Incidental Mutation 'IGL03222:Xkr9'
ID |
413678 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Xkr9
|
Ensembl Gene |
ENSMUSG00000067813 |
Gene Name |
X-linked Kx blood group related 9 |
Synonyms |
LOC381246 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
IGL03222
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
13738995-13771947 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 13771505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 340
(Y340*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088542]
|
AlphaFold |
Q5GH62 |
Predicted Effect |
probably null
Transcript: ENSMUST00000088542
AA Change: Y340*
|
SMART Domains |
Protein: ENSMUSP00000085900 Gene: ENSMUSG00000067813 AA Change: Y340*
Domain | Start | End | E-Value | Type |
Pfam:XK-related
|
9 |
346 |
2.8e-87 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
A |
G |
X: 126,303,093 (GRCm39) |
D344G |
probably benign |
Het |
Aqr |
A |
T |
2: 113,951,737 (GRCm39) |
L877Q |
probably damaging |
Het |
Ctr9 |
T |
C |
7: 110,642,257 (GRCm39) |
Y328H |
probably benign |
Het |
Ebf2 |
A |
G |
14: 67,649,441 (GRCm39) |
|
probably null |
Het |
Ebpl |
A |
G |
14: 61,579,682 (GRCm39) |
|
probably benign |
Het |
Efcab5 |
A |
T |
11: 77,028,193 (GRCm39) |
D515E |
probably benign |
Het |
Gon4l |
A |
G |
3: 88,802,950 (GRCm39) |
N1187S |
possibly damaging |
Het |
Hmces |
A |
G |
6: 87,902,674 (GRCm39) |
R172G |
probably damaging |
Het |
Ighv14-2 |
T |
C |
12: 113,958,114 (GRCm39) |
D109G |
possibly damaging |
Het |
Kcnn1 |
C |
T |
8: 71,300,843 (GRCm39) |
R423H |
probably damaging |
Het |
Muc13 |
T |
C |
16: 33,619,335 (GRCm39) |
S28P |
unknown |
Het |
Or5p70 |
A |
T |
7: 107,994,393 (GRCm39) |
D22V |
possibly damaging |
Het |
Or7e170 |
G |
T |
9: 19,795,495 (GRCm39) |
Y35* |
probably null |
Het |
Polg |
T |
C |
7: 79,104,404 (GRCm39) |
T824A |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 78,995,302 (GRCm39) |
V782D |
probably damaging |
Het |
Rin2 |
T |
A |
2: 145,702,115 (GRCm39) |
C270* |
probably null |
Het |
Sdk2 |
C |
A |
11: 113,729,257 (GRCm39) |
V1107L |
probably benign |
Het |
Sema5a |
T |
A |
15: 32,628,304 (GRCm39) |
V539E |
probably benign |
Het |
Tiam2 |
T |
C |
17: 3,488,983 (GRCm39) |
S764P |
probably damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,749,215 (GRCm39) |
Y211C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,586,083 (GRCm39) |
T21883A |
probably damaging |
Het |
Xkr5 |
T |
C |
8: 18,987,315 (GRCm39) |
T117A |
probably damaging |
Het |
|
Other mutations in Xkr9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01990:Xkr9
|
APN |
1 |
13,771,203 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02090:Xkr9
|
APN |
1 |
13,771,600 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02405:Xkr9
|
APN |
1 |
13,742,997 (GRCm39) |
splice site |
probably benign |
|
IGL02523:Xkr9
|
APN |
1 |
13,754,474 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02792:Xkr9
|
APN |
1 |
13,771,027 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02820:Xkr9
|
APN |
1 |
13,771,173 (GRCm39) |
missense |
probably benign |
|
IGL02821:Xkr9
|
APN |
1 |
13,742,799 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03170:Xkr9
|
APN |
1 |
13,771,036 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0044:Xkr9
|
UTSW |
1 |
13,754,286 (GRCm39) |
nonsense |
probably null |
|
R0044:Xkr9
|
UTSW |
1 |
13,754,286 (GRCm39) |
nonsense |
probably null |
|
R0595:Xkr9
|
UTSW |
1 |
13,771,008 (GRCm39) |
missense |
probably benign |
0.02 |
R1337:Xkr9
|
UTSW |
1 |
13,771,348 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1670:Xkr9
|
UTSW |
1 |
13,771,167 (GRCm39) |
missense |
probably damaging |
0.97 |
R5007:Xkr9
|
UTSW |
1 |
13,771,387 (GRCm39) |
missense |
probably damaging |
0.98 |
R6133:Xkr9
|
UTSW |
1 |
13,754,359 (GRCm39) |
missense |
probably benign |
0.01 |
R6302:Xkr9
|
UTSW |
1 |
13,742,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R8153:Xkr9
|
UTSW |
1 |
13,754,363 (GRCm39) |
missense |
probably benign |
0.10 |
R8440:Xkr9
|
UTSW |
1 |
13,771,603 (GRCm39) |
missense |
probably benign |
0.31 |
R8520:Xkr9
|
UTSW |
1 |
13,771,603 (GRCm39) |
missense |
probably benign |
0.31 |
R8823:Xkr9
|
UTSW |
1 |
13,742,832 (GRCm39) |
missense |
probably benign |
0.43 |
R8985:Xkr9
|
UTSW |
1 |
13,770,990 (GRCm39) |
missense |
probably benign |
|
R9084:Xkr9
|
UTSW |
1 |
13,742,733 (GRCm39) |
missense |
probably benign |
0.15 |
R9441:Xkr9
|
UTSW |
1 |
13,771,587 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9658:Xkr9
|
UTSW |
1 |
13,771,318 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Xkr9
|
UTSW |
1 |
13,742,858 (GRCm39) |
missense |
probably benign |
0.43 |
|
Posted On |
2016-08-02 |