Incidental Mutation 'R9118:Krt1c'
| ID |
692658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt1c
|
| Ensembl Gene |
|
| Gene Name |
keratin 1 complex |
| Synonyms |
Krt-2, Krt2 |
| MMRRC Submission |
068921-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R9118 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
(GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101722976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 341
(E341K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023712]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023712
AA Change: E341K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: E341K
| 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 |
0.6121 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
A |
T |
9: 118,985,957 (GRCm39) |
S36T |
probably benign |
Het |
| Aifm2 |
C |
T |
10: 61,561,681 (GRCm39) |
T9I |
probably benign |
Het |
| Ano5 |
T |
A |
7: 51,220,122 (GRCm39) |
F421I |
probably damaging |
Het |
| Cacna1a |
G |
A |
8: 85,262,715 (GRCm39) |
V372M |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,755,853 (GRCm39) |
|
probably benign |
Het |
| Colgalt2 |
A |
G |
1: 152,378,906 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,879,925 (GRCm39) |
D421G |
possibly damaging |
Het |
| Dgat1 |
A |
T |
15: 76,386,718 (GRCm39) |
W440R |
probably damaging |
Het |
| Dnah5 |
TGTCCGACTACAACATCGAGACGGCCAAGCGCGTC |
TGTC |
15: 28,401,994 (GRCm39) |
|
probably null |
Het |
| Dnai7 |
A |
G |
6: 145,120,900 (GRCm39) |
Y691H |
probably damaging |
Het |
| Dnai7 |
A |
G |
6: 145,120,971 (GRCm39) |
L667P |
probably damaging |
Het |
| Eif4h |
C |
A |
5: 134,656,481 (GRCm39) |
V70L |
probably benign |
Het |
| Gabrd |
C |
A |
4: 155,470,475 (GRCm39) |
V326L |
possibly damaging |
Het |
| Lrp4 |
C |
T |
2: 91,308,927 (GRCm39) |
A538V |
possibly damaging |
Het |
| Mfap3l |
G |
A |
8: 61,109,716 (GRCm39) |
V31M |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,991,573 (GRCm39) |
I1557T |
possibly damaging |
Het |
| Or2y16 |
A |
T |
11: 49,335,409 (GRCm39) |
I244F |
probably benign |
Het |
| Or5an11 |
T |
C |
19: 12,246,263 (GRCm39) |
V223A |
probably benign |
Het |
| Pcyt2 |
G |
A |
11: 120,503,899 (GRCm39) |
P183L |
|
Het |
| Rapsn |
A |
G |
2: 90,875,378 (GRCm39) |
H387R |
probably damaging |
Het |
| Scaf11 |
G |
A |
15: 96,319,886 (GRCm39) |
A259V |
probably benign |
Het |
| Septin9 |
A |
G |
11: 117,157,398 (GRCm39) |
D11G |
probably benign |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
T |
A |
8: 41,351,994 (GRCm39) |
I19N |
possibly damaging |
Het |
| Synpr |
T |
C |
14: 13,608,673 (GRCm38) |
V171A |
probably damaging |
Het |
| Tmed7 |
T |
C |
18: 46,726,338 (GRCm39) |
N139S |
probably benign |
Het |
| Tnks1bp1 |
G |
T |
2: 84,893,720 (GRCm39) |
G1216W |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,386,839 (GRCm39) |
V2338E |
probably damaging |
Het |
| Vmn1r152 |
A |
T |
7: 22,222,992 (GRCm39) |
I201F |
|
Het |
| Vmn2r106 |
C |
A |
17: 20,505,667 (GRCm39) |
W9L |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,990,937 (GRCm39) |
V808A |
probably damaging |
Het |
| Zfp646 |
A |
G |
7: 127,480,810 (GRCm39) |
T996A |
|
Het |
| Zng1 |
T |
C |
19: 24,920,048 (GRCm39) |
R190G |
probably 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 |
|
|
R0785:Krt1c
|
UTSW |
15 |
101,726,356 (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 |
|
|
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'- TAGTGAAGCTCAGCTGTGTC -3'
(R):5'- ATGTGTGATGTCTCCTGCTC -3'
Sequencing Primer
(F):5'- AGCTGTGTCCCCCTATGG -3'
(R):5'- GTGATGTCTCCTGCTCCCCTTC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation