Incidental Mutation 'R3874:Krt9'
| ID |
276743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt9
|
| Ensembl Gene |
ENSMUSG00000051617 |
| Gene Name |
keratin 9 |
| Synonyms |
Krt1-9, K9 |
| 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 |
100186781-100193246 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100190849 bp (GRCm38)
|
| 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: 69,121,475 (GRCm38) |
G26* |
probably null |
Het |
| Abca5 |
T |
A |
11: 110,310,233 (GRCm38) |
Y447F |
probably damaging |
Het |
| Acox2 |
A |
G |
14: 8,248,061 (GRCm38) |
I407T |
probably benign |
Het |
| Adam8 |
T |
C |
7: 139,987,607 (GRCm38) |
N408D |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,401,925 (GRCm38) |
T39S |
probably benign |
Het |
| Akap12 |
G |
A |
10: 4,357,590 (GRCm38) |
V1467I |
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,336,515 (GRCm38) |
|
probably null |
Het |
| Atp2c2 |
A |
G |
8: 119,735,296 (GRCm38) |
I303V |
possibly damaging |
Het |
| Bpifc |
C |
T |
10: 85,991,254 (GRCm38) |
V144I |
probably benign |
Het |
| C530008M17Rik |
A |
G |
5: 76,840,892 (GRCm38) |
D30G |
probably damaging |
Het |
| Camk4 |
A |
G |
18: 33,158,854 (GRCm38) |
E189G |
possibly damaging |
Het |
| Casz1 |
A |
G |
4: 148,939,589 (GRCm38) |
|
probably benign |
Het |
| Ccdc134 |
T |
C |
15: 82,131,442 (GRCm38) |
V41A |
possibly damaging |
Het |
| Chrd |
A |
T |
16: 20,738,910 (GRCm38) |
T753S |
probably damaging |
Het |
| Cyb561a3 |
T |
C |
19: 10,585,371 (GRCm38) |
V125A |
probably benign |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,606 (GRCm38) |
T69S |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,761,635 (GRCm38) |
F1687S |
probably damaging |
Het |
| Dlgap4 |
T |
C |
2: 156,749,347 (GRCm38) |
S818P |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,429,348 (GRCm38) |
I3965T |
probably damaging |
Het |
| Dnaic2 |
G |
T |
11: 114,732,955 (GRCm38) |
G15W |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,277,052 (GRCm38) |
I526V |
probably benign |
Het |
| Far2 |
G |
A |
6: 148,150,591 (GRCm38) |
E123K |
probably benign |
Het |
| Gli1 |
A |
T |
10: 127,330,219 (GRCm38) |
V1055E |
probably damaging |
Het |
| Hand2 |
G |
T |
8: 57,321,976 (GRCm38) |
A24S |
probably benign |
Het |
| Helb |
T |
C |
10: 120,106,037 (GRCm38) |
I249V |
probably benign |
Het |
| Hspa4l |
G |
A |
3: 40,772,642 (GRCm38) |
V492M |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,539,349 (GRCm38) |
I1916T |
probably damaging |
Het |
| Igfals |
G |
A |
17: 24,881,605 (GRCm38) |
V557I |
possibly damaging |
Het |
| Itpa |
T |
G |
2: 130,681,010 (GRCm38) |
S176A |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 25,885,317 (GRCm38) |
L353H |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,518,179 (GRCm38) |
F47L |
probably benign |
Het |
| Klhl13 |
T |
C |
X: 23,285,176 (GRCm38) |
D21G |
probably benign |
Het |
| Krt26 |
T |
C |
11: 99,334,744 (GRCm38) |
K304E |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,610,183 (GRCm38) |
R344G |
possibly damaging |
Het |
| Mier2 |
G |
T |
10: 79,541,797 (GRCm38) |
P439T |
possibly damaging |
Het |
| Mppe1 |
T |
A |
18: 67,225,886 (GRCm38) |
|
probably null |
Het |
| Nedd4l |
G |
A |
18: 65,167,535 (GRCm38) |
A243T |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,578,069 (GRCm38) |
C934* |
probably null |
Het |
| Nsmce3 |
C |
T |
7: 64,872,168 (GRCm38) |
D251N |
probably damaging |
Het |
| Olfr101 |
T |
A |
17: 37,299,979 (GRCm38) |
T148S |
probably benign |
Het |
| Olfr1156 |
T |
A |
2: 87,949,530 (GRCm38) |
R234S |
probably damaging |
Het |
| Olfr1310 |
T |
C |
2: 112,008,323 (GRCm38) |
T288A |
possibly damaging |
Het |
| Olfr139 |
A |
G |
11: 74,044,699 (GRCm38) |
C192R |
probably damaging |
Het |
| Olfr517 |
C |
T |
7: 108,869,128 (GRCm38) |
V9M |
probably damaging |
Het |
| Olfr937 |
A |
G |
9: 39,060,174 (GRCm38) |
I164T |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,045,628 (GRCm38) |
T6A |
probably benign |
Het |
| Picalm |
T |
A |
7: 90,189,219 (GRCm38) |
F493Y |
probably damaging |
Het |
| Prl7d1 |
A |
G |
13: 27,716,668 (GRCm38) |
M1T |
probably null |
Het |
| Prl8a1 |
T |
C |
13: 27,575,458 (GRCm38) |
K199E |
possibly damaging |
Het |
| Rims1 |
C |
T |
1: 22,428,489 (GRCm38) |
R764H |
probably damaging |
Het |
| Rnf17 |
G |
T |
14: 56,475,413 (GRCm38) |
R779L |
possibly damaging |
Het |
| Rufy2 |
T |
C |
10: 62,998,137 (GRCm38) |
L294P |
probably damaging |
Het |
| Sgsh |
A |
G |
11: 119,350,947 (GRCm38) |
L111P |
probably damaging |
Het |
| Slc22a30 |
G |
T |
19: 8,336,849 (GRCm38) |
T491K |
probably benign |
Het |
| Slc35b3 |
T |
C |
13: 38,943,068 (GRCm38) |
N20D |
possibly damaging |
Het |
| Slc5a4a |
T |
C |
10: 76,181,655 (GRCm38) |
F429L |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,817,412 (GRCm38) |
I270T |
probably damaging |
Het |
| Tmem51 |
T |
C |
4: 142,031,748 (GRCm38) |
T230A |
probably damaging |
Het |
| Tnc |
T |
A |
4: 64,008,710 (GRCm38) |
I860F |
probably damaging |
Het |
| Trh |
A |
T |
6: 92,243,698 (GRCm38) |
V61E |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,754,099 (GRCm38) |
T22222P |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,361,512 (GRCm38) |
K652* |
probably null |
Het |
| Usp34 |
C |
T |
11: 23,489,033 (GRCm38) |
P3532S |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,524,954 (GRCm38) |
F278L |
probably benign |
Het |
| Vmn2r7 |
A |
G |
3: 64,719,611 (GRCm38) |
F86L |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,479,987 (GRCm38) |
I70K |
possibly damaging |
Het |
| Vps13a |
C |
T |
19: 16,744,953 (GRCm38) |
A332T |
probably benign |
Het |
| Zfp568 |
T |
A |
7: 30,023,396 (GRCm38) |
C589S |
probably damaging |
Het |
|
| Other mutations in Krt9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00725:Krt9
|
APN |
11 |
100,190,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01695:Krt9
|
APN |
11 |
100,191,437 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02383:Krt9
|
APN |
11 |
100,191,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02529:Krt9
|
APN |
11 |
100,189,966 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02819:Krt9
|
APN |
11 |
100,191,520 (GRCm38) |
missense |
probably damaging |
1.00 |
|
droplet
|
UTSW |
11 |
100,190,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5944_Krt9_487
|
UTSW |
11 |
100,188,439 (GRCm38) |
missense |
unknown |
|
|
G1citation:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R1356:Krt9
|
UTSW |
11 |
100,188,814 (GRCm38) |
small insertion |
probably benign |
|
|
R1397:Krt9
|
UTSW |
11 |
100,192,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1498:Krt9
|
UTSW |
11 |
100,188,369 (GRCm38) |
nonsense |
probably null |
|
|
R1772:Krt9
|
UTSW |
11 |
100,191,305 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1871:Krt9
|
UTSW |
11 |
100,190,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1883:Krt9
|
UTSW |
11 |
100,188,697 (GRCm38) |
missense |
unknown |
|
|
R1985:Krt9
|
UTSW |
11 |
100,189,991 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2056:Krt9
|
UTSW |
11 |
100,191,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2253:Krt9
|
UTSW |
11 |
100,190,859 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R2305:Krt9
|
UTSW |
11 |
100,193,116 (GRCm38) |
missense |
unknown |
|
|
R2875:Krt9
|
UTSW |
11 |
100,189,205 (GRCm38) |
nonsense |
probably null |
|
|
R3813:Krt9
|
UTSW |
11 |
100,189,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4157:Krt9
|
UTSW |
11 |
100,188,649 (GRCm38) |
missense |
unknown |
|
|
R4762:Krt9
|
UTSW |
11 |
100,190,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4873:Krt9
|
UTSW |
11 |
100,190,037 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4875:Krt9
|
UTSW |
11 |
100,190,037 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4923:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R4973:Krt9
|
UTSW |
11 |
100,188,712 (GRCm38) |
missense |
unknown |
|
|
R5153:Krt9
|
UTSW |
11 |
100,191,242 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5658:Krt9
|
UTSW |
11 |
100,190,767 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5696:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R5944:Krt9
|
UTSW |
11 |
100,188,439 (GRCm38) |
missense |
unknown |
|
|
R6147:Krt9
|
UTSW |
11 |
100,188,839 (GRCm38) |
missense |
unknown |
|
|
R6403:Krt9
|
UTSW |
11 |
100,189,659 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6476:Krt9
|
UTSW |
11 |
100,190,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6822:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R7159:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R7174:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R7203:Krt9
|
UTSW |
11 |
100,190,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7805:Krt9
|
UTSW |
11 |
100,192,696 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7817:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R7822:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R7834:Krt9
|
UTSW |
11 |
100,192,666 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7947:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R7977:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R8943:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R9092:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R9099:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R9203:Krt9
|
UTSW |
11 |
100,188,908 (GRCm38) |
missense |
unknown |
|
|
R9313:Krt9
|
UTSW |
11 |
100,188,721 (GRCm38) |
missense |
unknown |
|
|
R9361:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R9370:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R9438:Krt9
|
UTSW |
11 |
100,188,998 (GRCm38) |
missense |
unknown |
|
|
R9448:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R9455:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R9620:Krt9
|
UTSW |
11 |
100,188,360 (GRCm38) |
missense |
unknown |
|
|
R9676:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
small deletion |
probably benign |
|
|
R9719:Krt9
|
UTSW |
11 |
100,189,077 (GRCm38) |
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