Incidental Mutation 'R7638:Krt78'
| ID |
590099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt78
|
| Ensembl Gene |
ENSMUSG00000050463 |
| Gene Name |
keratin 78 |
| Synonyms |
2310030B04Rik |
| MMRRC Submission |
045696-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R7638 (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 101859318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 293
(E293G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
| AlphaFold |
E9Q0F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164932
AA Change: E293G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: E293G
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
T |
G |
2: 26,733,855 (GRCm39) |
T115P |
probably damaging |
Het |
| Aggf1 |
G |
A |
13: 95,492,921 (GRCm39) |
R563* |
probably null |
Het |
| Amdhd1 |
A |
T |
10: 93,370,360 (GRCm39) |
Y159* |
probably null |
Het |
| Camp |
T |
C |
9: 109,677,461 (GRCm39) |
E124G |
|
Het |
| Casq2 |
A |
G |
3: 101,994,016 (GRCm39) |
E21G |
possibly damaging |
Het |
| Cbln1 |
A |
T |
8: 88,198,357 (GRCm39) |
F116Y |
probably damaging |
Het |
| Cklf |
A |
T |
8: 104,989,996 (GRCm39) |
K143* |
probably null |
Het |
| Clca3a1 |
A |
G |
3: 144,457,723 (GRCm39) |
I387T |
probably damaging |
Het |
| Cndp1 |
T |
A |
18: 84,654,174 (GRCm39) |
D130V |
probably benign |
Het |
| Cyp4a12a |
T |
A |
4: 115,184,670 (GRCm39) |
M317K |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,365,078 (GRCm39) |
I138K |
unknown |
Het |
| Eapp |
A |
G |
12: 54,720,508 (GRCm39) |
S236P |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,927,625 (GRCm39) |
M4798K |
probably benign |
Het |
| Efnb3 |
T |
C |
11: 69,448,046 (GRCm39) |
H132R |
possibly damaging |
Het |
| Fam243 |
A |
G |
16: 92,117,805 (GRCm39) |
V161A |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,238,208 (GRCm39) |
N596K |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,279,484 (GRCm39) |
W134R |
probably damaging |
Het |
| Gga2 |
A |
G |
7: 121,603,157 (GRCm39) |
S180P |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,353,694 (GRCm39) |
T911A |
probably benign |
Het |
| Gstm1 |
C |
T |
3: 107,921,866 (GRCm39) |
|
probably null |
Het |
| Heg1 |
A |
G |
16: 33,547,867 (GRCm39) |
T909A |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,186 (GRCm39) |
S2455P |
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,870,273 (GRCm39) |
R4349W |
probably damaging |
Het |
| Hivep2 |
T |
G |
10: 14,019,595 (GRCm39) |
M2122R |
possibly damaging |
Het |
| Itga10 |
T |
A |
3: 96,564,707 (GRCm39) |
|
probably null |
Het |
| Kbtbd13 |
G |
T |
9: 65,298,605 (GRCm39) |
C110* |
probably null |
Het |
| Lgals3bp |
C |
T |
11: 118,288,995 (GRCm39) |
V110M |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,307,352 (GRCm39) |
|
probably null |
Het |
| Lrrc14 |
A |
G |
15: 76,598,173 (GRCm39) |
D301G |
probably benign |
Het |
| Lrrc71 |
C |
A |
3: 87,649,113 (GRCm39) |
G352W |
probably damaging |
Het |
| Map3k9 |
A |
G |
12: 81,771,506 (GRCm39) |
V694A |
probably benign |
Het |
| Mboat2 |
T |
C |
12: 24,989,325 (GRCm39) |
S162P |
probably damaging |
Het |
| Megf11 |
C |
A |
9: 64,586,535 (GRCm39) |
N422K |
probably damaging |
Het |
| Miga1 |
C |
T |
3: 151,982,324 (GRCm39) |
S584N |
probably benign |
Het |
| Mindy2 |
A |
G |
9: 70,524,141 (GRCm39) |
Y403H |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,167,583 (GRCm39) |
A204V |
possibly damaging |
Het |
| Mta3 |
A |
T |
17: 84,107,572 (GRCm39) |
Y262F |
probably benign |
Het |
| Ncoa7 |
G |
A |
10: 30,598,794 (GRCm39) |
S43F |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,115,734 (GRCm39) |
T1022A |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,638,991 (GRCm39) |
V874A |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,460,141 (GRCm39) |
T2226A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,190,792 (GRCm39) |
H302R |
probably benign |
Het |
| Odc1 |
A |
G |
12: 17,600,003 (GRCm39) |
Y389C |
probably damaging |
Het |
| Or52p2 |
A |
G |
7: 102,237,125 (GRCm39) |
I275T |
probably damaging |
Het |
| Or5k8 |
G |
A |
16: 58,644,958 (GRCm39) |
T38I |
probably damaging |
Het |
| Or8g37 |
T |
G |
9: 39,731,189 (GRCm39) |
F85V |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,057,880 (GRCm39) |
D599G |
probably damaging |
Het |
| Pcdhb10 |
A |
C |
18: 37,545,365 (GRCm39) |
Q147P |
probably benign |
Het |
| Pdcl2 |
A |
C |
5: 76,465,675 (GRCm39) |
C182G |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,392,762 (GRCm39) |
D136G |
possibly damaging |
Het |
| Polr1h |
A |
C |
17: 37,268,722 (GRCm39) |
|
probably null |
Het |
| Pramel5 |
T |
C |
4: 143,998,010 (GRCm39) |
E411G |
possibly damaging |
Het |
| Prkce |
T |
C |
17: 86,476,028 (GRCm39) |
V3A |
probably benign |
Het |
| Pth1r |
T |
C |
9: 110,551,461 (GRCm39) |
N546S |
probably benign |
Het |
| Qrich2 |
C |
T |
11: 116,346,148 (GRCm39) |
V1559I |
probably benign |
Het |
| Rbm20 |
A |
C |
19: 53,802,764 (GRCm39) |
D424A |
possibly damaging |
Het |
| Rbm26 |
C |
T |
14: 105,388,284 (GRCm39) |
D393N |
probably damaging |
Het |
| Sf3b3 |
G |
A |
8: 111,547,445 (GRCm39) |
R728C |
probably damaging |
Het |
| Spata31e1 |
G |
T |
13: 49,940,451 (GRCm39) |
Q420K |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,137,920 (GRCm39) |
N1090S |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,576,875 (GRCm39) |
S160T |
probably benign |
Het |
| Tcstv6 |
A |
T |
13: 120,304,224 (GRCm39) |
|
probably null |
Het |
| Tfap2e |
C |
T |
4: 126,615,727 (GRCm39) |
V236M |
probably damaging |
Het |
| Thsd4 |
G |
A |
9: 60,301,755 (GRCm39) |
T180M |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,758,443 (GRCm39) |
M412K |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,079,883 (GRCm39) |
H136L |
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,044 (GRCm39) |
I110N |
probably benign |
Het |
| Trav13d-3 |
A |
G |
14: 53,270,870 (GRCm39) |
M111V |
probably benign |
Het |
| Tubb3 |
A |
T |
8: 124,147,900 (GRCm39) |
S278C |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,220,299 (GRCm39) |
F364Y |
probably benign |
Het |
| Usp17lc |
T |
C |
7: 103,067,706 (GRCm39) |
S334P |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,852,791 (GRCm39) |
D2357G |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,454,172 (GRCm39) |
Y125H |
probably benign |
Het |
| Zfp747 |
A |
T |
7: 126,973,819 (GRCm39) |
M117K |
probably benign |
Het |
| Zscan4c |
A |
T |
7: 10,743,658 (GRCm39) |
N419I |
possibly 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 |
|
|
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'- CTGCTTGAGCTCAGGACATG -3'
(R):5'- TGGACACTGAACTTGGCCTC -3'
Sequencing Primer
(F):5'- CTGCTTGAGCTCAGGACATGATAGG -3'
(R):5'- CTCTTCCATAGGAACTGGGAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation