Incidental Mutation 'R5575:Krt78'
| ID |
457959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt78
|
| Ensembl Gene |
ENSMUSG00000050463 |
| Gene Name |
keratin 78 |
| Synonyms |
2310030B04Rik |
| MMRRC Submission |
043130-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5575 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 101855787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 675
(Q675*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
| AlphaFold |
E9Q0F0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000164932
AA Change: Q675*
|
| SMART Domains |
Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: Q675*
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (57/59) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
C |
T |
14: 54,916,195 (GRCm39) |
|
probably null |
Het |
| Adrm1 |
T |
G |
2: 179,817,509 (GRCm39) |
D325E |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,013,213 (GRCm39) |
V433E |
probably damaging |
Het |
| Aplf |
A |
C |
6: 87,623,129 (GRCm39) |
C338G |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,991,149 (GRCm39) |
T681A |
probably benign |
Het |
| B9d2 |
A |
G |
7: 25,382,757 (GRCm39) |
T44A |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,405,015 (GRCm39) |
K81R |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,702,066 (GRCm39) |
H286Q |
probably damaging |
Het |
| Cfap61 |
G |
A |
2: 145,859,313 (GRCm39) |
V434I |
probably benign |
Het |
| Col5a2 |
A |
T |
1: 45,417,642 (GRCm39) |
I1311N |
probably damaging |
Het |
| Col9a3 |
A |
T |
2: 180,240,639 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,168,447 (GRCm39) |
C671S |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,508,740 (GRCm39) |
V245A |
probably damaging |
Het |
| Epha5 |
G |
A |
5: 84,564,361 (GRCm39) |
R2W |
probably damaging |
Het |
| Gabrb2 |
G |
A |
11: 42,420,365 (GRCm39) |
|
probably benign |
Het |
| Gm3453 |
A |
G |
14: 5,978,205 (GRCm38) |
V66A |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,359,707 (GRCm39) |
I28V |
probably damaging |
Het |
| Hk3 |
A |
T |
13: 55,162,583 (GRCm39) |
D88E |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,060,613 (GRCm39) |
T375A |
probably benign |
Het |
| Ibsp |
A |
T |
5: 104,457,925 (GRCm39) |
E154V |
possibly damaging |
Het |
| Il7r |
A |
G |
15: 9,508,273 (GRCm39) |
S350P |
probably benign |
Het |
| Isx |
T |
C |
8: 75,619,429 (GRCm39) |
L207P |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,985,450 (GRCm39) |
E197G |
probably damaging |
Het |
| Marchf1 |
T |
A |
8: 66,920,962 (GRCm39) |
V217E |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,578,485 (GRCm39) |
I157T |
probably damaging |
Het |
| Mmab |
A |
T |
5: 114,574,832 (GRCm39) |
L147Q |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,231,479 (GRCm39) |
V16D |
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,593,991 (GRCm39) |
H892L |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,047,804 (GRCm39) |
L18P |
possibly damaging |
Het |
| Pikfyve |
A |
C |
1: 65,312,889 (GRCm39) |
H2089P |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,301,523 (GRCm39) |
L1501Q |
possibly damaging |
Het |
| Ppp2r5c |
T |
C |
12: 110,519,266 (GRCm39) |
F246S |
probably damaging |
Het |
| Ptbp2 |
A |
T |
3: 119,514,432 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
G |
A |
3: 119,514,438 (GRCm39) |
P463L |
possibly damaging |
Het |
| Rad51 |
A |
G |
2: 118,964,914 (GRCm39) |
D274G |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,328,405 (GRCm39) |
V2807A |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
C |
T |
14: 64,268,433 (GRCm39) |
H1340Y |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,778,118 (GRCm39) |
H2133L |
possibly damaging |
Het |
| Scgb1c1 |
G |
A |
7: 140,426,024 (GRCm39) |
G40E |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,963,871 (GRCm39) |
I703T |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,961,138 (GRCm39) |
A975T |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,119,787 (GRCm39) |
D400G |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,378 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
C |
17: 84,723,827 (GRCm39) |
|
probably null |
Het |
| Themis3 |
A |
G |
17: 66,862,321 (GRCm39) |
S546P |
possibly damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,631 (GRCm39) |
D286G |
probably benign |
Het |
| Tmem67 |
A |
T |
4: 12,047,886 (GRCm39) |
V815D |
possibly damaging |
Het |
| Trpm1 |
T |
C |
7: 63,870,018 (GRCm39) |
L441P |
possibly damaging |
Het |
| Vapa |
A |
G |
17: 65,920,247 (GRCm39) |
V16A |
probably benign |
Het |
| Vmn2r38 |
A |
T |
7: 9,078,635 (GRCm39) |
Y582* |
probably null |
Het |
| Vps13b |
A |
T |
15: 35,930,065 (GRCm39) |
K3934I |
probably damaging |
Het |
| Wrn |
G |
A |
8: 33,826,158 (GRCm39) |
T168I |
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 |
|
|
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 |
|
| Posted On |
2017-02-16 |
Incidental Mutation