Incidental Mutation 'R8013:Krt78'
| ID |
617029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt78
|
| Ensembl Gene |
ENSMUSG00000050463 |
| Gene Name |
keratin 78 |
| Synonyms |
2310030B04Rik |
| MMRRC Submission |
067453-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R8013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101856977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 377
(R377G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
| AlphaFold |
E9Q0F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164932
AA Change: R377G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: R377G
| 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: 99.4%
|
| Validation Efficiency |
|
| 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 |
|---|
| 6030458C11Rik |
C |
A |
15: 12,824,615 (GRCm39) |
D7Y |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,699 (GRCm39) |
D2661G |
unknown |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,060,798 (GRCm39) |
N3093K |
possibly damaging |
Het |
| Baz2a |
C |
T |
10: 127,961,157 (GRCm39) |
R1627C |
probably benign |
Het |
| Baz2a |
T |
G |
10: 127,961,161 (GRCm39) |
V1628G |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,648,536 (GRCm39) |
I404K |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,347,796 (GRCm39) |
Y764C |
probably damaging |
Het |
| Casr |
G |
A |
16: 36,330,006 (GRCm39) |
L443F |
probably benign |
Het |
| Cfap43 |
T |
A |
19: 47,761,548 (GRCm39) |
I849F |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,176,278 (GRCm39) |
H812Q |
probably benign |
Het |
| Cog1 |
A |
G |
11: 113,546,990 (GRCm39) |
D528G |
probably damaging |
Het |
| Depdc5 |
C |
T |
5: 33,131,186 (GRCm39) |
T1229M |
probably benign |
Het |
| Dis3 |
T |
A |
14: 99,314,835 (GRCm39) |
R954W |
possibly damaging |
Het |
| Disp2 |
T |
A |
2: 118,620,163 (GRCm39) |
Y298* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,787,040 (GRCm39) |
T332A |
probably damaging |
Het |
| Dock2 |
A |
C |
11: 34,596,677 (GRCm39) |
I393S |
probably damaging |
Het |
| Dtd1 |
A |
G |
2: 144,459,252 (GRCm39) |
D92G |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,014,030 (GRCm39) |
V121D |
probably damaging |
Het |
| Eml1 |
T |
A |
12: 108,487,938 (GRCm39) |
I550N |
probably benign |
Het |
| Entpd7 |
A |
G |
19: 43,716,494 (GRCm39) |
D496G |
probably benign |
Het |
| Ets2 |
T |
A |
16: 95,517,144 (GRCm39) |
L292Q |
probably damaging |
Het |
| Ext1 |
T |
C |
15: 52,939,283 (GRCm39) |
I589V |
possibly damaging |
Het |
| Fam20a |
T |
A |
11: 109,576,332 (GRCm39) |
E142D |
possibly damaging |
Het |
| Farp1 |
T |
A |
14: 121,479,813 (GRCm39) |
I368N |
probably damaging |
Het |
| Fars2 |
C |
T |
13: 36,389,068 (GRCm39) |
Q186* |
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,237,153 (GRCm39) |
T617A |
possibly damaging |
Het |
| Fbxo38 |
T |
C |
18: 62,663,882 (GRCm39) |
E203G |
possibly damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,836,966 (GRCm39) |
R295H |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,381,946 (GRCm39) |
M1K |
probably null |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm28363 |
A |
G |
1: 117,654,534 (GRCm39) |
R58G |
probably benign |
Het |
| Gm8356 |
A |
T |
14: 17,692,450 (GRCm39) |
N58K |
probably damaging |
Het |
| Grsf1 |
A |
G |
5: 88,823,615 (GRCm39) |
|
probably null |
Het |
| Hephl1 |
T |
A |
9: 14,965,905 (GRCm39) |
D1016V |
possibly damaging |
Het |
| Hrob |
A |
G |
11: 102,148,725 (GRCm39) |
N379D |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,423,211 (GRCm39) |
I831F |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,220,494 (GRCm39) |
H457R |
probably benign |
Het |
| Lmnb1 |
T |
A |
18: 56,841,431 (GRCm39) |
Y83N |
probably damaging |
Het |
| Loxl4 |
A |
G |
19: 42,596,115 (GRCm39) |
C113R |
probably damaging |
Het |
| Lrba |
A |
T |
3: 86,325,278 (GRCm39) |
D1912V |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,420,619 (GRCm39) |
T212S |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,489,918 (GRCm39) |
C504* |
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,001,372 (GRCm39) |
I53T |
unknown |
Het |
| Mtcl2 |
A |
G |
2: 156,872,706 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
T |
18: 74,893,970 (GRCm39) |
Q1700* |
probably null |
Het |
| Npas2 |
T |
C |
1: 39,377,146 (GRCm39) |
F503L |
probably benign |
Het |
| Nrg1 |
A |
T |
8: 32,439,951 (GRCm39) |
S149T |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,958 (GRCm39) |
F216L |
probably benign |
Het |
| Or2ag15 |
C |
T |
7: 106,340,824 (GRCm39) |
V106I |
probably benign |
Het |
| Or4a71 |
A |
G |
2: 89,358,280 (GRCm39) |
V158A |
probably benign |
Het |
| Or9r7 |
T |
A |
10: 129,962,647 (GRCm39) |
K93M |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,323,966 (GRCm39) |
L66S |
probably damaging |
Het |
| Prss35 |
T |
C |
9: 86,637,478 (GRCm39) |
S83P |
probably damaging |
Het |
| Psme4 |
G |
A |
11: 30,754,320 (GRCm39) |
M192I |
probably benign |
Het |
| Ptprs |
A |
C |
17: 56,742,994 (GRCm39) |
S383A |
probably damaging |
Het |
| Resf1 |
T |
G |
6: 149,230,368 (GRCm39) |
V1138G |
probably damaging |
Het |
| Sar1b |
C |
T |
11: 51,670,621 (GRCm39) |
P55L |
possibly damaging |
Het |
| Sgsh |
A |
G |
11: 119,243,521 (GRCm39) |
V67A |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,218,794 (GRCm39) |
Y465C |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,518,582 (GRCm39) |
I502T |
probably damaging |
Het |
| Sugp2 |
T |
A |
8: 70,704,292 (GRCm39) |
Y610N |
probably damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,401,795 (GRCm39) |
P385S |
possibly damaging |
Het |
| Tm4sf1 |
T |
C |
3: 57,200,319 (GRCm39) |
I99V |
probably benign |
Het |
| Tpr |
G |
T |
1: 150,274,359 (GRCm39) |
V163L |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,248,480 (GRCm39) |
S988G |
probably damaging |
Het |
| Zbtb26 |
T |
A |
2: 37,327,013 (GRCm39) |
|
probably null |
Het |
| Zfp536 |
T |
C |
7: 37,269,035 (GRCm39) |
N127S |
probably damaging |
Het |
| Zfp750 |
T |
A |
11: 121,403,843 (GRCm39) |
D344V |
possibly damaging |
Het |
| Zmym5 |
T |
A |
14: 57,031,883 (GRCm39) |
K408N |
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 |
|
|
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 |
|
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'- ACTAACAGGGTCAGGAAACCTCTC -3'
(R):5'- TGTCAGGCTTACGACTGCTC -3'
Sequencing Primer
(F):5'- TCTAGCAAAGAGAGGCCTGCAC -3'
(R):5'- AATGACAGTCTGCAGTCG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation