
15 |
101,722,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R3977:Krt1c
|
UTSW |
15 |
101,719,562 (GRCm39) |
missense |
unknown |
|
R4575:Krt1c
|
UTSW |
15 |
101,722,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R4619:Krt1c
|
UTSW |
15 |
101,726,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R4620:Krt1c
|
UTSW |
15 |
101,726,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R4766:Krt1c
|
UTSW |
15 |
101,722,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R4819:Krt1c
|
UTSW |
15 |
101,719,979 (GRCm39) |
missense |
unknown |
|
R4953:Krt1c
|
UTSW |
15 |
101,722,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R5108:Krt1c
|
UTSW |
15 |
101,721,721 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5973:Krt1c
|
UTSW |
15 |
101,724,747 (GRCm39) |
missense |
probably damaging |
0.99 |
R6122:Krt1c
|
UTSW |
15 |
101,724,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Krt1c
|
UTSW |
15 |
101,723,479 (GRCm39) |
missense |
probably benign |
0.05 |
R6661:Krt1c
|
UTSW |
15 |
101,724,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R6974:Krt1c
|
UTSW |
15 |
101,726,314 (GRCm39) |
missense |
unknown |
|
R6993:Krt1c
|
UTSW |
15 |
101,724,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R7104:Krt1c
|
UTSW |
15 |
101,723,522 (GRCm39) |
missense |
probably benign |
0.09 |
R7573:Krt1c
|
UTSW |
15 |
101,722,954 (GRCm39) |
missense |
probably benign |
0.05 |
R7947:Krt1c
|
UTSW |
15 |
101,724,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R8469:Krt1c
|
UTSW |
15 |
101,724,804 (GRCm39) |
missense |
probably benign |
0.22 |
R8805:Krt1c
|
UTSW |
15 |
101,724,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9051:Krt1c
|
UTSW |
15 |
101,726,317 (GRCm39) |
missense |
unknown |
|
R9118:Krt1c
|
UTSW |
15 |
101,722,976 (GRCm39) |
missense |
probably damaging |
0.99 |
R9230:Krt1c
|
UTSW |
15 |
101,725,948 (GRCm39) |
missense |
probably benign |
0.39 |
R9257:Krt1c
|
UTSW |
15 |
101,724,926 (GRCm39) |
missense |
probably benign |
0.05 |
R9424:Krt1c
|
UTSW |
15 |
101,719,792 (GRCm39) |
missense |
unknown |
|
R9569:Krt1c
|
UTSW |
15 |
101,724,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R9576:Krt1c
|
UTSW |
15 |
101,719,792 (GRCm39) |
missense |
unknown |
|
RF020:Krt1c
|
UTSW |
15 |
101,726,403 (GRCm39) |
missense |
unknown |
|
Z1177:Krt1c
|
UTSW |
15 |
101,719,985 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAAGAGGCTCTGATTGACAGACAC -3'
(R):5'- ACAGCACACTTTGGTCTCCAGC -3'
Sequencing Primer
(F):5'- TCATGGATACCTCCACCAGGG -3'
(R):5'- ACATCATGAGTTGCCAGATCTC -3'
|
Posted On |
2013-10-16 |