Incidental Mutation 'R5617:Krt78'
ID |
439605 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt78
|
Ensembl Gene |
ENSMUSG00000050463 |
Gene Name |
keratin 78 |
Synonyms |
2310030B04Rik |
MMRRC Submission |
043276-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R5617 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 101856044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 589
(T589I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
AlphaFold |
E9Q0F0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164932
AA Change: T589I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126197 Gene: ENSMUSG00000050463 AA Change: T589I
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (59/59) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,227,891 (GRCm39) |
L645F |
probably benign |
Het |
Acss3 |
T |
C |
10: 106,787,851 (GRCm39) |
Y522C |
probably damaging |
Het |
Asb18 |
A |
G |
1: 89,882,184 (GRCm39) |
V118A |
possibly damaging |
Het |
Aste1 |
T |
A |
9: 105,275,034 (GRCm39) |
C8S |
probably benign |
Het |
Atp10a |
A |
G |
7: 58,453,423 (GRCm39) |
S834G |
probably benign |
Het |
Cdh18 |
A |
G |
15: 23,226,854 (GRCm39) |
D105G |
probably damaging |
Het |
Cenpb |
T |
C |
2: 131,020,934 (GRCm39) |
E288G |
probably damaging |
Het |
Clcnka |
C |
T |
4: 141,116,628 (GRCm39) |
G541D |
probably null |
Het |
Dctn3 |
T |
C |
4: 41,716,407 (GRCm39) |
I134V |
possibly damaging |
Het |
Dennd4b |
T |
C |
3: 90,182,933 (GRCm39) |
S917P |
probably benign |
Het |
Fam135b |
A |
T |
15: 71,493,865 (GRCm39) |
D21E |
probably damaging |
Het |
Fam174a |
T |
C |
1: 95,241,972 (GRCm39) |
V144A |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,639,042 (GRCm39) |
Y1087H |
probably damaging |
Het |
Gm7275 |
A |
T |
16: 47,894,527 (GRCm39) |
|
noncoding transcript |
Het |
Gm9271 |
G |
T |
7: 39,013,076 (GRCm39) |
|
noncoding transcript |
Het |
Grm2 |
T |
C |
9: 106,528,275 (GRCm39) |
|
probably null |
Het |
Htt |
T |
A |
5: 35,028,150 (GRCm39) |
V1802D |
possibly damaging |
Het |
Ighv1-75 |
C |
A |
12: 115,797,874 (GRCm39) |
G16V |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,631,993 (GRCm39) |
|
probably benign |
Het |
Lbr |
A |
T |
1: 181,656,467 (GRCm39) |
V227D |
probably benign |
Het |
Lsamp |
T |
C |
16: 41,954,786 (GRCm39) |
V211A |
probably damaging |
Het |
Map3k19 |
G |
A |
1: 127,750,703 (GRCm39) |
R883C |
probably damaging |
Het |
Marchf8 |
A |
C |
6: 116,380,481 (GRCm39) |
I111L |
possibly damaging |
Het |
Mrps10 |
T |
A |
17: 47,689,167 (GRCm39) |
M187K |
probably benign |
Het |
Ncdn |
G |
A |
4: 126,638,840 (GRCm39) |
R660C |
probably damaging |
Het |
Notum |
A |
T |
11: 120,547,171 (GRCm39) |
Y332* |
probably null |
Het |
Nr1h5 |
A |
T |
3: 102,855,145 (GRCm39) |
L319I |
probably damaging |
Het |
Or51q1 |
A |
T |
7: 103,628,921 (GRCm39) |
H180L |
possibly damaging |
Het |
Or8k35 |
T |
A |
2: 86,424,345 (GRCm39) |
I276L |
probably benign |
Het |
Osbpl5 |
T |
C |
7: 143,246,684 (GRCm39) |
D765G |
possibly damaging |
Het |
Parp3 |
C |
T |
9: 106,351,704 (GRCm39) |
V170M |
possibly damaging |
Het |
Pcdh15 |
A |
G |
10: 74,471,504 (GRCm39) |
|
probably benign |
Het |
Pcdha9 |
T |
G |
18: 37,131,869 (GRCm39) |
S313A |
probably benign |
Het |
Pfkm |
A |
G |
15: 98,020,107 (GRCm39) |
R201G |
possibly damaging |
Het |
Pgm5 |
G |
A |
19: 24,727,765 (GRCm39) |
R375* |
probably null |
Het |
Phactr2 |
A |
G |
10: 13,349,809 (GRCm39) |
S72P |
possibly damaging |
Het |
Plaat1 |
A |
T |
16: 29,039,162 (GRCm39) |
R81* |
probably null |
Het |
Plec |
A |
G |
15: 76,058,732 (GRCm39) |
L3600P |
probably damaging |
Het |
Pou6f1 |
G |
A |
15: 100,483,874 (GRCm39) |
T208M |
possibly damaging |
Het |
Rabep1 |
C |
T |
11: 70,808,355 (GRCm39) |
S394L |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,301,489 (GRCm39) |
F687C |
probably damaging |
Het |
Ranbp6 |
A |
G |
19: 29,789,863 (GRCm39) |
F163S |
probably damaging |
Het |
Rcor3 |
T |
C |
1: 191,804,430 (GRCm39) |
N240D |
probably benign |
Het |
Samd13 |
C |
A |
3: 146,352,065 (GRCm39) |
K95N |
probably benign |
Het |
Slc25a17 |
G |
T |
15: 81,244,975 (GRCm39) |
|
probably benign |
Het |
Slfn8 |
G |
T |
11: 82,895,547 (GRCm39) |
H420N |
probably benign |
Het |
Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
Stim2 |
G |
A |
5: 54,267,075 (GRCm39) |
E21K |
probably damaging |
Het |
Tmem163 |
A |
G |
1: 127,479,067 (GRCm39) |
Y151H |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,902,834 (GRCm39) |
I209T |
probably benign |
Het |
Tubal3 |
T |
A |
13: 3,983,432 (GRCm39) |
L404H |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,791,640 (GRCm39) |
F150S |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,030,901 (GRCm39) |
S425G |
possibly damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,904,861 (GRCm39) |
H326L |
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 |
|
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 |
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'- CATATTCTCTTCCAGGCACGG -3'
(R):5'- TCCTGGAAGAGGATCTGGAG -3'
Sequencing Primer
(F):5'- AGATCCTCTCCCAGGCATG -3'
(R):5'- TCTGGAGGCCAAGTGACTG -3'
|
Posted On |
2016-11-08 |