Incidental Mutation 'PIT4812001:Krt78'
ID |
556937 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt78
|
Ensembl Gene |
ENSMUSG00000050463 |
Gene Name |
keratin 78 |
Synonyms |
2310030B04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
PIT4812001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101856504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 436
(V436M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
AlphaFold |
E9Q0F0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164932
AA Change: V436M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126197 Gene: ENSMUSG00000050463 AA Change: V436M
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: 93.8%
- 3x: 91.0%
- 10x: 85.3%
- 20x: 73.0%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
C |
18: 6,630,053 (GRCm39) |
S252P |
possibly damaging |
Het |
4933409G03Rik |
G |
A |
2: 68,419,292 (GRCm39) |
V14I |
probably benign |
Het |
Adgrf5 |
T |
G |
17: 43,761,260 (GRCm39) |
V985G |
probably damaging |
Het |
Ankrd44 |
A |
T |
1: 54,762,197 (GRCm39) |
Y542* |
probably null |
Het |
Atp13a3 |
T |
C |
16: 30,181,396 (GRCm39) |
T75A |
probably damaging |
Het |
Atr |
T |
C |
9: 95,792,702 (GRCm39) |
F1675L |
probably benign |
Het |
Atrnl1 |
A |
G |
19: 57,720,055 (GRCm39) |
I1082V |
probably benign |
Het |
Clip1 |
T |
A |
5: 123,768,738 (GRCm39) |
R620S |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,122,293 (GRCm39) |
F391S |
probably benign |
Het |
Cracr2a |
T |
C |
6: 127,602,833 (GRCm39) |
L230P |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,176,744 (GRCm39) |
V1266E |
possibly damaging |
Het |
Dlg1 |
T |
A |
16: 31,665,703 (GRCm39) |
F687I |
probably benign |
Het |
Dnah8 |
C |
A |
17: 30,927,419 (GRCm39) |
D1358E |
probably benign |
Het |
Dnajc11 |
A |
G |
4: 152,037,346 (GRCm39) |
R84G |
probably benign |
Het |
Dnajc14 |
C |
A |
10: 128,642,552 (GRCm39) |
T158N |
probably damaging |
Het |
Dscc1 |
A |
G |
15: 54,945,657 (GRCm39) |
L346P |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,990,805 (GRCm39) |
I71V |
probably null |
Het |
Erbb3 |
T |
A |
10: 128,410,248 (GRCm39) |
Q670L |
possibly damaging |
Het |
Ercc4 |
G |
A |
16: 12,962,311 (GRCm39) |
E652K |
probably benign |
Het |
Ercc6l2 |
T |
A |
13: 64,006,071 (GRCm39) |
V591D |
possibly damaging |
Het |
Fam3c |
C |
T |
6: 22,321,369 (GRCm39) |
G134E |
probably damaging |
Het |
Frmd5 |
A |
G |
2: 121,416,927 (GRCm39) |
V70A |
probably benign |
Het |
Gjd3 |
A |
T |
11: 102,691,807 (GRCm39) |
Y65* |
probably null |
Het |
Gm3033 |
A |
C |
14: 3,848,891 (GRCm38) |
L137F |
|
Het |
Gria4 |
C |
A |
9: 4,427,128 (GRCm39) |
A771S |
probably damaging |
Het |
Hc |
A |
G |
2: 34,919,464 (GRCm39) |
L674P |
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Hycc2 |
T |
G |
1: 58,587,862 (GRCm39) |
D117A |
possibly damaging |
Het |
Inpp5f |
A |
T |
7: 128,294,032 (GRCm39) |
Y696F |
probably benign |
Het |
Itga11 |
C |
A |
9: 62,639,475 (GRCm39) |
Q157K |
probably damaging |
Het |
Itgb5 |
G |
T |
16: 33,740,357 (GRCm39) |
C489F |
probably damaging |
Het |
Klhl38 |
C |
T |
15: 58,185,938 (GRCm39) |
G264S |
probably benign |
Het |
Mia2 |
A |
T |
12: 59,148,365 (GRCm39) |
D75V |
possibly damaging |
Het |
Mphosph6 |
T |
A |
8: 118,525,888 (GRCm39) |
Q20L |
probably damaging |
Het |
Ogfr |
C |
T |
2: 180,237,304 (GRCm39) |
P630S |
possibly damaging |
Het |
Or2c1 |
A |
T |
16: 3,657,394 (GRCm39) |
K186* |
probably null |
Het |
Or4c11 |
G |
A |
2: 88,695,314 (GRCm39) |
V122M |
probably benign |
Het |
Or5an9 |
T |
G |
19: 12,187,617 (GRCm39) |
I229S |
probably damaging |
Het |
Pbx3 |
T |
C |
2: 34,114,631 (GRCm39) |
E101G |
probably damaging |
Het |
Pcca |
T |
A |
14: 123,027,794 (GRCm39) |
N587K |
probably benign |
Het |
Pdia3 |
G |
T |
2: 121,264,011 (GRCm39) |
A287S |
probably damaging |
Het |
Pfas |
T |
A |
11: 68,880,862 (GRCm39) |
D209V |
|
Het |
Pramel29 |
A |
G |
4: 143,936,086 (GRCm39) |
I56T |
probably benign |
Het |
Pter |
A |
T |
2: 12,985,179 (GRCm39) |
I170F |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,502,428 (GRCm39) |
V830E |
probably damaging |
Het |
Rab11fip5 |
T |
C |
6: 85,318,540 (GRCm39) |
D783G |
probably benign |
Het |
Rbm19 |
T |
C |
5: 120,266,315 (GRCm39) |
V446A |
possibly damaging |
Het |
Selp |
A |
G |
1: 163,959,832 (GRCm39) |
N363D |
probably benign |
Het |
Six2 |
C |
A |
17: 85,992,729 (GRCm39) |
S258I |
possibly damaging |
Het |
Smc1b |
A |
G |
15: 84,953,852 (GRCm39) |
V1139A |
possibly damaging |
Het |
Sp1 |
A |
G |
15: 102,316,843 (GRCm39) |
T121A |
possibly damaging |
Het |
Sucla2 |
A |
T |
14: 73,816,889 (GRCm39) |
I210L |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,176,980 (GRCm39) |
L339P |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,973,635 (GRCm39) |
D794E |
probably benign |
Het |
Usp32 |
C |
T |
11: 84,900,900 (GRCm39) |
V1107I |
probably damaging |
Het |
Vmn1r195 |
T |
C |
13: 22,463,033 (GRCm39) |
Y168H |
probably benign |
Het |
Vmn1r223 |
A |
G |
13: 23,434,060 (GRCm39) |
N218S |
probably damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,800,447 (GRCm39) |
S632C |
probably damaging |
Het |
Vwa3a |
A |
T |
7: 120,375,356 (GRCm39) |
K390I |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,251,661 (GRCm39) |
C80* |
probably null |
Het |
Zic1 |
A |
T |
9: 91,246,394 (GRCm39) |
I226N |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACATTCTCCTCTAGGCACG -3'
(R):5'- TAGTCACTAAGGGCAACTAACC -3'
Sequencing Primer
(F):5'- TCTAGGCACGGTCACCTG -3'
(R):5'- GGGGATTACAGTCTTTACAGCC -3'
|
Posted On |
2019-06-07 |