Incidental Mutation 'R4819:Krt1c'
ID |
370077 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt1c
|
Ensembl Gene |
|
Gene Name |
keratin 1 complex |
Synonyms |
Krt-2, Krt2 |
MMRRC Submission |
042000-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R4819 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
(GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101719979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 564
(T564A)
|
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: T564A
|
SMART Domains |
Protein: ENSMUSP00000023712 Gene: ENSMUSG00000064201 AA Change: T564A
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: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,240,421 (GRCm39) |
N761K |
possibly damaging |
Het |
Adgrf3 |
T |
A |
5: 30,403,442 (GRCm39) |
L444F |
possibly damaging |
Het |
Akap8 |
G |
A |
17: 32,531,279 (GRCm39) |
R378W |
probably damaging |
Het |
Amotl2 |
C |
T |
9: 102,607,270 (GRCm39) |
R693W |
probably damaging |
Het |
As3mt |
G |
T |
19: 46,695,968 (GRCm39) |
|
probably benign |
Het |
Atp6v1e2 |
A |
G |
17: 87,251,966 (GRCm39) |
V144A |
probably benign |
Het |
Bfar |
C |
T |
16: 13,505,331 (GRCm39) |
Q114* |
probably null |
Het |
Casd1 |
C |
T |
6: 4,621,225 (GRCm39) |
A261V |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,451,696 (GRCm39) |
I440K |
probably damaging |
Het |
Cfap54 |
G |
T |
10: 92,672,339 (GRCm39) |
Y2910* |
probably null |
Het |
Csl |
A |
G |
10: 99,593,944 (GRCm39) |
F374L |
possibly damaging |
Het |
Dctn1 |
G |
A |
6: 83,167,501 (GRCm39) |
R275H |
probably damaging |
Het |
Derl3 |
A |
G |
10: 75,729,713 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,007,916 (GRCm39) |
I117V |
probably benign |
Het |
Edc3 |
T |
A |
9: 57,655,680 (GRCm39) |
C477S |
possibly damaging |
Het |
Efs |
T |
C |
14: 55,154,610 (GRCm39) |
E450G |
probably damaging |
Het |
Fcrla |
T |
A |
1: 170,748,508 (GRCm39) |
I212F |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,818,786 (GRCm39) |
I4840V |
probably benign |
Het |
Gpam |
T |
A |
19: 55,066,773 (GRCm39) |
I581F |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,458,358 (GRCm39) |
D45G |
probably damaging |
Het |
Heca |
A |
G |
10: 17,783,820 (GRCm39) |
Y478H |
probably damaging |
Het |
Hspa9 |
C |
T |
18: 35,072,441 (GRCm39) |
M561I |
probably damaging |
Het |
Hyal6 |
T |
A |
6: 24,734,965 (GRCm39) |
Y299* |
probably null |
Het |
Iho1 |
A |
G |
9: 108,283,877 (GRCm39) |
V189A |
probably benign |
Het |
Ik |
T |
A |
18: 36,886,310 (GRCm39) |
|
probably null |
Het |
Khsrp |
A |
G |
17: 57,330,360 (GRCm39) |
S582P |
possibly damaging |
Het |
Kif18a |
A |
G |
2: 109,122,471 (GRCm39) |
D182G |
probably damaging |
Het |
Lig4 |
A |
G |
8: 10,021,885 (GRCm39) |
S632P |
probably benign |
Het |
Med1 |
C |
T |
11: 98,046,258 (GRCm39) |
|
probably benign |
Het |
Mgat3 |
T |
A |
15: 80,096,550 (GRCm39) |
I459N |
probably damaging |
Het |
Mkln1 |
A |
T |
6: 31,451,421 (GRCm39) |
Q454L |
probably benign |
Het |
Mn1 |
A |
G |
5: 111,567,803 (GRCm39) |
E591G |
possibly damaging |
Het |
Myo5c |
T |
A |
9: 75,199,484 (GRCm39) |
L1364Q |
probably damaging |
Het |
Oas1d |
T |
C |
5: 121,053,780 (GRCm39) |
V80A |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,929,674 (GRCm39) |
D5180E |
probably damaging |
Het |
Pax6 |
G |
A |
2: 105,522,622 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
A |
C |
10: 74,160,221 (GRCm39) |
N446T |
probably damaging |
Het |
Pcnx2 |
A |
T |
8: 126,581,969 (GRCm39) |
F922L |
probably benign |
Het |
Ptpn4 |
G |
T |
1: 119,587,580 (GRCm39) |
T921K |
probably benign |
Het |
Selenov |
A |
G |
7: 27,989,746 (GRCm39) |
|
probably null |
Het |
Tmem100 |
A |
G |
11: 89,926,271 (GRCm39) |
T33A |
probably benign |
Het |
Tmem59 |
C |
T |
4: 107,044,878 (GRCm39) |
Q66* |
probably null |
Het |
Trav21-dv12 |
T |
A |
14: 54,114,070 (GRCm39) |
Y63* |
probably null |
Het |
Trim66 |
G |
T |
7: 109,056,793 (GRCm39) |
H1121Q |
probably damaging |
Het |
Trim80 |
A |
G |
11: 115,338,769 (GRCm39) |
Y533C |
probably damaging |
Het |
Ttc17 |
G |
A |
2: 94,194,955 (GRCm39) |
P520L |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,622,093 (GRCm39) |
V15483E |
probably damaging |
Het |
Vinac1 |
G |
T |
2: 128,882,721 (GRCm39) |
N98K |
probably damaging |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
Zfhx4 |
C |
A |
3: 5,468,974 (GRCm39) |
T3069K |
probably benign |
Het |
Zfp281 |
A |
G |
1: 136,553,448 (GRCm39) |
H142R |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,060,044 (GRCm39) |
R1190L |
probably damaging |
Het |
Zfp935 |
T |
A |
13: 62,602,231 (GRCm39) |
H323L |
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 |
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'- AGAGCTGTATCCTCCTCCAGAG -3'
(R):5'- GTAGAGGGGCATTCACCTTTC -3'
Sequencing Primer
(F):5'- TATCCTCCTCCAGAGCCGGAG -3'
(R):5'- AGAGGGGCATTCACCTTTCTTATG -3'
|
Posted On |
2016-02-04 |