Incidental Mutation 'G1citation:Krt9'
| ID |
660740 |
| 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 # |
G1citation (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100077607-100084072 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (16 aa in frame mutation) |
| DNA Base Change (assembly) |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC to TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
94% (46/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
G |
A |
11: 102,667,501 (GRCm39) |
R687Q |
possibly damaging |
Het |
| AI987944 |
A |
G |
7: 41,024,232 (GRCm39) |
L249P |
probably damaging |
Het |
| Ankrd28 |
T |
A |
14: 31,458,797 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
T |
C |
11: 120,178,547 (GRCm39) |
S2369P |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,887,377 (GRCm39) |
S902P |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,905,039 (GRCm39) |
K1277N |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,842,474 (GRCm39) |
E821G |
probably benign |
Het |
| Cct8l1 |
T |
C |
5: 25,722,937 (GRCm39) |
S551P |
possibly damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Cyp2c39 |
A |
T |
19: 39,525,261 (GRCm39) |
D188V |
probably damaging |
Het |
| Dclk3 |
G |
T |
9: 111,268,405 (GRCm39) |
A25S |
probably benign |
Het |
| Dpep2 |
A |
T |
8: 106,711,873 (GRCm39) |
M518K |
probably benign |
Het |
| Dst |
T |
C |
1: 34,314,755 (GRCm39) |
V6462A |
probably damaging |
Het |
| Entpd3 |
T |
C |
9: 120,391,104 (GRCm39) |
|
probably null |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,624 (GRCm39) |
V199A |
probably damaging |
Het |
| Fam193b |
A |
G |
13: 55,689,504 (GRCm39) |
|
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,441 (GRCm39) |
D2829G |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,806,781 (GRCm39) |
Y2250N |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
| H2-Aa |
C |
T |
17: 34,506,651 (GRCm39) |
|
probably null |
Het |
| Igsf9 |
T |
A |
1: 172,324,730 (GRCm39) |
S883T |
possibly damaging |
Het |
| Kcnh7 |
T |
G |
2: 62,618,248 (GRCm39) |
I414L |
probably damaging |
Het |
| Kcnma1 |
T |
C |
14: 24,053,812 (GRCm39) |
|
probably null |
Het |
| Kcnmb1 |
T |
C |
11: 33,914,686 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,747,340 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
T |
C |
3: 26,187,796 (GRCm39) |
T30A |
probably benign |
Het |
| Nucb1 |
A |
G |
7: 45,148,289 (GRCm39) |
F175L |
probably damaging |
Het |
| Pax6 |
T |
A |
2: 105,516,268 (GRCm39) |
V182E |
probably benign |
Het |
| Ptger1 |
A |
G |
8: 84,395,279 (GRCm39) |
D252G |
probably benign |
Het |
| Rexo4 |
T |
C |
2: 26,850,283 (GRCm39) |
D275G |
probably damaging |
Het |
| Ripk4 |
T |
C |
16: 97,547,236 (GRCm39) |
D342G |
probably damaging |
Het |
| Rpl10l |
A |
T |
12: 66,330,987 (GRCm39) |
C49S |
possibly damaging |
Het |
| Sema7a |
T |
C |
9: 57,867,619 (GRCm39) |
F457S |
probably damaging |
Het |
| Shank3 |
G |
A |
15: 89,415,830 (GRCm39) |
D155N |
probably damaging |
Het |
| Smpd3 |
G |
A |
8: 106,992,596 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
T |
C |
16: 17,458,097 (GRCm39) |
V465A |
probably damaging |
Het |
| Sohlh2 |
T |
C |
3: 55,115,107 (GRCm39) |
V364A |
probably damaging |
Het |
| Sos2 |
C |
T |
12: 69,697,423 (GRCm39) |
R99Q |
probably damaging |
Het |
| Spry2 |
G |
A |
14: 106,130,791 (GRCm39) |
Q132* |
probably null |
Het |
| Tbx19 |
G |
T |
1: 164,967,709 (GRCm39) |
P346Q |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,938,106 (GRCm39) |
Y981H |
probably damaging |
Het |
| Tinag |
T |
C |
9: 76,938,984 (GRCm39) |
K165E |
probably benign |
Het |
| Tubb4a |
A |
T |
17: 57,387,904 (GRCm39) |
I374N |
probably damaging |
Het |
| Umodl1 |
C |
T |
17: 31,205,528 (GRCm39) |
Q708* |
probably null |
Het |
| Vmn2r3 |
A |
T |
3: 64,194,876 (GRCm39) |
V14E |
probably benign |
Het |
| Zfp82 |
G |
A |
7: 29,755,712 (GRCm39) |
L457F |
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 |
|
|
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 |
|
|
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'- AGAGCTGCTTCCTCCTCCATAA -3'
(R):5'- GGATGCCTCAGTTCACACTT -3'
Sequencing Primer
(F):5'- TAACCTCCTCCACTTTTTCCACCATG -3'
(R):5'- GGATGCCTCAGTTCACACTTAAGTC -3'
|
| Posted On |
2021-02-01 |
Incidental Mutation