Incidental Mutation 'R3813:Krt9'
| ID |
274160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt9
|
| Ensembl Gene |
ENSMUSG00000051617 |
| Gene Name |
keratin 9 |
| Synonyms |
K9, Krt1-9 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3813 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100077607-100084072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100080503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 414
(E414D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059707]
|
| AlphaFold |
Q6RHW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059707
AA Change: E414D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055255
Gene: ENSMUSG00000051617
AA Change: E414D
| 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 |
0.3806 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 89,825,785 (GRCm39) |
D1018G |
possibly damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,738,193 (GRCm39) |
L562Q |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,618,117 (GRCm39) |
T1891A |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,267,831 (GRCm39) |
N648S |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,013,085 (GRCm39) |
I312F |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,790,679 (GRCm39) |
S457P |
probably benign |
Het |
| Cep120 |
G |
A |
18: 53,873,284 (GRCm39) |
|
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,471,190 (GRCm39) |
I493L |
possibly damaging |
Het |
| Cfap97d1 |
A |
T |
11: 101,882,314 (GRCm39) |
R106S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,655,209 (GRCm39) |
D31G |
possibly damaging |
Het |
| Cstf3 |
T |
C |
2: 104,439,466 (GRCm39) |
Y54H |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,299,136 (GRCm39) |
Y3179F |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,505,291 (GRCm39) |
|
probably null |
Het |
| Dll4 |
C |
A |
2: 119,161,510 (GRCm39) |
T364N |
possibly damaging |
Het |
| Doc2g |
C |
T |
19: 4,054,466 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
G |
2: 20,793,246 (GRCm39) |
E657G |
probably damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,371,577 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
T |
C |
17: 7,992,154 (GRCm39) |
H514R |
unknown |
Het |
| Gpat3 |
A |
G |
5: 101,039,505 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
A |
G |
17: 35,602,071 (GRCm39) |
H311R |
possibly damaging |
Het |
| Hipk4 |
T |
C |
7: 27,223,372 (GRCm39) |
L144S |
probably damaging |
Het |
| Hspa4 |
G |
A |
11: 53,161,806 (GRCm39) |
P449S |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,363,638 (GRCm39) |
V90A |
probably damaging |
Het |
| Klhl38 |
T |
C |
15: 58,185,953 (GRCm39) |
I259V |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,972 (GRCm39) |
E260G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
| Manba |
G |
A |
3: 135,269,023 (GRCm39) |
E643K |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,090,799 (GRCm39) |
L7Q |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,057,453 (GRCm39) |
P788S |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,105 (GRCm39) |
F13S |
probably damaging |
Het |
| Or6c70 |
T |
A |
10: 129,709,855 (GRCm39) |
Y257F |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,416,667 (GRCm39) |
R153* |
probably null |
Het |
| Plk3 |
T |
C |
4: 116,990,647 (GRCm39) |
Y89C |
probably damaging |
Het |
| Prss41 |
G |
A |
17: 24,056,596 (GRCm39) |
R160* |
probably null |
Het |
| Rae1 |
T |
A |
2: 172,848,666 (GRCm39) |
|
probably benign |
Het |
| Rbm17 |
T |
A |
2: 11,600,246 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
A |
T |
15: 76,588,694 (GRCm39) |
M1039K |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slit3 |
A |
G |
11: 35,566,806 (GRCm39) |
Y1026C |
probably damaging |
Het |
| Tbl2 |
T |
A |
5: 135,185,375 (GRCm39) |
|
probably null |
Het |
| Tex2 |
G |
A |
11: 106,402,770 (GRCm39) |
T1034I |
unknown |
Het |
| Tmem241 |
A |
T |
18: 12,200,167 (GRCm39) |
|
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,256,389 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
| Trmt1 |
T |
A |
8: 85,421,846 (GRCm39) |
|
probably benign |
Het |
| Vps37d |
G |
A |
5: 135,103,304 (GRCm39) |
Q113* |
probably null |
Het |
| Zup1 |
T |
C |
10: 33,816,218 (GRCm39) |
E242G |
possibly 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 |
|
|
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 |
|
|
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'- GGATGAAATCCTCAGTCCATCAG -3'
(R):5'- TGGAACATCCCTTCTGAAGTTTC -3'
Sequencing Primer
(F):5'- AGACCCTTGCATACTTTTCTAGATG -3'
(R):5'- CCTTTCGCTTCCTAGAAATCAGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation