Incidental Mutation 'R5906:Krt78'
| ID |
460661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt78
|
| Ensembl Gene |
ENSMUSG00000050463 |
| Gene Name |
keratin 78 |
| Synonyms |
2310030B04Rik |
| MMRRC Submission |
044103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R5906 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101857030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 359
(E359V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
| AlphaFold |
E9Q0F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164932
AA Change: E359V
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: E359V
| 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: 99.4%
- 10x: 97.4%
- 20x: 92.4%
|
| Validation Efficiency |
95% (81/85) |
| 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 |
|---|
| 4930438A08Rik |
C |
A |
11: 58,182,260 (GRCm39) |
|
probably null |
Het |
| 9130023H24Rik |
G |
A |
7: 127,835,664 (GRCm39) |
P310S |
probably benign |
Het |
| Abcc10 |
G |
T |
17: 46,627,485 (GRCm39) |
H652Q |
probably benign |
Het |
| Actl6b |
A |
G |
5: 137,565,591 (GRCm39) |
I396V |
possibly damaging |
Het |
| Acvr1b |
T |
C |
15: 101,091,772 (GRCm39) |
|
probably benign |
Het |
| Adamts18 |
A |
T |
8: 114,436,251 (GRCm39) |
H989Q |
probably benign |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,094 (GRCm39) |
Y631C |
probably damaging |
Het |
| Angptl3 |
A |
G |
4: 98,925,804 (GRCm39) |
T377A |
probably benign |
Het |
| Ankmy2 |
G |
A |
12: 36,226,632 (GRCm39) |
V109M |
probably damaging |
Het |
| Anpep |
G |
A |
7: 79,483,423 (GRCm39) |
A689V |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,859,938 (GRCm39) |
M350K |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,818,917 (GRCm39) |
V1213I |
probably damaging |
Het |
| Capn1 |
A |
G |
19: 6,061,451 (GRCm39) |
F156L |
possibly damaging |
Het |
| Catsperb |
C |
A |
12: 101,476,721 (GRCm39) |
F408L |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,506,350 (GRCm39) |
L697Q |
possibly damaging |
Het |
| Cdc37l1 |
T |
A |
19: 28,989,386 (GRCm39) |
V281E |
probably benign |
Het |
| Chia1 |
A |
T |
3: 106,039,304 (GRCm39) |
T465S |
probably benign |
Het |
| Cidec |
A |
T |
6: 113,405,282 (GRCm39) |
|
probably null |
Het |
| Clcnkb |
T |
C |
4: 141,139,610 (GRCm39) |
T131A |
probably benign |
Het |
| Clec5a |
T |
A |
6: 40,558,793 (GRCm39) |
M98L |
probably benign |
Het |
| Cnga1 |
A |
T |
5: 72,768,201 (GRCm39) |
F162I |
probably benign |
Het |
| Cyp27b1 |
A |
T |
10: 126,884,267 (GRCm39) |
I40F |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,265,144 (GRCm39) |
S1027G |
probably benign |
Het |
| Entpd1 |
C |
A |
19: 40,727,283 (GRCm39) |
A448E |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,205,286 (GRCm39) |
|
probably null |
Het |
| Etfdh |
T |
C |
3: 79,511,422 (GRCm39) |
I520V |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
G |
A |
5: 71,781,253 (GRCm39) |
P386L |
probably benign |
Het |
| Gckr |
G |
T |
5: 31,463,922 (GRCm39) |
V281L |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,167 (GRCm39) |
T310A |
probably benign |
Het |
| Gjc2 |
C |
A |
11: 59,067,667 (GRCm39) |
V272L |
probably benign |
Het |
| Gm13441 |
G |
C |
2: 31,777,511 (GRCm39) |
|
silent |
Het |
| H2-DMb2 |
T |
A |
17: 34,367,582 (GRCm39) |
M1K |
probably null |
Het |
| Hipk3 |
T |
C |
2: 104,302,153 (GRCm39) |
Y13C |
probably damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,784,536 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,788,413 (GRCm39) |
F336S |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,271,359 (GRCm39) |
D747G |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,872,252 (GRCm39) |
D2195G |
probably benign |
Het |
| Matk |
C |
T |
10: 81,096,753 (GRCm39) |
L188F |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,889,496 (GRCm39) |
I399T |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nap1l1 |
A |
T |
10: 111,326,891 (GRCm39) |
K151* |
probably null |
Het |
| Ncbp3 |
T |
A |
11: 72,964,327 (GRCm39) |
S426T |
probably benign |
Het |
| Nisch |
T |
A |
14: 30,893,985 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
T |
C |
14: 50,272,306 (GRCm39) |
T185A |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,369 (GRCm39) |
C126R |
probably damaging |
Het |
| Or8a1b |
A |
G |
9: 37,623,101 (GRCm39) |
I158T |
probably benign |
Het |
| Or8b8 |
A |
G |
9: 37,809,174 (GRCm39) |
H158R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,720,854 (GRCm39) |
D17G |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,791,894 (GRCm39) |
V1194M |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,756,387 (GRCm39) |
I1615N |
probably damaging |
Het |
| Pkd2 |
A |
T |
5: 104,625,045 (GRCm39) |
|
probably null |
Het |
| Pkp4 |
T |
A |
2: 59,135,420 (GRCm39) |
N97K |
possibly damaging |
Het |
| Prrx2 |
C |
T |
2: 30,769,522 (GRCm39) |
R78C |
probably damaging |
Het |
| Pycr1 |
T |
A |
11: 120,532,988 (GRCm39) |
I91F |
probably damaging |
Het |
| Rap1a |
T |
C |
3: 105,645,081 (GRCm39) |
N87S |
possibly damaging |
Het |
| Sbk2 |
T |
G |
7: 4,960,627 (GRCm39) |
Y181S |
probably damaging |
Het |
| Scart1 |
T |
A |
7: 139,808,712 (GRCm39) |
D874E |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,328,843 (GRCm39) |
H1057Q |
possibly damaging |
Het |
| Sfswap |
G |
A |
5: 129,619,107 (GRCm39) |
E486K |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,433,119 (GRCm39) |
V1213A |
probably damaging |
Het |
| Slfn5 |
T |
A |
11: 82,848,102 (GRCm39) |
I329K |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,594,813 (GRCm39) |
N1186Y |
probably damaging |
Het |
| Ssbp3 |
A |
G |
4: 106,867,018 (GRCm39) |
|
probably benign |
Het |
| Steap3 |
T |
A |
1: 120,171,731 (GRCm39) |
I125F |
probably damaging |
Het |
| Synpr |
C |
A |
14: 13,608,788 (GRCm38) |
|
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,776,886 (GRCm39) |
L69P |
probably damaging |
Het |
| Traf3ip3 |
T |
A |
1: 192,880,314 (GRCm39) |
D5V |
possibly damaging |
Het |
| Vmn1r29 |
G |
A |
6: 58,284,736 (GRCm39) |
S152N |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,550 (GRCm39) |
I183V |
probably benign |
Het |
| Wdr17 |
C |
G |
8: 55,092,503 (GRCm39) |
V1094L |
probably benign |
Het |
| Wdr95 |
A |
G |
5: 149,487,692 (GRCm39) |
I109V |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,793,717 (GRCm39) |
D7G |
probably benign |
Het |
| Zfp512 |
A |
T |
5: 31,637,408 (GRCm39) |
Q443L |
probably damaging |
Het |
| Zfp974 |
T |
A |
7: 27,610,230 (GRCm39) |
K498N |
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 |
|
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 |
PCR Primer
(F):5'- TAGCAAAGAGAGGCCTGCAC -3'
(R):5'- AATCAGGGTCTGTCTGGGTC -3'
Sequencing Primer
(F):5'- TAAGCCCAGGTGCTCCCTAG -3'
(R):5'- TTGATCATCCCTGTCAGG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation