Incidental Mutation 'R9438:Krt9'
ID |
713393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt9
|
Ensembl Gene |
ENSMUSG00000051617 |
Gene Name |
keratin 9 |
Synonyms |
K9, Krt1-9 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9438 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
100077607-100084072 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100079824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 523
(Y523H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059707]
|
AlphaFold |
Q6RHW0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000059707
AA Change: Y523H
|
SMART Domains |
Protein: ENSMUSP00000055255 Gene: ENSMUSG00000051617 AA Change: Y523H
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
125 |
N/A |
INTRINSIC |
Filament
|
130 |
442 |
2.96e-124 |
SMART |
low complexity region
|
462 |
716 |
N/A |
INTRINSIC |
low complexity region
|
721 |
737 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (60/60) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp2 |
G |
A |
2: 91,033,339 (GRCm39) |
M20I |
probably benign |
Het |
Adgra1 |
C |
T |
7: 139,432,525 (GRCm39) |
P121L |
probably benign |
Het |
Arhgap39 |
C |
A |
15: 76,636,118 (GRCm39) |
R39L |
probably damaging |
Het |
Atp1b3 |
A |
T |
9: 96,215,631 (GRCm39) |
N261K |
possibly damaging |
Het |
Atp8b3 |
C |
T |
10: 80,361,409 (GRCm39) |
A838T |
probably damaging |
Het |
Cacng8 |
G |
A |
7: 3,463,919 (GRCm39) |
S357N |
unknown |
Het |
Calhm5 |
T |
C |
10: 33,972,049 (GRCm39) |
M129V |
probably benign |
Het |
Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
Cdk19 |
T |
A |
10: 40,352,176 (GRCm39) |
D319E |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,799,078 (GRCm39) |
S2336P |
probably benign |
Het |
Cntn1 |
G |
A |
15: 92,144,024 (GRCm39) |
|
probably null |
Het |
Cts6 |
G |
A |
13: 61,350,069 (GRCm39) |
T4I |
probably benign |
Het |
Ddt |
A |
T |
10: 75,607,332 (GRCm39) |
I98N |
probably damaging |
Het |
Diaph1 |
A |
C |
18: 38,026,443 (GRCm39) |
V465G |
unknown |
Het |
Dnah2 |
G |
T |
11: 69,364,220 (GRCm39) |
D2064E |
probably damaging |
Het |
Dnmt1 |
T |
C |
9: 20,827,190 (GRCm39) |
N969D |
probably benign |
Het |
Dot1l |
T |
A |
10: 80,627,120 (GRCm39) |
V1447E |
probably benign |
Het |
Efs |
T |
A |
14: 55,156,868 (GRCm39) |
D389V |
|
Het |
Gbp11 |
T |
A |
5: 105,474,471 (GRCm39) |
K402* |
probably null |
Het |
Grm7 |
A |
T |
6: 111,231,077 (GRCm39) |
D500V |
possibly damaging |
Het |
Hecw1 |
T |
C |
13: 14,481,414 (GRCm39) |
M439V |
probably benign |
Het |
Ice1 |
A |
G |
13: 70,754,434 (GRCm39) |
S551P |
probably benign |
Het |
Igsf9b |
T |
C |
9: 27,243,839 (GRCm39) |
S779P |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,068,166 (GRCm39) |
N2437S |
probably benign |
Het |
Kbtbd12 |
G |
A |
6: 88,591,040 (GRCm39) |
Q391* |
probably null |
Het |
Kcnma1 |
T |
C |
14: 23,417,653 (GRCm39) |
I859V |
probably benign |
Het |
Klri1 |
A |
C |
6: 129,675,879 (GRCm39) |
D130E |
probably benign |
Het |
Ldhc |
G |
T |
7: 46,515,857 (GRCm39) |
V51F |
possibly damaging |
Het |
Macf1 |
G |
T |
4: 123,279,366 (GRCm39) |
D5890E |
probably benign |
Het |
Map4k4 |
A |
G |
1: 40,045,952 (GRCm39) |
S613G |
probably damaging |
Het |
Mrpl55 |
A |
G |
11: 59,096,581 (GRCm39) |
D118G |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,559,028 (GRCm39) |
T2422A |
unknown |
Het |
Nfkbib |
T |
A |
7: 28,459,654 (GRCm39) |
D219V |
probably damaging |
Het |
Nsd2 |
A |
G |
5: 34,000,632 (GRCm39) |
K50E |
probably damaging |
Het |
Nudcd1 |
C |
T |
15: 44,269,321 (GRCm39) |
R113H |
probably benign |
Het |
Or5p55 |
A |
T |
7: 107,567,000 (GRCm39) |
Y132F |
probably damaging |
Het |
Or7e170 |
C |
T |
9: 19,795,083 (GRCm39) |
E173K |
probably benign |
Het |
Or7g19 |
T |
A |
9: 18,856,326 (GRCm39) |
C127* |
probably null |
Het |
Papln |
A |
T |
12: 83,818,606 (GRCm39) |
T63S |
probably benign |
Het |
Pax4 |
T |
C |
6: 28,446,185 (GRCm39) |
I103V |
possibly damaging |
Het |
Pitpnm2 |
G |
A |
5: 124,269,342 (GRCm39) |
H427Y |
probably damaging |
Het |
Plk5 |
T |
A |
10: 80,193,867 (GRCm39) |
V52E |
probably damaging |
Het |
Prr23a4 |
G |
A |
9: 98,785,833 (GRCm39) |
S166N |
probably benign |
Het |
Rab44 |
A |
G |
17: 29,364,226 (GRCm39) |
H600R |
unknown |
Het |
Rbbp6 |
G |
A |
7: 122,599,456 (GRCm39) |
V1256I |
|
Het |
Rexo1 |
T |
A |
10: 80,378,848 (GRCm39) |
T1063S |
possibly damaging |
Het |
Rp1l1 |
A |
G |
14: 64,265,574 (GRCm39) |
R387G |
possibly damaging |
Het |
Rufy3 |
T |
C |
5: 88,796,124 (GRCm39) |
S603P |
probably benign |
Het |
Setd1b |
A |
G |
5: 123,285,944 (GRCm39) |
H330R |
unknown |
Het |
Strc |
A |
T |
2: 121,198,647 (GRCm39) |
W1415R |
probably damaging |
Het |
Tcstv5 |
A |
G |
13: 120,411,363 (GRCm39) |
L81P |
probably benign |
Het |
Terf2 |
C |
A |
8: 107,803,504 (GRCm39) |
A359S |
probably benign |
Het |
Tmod1 |
A |
G |
4: 46,093,958 (GRCm39) |
N223S |
probably damaging |
Het |
Tram2 |
T |
A |
1: 21,075,834 (GRCm39) |
I195F |
possibly damaging |
Het |
Trap1 |
T |
C |
16: 3,883,131 (GRCm39) |
Q148R |
probably benign |
Het |
Tsks |
C |
T |
7: 44,607,095 (GRCm39) |
R143* |
probably null |
Het |
Ttc14 |
T |
A |
3: 33,858,861 (GRCm39) |
H373Q |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,747,748 (GRCm39) |
K4434E |
probably benign |
Het |
Usp7 |
T |
C |
16: 8,522,833 (GRCm39) |
D347G |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,858,314 (GRCm39) |
E2170G |
|
Het |
Xrn1 |
T |
C |
9: 95,893,287 (GRCm39) |
I1001T |
probably benign |
Het |
|
Other mutations in Krt9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00725:Krt9
|
APN |
11 |
100,080,832 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01695:Krt9
|
APN |
11 |
100,082,263 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02383:Krt9
|
APN |
11 |
100,082,041 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02529:Krt9
|
APN |
11 |
100,080,792 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02819:Krt9
|
APN |
11 |
100,082,346 (GRCm39) |
missense |
probably damaging |
1.00 |
droplet
|
UTSW |
11 |
100,081,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R5944_Krt9_487
|
UTSW |
11 |
100,079,265 (GRCm39) |
missense |
unknown |
|
G1citation:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R1356:Krt9
|
UTSW |
11 |
100,079,640 (GRCm39) |
small insertion |
probably benign |
|
R1397:Krt9
|
UTSW |
11 |
100,083,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R1498:Krt9
|
UTSW |
11 |
100,079,195 (GRCm39) |
nonsense |
probably null |
|
R1772:Krt9
|
UTSW |
11 |
100,082,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R1871:Krt9
|
UTSW |
11 |
100,081,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R1883:Krt9
|
UTSW |
11 |
100,079,523 (GRCm39) |
missense |
unknown |
|
R1985:Krt9
|
UTSW |
11 |
100,080,817 (GRCm39) |
missense |
probably benign |
0.02 |
R2056:Krt9
|
UTSW |
11 |
100,082,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R2253:Krt9
|
UTSW |
11 |
100,081,685 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2305:Krt9
|
UTSW |
11 |
100,083,942 (GRCm39) |
missense |
unknown |
|
R2875:Krt9
|
UTSW |
11 |
100,080,031 (GRCm39) |
nonsense |
probably null |
|
R3813:Krt9
|
UTSW |
11 |
100,080,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R3874:Krt9
|
UTSW |
11 |
100,081,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R4157:Krt9
|
UTSW |
11 |
100,079,475 (GRCm39) |
missense |
unknown |
|
R4762:Krt9
|
UTSW |
11 |
100,081,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R4873:Krt9
|
UTSW |
11 |
100,080,863 (GRCm39) |
missense |
probably benign |
0.06 |
R4875:Krt9
|
UTSW |
11 |
100,080,863 (GRCm39) |
missense |
probably benign |
0.06 |
R4923:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R4973:Krt9
|
UTSW |
11 |
100,079,538 (GRCm39) |
missense |
unknown |
|
R5153:Krt9
|
UTSW |
11 |
100,082,068 (GRCm39) |
missense |
probably damaging |
0.99 |
R5658:Krt9
|
UTSW |
11 |
100,081,593 (GRCm39) |
missense |
probably damaging |
0.98 |
R5696:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R5944:Krt9
|
UTSW |
11 |
100,079,265 (GRCm39) |
missense |
unknown |
|
R6147:Krt9
|
UTSW |
11 |
100,079,665 (GRCm39) |
missense |
unknown |
|
R6403:Krt9
|
UTSW |
11 |
100,080,485 (GRCm39) |
missense |
probably damaging |
0.99 |
R6476:Krt9
|
UTSW |
11 |
100,081,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R6822:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7159:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7174:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7203:Krt9
|
UTSW |
11 |
100,081,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R7805:Krt9
|
UTSW |
11 |
100,083,522 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7817:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7822:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7834:Krt9
|
UTSW |
11 |
100,083,492 (GRCm39) |
missense |
probably benign |
0.06 |
R7947:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7977:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R8943:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9092:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9099:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9203:Krt9
|
UTSW |
11 |
100,079,734 (GRCm39) |
missense |
unknown |
|
R9313:Krt9
|
UTSW |
11 |
100,079,547 (GRCm39) |
missense |
unknown |
|
R9361:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9370:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9448:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9455:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9620:Krt9
|
UTSW |
11 |
100,079,186 (GRCm39) |
missense |
unknown |
|
R9676:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9719:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTTCCTCCACCATAGCTGC -3'
(R):5'- ATTGGCTTTGGAAGTGGCAAA -3'
Sequencing Primer
(F):5'- ACCATAGCTGCCCCCACTTC -3'
(R):5'- GGAAGTGGTGGCAGCTATG -3'
|
Posted On |
2022-05-16 |