Incidental Mutation 'R7158:Krt78'
ID |
557470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt78
|
Ensembl Gene |
ENSMUSG00000050463 |
Gene Name |
keratin 78 |
Synonyms |
2310030B04Rik |
MMRRC Submission |
045329-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R7158 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 101860241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 225
(D225V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
AlphaFold |
E9Q0F0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164932
AA Change: D225V
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000126197 Gene: ENSMUSG00000050463 AA Change: D225V
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (68/68) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,223,982 (GRCm39) |
M454L |
probably benign |
Het |
Abca8b |
T |
A |
11: 109,825,415 (GRCm39) |
E1595V |
probably damaging |
Het |
Actr5 |
T |
A |
2: 158,468,334 (GRCm39) |
C155S |
possibly damaging |
Het |
Acvr1b |
T |
A |
15: 101,091,939 (GRCm39) |
V73E |
probably benign |
Het |
Add2 |
T |
C |
6: 86,062,934 (GRCm39) |
Y31H |
probably damaging |
Het |
Akap13 |
G |
T |
7: 75,229,342 (GRCm39) |
V92F |
probably damaging |
Het |
Alox8 |
T |
A |
11: 69,076,696 (GRCm39) |
M568L |
probably benign |
Het |
Birc6 |
A |
T |
17: 74,901,371 (GRCm39) |
E1145V |
probably benign |
Het |
Bltp3a |
T |
A |
17: 28,105,407 (GRCm39) |
C644* |
probably null |
Het |
Cacng1 |
A |
T |
11: 107,594,665 (GRCm39) |
M166K |
probably damaging |
Het |
Ces1f |
A |
G |
8: 93,994,644 (GRCm39) |
F256L |
probably benign |
Het |
Clpb |
A |
G |
7: 101,313,039 (GRCm39) |
R8G |
probably benign |
Het |
Col6a5 |
A |
G |
9: 105,741,407 (GRCm39) |
V2504A |
possibly damaging |
Het |
Coq8a |
T |
C |
1: 180,006,749 (GRCm39) |
D93G |
probably benign |
Het |
Cry2 |
A |
T |
2: 92,244,060 (GRCm39) |
I371N |
probably damaging |
Het |
Ddx43 |
A |
C |
9: 78,319,501 (GRCm39) |
Q276H |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,564,589 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,313,366 (GRCm39) |
T4378A |
probably benign |
Het |
Fezf1 |
T |
C |
6: 23,245,789 (GRCm39) |
T459A |
probably benign |
Het |
Gm10097 |
C |
T |
10: 5,019,407 (GRCm39) |
A72V |
unknown |
Het |
Hydin |
A |
G |
8: 111,336,303 (GRCm39) |
S5027G |
possibly damaging |
Het |
Inhbb |
A |
T |
1: 119,348,752 (GRCm39) |
L22* |
probably null |
Het |
Kat8 |
G |
A |
7: 127,521,331 (GRCm39) |
G228S |
probably benign |
Het |
Kif15 |
T |
A |
9: 122,828,379 (GRCm39) |
S897T |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,511,773 (GRCm39) |
Y1460C |
possibly damaging |
Het |
Lama3 |
A |
T |
18: 12,589,869 (GRCm39) |
I800F |
probably benign |
Het |
Mdn1 |
C |
A |
4: 32,725,121 (GRCm39) |
T2580K |
probably benign |
Het |
Mest |
T |
C |
6: 30,744,913 (GRCm39) |
F201S |
possibly damaging |
Het |
Mtmr9 |
A |
G |
14: 63,764,318 (GRCm39) |
F470L |
probably benign |
Het |
Nfic |
C |
T |
10: 81,256,439 (GRCm39) |
R75Q |
probably damaging |
Het |
Nme2 |
G |
A |
11: 93,846,484 (GRCm39) |
|
probably benign |
Het |
Nrg4 |
A |
G |
9: 55,149,384 (GRCm39) |
L71P |
probably damaging |
Het |
Pacsin2 |
C |
T |
15: 83,263,943 (GRCm39) |
E365K |
possibly damaging |
Het |
Pappa |
T |
C |
4: 65,123,104 (GRCm39) |
I813T |
possibly damaging |
Het |
Pcdhgb4 |
A |
G |
18: 37,853,938 (GRCm39) |
E111G |
probably damaging |
Het |
Pdzd8 |
C |
T |
19: 59,288,589 (GRCm39) |
R937H |
probably damaging |
Het |
Per1 |
T |
G |
11: 68,994,930 (GRCm39) |
|
probably benign |
Het |
Pex2 |
A |
G |
3: 5,626,396 (GRCm39) |
F138L |
probably benign |
Het |
Pold1 |
A |
T |
7: 44,188,290 (GRCm39) |
N529K |
probably damaging |
Het |
Pou6f2 |
T |
C |
13: 18,326,623 (GRCm39) |
I316V |
|
Het |
Prom1 |
A |
C |
5: 44,170,255 (GRCm39) |
I682S |
probably damaging |
Het |
Prpf40a |
T |
C |
2: 53,042,565 (GRCm39) |
K481E |
probably damaging |
Het |
Prrg4 |
A |
T |
2: 104,662,958 (GRCm39) |
V216E |
probably damaging |
Het |
Ptch2 |
C |
T |
4: 116,971,981 (GRCm39) |
P1168S |
possibly damaging |
Het |
Pvr |
C |
A |
7: 19,652,562 (GRCm39) |
E118* |
probably null |
Het |
R3hcc1l |
C |
T |
19: 42,571,868 (GRCm39) |
P716S |
probably damaging |
Het |
Rasa4 |
A |
G |
5: 136,130,875 (GRCm39) |
E382G |
probably damaging |
Het |
Rbp3 |
T |
A |
14: 33,677,513 (GRCm39) |
M487K |
probably benign |
Het |
Rsad2 |
A |
T |
12: 26,500,779 (GRCm39) |
|
probably null |
Het |
Shmt1 |
T |
C |
11: 60,681,068 (GRCm39) |
I353V |
probably benign |
Het |
Shprh |
C |
T |
10: 11,042,474 (GRCm39) |
T819I |
probably damaging |
Het |
Skap1 |
T |
A |
11: 96,416,883 (GRCm39) |
F56Y |
possibly damaging |
Het |
Slc22a16 |
G |
T |
10: 40,449,737 (GRCm39) |
V79L |
possibly damaging |
Het |
Slc34a1 |
A |
G |
13: 55,549,044 (GRCm39) |
T165A |
probably damaging |
Het |
Smchd1 |
A |
C |
17: 71,707,145 (GRCm39) |
I941R |
probably damaging |
Het |
Syne1 |
C |
A |
10: 5,007,931 (GRCm39) |
V98F |
probably damaging |
Het |
Tcaim |
A |
G |
9: 122,648,055 (GRCm39) |
D190G |
possibly damaging |
Het |
Tdrd9 |
G |
C |
12: 112,002,800 (GRCm39) |
E816D |
probably benign |
Het |
Tmem132d |
T |
C |
5: 128,214,083 (GRCm39) |
K326E |
possibly damaging |
Het |
Usp35 |
T |
C |
7: 96,975,171 (GRCm39) |
M1V |
probably null |
Het |
Wdr62 |
C |
T |
7: 29,970,163 (GRCm39) |
V215I |
possibly damaging |
Het |
Zan |
T |
C |
5: 137,398,906 (GRCm39) |
T4153A |
unknown |
Het |
Zfp239 |
G |
T |
6: 117,848,690 (GRCm39) |
E143* |
probably null |
Het |
Zfp292 |
T |
C |
4: 34,808,679 (GRCm39) |
D1460G |
probably benign |
Het |
Zfp647 |
C |
T |
15: 76,801,505 (GRCm39) |
G90R |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAAGCTATTCTAACAGGCTTCCCC -3'
(R):5'- AGGCTCTGGGCTTACTACAG -3'
Sequencing Primer
(F):5'- AGGCTTCCCCTCCTTGGAG -3'
(R):5'- GCTTACTACAGGGTGGCAAG -3'
|
Posted On |
2019-06-26 |