Incidental Mutation 'IGL01358:Krt78'
ID |
75629 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt78
|
Ensembl Gene |
ENSMUSG00000050463 |
Gene Name |
keratin 78 |
Synonyms |
2310030B04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
IGL01358
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 101854698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 1038
(S1038A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
AlphaFold |
E9Q0F0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164932
AA Change: S1038A
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000126197 Gene: ENSMUSG00000050463 AA Change: S1038A
Domain | Start | End | E-Value | Type |
Pfam:Keratin_2_head
|
2 |
101 |
5.7e-16 |
PFAM |
Filament
|
104 |
417 |
1.38e-133 |
SMART |
internal_repeat_1
|
421 |
660 |
8.87e-74 |
PROSPERO |
internal_repeat_1
|
704 |
957 |
8.87e-74 |
PROSPERO |
low complexity region
|
1033 |
1049 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
A |
G |
7: 27,335,579 (GRCm39) |
Y316C |
probably damaging |
Het |
Atp6v0a4 |
T |
G |
6: 38,051,145 (GRCm39) |
D411A |
probably damaging |
Het |
Calr3 |
A |
T |
8: 73,181,057 (GRCm39) |
Y178* |
probably null |
Het |
Ces1e |
A |
G |
8: 93,940,778 (GRCm39) |
L298P |
probably damaging |
Het |
Clk3 |
T |
C |
9: 57,661,875 (GRCm39) |
T391A |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,842,128 (GRCm39) |
I275T |
probably damaging |
Het |
Cul9 |
G |
T |
17: 46,849,240 (GRCm39) |
P635H |
probably damaging |
Het |
Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
Dscam |
A |
T |
16: 96,411,543 (GRCm39) |
S1778T |
possibly damaging |
Het |
Dsg2 |
T |
A |
18: 20,734,850 (GRCm39) |
Y943N |
probably damaging |
Het |
Eml1 |
A |
T |
12: 108,480,727 (GRCm39) |
T398S |
probably benign |
Het |
Epha3 |
G |
A |
16: 63,416,109 (GRCm39) |
|
probably benign |
Het |
Hacl1 |
A |
T |
14: 31,348,374 (GRCm39) |
M200K |
probably benign |
Het |
Ighmbp2 |
T |
A |
19: 3,318,817 (GRCm39) |
S420C |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,806,017 (GRCm39) |
I1200N |
probably damaging |
Het |
Kctd21 |
T |
A |
7: 96,996,581 (GRCm39) |
L18Q |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,382,814 (GRCm39) |
|
probably benign |
Het |
Lrrc41 |
T |
A |
4: 115,932,784 (GRCm39) |
V60D |
probably benign |
Het |
Mafk |
T |
C |
5: 139,786,248 (GRCm39) |
S149P |
probably damaging |
Het |
Mest |
T |
A |
6: 30,746,330 (GRCm39) |
|
probably benign |
Het |
Nlrp1b |
G |
A |
11: 71,072,682 (GRCm39) |
T387I |
possibly damaging |
Het |
Notch3 |
C |
T |
17: 32,363,721 (GRCm39) |
D1140N |
probably damaging |
Het |
Nxph2 |
A |
G |
2: 23,290,086 (GRCm39) |
N146S |
probably damaging |
Het |
Olfm1 |
T |
C |
2: 28,119,507 (GRCm39) |
C381R |
probably damaging |
Het |
Or56b1b |
T |
A |
7: 108,164,409 (GRCm39) |
R198W |
probably benign |
Het |
Or5p81 |
C |
T |
7: 108,266,869 (GRCm39) |
P82L |
possibly damaging |
Het |
Parp11 |
C |
T |
6: 127,448,526 (GRCm39) |
Q48* |
probably null |
Het |
Pgc |
T |
C |
17: 48,041,591 (GRCm39) |
V175A |
probably benign |
Het |
Pira12 |
A |
G |
7: 3,898,686 (GRCm39) |
V254A |
probably benign |
Het |
Plxna1 |
G |
T |
6: 89,299,732 (GRCm39) |
T1679N |
probably damaging |
Het |
Pnpt1 |
G |
T |
11: 29,088,425 (GRCm39) |
L229F |
possibly damaging |
Het |
Ppp1r12b |
A |
T |
1: 134,819,897 (GRCm39) |
L282Q |
probably damaging |
Het |
Rag2 |
C |
A |
2: 101,460,365 (GRCm39) |
A225D |
possibly damaging |
Het |
Ralgps1 |
T |
C |
2: 33,033,061 (GRCm39) |
D456G |
possibly damaging |
Het |
Rasgrf2 |
T |
A |
13: 92,130,749 (GRCm39) |
T170S |
probably benign |
Het |
Rel |
C |
T |
11: 23,711,155 (GRCm39) |
S4N |
probably benign |
Het |
Rims3 |
C |
T |
4: 120,748,700 (GRCm39) |
S307F |
possibly damaging |
Het |
Rnf123 |
A |
G |
9: 107,946,381 (GRCm39) |
L290P |
probably damaging |
Het |
Rtn4r |
G |
T |
16: 17,969,260 (GRCm39) |
M229I |
possibly damaging |
Het |
Rusc2 |
G |
A |
4: 43,426,116 (GRCm39) |
R1407Q |
probably damaging |
Het |
Sec23ip |
A |
T |
7: 128,354,521 (GRCm39) |
Q259L |
possibly damaging |
Het |
Slc24a4 |
G |
A |
12: 102,189,894 (GRCm39) |
C204Y |
probably benign |
Het |
Slc27a3 |
T |
C |
3: 90,293,859 (GRCm39) |
T542A |
probably damaging |
Het |
Smarcal1 |
A |
T |
1: 72,655,724 (GRCm39) |
I668F |
possibly damaging |
Het |
Snap91 |
C |
A |
9: 86,688,613 (GRCm39) |
V311F |
probably damaging |
Het |
Sp8 |
T |
A |
12: 118,812,705 (GRCm39) |
S187T |
probably damaging |
Het |
Tcerg1 |
T |
C |
18: 42,657,342 (GRCm39) |
S275P |
unknown |
Het |
Vwce |
T |
A |
19: 10,641,773 (GRCm39) |
V833D |
possibly damaging |
Het |
Zbtb8b |
A |
G |
4: 129,327,052 (GRCm39) |
S38P |
probably damaging |
Het |
Zfp598 |
T |
C |
17: 24,900,398 (GRCm39) |
|
probably benign |
Het |
Zkscan4 |
G |
A |
13: 21,668,475 (GRCm39) |
E309K |
possibly damaging |
Het |
|
Other mutations in Krt78 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Krt78
|
APN |
15 |
101,855,945 (GRCm39) |
missense |
probably benign |
0.28 |
IGL01723:Krt78
|
APN |
15 |
101,860,233 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01743:Krt78
|
APN |
15 |
101,859,333 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01778:Krt78
|
APN |
15 |
101,859,402 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01792:Krt78
|
APN |
15 |
101,855,085 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02271:Krt78
|
APN |
15 |
101,857,028 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02481:Krt78
|
APN |
15 |
101,856,853 (GRCm39) |
splice site |
probably benign |
|
IGL02494:Krt78
|
APN |
15 |
101,862,486 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02708:Krt78
|
APN |
15 |
101,861,842 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02747:Krt78
|
APN |
15 |
101,858,819 (GRCm39) |
splice site |
probably benign |
|
IGL02997:Krt78
|
APN |
15 |
101,855,598 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03350:Krt78
|
APN |
15 |
101,854,952 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03410:Krt78
|
APN |
15 |
101,862,421 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4812001:Krt78
|
UTSW |
15 |
101,856,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R0090:Krt78
|
UTSW |
15 |
101,856,272 (GRCm39) |
missense |
probably benign |
0.35 |
R0513:Krt78
|
UTSW |
15 |
101,859,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R0908:Krt78
|
UTSW |
15 |
101,859,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R1067:Krt78
|
UTSW |
15 |
101,854,896 (GRCm39) |
nonsense |
probably null |
|
R1070:Krt78
|
UTSW |
15 |
101,854,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1194:Krt78
|
UTSW |
15 |
101,860,221 (GRCm39) |
missense |
probably damaging |
0.99 |
R1213:Krt78
|
UTSW |
15 |
101,860,245 (GRCm39) |
missense |
probably benign |
0.10 |
R1467:Krt78
|
UTSW |
15 |
101,854,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1467:Krt78
|
UTSW |
15 |
101,854,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1612:Krt78
|
UTSW |
15 |
101,860,279 (GRCm39) |
splice site |
probably null |
|
R1750:Krt78
|
UTSW |
15 |
101,854,812 (GRCm39) |
missense |
probably benign |
0.33 |
R1796:Krt78
|
UTSW |
15 |
101,859,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R1863:Krt78
|
UTSW |
15 |
101,855,004 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1901:Krt78
|
UTSW |
15 |
101,855,398 (GRCm39) |
nonsense |
probably null |
|
R1902:Krt78
|
UTSW |
15 |
101,855,398 (GRCm39) |
nonsense |
probably null |
|
R1975:Krt78
|
UTSW |
15 |
101,854,603 (GRCm39) |
makesense |
probably null |
|
R2105:Krt78
|
UTSW |
15 |
101,855,849 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2418:Krt78
|
UTSW |
15 |
101,855,069 (GRCm39) |
missense |
probably benign |
|
R2421:Krt78
|
UTSW |
15 |
101,855,699 (GRCm39) |
missense |
probably damaging |
0.96 |
R2422:Krt78
|
UTSW |
15 |
101,855,699 (GRCm39) |
missense |
probably damaging |
0.96 |
R2443:Krt78
|
UTSW |
15 |
101,855,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R2897:Krt78
|
UTSW |
15 |
101,855,541 (GRCm39) |
missense |
probably benign |
|
R4422:Krt78
|
UTSW |
15 |
101,856,375 (GRCm39) |
missense |
probably benign |
0.13 |
R4424:Krt78
|
UTSW |
15 |
101,856,375 (GRCm39) |
missense |
probably benign |
0.13 |
R4425:Krt78
|
UTSW |
15 |
101,856,375 (GRCm39) |
missense |
probably benign |
0.13 |
R4583:Krt78
|
UTSW |
15 |
101,855,055 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4752:Krt78
|
UTSW |
15 |
101,856,637 (GRCm39) |
missense |
probably benign |
0.05 |
R4927:Krt78
|
UTSW |
15 |
101,855,334 (GRCm39) |
missense |
probably benign |
0.02 |
R5129:Krt78
|
UTSW |
15 |
101,856,015 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5391:Krt78
|
UTSW |
15 |
101,860,263 (GRCm39) |
nonsense |
probably null |
|
R5575:Krt78
|
UTSW |
15 |
101,855,787 (GRCm39) |
nonsense |
probably null |
|
R5617:Krt78
|
UTSW |
15 |
101,856,044 (GRCm39) |
missense |
probably damaging |
0.99 |
R5806:Krt78
|
UTSW |
15 |
101,858,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R5906:Krt78
|
UTSW |
15 |
101,857,030 (GRCm39) |
missense |
probably damaging |
0.98 |
R5993:Krt78
|
UTSW |
15 |
101,858,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R6520:Krt78
|
UTSW |
15 |
101,860,206 (GRCm39) |
missense |
probably benign |
0.26 |
R6531:Krt78
|
UTSW |
15 |
101,860,708 (GRCm39) |
missense |
probably benign |
0.03 |
R6587:Krt78
|
UTSW |
15 |
101,860,704 (GRCm39) |
missense |
probably benign |
0.10 |
R6749:Krt78
|
UTSW |
15 |
101,859,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R7126:Krt78
|
UTSW |
15 |
101,856,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R7158:Krt78
|
UTSW |
15 |
101,860,241 (GRCm39) |
missense |
probably benign |
0.17 |
R7229:Krt78
|
UTSW |
15 |
101,855,829 (GRCm39) |
missense |
probably benign |
0.01 |
R7523:Krt78
|
UTSW |
15 |
101,855,036 (GRCm39) |
missense |
not run |
|
R7638:Krt78
|
UTSW |
15 |
101,859,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R7879:Krt78
|
UTSW |
15 |
101,856,624 (GRCm39) |
missense |
probably benign |
0.22 |
R8013:Krt78
|
UTSW |
15 |
101,856,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R8085:Krt78
|
UTSW |
15 |
101,855,715 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8209:Krt78
|
UTSW |
15 |
101,855,480 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8226:Krt78
|
UTSW |
15 |
101,855,480 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8309:Krt78
|
UTSW |
15 |
101,854,922 (GRCm39) |
missense |
probably benign |
0.00 |
R8728:Krt78
|
UTSW |
15 |
101,856,225 (GRCm39) |
missense |
probably benign |
0.11 |
R8729:Krt78
|
UTSW |
15 |
101,855,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R8887:Krt78
|
UTSW |
15 |
101,861,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R9008:Krt78
|
UTSW |
15 |
101,855,211 (GRCm39) |
small deletion |
probably benign |
|
X0018:Krt78
|
UTSW |
15 |
101,860,235 (GRCm39) |
missense |
possibly damaging |
0.96 |
Z1088:Krt78
|
UTSW |
15 |
101,855,766 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1177:Krt78
|
UTSW |
15 |
101,856,095 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-10-07 |