Incidental Mutation 'R6503:Krt8'
| ID |
519855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt8
|
| Ensembl Gene |
ENSMUSG00000049382 |
| Gene Name |
keratin 8 |
| Synonyms |
cytokeratin-8, Card2, Krt2-8, K8, cytokeratin8, cytokeratin 8, EndoA, Krt-2.8 |
| MMRRC Submission |
044635-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6503 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101905146-101912777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101906369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 380
(Y380F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023952]
|
| AlphaFold |
P11679 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023952
AA Change: Y380F
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023952
Gene: ENSMUSG00000049382
AA Change: Y380F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
1 |
93 |
9.4e-18 |
PFAM |
|
Filament
|
96 |
407 |
7.82e-188 |
SMART |
|
low complexity region
|
421 |
438 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| 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 family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
T |
7: 78,747,580 (GRCm39) |
A784S |
probably benign |
Het |
| Anxa4 |
A |
G |
6: 86,721,649 (GRCm39) |
S204P |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,883,054 (GRCm39) |
N625D |
possibly damaging |
Het |
| Cage1 |
G |
A |
13: 38,209,425 (GRCm39) |
T78I |
possibly damaging |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,285 (GRCm39) |
C259S |
probably benign |
Het |
| Enah |
C |
T |
1: 181,746,076 (GRCm39) |
G402R |
probably damaging |
Het |
| Epha6 |
T |
A |
16: 60,025,984 (GRCm39) |
H486L |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,036,406 (GRCm39) |
M3353V |
probably benign |
Het |
| Gulp1 |
A |
T |
1: 44,812,540 (GRCm39) |
Q170L |
probably damaging |
Het |
| Jag1 |
C |
T |
2: 136,943,549 (GRCm39) |
G216S |
probably damaging |
Het |
| Mettl18 |
T |
C |
1: 163,824,687 (GRCm39) |
V336A |
possibly damaging |
Het |
| Ntmt2 |
T |
A |
1: 163,531,715 (GRCm39) |
D146V |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,926,042 (GRCm39) |
D342G |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,447,922 (GRCm39) |
S205P |
possibly damaging |
Het |
| Parp10 |
G |
A |
15: 76,126,684 (GRCm39) |
R195C |
probably damaging |
Het |
| Pcdha1 |
G |
A |
18: 37,064,724 (GRCm39) |
V463M |
probably damaging |
Het |
| Prb1c |
C |
A |
6: 132,338,655 (GRCm39) |
G188* |
probably null |
Het |
| Rb1 |
T |
C |
14: 73,443,320 (GRCm39) |
I778V |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,448,810 (GRCm39) |
S3619T |
probably benign |
Het |
| St18 |
A |
T |
1: 6,865,621 (GRCm39) |
D33V |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,302,682 (GRCm39) |
S1014P |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,163,658 (GRCm39) |
D40G |
probably benign |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmem131l |
A |
G |
3: 83,848,251 (GRCm39) |
S300P |
probably benign |
Het |
|
| Other mutations in Krt8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Krt8
|
APN |
15 |
101,906,460 (GRCm39) |
missense |
probably benign |
|
|
IGL01643:Krt8
|
APN |
15 |
101,905,508 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01966:Krt8
|
APN |
15 |
101,906,105 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02587:Krt8
|
APN |
15 |
101,907,367 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03088:Krt8
|
APN |
15 |
101,909,022 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0531:Krt8
|
UTSW |
15 |
101,909,883 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1451:Krt8
|
UTSW |
15 |
101,907,264 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2258:Krt8
|
UTSW |
15 |
101,907,257 (GRCm39) |
missense |
probably benign |
|
|
R2348:Krt8
|
UTSW |
15 |
101,907,300 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2566:Krt8
|
UTSW |
15 |
101,906,459 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3796:Krt8
|
UTSW |
15 |
101,907,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4834:Krt8
|
UTSW |
15 |
101,907,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Krt8
|
UTSW |
15 |
101,905,386 (GRCm39) |
missense |
probably benign |
|
|
R5212:Krt8
|
UTSW |
15 |
101,906,402 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5249:Krt8
|
UTSW |
15 |
101,906,875 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5419:Krt8
|
UTSW |
15 |
101,912,337 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5778:Krt8
|
UTSW |
15 |
101,912,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5997:Krt8
|
UTSW |
15 |
101,909,029 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6683:Krt8
|
UTSW |
15 |
101,906,439 (GRCm39) |
missense |
probably benign |
|
|
R6812:Krt8
|
UTSW |
15 |
101,906,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6824:Krt8
|
UTSW |
15 |
101,906,875 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6875:Krt8
|
UTSW |
15 |
101,906,343 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7650:Krt8
|
UTSW |
15 |
101,912,598 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8047:Krt8
|
UTSW |
15 |
101,912,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8559:Krt8
|
UTSW |
15 |
101,909,979 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8826:Krt8
|
UTSW |
15 |
101,909,870 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9146:Krt8
|
UTSW |
15 |
101,907,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9565:Krt8
|
UTSW |
15 |
101,912,460 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1177:Krt8
|
UTSW |
15 |
101,907,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCATGTTCTGCATCCCAG -3'
(R):5'- CCTGGGTGCTCATATGTCTC -3'
Sequencing Primer
(F):5'- AGCCTGTAACCAGATGCGTG -3'
(R):5'- ATATGTCTCCTTCCCCACAGAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation