Incidental Mutation 'R8728:Krt78'
| ID |
662605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt78
|
| Ensembl Gene |
ENSMUSG00000050463 |
| Gene Name |
keratin 78 |
| Synonyms |
2310030B04Rik |
| MMRRC Submission |
068576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R8728 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101856225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 529
(S529T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
| AlphaFold |
E9Q0F0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164932
AA Change: S529T
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: S529T
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| 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 |
|---|
| Adam2 |
A |
G |
14: 66,295,086 (GRCm39) |
L253P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,229,281 (GRCm39) |
G946D |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,119,207 (GRCm39) |
R1648G |
probably damaging |
Het |
| Ak9 |
G |
A |
10: 41,282,959 (GRCm39) |
A1242T |
|
Het |
| Anxa9 |
T |
C |
3: 95,209,979 (GRCm39) |
K127E |
probably damaging |
Het |
| Atp6v0a2 |
T |
C |
5: 124,796,152 (GRCm39) |
S739P |
probably benign |
Het |
| Bloc1s6 |
A |
T |
2: 122,588,026 (GRCm39) |
M122L |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,618,582 (GRCm39) |
M274L |
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,369,331 (GRCm39) |
I990T |
possibly damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,587,793 (GRCm39) |
T514A |
probably benign |
Het |
| Cdk14 |
G |
A |
5: 5,470,117 (GRCm39) |
|
silent |
Het |
| Celsr3 |
T |
C |
9: 108,723,940 (GRCm39) |
L2899S |
probably benign |
Het |
| Ces1b |
A |
T |
8: 93,798,576 (GRCm39) |
D203E |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,473,365 (GRCm39) |
N753S |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,365,113 (GRCm39) |
G501R |
probably damaging |
Het |
| Cym |
A |
G |
3: 107,125,991 (GRCm39) |
F91L |
possibly damaging |
Het |
| Cyp2c67 |
T |
G |
19: 39,614,605 (GRCm39) |
R307S |
probably damaging |
Het |
| Cyp3a59 |
G |
A |
5: 146,035,122 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Dagla |
G |
A |
19: 10,225,771 (GRCm39) |
R798C |
probably damaging |
Het |
| Dcaf1 |
C |
T |
9: 106,724,005 (GRCm39) |
R478C |
possibly damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,109,929 (GRCm39) |
L28P |
probably benign |
Het |
| Ddr2 |
T |
C |
1: 169,829,552 (GRCm39) |
D234G |
possibly damaging |
Het |
| Fam83a |
T |
A |
15: 57,873,062 (GRCm39) |
M297K |
possibly damaging |
Het |
| Galnt18 |
T |
A |
7: 111,119,243 (GRCm39) |
D426V |
probably damaging |
Het |
| Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,438,793 (GRCm39) |
I32V |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,601 (GRCm39) |
Y96C |
unknown |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,332 (GRCm39) |
K441R |
probably benign |
Het |
| Impdh2 |
C |
T |
9: 108,437,562 (GRCm39) |
|
probably benign |
Het |
| Iws1 |
G |
A |
18: 32,216,334 (GRCm39) |
R358Q |
probably damaging |
Het |
| Kctd18 |
G |
T |
1: 58,002,289 (GRCm39) |
D179E |
probably damaging |
Het |
| Krt13 |
T |
G |
11: 100,012,318 (GRCm39) |
S2R |
probably null |
Het |
| Krtap4-7 |
C |
G |
11: 99,534,788 (GRCm39) |
C25S |
unknown |
Het |
| Lama1 |
T |
C |
17: 68,125,663 (GRCm39) |
I2940T |
|
Het |
| Lmnb2 |
A |
G |
10: 80,740,913 (GRCm39) |
|
probably null |
Het |
| Lrrc27 |
A |
T |
7: 138,822,555 (GRCm39) |
E482V |
probably damaging |
Het |
| Lrrc72 |
G |
A |
12: 36,258,656 (GRCm39) |
T67M |
probably benign |
Het |
| Malrd1 |
T |
A |
2: 15,701,753 (GRCm39) |
C789* |
probably null |
Het |
| Mei1 |
T |
G |
15: 81,966,182 (GRCm39) |
V268G |
|
Het |
| Mical3 |
C |
A |
6: 120,950,514 (GRCm39) |
A966S |
probably damaging |
Het |
| Mmp10 |
C |
T |
9: 7,502,480 (GRCm39) |
P29L |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,935,122 (GRCm39) |
F186L |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,754,952 (GRCm38) |
T1609S |
unknown |
Het |
| Myrfl |
A |
T |
10: 116,634,545 (GRCm39) |
C616* |
probably null |
Het |
| Ncor1 |
C |
T |
11: 62,221,685 (GRCm39) |
A946T |
probably benign |
Het |
| Or10al6 |
C |
A |
17: 38,082,642 (GRCm39) |
L33M |
probably damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,027 (GRCm39) |
T262A |
probably benign |
Het |
| Pbp2 |
T |
C |
6: 135,287,104 (GRCm39) |
Y81C |
probably benign |
Het |
| Plekhh1 |
C |
A |
12: 79,115,862 (GRCm39) |
Q802K |
possibly damaging |
Het |
| Pnldc1 |
A |
T |
17: 13,116,165 (GRCm39) |
F279Y |
probably damaging |
Het |
| Psmb5 |
A |
T |
14: 54,855,261 (GRCm39) |
L63Q |
probably damaging |
Het |
| Rasa3 |
C |
T |
8: 13,636,873 (GRCm39) |
|
probably null |
Het |
| Rbm4b |
G |
A |
19: 4,812,219 (GRCm39) |
M209I |
probably benign |
Het |
| Rnf38 |
A |
G |
4: 44,131,615 (GRCm39) |
S421P |
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,562,703 (GRCm39) |
V238A |
probably damaging |
Het |
| Sesn1 |
G |
T |
10: 41,779,771 (GRCm39) |
G402W |
probably damaging |
Het |
| Six4 |
A |
G |
12: 73,159,180 (GRCm39) |
V260A |
probably benign |
Het |
| Srrm2 |
G |
A |
17: 24,038,831 (GRCm39) |
R1825Q |
unknown |
Het |
| Stat1 |
G |
A |
1: 52,178,353 (GRCm39) |
W262* |
probably null |
Het |
| Tcf20 |
A |
T |
15: 82,739,158 (GRCm39) |
D764E |
probably damaging |
Het |
| Tgm2 |
T |
C |
2: 157,962,065 (GRCm39) |
N585D |
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,133,821 (GRCm39) |
L1039H |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,974,934 (GRCm39) |
V86A |
probably benign |
Het |
| Ttc39b |
A |
G |
4: 83,171,247 (GRCm39) |
I202T |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,460 (GRCm39) |
F124S |
probably benign |
Het |
| Vwa7 |
T |
A |
17: 35,236,133 (GRCm39) |
F29Y |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,559,079 (GRCm39) |
M281L |
probably benign |
Het |
| Zfand2a |
C |
T |
5: 139,467,753 (GRCm39) |
V40M |
possibly damaging |
Het |
| Zfp865 |
G |
C |
7: 5,034,819 (GRCm39) |
A935P |
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 |
|
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 |
|
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 |
|
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'- TCTCTTCCAGGAATGGTCACC -3'
(R):5'- CATGCCTGGAAGGGAATGTG -3'
Sequencing Primer
(F):5'- AGGAATGGTCACCTGGCCTC -3'
(R):5'- TCATGCCTGGAAGAGGATCTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation