Incidental Mutation 'R7229:Krt78'
ID |
562382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt78
|
Ensembl Gene |
ENSMUSG00000050463 |
Gene Name |
keratin 78 |
Synonyms |
2310030B04Rik |
MMRRC Submission |
045301-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R7229 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101855829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 661
(Y661H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
AlphaFold |
E9Q0F0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164932
AA Change: Y661H
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000126197 Gene: ENSMUSG00000050463 AA Change: Y661H
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (73/73) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,832,809 (GRCm39) |
E122G |
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,682,647 (GRCm39) |
Y880H |
probably damaging |
Het |
Atp13a4 |
A |
G |
16: 29,239,723 (GRCm39) |
S830P |
probably benign |
Het |
Atp1a3 |
T |
A |
7: 24,687,410 (GRCm39) |
Q696L |
probably benign |
Het |
Brox |
G |
A |
1: 183,073,523 (GRCm39) |
R85* |
probably null |
Het |
C130073F10Rik |
T |
C |
4: 101,747,439 (GRCm39) |
I197V |
probably benign |
Het |
Cand2 |
G |
A |
6: 115,768,153 (GRCm39) |
V433M |
probably damaging |
Het |
Cep83 |
A |
G |
10: 94,555,527 (GRCm39) |
K74E |
probably damaging |
Het |
Chrng |
A |
T |
1: 87,137,166 (GRCm39) |
T275S |
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,789,869 (GRCm39) |
D489G |
probably damaging |
Het |
Cmtr1 |
A |
G |
17: 29,914,398 (GRCm39) |
|
probably null |
Het |
Cnga1 |
T |
C |
5: 72,775,592 (GRCm39) |
N43S |
probably benign |
Het |
Cog8 |
A |
T |
8: 107,782,984 (GRCm39) |
C102S |
probably damaging |
Het |
Cpsf3 |
G |
A |
12: 21,346,738 (GRCm39) |
|
probably null |
Het |
Cyp26b1 |
G |
A |
6: 84,554,132 (GRCm39) |
Q162* |
probably null |
Het |
Elmod3 |
A |
G |
6: 72,571,736 (GRCm39) |
F14S |
probably benign |
Het |
Eps8 |
A |
G |
6: 137,516,354 (GRCm39) |
S9P |
probably benign |
Het |
Fam184b |
T |
C |
5: 45,741,517 (GRCm39) |
Q238R |
probably damaging |
Het |
Fbxw7 |
T |
C |
3: 84,884,676 (GRCm39) |
L654S |
unknown |
Het |
Foxp1 |
A |
T |
6: 98,912,373 (GRCm39) |
L580Q |
unknown |
Het |
Galr1 |
A |
G |
18: 82,423,789 (GRCm39) |
S163P |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,258,256 (GRCm39) |
F201L |
possibly damaging |
Het |
Gin1 |
T |
C |
1: 97,712,876 (GRCm39) |
F310L |
probably benign |
Het |
Grik2 |
A |
T |
10: 48,977,512 (GRCm39) |
|
probably null |
Het |
Haus1 |
A |
T |
18: 77,851,834 (GRCm39) |
F94I |
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,760,682 (GRCm39) |
Y409C |
unknown |
Het |
Hspa1l |
A |
G |
17: 35,196,231 (GRCm39) |
K90R |
probably benign |
Het |
Icam5 |
T |
C |
9: 20,948,297 (GRCm39) |
S702P |
possibly damaging |
Het |
Ifnar1 |
A |
G |
16: 91,296,444 (GRCm39) |
H315R |
probably benign |
Het |
Klra9 |
T |
C |
6: 130,168,224 (GRCm39) |
H14R |
probably damaging |
Het |
Krtap11-1 |
T |
C |
16: 89,367,813 (GRCm39) |
T69A |
possibly damaging |
Het |
L3mbtl3 |
C |
A |
10: 26,168,560 (GRCm39) |
S598I |
unknown |
Het |
Lama1 |
A |
T |
17: 68,059,441 (GRCm39) |
D608V |
|
Het |
Lrrc55 |
G |
A |
2: 85,026,784 (GRCm39) |
T80I |
probably damaging |
Het |
Lyst |
A |
T |
13: 13,818,094 (GRCm39) |
T1255S |
probably benign |
Het |
Magi2 |
T |
C |
5: 20,670,586 (GRCm39) |
V310A |
probably damaging |
Het |
Med23 |
C |
A |
10: 24,777,902 (GRCm39) |
A750D |
probably benign |
Het |
Mmp2 |
G |
A |
8: 93,558,414 (GRCm39) |
R161Q |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,387,321 (GRCm39) |
I733F |
probably benign |
Het |
Ncan |
A |
T |
8: 70,552,961 (GRCm39) |
F1090L |
possibly damaging |
Het |
Or2ag2b |
T |
G |
7: 106,418,202 (GRCm39) |
V304G |
probably damaging |
Het |
Otulinl |
G |
A |
15: 27,658,273 (GRCm39) |
T199M |
probably benign |
Het |
Pafah1b1 |
A |
G |
11: 74,573,104 (GRCm39) |
I320T |
probably damaging |
Het |
Pcdhb1 |
T |
A |
18: 37,399,740 (GRCm39) |
Y564N |
probably damaging |
Het |
Pear1 |
A |
G |
3: 87,657,596 (GRCm39) |
S988P |
probably benign |
Het |
Pgam2 |
A |
C |
11: 5,753,013 (GRCm39) |
V194G |
probably damaging |
Het |
Plvap |
A |
T |
8: 71,964,221 (GRCm39) |
I47N |
probably damaging |
Het |
Prdx6 |
A |
T |
1: 161,074,867 (GRCm39) |
L71H |
probably damaging |
Het |
Psmb11 |
G |
A |
14: 54,863,408 (GRCm39) |
V209M |
probably damaging |
Het |
Ptprn2 |
G |
A |
12: 117,190,845 (GRCm39) |
|
probably null |
Het |
Rcn2 |
T |
A |
9: 55,964,763 (GRCm39) |
N240K |
probably benign |
Het |
Rsad2 |
A |
T |
12: 26,504,122 (GRCm39) |
Y136N |
probably damaging |
Het |
Slc12a4 |
T |
G |
8: 106,673,369 (GRCm39) |
Q734P |
probably benign |
Het |
Smarcc2 |
T |
A |
10: 128,323,917 (GRCm39) |
M1085K |
unknown |
Het |
Smg1 |
A |
T |
7: 117,776,178 (GRCm39) |
C1371S |
probably benign |
Het |
Spg11 |
A |
T |
2: 121,938,585 (GRCm39) |
F456L |
probably damaging |
Het |
Srsf10 |
C |
T |
4: 135,583,528 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,673,931 (GRCm39) |
Y4C |
probably damaging |
Het |
Tdrd12 |
T |
A |
7: 35,179,705 (GRCm39) |
D881V |
unknown |
Het |
Tmem171 |
T |
C |
13: 98,829,133 (GRCm39) |
T6A |
probably benign |
Het |
Tmem220 |
T |
C |
11: 66,916,989 (GRCm39) |
L55P |
unknown |
Het |
Ttn |
G |
T |
2: 76,677,125 (GRCm39) |
P11037Q |
unknown |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,692,084 (GRCm39) |
S849P |
probably benign |
Het |
Vcan |
G |
A |
13: 89,853,389 (GRCm39) |
P524S |
possibly damaging |
Het |
Vmn1r18 |
A |
G |
6: 57,367,083 (GRCm39) |
M157T |
probably benign |
Het |
Vmn2r109 |
A |
T |
17: 20,761,225 (GRCm39) |
C711S |
possibly damaging |
Het |
Wasf3 |
C |
T |
5: 146,392,463 (GRCm39) |
R178C |
probably damaging |
Het |
Wdr76 |
G |
A |
2: 121,359,401 (GRCm39) |
V231I |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,355,895 (GRCm39) |
N3552I |
probably damaging |
Het |
Zfp804a |
A |
G |
2: 82,088,969 (GRCm39) |
T933A |
probably benign |
Het |
Zmynd8 |
A |
G |
2: 165,699,973 (GRCm39) |
|
probably null |
Het |
Zranb3 |
A |
T |
1: 127,968,630 (GRCm39) |
I95K |
probably benign |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAGATTCTCTTCCAGGCATG -3'
(R):5'- GTGACCATTCCTGGAAGAGAATC -3'
Sequencing Primer
(F):5'- CCAGGCATGGTCACTTGAC -3'
(R):5'- CCATTCCTGGAAGAGAATCTGGAG -3'
|
Posted On |
2019-06-26 |