Incidental Mutation 'IGL01743:Krt78'
| ID |
152914 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt78
|
| Ensembl Gene |
ENSMUSG00000050463 |
| Gene Name |
keratin 78 |
| Synonyms |
2310030B04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL01743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101859333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 288
(R288L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
| AlphaFold |
E9Q0F0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164932
AA Change: R288L
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: R288L
| 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 |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
T |
7: 45,646,238 (GRCm39) |
N750K |
probably benign |
Het |
| Ackr2 |
T |
C |
9: 121,738,566 (GRCm39) |
C314R |
probably benign |
Het |
| Adar |
C |
T |
3: 89,652,747 (GRCm39) |
Q210* |
probably null |
Het |
| Aifm1 |
A |
G |
X: 47,569,153 (GRCm39) |
|
probably benign |
Het |
| Aldoa |
G |
T |
7: 126,395,875 (GRCm39) |
D198E |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 103,002,201 (GRCm39) |
|
probably benign |
Het |
| Arhgef18 |
G |
T |
8: 3,414,697 (GRCm39) |
C25F |
probably benign |
Het |
| Btnl1 |
T |
C |
17: 34,604,659 (GRCm39) |
I480T |
probably damaging |
Het |
| Capn9 |
T |
C |
8: 125,318,508 (GRCm39) |
S125P |
probably benign |
Het |
| Cd40lg |
T |
A |
X: 56,257,592 (GRCm39) |
Y26* |
probably null |
Het |
| Cdc42bpg |
G |
T |
19: 6,359,853 (GRCm39) |
|
probably null |
Het |
| Cdh10 |
T |
C |
15: 18,986,855 (GRCm39) |
L362P |
probably benign |
Het |
| Dhx16 |
A |
G |
17: 36,199,000 (GRCm39) |
D782G |
probably damaging |
Het |
| Dnajb14 |
G |
T |
3: 137,611,761 (GRCm39) |
V320L |
possibly damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Ercc6 |
T |
C |
14: 32,274,561 (GRCm39) |
V568A |
probably damaging |
Het |
| Faf2 |
T |
C |
13: 54,789,311 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
C |
T |
5: 110,529,506 (GRCm39) |
V223M |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,351,598 (GRCm39) |
V282A |
probably damaging |
Het |
| Fxr2 |
C |
T |
11: 69,543,448 (GRCm39) |
L650F |
possibly damaging |
Het |
| Gabrq |
A |
G |
X: 71,880,448 (GRCm39) |
M314V |
probably benign |
Het |
| Gnas |
T |
A |
2: 174,140,125 (GRCm39) |
Y157* |
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,315,747 (GRCm39) |
E175G |
probably damaging |
Het |
| Gtf3c1 |
A |
C |
7: 125,262,587 (GRCm39) |
Y1091D |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,132,069 (GRCm39) |
Q345* |
probably null |
Het |
| Hydin |
T |
C |
8: 111,319,408 (GRCm39) |
V4437A |
possibly damaging |
Het |
| Idi2 |
T |
A |
13: 9,008,578 (GRCm39) |
L112Q |
probably damaging |
Het |
| Ift80 |
C |
T |
3: 68,869,629 (GRCm39) |
V221M |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,301,507 (GRCm39) |
F205S |
probably benign |
Het |
| Irf1 |
T |
A |
11: 53,665,277 (GRCm39) |
M218K |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,270,144 (GRCm39) |
N114S |
probably benign |
Het |
| Itgae |
T |
C |
11: 73,002,585 (GRCm39) |
V114A |
probably benign |
Het |
| Klhdc10 |
A |
G |
6: 30,441,933 (GRCm39) |
|
probably null |
Het |
| Lars2 |
A |
T |
9: 123,282,313 (GRCm39) |
L632F |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,235,919 (GRCm39) |
D1220G |
probably damaging |
Het |
| Msl1 |
C |
T |
11: 98,696,245 (GRCm39) |
T597I |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,615,070 (GRCm39) |
|
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,821,179 (GRCm39) |
T435A |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,115,679 (GRCm39) |
Y4176H |
probably damaging |
Het |
| Nxpe3 |
A |
G |
16: 55,670,128 (GRCm39) |
F326L |
probably benign |
Het |
| Or13a21 |
T |
C |
7: 139,999,581 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,313,541 (GRCm39) |
S116P |
possibly damaging |
Het |
| Pak5 |
T |
A |
2: 135,929,333 (GRCm39) |
R617W |
probably damaging |
Het |
| Peak1 |
C |
A |
9: 56,166,486 (GRCm39) |
V481L |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,281,267 (GRCm39) |
|
probably benign |
Het |
| Pmm1 |
C |
T |
15: 81,844,987 (GRCm39) |
E6K |
probably benign |
Het |
| Ppp2r5c |
G |
A |
12: 110,546,868 (GRCm39) |
V454M |
probably benign |
Het |
| Ptprf |
C |
T |
4: 118,106,095 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,443,024 (GRCm39) |
|
probably null |
Het |
| Rimbp2 |
T |
A |
5: 128,874,912 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,541,892 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
A |
G |
5: 92,608,662 (GRCm39) |
V188A |
probably benign |
Het |
| Sfrp1 |
T |
A |
8: 23,902,354 (GRCm39) |
|
probably benign |
Het |
| Siglec15 |
T |
A |
18: 78,086,820 (GRCm39) |
|
probably benign |
Het |
| Smgc |
A |
G |
15: 91,738,796 (GRCm39) |
I485V |
probably benign |
Het |
| Tas2r124 |
A |
G |
6: 132,731,798 (GRCm39) |
I36V |
probably benign |
Het |
| Trmt10b |
G |
T |
4: 45,305,879 (GRCm39) |
G185W |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,727,352 (GRCm39) |
N798S |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,619,896 (GRCm39) |
T15924N |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,587,301 (GRCm39) |
Y912N |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 23,177,285 (GRCm39) |
Y690H |
probably benign |
Het |
| Vmn2r51 |
T |
C |
7: 9,834,154 (GRCm39) |
R295G |
probably damaging |
Het |
| Vpreb3 |
A |
G |
10: 75,784,231 (GRCm39) |
T14A |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation