Incidental Mutation 'R6749:Krt78'
| ID |
532909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt78
|
| Ensembl Gene |
ENSMUSG00000050463 |
| Gene Name |
keratin 78 |
| Synonyms |
2310030B04Rik |
| MMRRC Submission |
044866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6749 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101859358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 280
(R280C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
| AlphaFold |
E9Q0F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164932
AA Change: R280C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: R280C
| 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 |
0.7727 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,600 (GRCm39) |
V875A |
possibly damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,845,383 (GRCm39) |
F156L |
probably damaging |
Het |
| Bdh2 |
T |
A |
3: 135,006,452 (GRCm39) |
S184T |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,683,375 (GRCm39) |
M1L |
probably benign |
Het |
| Cacfd1 |
T |
C |
2: 26,908,467 (GRCm39) |
Y134H |
probably damaging |
Het |
| Camk1 |
G |
A |
6: 113,311,486 (GRCm39) |
P340L |
probably benign |
Het |
| Cdc14a |
T |
C |
3: 116,090,807 (GRCm39) |
H424R |
possibly damaging |
Het |
| Cntfr |
T |
A |
4: 41,663,232 (GRCm39) |
T192S |
possibly damaging |
Het |
| Erbin |
G |
T |
13: 103,970,885 (GRCm39) |
S910R |
probably damaging |
Het |
| Esrp1 |
A |
T |
4: 11,357,519 (GRCm39) |
V366E |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,808,738 (GRCm39) |
S1686T |
possibly damaging |
Het |
| Gata5 |
A |
G |
2: 179,976,143 (GRCm39) |
L7S |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,818,640 (GRCm39) |
|
probably null |
Het |
| Ift140 |
A |
G |
17: 25,317,890 (GRCm39) |
E1458G |
probably damaging |
Het |
| Ift57 |
G |
A |
16: 49,581,347 (GRCm39) |
G209R |
probably benign |
Het |
| Il12rb2 |
G |
T |
6: 67,338,950 (GRCm39) |
|
probably benign |
Het |
| Lipc |
A |
G |
9: 70,730,668 (GRCm39) |
I88T |
probably damaging |
Het |
| Lrmda |
G |
T |
14: 22,077,344 (GRCm39) |
R27L |
probably benign |
Het |
| Lrrc37a |
T |
G |
11: 103,392,923 (GRCm39) |
E834A |
probably benign |
Het |
| Mmachc |
C |
A |
4: 116,561,738 (GRCm39) |
R132L |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,714,196 (GRCm39) |
Y88H |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
| Or2y1f |
A |
G |
11: 49,184,877 (GRCm39) |
H243R |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,523,164 (GRCm39) |
T289A |
possibly damaging |
Het |
| Pcdhgb4 |
G |
T |
18: 37,854,282 (GRCm39) |
A226S |
possibly damaging |
Het |
| Pde4c |
T |
C |
8: 71,198,659 (GRCm39) |
V167A |
probably damaging |
Het |
| Pigr |
A |
G |
1: 130,774,285 (GRCm39) |
T422A |
probably benign |
Het |
| Pmp2 |
T |
C |
3: 10,247,542 (GRCm39) |
Y49C |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,103,048 (GRCm39) |
I441V |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,434,166 (GRCm39) |
E354G |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 79,869,949 (GRCm39) |
D412E |
possibly damaging |
Het |
| Siglecg |
A |
G |
7: 43,058,403 (GRCm39) |
I97V |
probably benign |
Het |
| Slc4a3 |
C |
T |
1: 75,531,182 (GRCm39) |
R792* |
probably null |
Het |
| Slc6a20a |
A |
G |
9: 123,466,135 (GRCm39) |
C569R |
probably damaging |
Het |
| Spata19 |
T |
C |
9: 27,309,276 (GRCm39) |
V59A |
probably benign |
Het |
| Sult2a3 |
T |
A |
7: 13,816,629 (GRCm39) |
Y183F |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,121,702 (GRCm39) |
T194M |
probably damaging |
Het |
| Tektl1 |
A |
C |
10: 78,588,672 (GRCm39) |
M46R |
possibly damaging |
Het |
| Tmem63c |
T |
A |
12: 87,122,439 (GRCm39) |
N412K |
probably damaging |
Het |
| Trav5-1 |
T |
C |
14: 52,860,402 (GRCm39) |
I69T |
possibly damaging |
Het |
| Trim68 |
T |
C |
7: 102,327,990 (GRCm39) |
D321G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,695,600 (GRCm39) |
|
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,977,605 (GRCm39) |
V109A |
probably damaging |
Het |
| Vmn2r96 |
C |
T |
17: 18,818,352 (GRCm39) |
P643L |
probably damaging |
Het |
| Zfpm2 |
G |
T |
15: 40,818,104 (GRCm39) |
V146F |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,898,519 (GRCm39) |
K135R |
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 |
|
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'- ATGCCTGCAGAGGTCCAAAC -3'
(R):5'- CACATGGATGGACATTCAGGC -3'
Sequencing Primer
(F):5'- TCCTGCGCTATGGACACAG -3'
(R):5'- GGACATTCAGGCCCCCTTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation