Incidental Mutation 'R4043:Krt10'
ID |
313946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt10
|
Ensembl Gene |
ENSMUSG00000019761 |
Gene Name |
keratin 10 |
Synonyms |
K10, cytokeratin 10, keratin 10, K1C1, Krt-1.10, suprabasal cytokeratin 10, D130054E02Rik, Krt1-10 |
MMRRC Submission |
041615-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.322)
|
Stock # |
R4043 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
99276080-99280190 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 99277819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103131]
[ENSMUST00000211768]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000103131
|
SMART Domains |
Protein: ENSMUSP00000099420 Gene: ENSMUSG00000019761
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
133 |
N/A |
INTRINSIC |
Filament
|
134 |
448 |
6e-166 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153599
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211768
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.9%
|
Validation Efficiency |
97% (64/66) |
MGI Phenotype |
PHENOTYPE: Mutations may result in hyperkeratosis and blistering of the skin. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
T |
C |
5: 30,409,360 (GRCm39) |
N44D |
probably benign |
Het |
AU018091 |
A |
G |
7: 3,208,962 (GRCm39) |
F375L |
probably damaging |
Het |
Bsph1 |
G |
T |
7: 13,192,201 (GRCm39) |
|
probably null |
Het |
Casp1 |
A |
G |
9: 5,302,444 (GRCm39) |
D122G |
probably benign |
Het |
Ccdc146 |
C |
T |
5: 21,521,941 (GRCm39) |
C361Y |
probably benign |
Het |
Cdc37l1 |
T |
C |
19: 28,968,028 (GRCm39) |
S31P |
possibly damaging |
Het |
Cdca2 |
A |
T |
14: 67,941,455 (GRCm39) |
M249K |
probably benign |
Het |
Cfap73 |
C |
T |
5: 120,768,030 (GRCm39) |
|
probably null |
Het |
Cgnl1 |
A |
G |
9: 71,612,575 (GRCm39) |
L749S |
probably damaging |
Het |
Cmtr2 |
C |
A |
8: 110,948,462 (GRCm39) |
C257* |
probably null |
Het |
Col6a4 |
A |
T |
9: 105,949,610 (GRCm39) |
L675* |
probably null |
Het |
Cpne8 |
A |
T |
15: 90,456,204 (GRCm39) |
D186E |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,619,362 (GRCm39) |
|
probably null |
Het |
Daglb |
T |
A |
5: 143,472,906 (GRCm39) |
Y354N |
possibly damaging |
Het |
Dlgap1 |
T |
C |
17: 71,068,075 (GRCm39) |
S549P |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 117,843,678 (GRCm39) |
D4389G |
probably damaging |
Het |
Dst |
T |
A |
1: 34,229,765 (GRCm39) |
C2631S |
probably benign |
Het |
Gimap1 |
T |
A |
6: 48,720,176 (GRCm39) |
W263R |
probably damaging |
Het |
Gne |
A |
C |
4: 44,040,383 (GRCm39) |
C594G |
possibly damaging |
Het |
Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
Helz2 |
T |
C |
2: 180,871,503 (GRCm39) |
D2703G |
probably benign |
Het |
Jmjd1c |
G |
A |
10: 67,055,245 (GRCm39) |
V222I |
possibly damaging |
Het |
Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
Lrrc37a |
T |
G |
11: 103,389,479 (GRCm39) |
H1982P |
possibly damaging |
Het |
Med13l |
T |
A |
5: 118,731,528 (GRCm39) |
L68Q |
probably damaging |
Het |
Megf10 |
C |
A |
18: 57,392,870 (GRCm39) |
D422E |
probably damaging |
Het |
Mpz |
C |
T |
1: 170,987,340 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
A |
T |
7: 141,361,215 (GRCm39) |
T1508S |
possibly damaging |
Het |
Myo3a |
C |
T |
2: 22,338,350 (GRCm39) |
|
probably benign |
Het |
Ndnf |
A |
T |
6: 65,680,920 (GRCm39) |
N400Y |
possibly damaging |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Or6p1 |
T |
C |
1: 174,258,657 (GRCm39) |
I221T |
probably damaging |
Het |
Or7g35 |
G |
T |
9: 19,496,291 (GRCm39) |
V153F |
probably benign |
Het |
Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
Pappa |
A |
G |
4: 65,232,824 (GRCm39) |
N1321S |
probably benign |
Het |
Patl1 |
T |
A |
19: 11,920,314 (GRCm39) |
L756Q |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,339,717 (GRCm39) |
M1043V |
probably benign |
Het |
Plekhg2 |
G |
A |
7: 28,064,144 (GRCm39) |
|
probably benign |
Het |
Ppp2r2d |
G |
A |
7: 138,484,145 (GRCm39) |
W265* |
probably null |
Het |
Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
Radil |
T |
A |
5: 142,479,988 (GRCm39) |
I471F |
probably benign |
Het |
Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
Rpl10l |
A |
T |
12: 66,330,977 (GRCm39) |
M52K |
probably damaging |
Het |
Scn1a |
A |
T |
2: 66,156,380 (GRCm39) |
S510T |
possibly damaging |
Het |
Sdad1 |
T |
G |
5: 92,450,553 (GRCm39) |
N194T |
probably damaging |
Het |
Sel1l3 |
A |
T |
5: 53,345,396 (GRCm39) |
Y259* |
probably null |
Het |
Slc22a26 |
T |
C |
19: 7,765,694 (GRCm39) |
|
probably null |
Het |
Snap91 |
C |
T |
9: 86,659,102 (GRCm39) |
G477D |
probably damaging |
Het |
Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
Srr |
T |
C |
11: 74,799,947 (GRCm39) |
T202A |
probably benign |
Het |
Srrm1 |
C |
T |
4: 135,068,242 (GRCm39) |
|
probably benign |
Het |
Trp53bp2 |
T |
A |
1: 182,276,626 (GRCm39) |
L869Q |
possibly damaging |
Het |
Ttbk1 |
T |
A |
17: 46,757,688 (GRCm39) |
D982V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,624,501 (GRCm39) |
T15324A |
probably benign |
Het |
Ush1c |
T |
C |
7: 45,870,952 (GRCm39) |
E276G |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
Vps8 |
A |
C |
16: 21,345,146 (GRCm39) |
D823A |
probably damaging |
Het |
Zfp616 |
T |
A |
11: 73,976,108 (GRCm39) |
N792K |
possibly damaging |
Het |
Zfpm2 |
A |
T |
15: 40,734,023 (GRCm39) |
D2V |
possibly damaging |
Het |
Zfyve16 |
A |
C |
13: 92,650,271 (GRCm39) |
|
probably null |
Het |
Zmym2 |
T |
A |
14: 57,195,765 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Krt10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03179:Krt10
|
APN |
11 |
99,280,044 (GRCm39) |
unclassified |
probably benign |
|
Rough-fur
|
UTSW |
11 |
99,279,644 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4304:Krt10
|
UTSW |
11 |
99,280,100 (GRCm39) |
unclassified |
probably benign |
|
FR4304:Krt10
|
UTSW |
11 |
99,277,025 (GRCm39) |
unclassified |
probably benign |
|
FR4340:Krt10
|
UTSW |
11 |
99,280,100 (GRCm39) |
unclassified |
probably benign |
|
FR4340:Krt10
|
UTSW |
11 |
99,277,028 (GRCm39) |
unclassified |
probably benign |
|
FR4340:Krt10
|
UTSW |
11 |
99,277,029 (GRCm39) |
unclassified |
probably benign |
|
FR4342:Krt10
|
UTSW |
11 |
99,277,029 (GRCm39) |
unclassified |
probably benign |
|
FR4342:Krt10
|
UTSW |
11 |
99,277,025 (GRCm39) |
unclassified |
probably benign |
|
FR4449:Krt10
|
UTSW |
11 |
99,280,093 (GRCm39) |
unclassified |
probably benign |
|
FR4548:Krt10
|
UTSW |
11 |
99,280,102 (GRCm39) |
unclassified |
probably benign |
|
FR4548:Krt10
|
UTSW |
11 |
99,280,099 (GRCm39) |
unclassified |
probably benign |
|
FR4589:Krt10
|
UTSW |
11 |
99,280,102 (GRCm39) |
unclassified |
probably benign |
|
FR4737:Krt10
|
UTSW |
11 |
99,280,105 (GRCm39) |
unclassified |
probably benign |
|
FR4737:Krt10
|
UTSW |
11 |
99,277,023 (GRCm39) |
unclassified |
probably benign |
|
FR4737:Krt10
|
UTSW |
11 |
99,280,099 (GRCm39) |
unclassified |
probably benign |
|
R1386:Krt10
|
UTSW |
11 |
99,276,746 (GRCm39) |
splice site |
probably benign |
|
R1553:Krt10
|
UTSW |
11 |
99,276,806 (GRCm39) |
nonsense |
probably null |
|
R1737:Krt10
|
UTSW |
11 |
99,278,213 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2082:Krt10
|
UTSW |
11 |
99,279,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R2420:Krt10
|
UTSW |
11 |
99,277,933 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3409:Krt10
|
UTSW |
11 |
99,278,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R4027:Krt10
|
UTSW |
11 |
99,277,019 (GRCm39) |
unclassified |
probably benign |
|
R4042:Krt10
|
UTSW |
11 |
99,277,819 (GRCm39) |
splice site |
probably null |
|
R4915:Krt10
|
UTSW |
11 |
99,278,334 (GRCm39) |
missense |
probably damaging |
0.99 |
R5818:Krt10
|
UTSW |
11 |
99,279,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R6546:Krt10
|
UTSW |
11 |
99,278,221 (GRCm39) |
splice site |
probably null |
|
R6762:Krt10
|
UTSW |
11 |
99,277,883 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6925:Krt10
|
UTSW |
11 |
99,279,677 (GRCm39) |
missense |
probably damaging |
0.99 |
R6985:Krt10
|
UTSW |
11 |
99,276,456 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7196:Krt10
|
UTSW |
11 |
99,278,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R7772:Krt10
|
UTSW |
11 |
99,279,913 (GRCm39) |
missense |
unknown |
|
R7849:Krt10
|
UTSW |
11 |
99,278,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Krt10
|
UTSW |
11 |
99,280,086 (GRCm39) |
unclassified |
probably benign |
|
R8404:Krt10
|
UTSW |
11 |
99,278,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R8502:Krt10
|
UTSW |
11 |
99,278,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R8969:Krt10
|
UTSW |
11 |
99,278,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R9437:Krt10
|
UTSW |
11 |
99,276,390 (GRCm39) |
missense |
probably benign |
0.04 |
R9587:Krt10
|
UTSW |
11 |
99,277,420 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9753:Krt10
|
UTSW |
11 |
99,279,792 (GRCm39) |
missense |
unknown |
|
RF057:Krt10
|
UTSW |
11 |
99,277,025 (GRCm39) |
unclassified |
probably benign |
|
RF062:Krt10
|
UTSW |
11 |
99,280,090 (GRCm39) |
unclassified |
probably benign |
|
RF062:Krt10
|
UTSW |
11 |
99,277,025 (GRCm39) |
unclassified |
probably benign |
|
X0024:Krt10
|
UTSW |
11 |
99,278,848 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Krt10
|
UTSW |
11 |
99,278,325 (GRCm39) |
missense |
probably null |
1.00 |
Z1177:Krt10
|
UTSW |
11 |
99,277,058 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTAAATTAGGATTCGTGCTAGGC -3'
(R):5'- TCTTAGTGAAGCCCATGGAGC -3'
Sequencing Primer
(F):5'- CTGCACTGCCAAAGTTTGAG -3'
(R):5'- GTCCAGCCATAAGTCTGAAA -3'
|
Posted On |
2015-04-30 |