Incidental Mutation 'R3874:Krt9'
| ID |
276743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt9
|
| Ensembl Gene |
ENSMUSG00000051617 |
| Gene Name |
keratin 9 |
| Synonyms |
K9, Krt1-9 |
| MMRRC Submission |
040792-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3874 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100077607-100084072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100081675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 285
(V285I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059707]
|
| AlphaFold |
Q6RHW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059707
AA Change: V285I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000055255
Gene: ENSMUSG00000051617
AA Change: V285I
| 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 |
|
| Meta Mutation Damage Score |
0.1288 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130213A22Rik |
C |
A |
11: 69,012,301 (GRCm39) |
G26* |
probably null |
Het |
| Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
| Acox2 |
A |
G |
14: 8,248,061 (GRCm38) |
I407T |
probably benign |
Het |
| Adam8 |
T |
C |
7: 139,567,520 (GRCm39) |
N408D |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,708,925 (GRCm39) |
T39S |
probably benign |
Het |
| Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,386,790 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
A |
G |
8: 120,462,035 (GRCm39) |
I303V |
possibly damaging |
Het |
| Bpifc |
C |
T |
10: 85,827,118 (GRCm39) |
V144I |
probably benign |
Het |
| Camk4 |
A |
G |
18: 33,291,907 (GRCm39) |
E189G |
possibly damaging |
Het |
| Casz1 |
A |
G |
4: 149,024,046 (GRCm39) |
|
probably benign |
Het |
| Ccdc134 |
T |
C |
15: 82,015,643 (GRCm39) |
V41A |
possibly damaging |
Het |
| Chrd |
A |
T |
16: 20,557,660 (GRCm39) |
T753S |
probably damaging |
Het |
| Cracd |
A |
G |
5: 76,988,739 (GRCm39) |
D30G |
probably damaging |
Het |
| Cyb561a3 |
T |
C |
19: 10,562,735 (GRCm39) |
V125A |
probably benign |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,606 (GRCm39) |
T69S |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,410,842 (GRCm39) |
F1687S |
probably damaging |
Het |
| Dlgap4 |
T |
C |
2: 156,591,267 (GRCm39) |
S818P |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
| Dnai2 |
G |
T |
11: 114,623,781 (GRCm39) |
G15W |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,410,109 (GRCm39) |
I526V |
probably benign |
Het |
| Far2 |
G |
A |
6: 148,052,089 (GRCm39) |
E123K |
probably benign |
Het |
| Gli1 |
A |
T |
10: 127,166,088 (GRCm39) |
V1055E |
probably damaging |
Het |
| Hand2 |
G |
T |
8: 57,775,011 (GRCm39) |
A24S |
probably benign |
Het |
| Helb |
T |
C |
10: 119,941,942 (GRCm39) |
I249V |
probably benign |
Het |
| Hspa4l |
G |
A |
3: 40,727,074 (GRCm39) |
V492M |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,266,660 (GRCm39) |
I1916T |
probably damaging |
Het |
| Igfals |
G |
A |
17: 25,100,579 (GRCm39) |
V557I |
possibly damaging |
Het |
| Itpa |
T |
G |
2: 130,522,930 (GRCm39) |
S176A |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,375,345 (GRCm39) |
L353H |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,755,615 (GRCm39) |
F47L |
probably benign |
Het |
| Klhl13 |
T |
C |
X: 23,151,415 (GRCm39) |
D21G |
probably benign |
Het |
| Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,146 (GRCm39) |
R344G |
possibly damaging |
Het |
| Mier2 |
G |
T |
10: 79,377,631 (GRCm39) |
P439T |
possibly damaging |
Het |
| Mppe1 |
T |
A |
18: 67,358,957 (GRCm39) |
|
probably null |
Het |
| Nedd4l |
G |
A |
18: 65,300,606 (GRCm39) |
A243T |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,797,043 (GRCm39) |
C934* |
probably null |
Het |
| Nsmce3 |
C |
T |
7: 64,521,916 (GRCm39) |
D251N |
probably damaging |
Het |
| Or10a49 |
C |
T |
7: 108,468,335 (GRCm39) |
V9M |
probably damaging |
Het |
| Or12d12 |
T |
A |
17: 37,610,870 (GRCm39) |
T148S |
probably benign |
Het |
| Or3a10 |
A |
G |
11: 73,935,525 (GRCm39) |
C192R |
probably damaging |
Het |
| Or4f6 |
T |
C |
2: 111,838,668 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,779,874 (GRCm39) |
R234S |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,470 (GRCm39) |
I164T |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,034,067 (GRCm39) |
T6A |
probably benign |
Het |
| Picalm |
T |
A |
7: 89,838,427 (GRCm39) |
F493Y |
probably damaging |
Het |
| Prl7d1 |
A |
G |
13: 27,900,651 (GRCm39) |
M1T |
probably null |
Het |
| Prl8a1 |
T |
C |
13: 27,759,441 (GRCm39) |
K199E |
possibly damaging |
Het |
| Rims1 |
C |
T |
1: 22,498,740 (GRCm39) |
R764H |
probably damaging |
Het |
| Rnf17 |
G |
T |
14: 56,712,870 (GRCm39) |
R779L |
possibly damaging |
Het |
| Rufy2 |
T |
C |
10: 62,833,916 (GRCm39) |
L294P |
probably damaging |
Het |
| Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
| Slc22a30 |
G |
T |
19: 8,314,213 (GRCm39) |
T491K |
probably benign |
Het |
| Slc35b3 |
T |
C |
13: 39,127,044 (GRCm39) |
N20D |
possibly damaging |
Het |
| Slc5a4a |
T |
C |
10: 76,017,489 (GRCm39) |
F429L |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,887,636 (GRCm39) |
I270T |
probably damaging |
Het |
| Tmem51 |
T |
C |
4: 141,759,059 (GRCm39) |
T230A |
probably damaging |
Het |
| Tnc |
T |
A |
4: 63,926,947 (GRCm39) |
I860F |
probably damaging |
Het |
| Trh |
A |
T |
6: 92,220,679 (GRCm39) |
V61E |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,584,443 (GRCm39) |
T22222P |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,338,494 (GRCm39) |
K652* |
probably null |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,954 (GRCm39) |
F278L |
probably benign |
Het |
| Vmn2r7 |
A |
G |
3: 64,627,032 (GRCm39) |
F86L |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,856 (GRCm39) |
I70K |
possibly damaging |
Het |
| Vps13a |
C |
T |
19: 16,722,317 (GRCm39) |
A332T |
probably benign |
Het |
| Zfp568 |
T |
A |
7: 29,722,821 (GRCm39) |
C589S |
probably damaging |
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 |
|
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 |
|
|
R9438:Krt9
|
UTSW |
11 |
100,079,824 (GRCm39) |
missense |
unknown |
|
|
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'- ACACAGCATCCATTGGAGG -3'
(R):5'- TCACAGGTGGCATGCAATGG -3'
Sequencing Primer
(F):5'- CTATGCTGAGAGATGAAGAGGC -3'
(R):5'- CCTCTTTTGCATTCTGAGAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation