Incidental Mutation 'IGL02481:Krt78'
ID |
295233 |
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: 0.089)
|
Stock # |
IGL02481
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 101856853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
AlphaFold |
E9Q0F0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164932
|
SMART Domains |
Protein: ENSMUSP00000126197 Gene: ENSMUSG00000050463
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1b8 |
G |
A |
6: 34,340,729 (GRCm39) |
A209T |
probably damaging |
Het |
Ccdc90b |
G |
A |
7: 92,223,854 (GRCm39) |
V117I |
probably benign |
Het |
Cdkl2 |
A |
T |
5: 92,185,130 (GRCm39) |
I87N |
probably damaging |
Het |
Cfap57 |
T |
A |
4: 118,438,302 (GRCm39) |
E863V |
probably damaging |
Het |
Clca3a2 |
G |
A |
3: 144,790,701 (GRCm39) |
S457L |
possibly damaging |
Het |
Crim1 |
C |
T |
17: 78,658,227 (GRCm39) |
T702I |
probably damaging |
Het |
Cysltr1 |
C |
A |
X: 105,621,728 (GRCm39) |
V253L |
probably damaging |
Het |
Dgcr6 |
G |
A |
16: 17,883,038 (GRCm39) |
A6T |
possibly damaging |
Het |
Dis3l |
T |
C |
9: 64,226,362 (GRCm39) |
|
probably null |
Het |
Dnm3 |
A |
G |
1: 161,838,471 (GRCm39) |
S826P |
probably damaging |
Het |
Dspp |
A |
G |
5: 104,323,514 (GRCm39) |
N219S |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,795,914 (GRCm39) |
|
probably benign |
Het |
Erc2 |
T |
A |
14: 27,375,028 (GRCm39) |
L82Q |
probably damaging |
Het |
Ercc6l |
T |
C |
X: 101,188,275 (GRCm39) |
T745A |
probably benign |
Het |
Gata4 |
T |
C |
14: 63,437,910 (GRCm39) |
T414A |
probably benign |
Het |
Gmps |
A |
G |
3: 63,921,773 (GRCm39) |
D592G |
probably damaging |
Het |
Grin3a |
A |
G |
4: 49,702,868 (GRCm39) |
Y873H |
probably damaging |
Het |
Gsr |
T |
C |
8: 34,175,569 (GRCm39) |
|
probably benign |
Het |
Gtf2h1 |
T |
C |
7: 46,454,417 (GRCm39) |
L133P |
probably damaging |
Het |
Ifna5 |
A |
C |
4: 88,754,327 (GRCm39) |
E189A |
probably benign |
Het |
Irx5 |
A |
G |
8: 93,087,307 (GRCm39) |
Y413C |
probably damaging |
Het |
Kcnk3 |
A |
G |
5: 30,779,727 (GRCm39) |
E259G |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,282,299 (GRCm39) |
|
probably benign |
Het |
Kif19a |
A |
G |
11: 114,679,979 (GRCm39) |
E772G |
probably benign |
Het |
Klhdc7a |
T |
A |
4: 139,693,121 (GRCm39) |
T609S |
probably benign |
Het |
Lca5 |
A |
T |
9: 83,305,170 (GRCm39) |
I212N |
probably damaging |
Het |
Lgr6 |
T |
C |
1: 134,929,429 (GRCm39) |
|
probably benign |
Het |
Madd |
T |
G |
2: 91,008,381 (GRCm39) |
T174P |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,502,033 (GRCm39) |
I184T |
probably damaging |
Het |
Mlycd |
G |
A |
8: 120,137,073 (GRCm39) |
R431H |
probably damaging |
Het |
Myh10 |
G |
A |
11: 68,692,994 (GRCm39) |
A1393T |
probably benign |
Het |
Myof |
G |
T |
19: 37,926,361 (GRCm39) |
Y1144* |
probably null |
Het |
Nbeal2 |
G |
A |
9: 110,455,063 (GRCm39) |
Q2578* |
probably null |
Het |
Nlrp4f |
T |
A |
13: 65,342,548 (GRCm39) |
T366S |
probably benign |
Het |
Nnat |
T |
C |
2: 157,403,167 (GRCm39) |
F36S |
possibly damaging |
Het |
Nsd3 |
C |
A |
8: 26,181,143 (GRCm39) |
P915T |
probably damaging |
Het |
Or10ak12 |
C |
T |
4: 118,666,696 (GRCm39) |
V122M |
probably benign |
Het |
Or10k2 |
A |
C |
8: 84,268,015 (GRCm39) |
M81L |
possibly damaging |
Het |
Or1n1 |
A |
T |
2: 36,749,830 (GRCm39) |
C177S |
probably damaging |
Het |
Or2g25 |
A |
G |
17: 37,970,363 (GRCm39) |
L287P |
probably damaging |
Het |
Or4l1 |
G |
A |
14: 50,166,164 (GRCm39) |
T279I |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,341,414 (GRCm39) |
N89S |
unknown |
Het |
Pkd2 |
T |
C |
5: 104,634,636 (GRCm39) |
F556L |
probably damaging |
Het |
Psen2 |
T |
A |
1: 180,062,626 (GRCm39) |
M239L |
probably damaging |
Het |
Rad50 |
A |
G |
11: 53,570,876 (GRCm39) |
I794T |
probably benign |
Het |
Ralgps1 |
G |
A |
2: 33,230,741 (GRCm39) |
T14I |
probably benign |
Het |
Rnpepl1 |
C |
T |
1: 92,843,629 (GRCm39) |
P250S |
probably damaging |
Het |
Skic8 |
T |
C |
9: 54,635,545 (GRCm39) |
I19V |
probably damaging |
Het |
Slc47a2 |
A |
G |
11: 61,227,067 (GRCm39) |
V167A |
possibly damaging |
Het |
Tmem161b |
T |
A |
13: 84,432,112 (GRCm39) |
V41D |
probably damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,651,611 (GRCm39) |
E308D |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,476,903 (GRCm39) |
E3148K |
probably 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 |
IGL01358:Krt78
|
APN |
15 |
101,854,698 (GRCm39) |
missense |
probably benign |
0.18 |
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 |
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 |
2015-04-16 |