Incidental Mutation 'R9099:Krt9'
| ID |
691561 |
| 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 # |
R9099 (G1)
|
| Quality Score |
197.458 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100077607-100084072 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (8 aa in frame mutation) |
| DNA Base Change (assembly) |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC to TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC
at 100079903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059707]
|
| AlphaFold |
Q6RHW0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059707
|
| SMART Domains |
Protein: ENSMUSP00000055255
Gene: ENSMUSG00000051617
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
94% (61/65) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
T |
11: 109,871,708 (GRCm39) |
M90K |
probably damaging |
Het |
| Actn2 |
T |
C |
13: 12,303,516 (GRCm39) |
D428G |
probably damaging |
Het |
| Arrb1 |
T |
C |
7: 99,243,836 (GRCm39) |
V262A |
probably damaging |
Het |
| Bok |
A |
G |
1: 93,622,661 (GRCm39) |
I102V |
|
Het |
| C87436 |
T |
A |
6: 86,439,567 (GRCm39) |
F419L |
probably damaging |
Het |
| Capn15 |
A |
G |
17: 26,192,141 (GRCm39) |
C34R |
probably benign |
Het |
| Ccdc8 |
T |
A |
7: 16,728,800 (GRCm39) |
Y96* |
probably null |
Het |
| Cd274 |
T |
A |
19: 29,357,771 (GRCm39) |
C154* |
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,418,082 (GRCm39) |
|
probably benign |
Het |
| Ckap4 |
A |
T |
10: 84,369,402 (GRCm39) |
L110Q |
probably damaging |
Het |
| Col26a1 |
A |
T |
5: 136,777,202 (GRCm39) |
D335E |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,874,844 (GRCm39) |
V755I |
probably benign |
Het |
| Dhx38 |
A |
T |
8: 110,282,783 (GRCm39) |
Y628N |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,492,325 (GRCm39) |
K1155M |
probably benign |
Het |
| Ei24 |
A |
G |
9: 36,697,270 (GRCm39) |
F153L |
probably damaging |
Het |
| Erg |
T |
A |
16: 95,178,188 (GRCm39) |
E246D |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,982,000 (GRCm39) |
N99D |
possibly damaging |
Het |
| Fam222b |
G |
T |
11: 78,046,020 (GRCm39) |
R527L |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,875,135 (GRCm39) |
Y734C |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,619 (GRCm39) |
E196G |
possibly damaging |
Het |
| Gata5 |
G |
A |
2: 179,976,131 (GRCm39) |
P11L |
possibly damaging |
Het |
| Gbp3 |
A |
T |
3: 142,271,048 (GRCm39) |
S151C |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,901,320 (GRCm39) |
L1569P |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,523,041 (GRCm39) |
V742M |
probably damaging |
Het |
| Ifi27l2b |
A |
T |
12: 103,418,114 (GRCm39) |
N175K |
unknown |
Het |
| Itga1 |
A |
T |
13: 115,185,856 (GRCm39) |
Y49N |
probably damaging |
Het |
| Kcnk2 |
T |
C |
1: 188,991,072 (GRCm39) |
T167A |
probably damaging |
Het |
| Kirrel2 |
T |
A |
7: 30,147,642 (GRCm39) |
T669S |
probably benign |
Het |
| Lrit2 |
A |
T |
14: 36,790,812 (GRCm39) |
T164S |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,051,864 (GRCm39) |
V296A |
probably damaging |
Het |
| Malsu1 |
C |
T |
6: 49,050,731 (GRCm39) |
|
probably benign |
Het |
| Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
| Nfs1 |
C |
T |
2: 155,968,934 (GRCm39) |
G380E |
probably damaging |
Het |
| Nol4l |
C |
A |
2: 153,312,630 (GRCm39) |
R226L |
probably damaging |
Het |
| Nsmaf |
CAAACTTTTAAACTT |
CAAACTT |
4: 6,416,543 (GRCm39) |
|
probably null |
Het |
| Nup98 |
T |
A |
7: 101,844,173 (GRCm39) |
N54I |
probably damaging |
Het |
| Or7g21 |
C |
T |
9: 19,032,890 (GRCm39) |
P210L |
probably benign |
Het |
| Or8g22 |
A |
T |
9: 38,958,026 (GRCm39) |
C230S |
probably benign |
Het |
| Or8g53 |
A |
G |
9: 39,683,514 (GRCm39) |
I194T |
|
Het |
| Otoa |
T |
A |
7: 120,739,055 (GRCm39) |
F755I |
probably benign |
Het |
| P4htm |
A |
T |
9: 108,460,911 (GRCm39) |
M187K |
probably benign |
Het |
| Phldb3 |
C |
T |
7: 24,323,727 (GRCm39) |
R453C |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,922,986 (GRCm39) |
A94T |
|
Het |
| Pkp1 |
A |
G |
1: 135,805,429 (GRCm39) |
F669S |
probably benign |
Het |
| Prl8a2 |
C |
G |
13: 27,536,793 (GRCm39) |
Y138* |
probably null |
Het |
| Prl8a2 |
T |
A |
13: 27,536,794 (GRCm39) |
Y139N |
probably benign |
Het |
| Rtn4r |
T |
A |
16: 17,969,068 (GRCm39) |
N165K |
probably benign |
Het |
| Scaper |
G |
T |
9: 55,669,616 (GRCm39) |
D353E |
probably damaging |
Het |
| Scn4a |
G |
T |
11: 106,211,000 (GRCm39) |
D1672E |
probably damaging |
Het |
| She |
A |
G |
3: 89,739,078 (GRCm39) |
S90G |
probably benign |
Het |
| Shmt2 |
A |
T |
10: 127,355,962 (GRCm39) |
D130E |
possibly damaging |
Het |
| Slc2a12 |
T |
A |
10: 22,569,923 (GRCm39) |
I538K |
possibly damaging |
Het |
| Snx29 |
T |
A |
16: 11,478,435 (GRCm39) |
W322R |
probably damaging |
Het |
| Spp1 |
A |
G |
5: 104,588,387 (GRCm39) |
D263G |
probably benign |
Het |
| Srek1ip1 |
T |
C |
13: 104,973,964 (GRCm39) |
S124P |
possibly damaging |
Het |
| Tcp10b |
C |
T |
17: 13,280,656 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
T |
C |
7: 98,364,600 (GRCm39) |
F256S |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,845,497 (GRCm39) |
Y516H |
|
Het |
| Trem1 |
C |
A |
17: 48,544,271 (GRCm39) |
Q99K |
possibly damaging |
Het |
| Umodl1 |
C |
T |
17: 31,178,147 (GRCm39) |
P41L |
probably benign |
Het |
| Upp2 |
T |
C |
2: 58,457,542 (GRCm39) |
|
probably null |
Het |
| Zfand1 |
A |
T |
3: 10,406,148 (GRCm39) |
M181K |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,809,228 (GRCm39) |
E1277G |
possibly damaging |
Het |
| Zfp458 |
G |
T |
13: 67,405,696 (GRCm39) |
P248T |
probably damaging |
Het |
| Zfp667 |
T |
A |
7: 6,308,322 (GRCm39) |
M330K |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,917,107 (GRCm39) |
T561A |
|
Het |
| Zfp947 |
C |
T |
17: 22,364,855 (GRCm39) |
G273D |
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 |
|
|
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'- AGAGCTGCTTCCTCCTCCATAA -3'
(R):5'- GGGATGCCTCAGTTCACACTT -3'
Sequencing Primer
(F):5'- TAACCTCCTCCACTTTTTCCACCATG -3'
(R):5'- GGATGCCTCAGTTCACACTTAAGTC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation