Incidental Mutation 'R0792:Krt1c'
| ID |
82481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt1c
|
| Ensembl Gene |
|
| Gene Name |
keratin 1 complex |
| Synonyms |
Krt-2, Krt2 |
| MMRRC Submission |
038972-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R0792 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
(GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101724932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 226
(V226A)
|
| 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: V226A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: V226A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,268,924 (GRCm39) |
V195A |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,452,466 (GRCm39) |
M211V |
probably damaging |
Het |
| Ahnak |
G |
T |
19: 8,994,098 (GRCm39) |
M5127I |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,111 (GRCm39) |
Y55H |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,544,313 (GRCm39) |
H1161Q |
probably benign |
Het |
| Armh3 |
A |
T |
19: 45,922,307 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
C |
T |
6: 113,750,349 (GRCm39) |
R625H |
probably damaging |
Het |
| Bdnf |
G |
A |
2: 109,554,463 (GRCm39) |
C239Y |
probably damaging |
Het |
| Bpifa5 |
G |
T |
2: 154,007,539 (GRCm39) |
|
probably null |
Het |
| C9 |
T |
A |
15: 6,516,243 (GRCm39) |
F349I |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,927,975 (GRCm39) |
V1170A |
possibly damaging |
Het |
| Celsr1 |
A |
G |
15: 85,815,477 (GRCm39) |
V1846A |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,652 (GRCm39) |
L120H |
possibly damaging |
Het |
| Cntrl |
T |
A |
2: 35,045,291 (GRCm39) |
I781K |
possibly damaging |
Het |
| Cpne1 |
G |
T |
2: 155,919,339 (GRCm39) |
Q343K |
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,405,702 (GRCm39) |
I29K |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,786,827 (GRCm39) |
D3602G |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,475,879 (GRCm39) |
S885G |
probably benign |
Het |
| Evpl |
T |
A |
11: 116,118,549 (GRCm39) |
Q686L |
probably damaging |
Het |
| Fmo6 |
C |
T |
1: 162,748,132 (GRCm39) |
A311T |
probably damaging |
Het |
| Gli1 |
A |
T |
10: 127,168,446 (GRCm39) |
M469K |
probably damaging |
Het |
| Grin2c |
G |
A |
11: 115,141,472 (GRCm39) |
P882L |
probably damaging |
Het |
| H2-Ob |
C |
T |
17: 34,461,588 (GRCm39) |
T109I |
probably damaging |
Het |
| Jpt2 |
C |
A |
17: 25,167,647 (GRCm39) |
A101S |
probably benign |
Het |
| Lamc1 |
T |
G |
1: 153,110,341 (GRCm39) |
Q1111H |
probably damaging |
Het |
| Lamc1 |
T |
C |
1: 153,110,358 (GRCm39) |
S1106G |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,110,326 (GRCm39) |
Q1116H |
possibly damaging |
Het |
| Lrp1 |
G |
T |
10: 127,403,233 (GRCm39) |
D2113E |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,411,155 (GRCm39) |
D1399E |
probably benign |
Het |
| Ltbp4 |
G |
T |
7: 27,024,485 (GRCm39) |
P715Q |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,547,367 (GRCm39) |
V450A |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
A |
T |
17: 71,428,131 (GRCm39) |
I1450F |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,420,274 (GRCm39) |
I1332T |
possibly damaging |
Het |
| Ncstn |
A |
G |
1: 171,899,072 (GRCm39) |
V353A |
possibly damaging |
Het |
| Nt5c3 |
T |
C |
6: 56,863,734 (GRCm39) |
T149A |
probably benign |
Het |
| Or5ac21 |
A |
T |
16: 59,124,352 (GRCm39) |
I280F |
probably damaging |
Het |
| Or5p81 |
A |
G |
7: 108,267,364 (GRCm39) |
H247R |
probably damaging |
Het |
| Paip1 |
T |
C |
13: 119,566,854 (GRCm39) |
S54P |
possibly damaging |
Het |
| Prdm14 |
G |
T |
1: 13,195,968 (GRCm39) |
A31E |
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,985,767 (GRCm39) |
S1243P |
probably damaging |
Het |
| Prss1 |
T |
C |
6: 41,435,878 (GRCm39) |
M1T |
probably null |
Het |
| Raver2 |
T |
A |
4: 100,960,147 (GRCm39) |
V209D |
probably damaging |
Het |
| Scube1 |
T |
A |
15: 83,512,277 (GRCm39) |
|
probably null |
Het |
| Serpina3c |
T |
A |
12: 104,117,805 (GRCm39) |
I178F |
probably damaging |
Het |
| Slc16a13 |
A |
T |
11: 70,111,457 (GRCm39) |
V16E |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,722,640 (GRCm39) |
S236P |
possibly damaging |
Het |
| Sobp |
A |
C |
10: 42,898,689 (GRCm39) |
S299A |
probably damaging |
Het |
| Sorcs3 |
C |
A |
19: 48,694,448 (GRCm39) |
T574K |
possibly damaging |
Het |
| Trak2 |
A |
T |
1: 58,942,820 (GRCm39) |
M862K |
probably benign |
Het |
| Ubox5 |
A |
T |
2: 130,442,630 (GRCm39) |
V19E |
probably damaging |
Het |
| Vmn1r173 |
A |
G |
7: 23,402,160 (GRCm39) |
T132A |
probably benign |
Het |
| Zfp267 |
A |
G |
3: 36,218,711 (GRCm39) |
M244V |
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,509 (GRCm39) |
D273G |
probably benign |
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 |
|
|
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'- TCTTCCACGAGATCCTGCATGTTG -3'
(R):5'- TGATGCAATCTGCTGCTGGGAC -3'
Sequencing Primer
(F):5'- GTTCAGCTCTGACTCCTGTGAG -3'
(R):5'- GGGGAATGCCTCAAGTCTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation