Incidental Mutation 'R7126:Krt78'
| ID |
552351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt78
|
| Ensembl Gene |
ENSMUSG00000050463 |
| Gene Name |
keratin 78 |
| Synonyms |
2310030B04Rik |
| MMRRC Submission |
045213-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R7126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101856871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 412
(E412G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
| AlphaFold |
E9Q0F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164932
AA Change: E412G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: E412G
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (73/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,535,988 (GRCm39) |
C85R |
unknown |
Het |
| 3110082I17Rik |
G |
T |
5: 139,347,005 (GRCm39) |
H153Q |
unknown |
Het |
| Acadsb |
T |
C |
7: 131,039,177 (GRCm39) |
I316T |
probably benign |
Het |
| Acsbg2 |
A |
T |
17: 57,153,633 (GRCm39) |
N523K |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,979,723 (GRCm39) |
P336S |
possibly damaging |
Het |
| Ankdd1b |
A |
G |
13: 96,566,370 (GRCm39) |
V277A |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,408,541 (GRCm39) |
Y2476C |
probably benign |
Het |
| Atg13 |
G |
A |
2: 91,510,765 (GRCm39) |
R321W |
probably damaging |
Het |
| B4galt2 |
A |
G |
4: 117,734,735 (GRCm39) |
F211S |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,464,119 (GRCm39) |
T913S |
possibly damaging |
Het |
| Btbd18 |
A |
T |
2: 84,496,546 (GRCm39) |
E61D |
possibly damaging |
Het |
| Btnl9 |
G |
T |
11: 49,060,082 (GRCm39) |
S555R |
probably damaging |
Het |
| Cbs |
T |
A |
17: 31,838,113 (GRCm39) |
M379L |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,741,853 (GRCm39) |
G1614D |
unknown |
Het |
| Cmya5 |
G |
A |
13: 93,226,448 (GRCm39) |
P2880L |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,473,292 (GRCm39) |
S729P |
probably damaging |
Het |
| Cox16 |
T |
A |
12: 81,518,940 (GRCm39) |
E70D |
probably benign |
Het |
| Cp |
A |
G |
3: 20,034,788 (GRCm39) |
H699R |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,678,209 (GRCm39) |
N56D |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,725,667 (GRCm39) |
Y707C |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,349,983 (GRCm39) |
E2555D |
probably benign |
Het |
| Ess2 |
T |
C |
16: 17,729,154 (GRCm39) |
T6A |
unknown |
Het |
| Filip1 |
A |
G |
9: 79,805,577 (GRCm39) |
L59P |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,813,485 (GRCm39) |
N3268S |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,014 (GRCm39) |
C457S |
probably benign |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Gm47959 |
G |
A |
1: 82,978,503 (GRCm39) |
G57S |
unknown |
Het |
| Grep1 |
C |
T |
17: 23,939,538 (GRCm39) |
V8I |
probably benign |
Het |
| Grid2 |
T |
A |
6: 64,053,794 (GRCm39) |
V331E |
probably damaging |
Het |
| Inpp4a |
C |
A |
1: 37,413,353 (GRCm39) |
H123Q |
probably benign |
Het |
| Ireb2 |
T |
A |
9: 54,793,851 (GRCm39) |
Y260* |
probably null |
Het |
| Itpr2 |
G |
A |
6: 146,259,294 (GRCm39) |
Q628* |
probably null |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,759 (GRCm39) |
A453T |
probably damaging |
Het |
| Kcnj2 |
A |
G |
11: 110,963,648 (GRCm39) |
T347A |
probably damaging |
Het |
| Kif19b |
A |
T |
5: 140,477,073 (GRCm39) |
D874V |
probably benign |
Het |
| Klhl12 |
A |
G |
1: 134,395,521 (GRCm39) |
H161R |
probably damaging |
Het |
| Lzic |
A |
G |
4: 149,573,132 (GRCm39) |
I95V |
probably damaging |
Het |
| Mme |
C |
T |
3: 63,276,322 (GRCm39) |
P700S |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,290,472 (GRCm39) |
V53A |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,468,439 (GRCm39) |
L210P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,552,512 (GRCm39) |
T4594A |
probably benign |
Het |
| Niban1 |
T |
A |
1: 151,590,318 (GRCm39) |
C537* |
probably null |
Het |
| Olfm5 |
A |
T |
7: 103,809,187 (GRCm39) |
C208S |
probably damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,887 (GRCm39) |
I139N |
possibly damaging |
Het |
| Or2ad1 |
A |
T |
13: 21,326,888 (GRCm39) |
L113H |
probably damaging |
Het |
| Or7a39 |
T |
C |
10: 78,715,411 (GRCm39) |
V135A |
possibly damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Plin1 |
T |
C |
7: 79,376,412 (GRCm39) |
|
probably null |
Het |
| Prl7a1 |
C |
T |
13: 27,826,402 (GRCm39) |
|
probably null |
Het |
| Ptpn23 |
T |
C |
9: 110,217,812 (GRCm39) |
D711G |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,103,954 (GRCm39) |
I169N |
probably damaging |
Het |
| Scn7a |
G |
T |
2: 66,587,630 (GRCm39) |
H24Q |
possibly damaging |
Het |
| Scrt2 |
C |
T |
2: 151,935,006 (GRCm39) |
P53L |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,802,458 (GRCm39) |
I264L |
probably benign |
Het |
| Smarcd1 |
A |
T |
15: 99,607,206 (GRCm39) |
D393V |
probably damaging |
Het |
| Spag17 |
T |
G |
3: 100,008,751 (GRCm39) |
N1960K |
probably benign |
Het |
| Ssb |
A |
G |
2: 69,696,845 (GRCm39) |
T62A |
possibly damaging |
Het |
| Taar7b |
T |
A |
10: 23,875,960 (GRCm39) |
Y42N |
possibly damaging |
Het |
| Terf1 |
A |
T |
1: 15,883,363 (GRCm39) |
I159L |
probably benign |
Het |
| Tff3 |
T |
G |
17: 31,346,410 (GRCm39) |
N54T |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,905,818 (GRCm39) |
L285P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,896,392 (GRCm39) |
Y283C |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,531,405 (GRCm39) |
C38R |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,960,648 (GRCm39) |
T647S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,960,133 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
C |
T |
19: 18,831,397 (GRCm39) |
Q1421* |
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,284,982 (GRCm39) |
|
probably null |
Het |
| Vmn1r46 |
T |
G |
6: 89,953,976 (GRCm39) |
I275S |
possibly damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,088 (GRCm39) |
F282S |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,218 (GRCm39) |
S844P |
possibly damaging |
Het |
| Vps13a |
A |
C |
19: 16,688,243 (GRCm39) |
C855G |
probably benign |
Het |
| Wdr31 |
T |
A |
4: 62,381,666 (GRCm39) |
Q55L |
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 |
|
R6749:Krt78
|
UTSW |
15 |
101,859,358 (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'- AGGCTGTAAAGACTGTAATCCCC -3'
(R):5'- GAATGACAGTCTGCAGTCGG -3'
Sequencing Primer
(F):5'- GACTGTAATCCCCCACCTTAACTC -3'
(R):5'- ATCGCTGATGCTGAGCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation