Incidental Mutation 'R1975:Krt78'
ID |
221639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt78
|
Ensembl Gene |
ENSMUSG00000050463 |
Gene Name |
keratin 78 |
Synonyms |
2310030B04Rik |
MMRRC Submission |
039988-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R1975 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 101854603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 1069
(*1069W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
AlphaFold |
E9Q0F0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000164932
AA Change: *1069W
|
SMART Domains |
Protein: ENSMUSP00000126197 Gene: ENSMUSG00000050463 AA Change: *1069W
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 |
0.8557 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
96% (71/74) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad12 |
T |
C |
5: 121,742,322 (GRCm39) |
T429A |
probably benign |
Het |
Afmid |
A |
C |
11: 117,727,300 (GRCm39) |
I275L |
probably benign |
Het |
Aimp1 |
A |
C |
3: 132,382,860 (GRCm39) |
D5E |
possibly damaging |
Het |
Aldob |
G |
A |
4: 49,538,171 (GRCm39) |
A319V |
probably benign |
Het |
Ankar |
C |
T |
1: 72,697,600 (GRCm39) |
V1068I |
possibly damaging |
Het |
Ccr2 |
C |
T |
9: 123,906,830 (GRCm39) |
S370L |
probably benign |
Het |
Chrnb4 |
A |
G |
9: 54,942,102 (GRCm39) |
Y391H |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,761,281 (GRCm39) |
M873T |
possibly damaging |
Het |
Cspg4 |
G |
C |
9: 56,797,762 (GRCm39) |
G1409R |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,987,362 (GRCm39) |
L1320* |
probably null |
Het |
Dock4 |
T |
C |
12: 40,829,641 (GRCm39) |
|
probably benign |
Het |
Eml4 |
T |
C |
17: 83,717,622 (GRCm39) |
S65P |
probably benign |
Het |
Fblim1 |
A |
T |
4: 141,312,175 (GRCm39) |
D183E |
probably damaging |
Het |
Foxn1 |
T |
C |
11: 78,256,763 (GRCm39) |
|
probably benign |
Het |
Gm973 |
A |
T |
1: 59,601,930 (GRCm39) |
T515S |
possibly damaging |
Het |
Hdac7 |
G |
A |
15: 97,704,386 (GRCm39) |
Q495* |
probably null |
Het |
Hipk3 |
T |
C |
2: 104,301,518 (GRCm39) |
I225V |
probably benign |
Het |
Hrc |
A |
T |
7: 44,985,638 (GRCm39) |
D263V |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 119,375,888 (GRCm39) |
I21T |
probably benign |
Het |
Il15ra |
A |
G |
2: 11,728,334 (GRCm39) |
T133A |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,586,920 (GRCm39) |
M761K |
probably damaging |
Het |
Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,383,005 (GRCm39) |
T1320A |
probably damaging |
Het |
Mark3 |
A |
T |
12: 111,581,875 (GRCm39) |
I115L |
probably damaging |
Het |
Mcph1 |
T |
G |
8: 18,739,081 (GRCm39) |
|
probably benign |
Het |
Med23 |
T |
A |
10: 24,786,664 (GRCm39) |
N923K |
probably benign |
Het |
Msrb2 |
T |
G |
2: 19,398,032 (GRCm39) |
Y97D |
probably damaging |
Het |
Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
Mylk |
T |
C |
16: 34,700,673 (GRCm39) |
|
probably null |
Het |
Nfrkb |
T |
A |
9: 31,325,980 (GRCm39) |
V1141E |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,958,555 (GRCm39) |
E3675G |
probably damaging |
Het |
Or11h7 |
T |
A |
14: 50,890,821 (GRCm39) |
N42K |
probably damaging |
Het |
Or2l5 |
G |
A |
16: 19,333,586 (GRCm39) |
P267S |
probably damaging |
Het |
Or2t6 |
A |
T |
14: 14,175,446 (GRCm38) |
V212E |
probably damaging |
Het |
Or51aa2 |
A |
T |
7: 103,188,201 (GRCm39) |
F80Y |
probably damaging |
Het |
Or52z14 |
A |
G |
7: 103,253,219 (GRCm39) |
|
probably null |
Het |
Or5ac21 |
T |
C |
16: 59,124,091 (GRCm39) |
S193P |
probably damaging |
Het |
Or8k21 |
C |
G |
2: 86,145,498 (GRCm39) |
G44A |
probably damaging |
Het |
Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
Pdgfc |
C |
T |
3: 81,116,552 (GRCm39) |
T302I |
probably damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,393,109 (GRCm39) |
V1815F |
probably damaging |
Het |
Pnpt1 |
A |
G |
11: 29,091,256 (GRCm39) |
I337V |
probably benign |
Het |
Psma8 |
T |
G |
18: 14,864,033 (GRCm39) |
|
probably null |
Het |
Rbl2 |
T |
C |
8: 91,812,090 (GRCm39) |
S220P |
probably benign |
Het |
Rere |
T |
A |
4: 150,700,190 (GRCm39) |
D1091E |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,197,002 (GRCm39) |
C540R |
probably damaging |
Het |
Sema3d |
T |
A |
5: 12,613,285 (GRCm39) |
V454E |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,634,965 (GRCm39) |
V677A |
probably benign |
Het |
Sgk2 |
A |
G |
2: 162,846,080 (GRCm39) |
N207S |
probably benign |
Het |
Sirpb1a |
T |
C |
3: 15,444,141 (GRCm39) |
I370V |
probably benign |
Het |
Slc22a19 |
A |
G |
19: 7,661,224 (GRCm39) |
|
probably benign |
Het |
Slc26a1 |
T |
A |
5: 108,820,338 (GRCm39) |
D287V |
probably damaging |
Het |
Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
Slco1b2 |
A |
T |
6: 141,628,951 (GRCm39) |
Y551F |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,956,653 (GRCm39) |
Y488* |
probably null |
Het |
Stab2 |
A |
C |
10: 86,732,360 (GRCm39) |
|
probably null |
Het |
Strn |
T |
C |
17: 78,999,928 (GRCm39) |
|
probably null |
Het |
Tbxas1 |
A |
G |
6: 38,925,575 (GRCm39) |
|
probably benign |
Het |
Thumpd3 |
A |
G |
6: 113,032,838 (GRCm39) |
N192S |
possibly damaging |
Het |
Tns3 |
T |
A |
11: 8,385,738 (GRCm39) |
I1386F |
probably benign |
Het |
Treml4 |
T |
A |
17: 48,579,821 (GRCm39) |
V219E |
probably damaging |
Het |
Triobp |
T |
C |
15: 78,850,908 (GRCm39) |
V354A |
probably benign |
Het |
Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
Tub |
G |
A |
7: 108,627,042 (GRCm39) |
G314R |
possibly damaging |
Het |
Ube3b |
C |
T |
5: 114,537,926 (GRCm39) |
T339M |
possibly damaging |
Het |
Vmn2r43 |
A |
G |
7: 8,258,550 (GRCm39) |
I221T |
possibly damaging |
Het |
Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
Zfp110 |
C |
T |
7: 12,582,429 (GRCm39) |
T359I |
probably benign |
Het |
Zfp322a |
A |
T |
13: 23,541,074 (GRCm39) |
C223S |
probably damaging |
Het |
Zfp512b |
G |
A |
2: 181,228,878 (GRCm39) |
R696* |
probably null |
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 |
|
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'- AGTATGCAGAGCAGGACCTG -3'
(R):5'- TCCATGCCCAGAGGAGAATG -3'
Sequencing Primer
(F):5'- TGCCCCTGACCACTTGG -3'
(R):5'- GCTGGCAAGGCAGCTTTG -3'
|
Posted On |
2014-08-25 |