Incidental Mutation 'IGL00089:Krt78'
ID |
877 |
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 # |
IGL00089
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 101855945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 622
(T622I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
AlphaFold |
E9Q0F0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164932
AA Change: T622I
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000126197 Gene: ENSMUSG00000050463 AA Change: T622I
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
T |
C |
5: 138,645,854 (GRCm39) |
S580P |
probably damaging |
Het |
Abca12 |
T |
A |
1: 71,342,700 (GRCm39) |
I927F |
possibly damaging |
Het |
Abca8a |
A |
G |
11: 109,941,765 (GRCm39) |
V1168A |
possibly damaging |
Het |
Abcc1 |
T |
A |
16: 14,278,847 (GRCm39) |
N1052K |
probably benign |
Het |
Adamts13 |
C |
A |
2: 26,895,373 (GRCm39) |
Q1155K |
probably benign |
Het |
Adgre4 |
A |
T |
17: 56,098,915 (GRCm39) |
|
probably benign |
Het |
Ahsa2 |
T |
C |
11: 23,446,837 (GRCm39) |
E42G |
probably damaging |
Het |
Ankk1 |
T |
G |
9: 49,333,200 (GRCm39) |
I95L |
probably benign |
Het |
Anpep |
A |
T |
7: 79,491,734 (GRCm39) |
L89Q |
probably damaging |
Het |
Arl5a |
T |
C |
2: 52,306,083 (GRCm39) |
N83S |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,863,525 (GRCm39) |
|
probably null |
Het |
Atp6v0a2 |
T |
C |
5: 124,798,841 (GRCm39) |
F849L |
probably benign |
Het |
BC106179 |
A |
G |
16: 23,043,022 (GRCm39) |
|
probably benign |
Het |
Bcl2a1c |
T |
C |
9: 114,159,608 (GRCm39) |
*129Q |
probably null |
Het |
C2cd5 |
T |
C |
6: 142,963,671 (GRCm39) |
I888V |
probably null |
Het |
Calb2 |
A |
T |
8: 110,872,303 (GRCm39) |
L227Q |
probably damaging |
Het |
Ccp110 |
G |
T |
7: 118,321,647 (GRCm39) |
C434F |
possibly damaging |
Het |
Cd209c |
A |
T |
8: 3,990,339 (GRCm39) |
C160S |
probably damaging |
Het |
Chmp1a |
A |
G |
8: 123,935,758 (GRCm39) |
|
probably null |
Het |
Col6a6 |
T |
A |
9: 105,635,390 (GRCm39) |
|
probably null |
Het |
Cyld |
T |
A |
8: 89,432,085 (GRCm39) |
C28S |
probably benign |
Het |
Dapk1 |
A |
T |
13: 60,908,854 (GRCm39) |
I1156F |
probably benign |
Het |
Dennd1a |
A |
T |
2: 38,133,454 (GRCm39) |
Y16* |
probably null |
Het |
Dennd3 |
T |
G |
15: 73,438,982 (GRCm39) |
S1117A |
probably benign |
Het |
Dgka |
A |
T |
10: 128,568,955 (GRCm39) |
D203E |
probably damaging |
Het |
Dhx15 |
G |
T |
5: 52,324,117 (GRCm39) |
L392I |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,823,680 (GRCm39) |
D567G |
probably benign |
Het |
Eaf1 |
T |
A |
14: 31,226,483 (GRCm39) |
|
probably null |
Het |
Efnb2 |
T |
C |
8: 8,710,589 (GRCm39) |
D9G |
probably benign |
Het |
Fcrla |
A |
T |
1: 170,755,067 (GRCm39) |
C15S |
probably benign |
Het |
Flt3 |
T |
C |
5: 147,291,686 (GRCm39) |
N588S |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,945,412 (GRCm39) |
|
probably benign |
Het |
Gm10146 |
A |
T |
10: 78,229,307 (GRCm39) |
|
noncoding transcript |
Het |
Gnpat |
T |
C |
8: 125,603,653 (GRCm39) |
|
probably benign |
Het |
Golm2 |
T |
C |
2: 121,741,274 (GRCm39) |
|
probably benign |
Het |
Gpr39 |
A |
C |
1: 125,800,468 (GRCm39) |
R406S |
probably benign |
Het |
H2-Aa |
T |
C |
17: 34,503,504 (GRCm39) |
H31R |
probably damaging |
Het |
Helz2 |
G |
T |
2: 180,871,495 (GRCm39) |
R2706S |
probably damaging |
Het |
Hip1r |
T |
A |
5: 124,127,798 (GRCm39) |
|
probably null |
Het |
Hnf4g |
A |
G |
3: 3,713,142 (GRCm39) |
T239A |
probably benign |
Het |
Hps5 |
A |
T |
7: 46,425,362 (GRCm39) |
I413N |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,256,131 (GRCm39) |
G1413R |
probably damaging |
Het |
Itgax |
T |
G |
7: 127,734,498 (GRCm39) |
M352R |
probably damaging |
Het |
Katna1 |
T |
A |
10: 7,638,568 (GRCm39) |
M433K |
probably damaging |
Het |
Kcna4 |
T |
G |
2: 107,126,207 (GRCm39) |
S314A |
probably damaging |
Het |
Kif13b |
C |
T |
14: 64,907,142 (GRCm39) |
T42I |
possibly damaging |
Het |
Krt86 |
T |
A |
15: 101,374,396 (GRCm39) |
M263K |
possibly damaging |
Het |
Lap3 |
A |
G |
5: 45,663,511 (GRCm39) |
|
probably benign |
Het |
Lepr |
A |
T |
4: 101,672,232 (GRCm39) |
R1085S |
probably benign |
Het |
Lmcd1 |
A |
G |
6: 112,306,769 (GRCm39) |
I314V |
probably benign |
Het |
Luc7l2 |
T |
C |
6: 38,585,105 (GRCm39) |
|
probably benign |
Het |
Mcm2 |
T |
A |
6: 88,870,383 (GRCm39) |
M117L |
probably benign |
Het |
Mdh2 |
T |
C |
5: 135,815,138 (GRCm39) |
Y133H |
probably damaging |
Het |
Minar1 |
C |
T |
9: 89,483,853 (GRCm39) |
V515I |
probably benign |
Het |
Mlkl |
T |
A |
8: 112,046,060 (GRCm39) |
R317* |
probably null |
Het |
Mrps34 |
T |
C |
17: 25,114,344 (GRCm39) |
L68P |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Myo18a |
A |
G |
11: 77,738,764 (GRCm39) |
E1299G |
probably damaging |
Het |
Nlrp14 |
T |
C |
7: 106,791,709 (GRCm39) |
L139P |
possibly damaging |
Het |
Nudcd2 |
A |
G |
11: 40,627,413 (GRCm39) |
D86G |
probably damaging |
Het |
Or10u4 |
T |
A |
10: 129,801,673 (GRCm39) |
R293W |
probably damaging |
Het |
Or4c107 |
T |
A |
2: 88,789,110 (GRCm39) |
I100N |
probably damaging |
Het |
Or4f62 |
A |
T |
2: 111,986,412 (GRCm39) |
M39L |
probably benign |
Het |
Patj |
T |
C |
4: 98,353,343 (GRCm39) |
F629L |
probably damaging |
Het |
Rad23a |
A |
G |
8: 85,562,524 (GRCm39) |
F280L |
probably damaging |
Het |
Ralgapa1 |
C |
A |
12: 55,769,558 (GRCm39) |
G811V |
probably damaging |
Het |
St18 |
A |
G |
1: 6,872,796 (GRCm39) |
D177G |
probably benign |
Het |
Sult1c2 |
A |
C |
17: 54,140,147 (GRCm39) |
Y159* |
probably null |
Het |
Surf6 |
T |
A |
2: 26,783,081 (GRCm39) |
|
probably null |
Het |
Susd6 |
T |
G |
12: 80,916,841 (GRCm39) |
|
probably benign |
Het |
Sypl2 |
G |
A |
3: 108,133,742 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
T |
15: 37,984,280 (GRCm39) |
F2289Y |
probably damaging |
Het |
Vcl |
T |
C |
14: 21,037,071 (GRCm39) |
I223T |
probably benign |
Het |
Vmn1r234 |
C |
T |
17: 21,449,860 (GRCm39) |
T258I |
possibly damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,513,854 (GRCm39) |
K263M |
possibly damaging |
Het |
Vmo1 |
A |
T |
11: 70,404,424 (GRCm39) |
N192K |
probably damaging |
Het |
Wrnip1 |
A |
G |
13: 33,000,312 (GRCm39) |
N440D |
probably damaging |
Het |
Zc3h4 |
T |
C |
7: 16,156,159 (GRCm39) |
Y264H |
unknown |
Het |
Zfp639 |
T |
G |
3: 32,573,902 (GRCm39) |
|
probably null |
Het |
Zfp831 |
T |
C |
2: 174,488,078 (GRCm39) |
Y918H |
possibly damaging |
Het |
|
Other mutations in Krt78 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-07-12 |