Incidental Mutation 'R1397:Krt9'
| ID |
160190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt9
|
| Ensembl Gene |
ENSMUSG00000051617 |
| Gene Name |
keratin 9 |
| Synonyms |
Krt1-9, K9 |
| MMRRC Submission |
039459-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1397 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100186781-100193246 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100192638 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 189
(L189Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059707]
|
| AlphaFold |
Q6RHW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059707
AA Change: L189Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055255
Gene: ENSMUSG00000051617
AA Change: L189Q
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.0%
|
| Validation Efficiency |
98% (59/60) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,285,759 (GRCm38) |
E1222G |
probably benign |
Het |
| Amph |
G |
A |
13: 19,142,028 (GRCm38) |
V643M |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,170,441 (GRCm38) |
|
probably benign |
Het |
| Arhgef10l |
C |
T |
4: 140,544,443 (GRCm38) |
G827D |
probably damaging |
Het |
| Chrac1 |
A |
G |
15: 73,090,444 (GRCm38) |
D3G |
possibly damaging |
Het |
| Dmrtb1 |
G |
C |
4: 107,677,039 (GRCm38) |
P349R |
probably damaging |
Het |
| Drd1 |
A |
G |
13: 54,053,554 (GRCm38) |
Y207H |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,636,509 (GRCm38) |
E2195K |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,262,348 (GRCm38) |
|
probably null |
Het |
| Fam13b |
C |
T |
18: 34,445,583 (GRCm38) |
M705I |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,417,778 (GRCm38) |
A488T |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,632,165 (GRCm38) |
I1409T |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,929,905 (GRCm38) |
|
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,240,807 (GRCm38) |
D569V |
probably benign |
Het |
| Mfsd11 |
T |
C |
11: 116,873,297 (GRCm38) |
F368S |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,243,943 (GRCm38) |
V3343F |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,433,294 (GRCm38) |
S130P |
probably benign |
Het |
| Nid1 |
G |
A |
13: 13,508,795 (GRCm38) |
A1153T |
possibly damaging |
Het |
| Nr2c2 |
T |
C |
6: 92,149,764 (GRCm38) |
I78T |
probably benign |
Het |
| Nrp1 |
T |
G |
8: 128,418,716 (GRCm38) |
Y84* |
probably null |
Het |
| Pate2 |
T |
A |
9: 35,669,695 (GRCm38) |
F2I |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,657,771 (GRCm38) |
S18P |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,534,762 (GRCm38) |
T155S |
probably benign |
Het |
| Rabl3 |
C |
T |
16: 37,539,974 (GRCm38) |
|
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,248,446 (GRCm38) |
V66I |
probably benign |
Het |
| Rimkla |
C |
T |
4: 119,468,111 (GRCm38) |
G367E |
probably benign |
Het |
| Rnpepl1 |
C |
A |
1: 92,917,159 (GRCm38) |
T391N |
probably damaging |
Het |
| Rnps1 |
C |
T |
17: 24,412,057 (GRCm38) |
|
probably benign |
Het |
| Rrs1 |
G |
A |
1: 9,545,767 (GRCm38) |
E82K |
probably damaging |
Het |
| Slc25a48 |
A |
C |
13: 56,465,051 (GRCm38) |
D254A |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,460,531 (GRCm38) |
C659* |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,281,654 (GRCm38) |
V830M |
possibly damaging |
Het |
| Spata31d1a |
C |
T |
13: 59,705,039 (GRCm38) |
|
probably benign |
Het |
| Srrm1 |
A |
C |
4: 135,321,431 (GRCm38) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,300,261 (GRCm38) |
V247A |
possibly damaging |
Het |
| Tnks2 |
T |
C |
19: 36,880,501 (GRCm38) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,310,434 (GRCm38) |
|
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,365,621 (GRCm38) |
I341F |
probably damaging |
Het |
| Trim55 |
T |
C |
3: 19,644,637 (GRCm38) |
F10S |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 64,217,658 (GRCm38) |
W369R |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 145,141,334 (GRCm38) |
R1976H |
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 |
|
|
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 |
|
R3874:Krt9
|
UTSW |
11 |
100,190,849 (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'- AGAAAGCTCCAGATAGGTCCTAGCC -3'
(R):5'- TCGTTATGCAGAACCTCAATTCCCG -3'
Sequencing Primer
(F):5'- GCTAGTATTAATCCAGGCTTCCTC -3'
(R):5'- GTCTGGCCTCTTACATGGAGAAAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation