Incidental Mutation 'IGL03170:Xkr9'
| ID |
411801 |
| 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: 0.065)
|
| Stock # |
IGL03170
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
13738995-13771947 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13771036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 184
(I184T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088542]
|
| AlphaFold |
Q5GH62 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088542
AA Change: I184T
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000085900
Gene: ENSMUSG00000067813
AA Change: I184T
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand2 |
A |
G |
6: 115,774,861 (GRCm39) |
D1023G |
probably damaging |
Het |
| Ccn1 |
C |
A |
3: 145,355,514 (GRCm39) |
A12S |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,060,809 (GRCm39) |
|
probably null |
Het |
| Cyp4f37 |
C |
T |
17: 32,844,093 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
T |
C |
2: 25,289,493 (GRCm39) |
F325S |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,818,261 (GRCm38) |
I37T |
possibly damaging |
Het |
| Gtpbp10 |
A |
G |
5: 5,605,355 (GRCm39) |
V116A |
probably benign |
Het |
| H2-T9 |
C |
T |
17: 36,439,605 (GRCm39) |
G125E |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,587,456 (GRCm39) |
N164I |
unknown |
Het |
| Nle1 |
T |
A |
11: 82,795,096 (GRCm39) |
T312S |
probably benign |
Het |
| Or10ab5 |
T |
C |
7: 108,245,307 (GRCm39) |
I159V |
probably benign |
Het |
| Pim1 |
T |
A |
17: 29,710,152 (GRCm39) |
L12Q |
possibly damaging |
Het |
| Plb1 |
G |
T |
5: 32,442,246 (GRCm39) |
C246F |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,557,033 (GRCm39) |
|
probably benign |
Het |
| Prl6a1 |
T |
A |
13: 27,499,406 (GRCm39) |
V63D |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 22,959,766 (GRCm39) |
A88T |
probably benign |
Het |
| Ranbp3l |
A |
T |
15: 9,029,611 (GRCm39) |
E31V |
probably damaging |
Het |
| Relch |
C |
T |
1: 105,663,680 (GRCm39) |
T943I |
probably damaging |
Het |
| Rgs9 |
G |
A |
11: 109,150,681 (GRCm39) |
T209I |
probably benign |
Het |
| Smg8 |
A |
G |
11: 86,977,434 (GRCm39) |
V49A |
probably damaging |
Het |
| Smim6 |
A |
T |
11: 115,804,314 (GRCm39) |
T34S |
possibly damaging |
Het |
| Snw1 |
T |
G |
12: 87,519,022 (GRCm39) |
T4P |
probably benign |
Het |
| Sod2 |
C |
A |
17: 13,227,257 (GRCm39) |
H70Q |
probably benign |
Het |
| Tro |
A |
G |
X: 149,438,556 (GRCm39) |
S34P |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
| Uggt1 |
A |
C |
1: 36,202,342 (GRCm39) |
V1085G |
probably damaging |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,847 (GRCm39) |
V199A |
probably damaging |
Het |
| Zfp369 |
T |
C |
13: 65,442,224 (GRCm39) |
S273P |
probably damaging |
Het |
| Zpld2 |
C |
T |
4: 133,920,345 (GRCm39) |
V607I |
possibly 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 |
|
IGL03222:Xkr9
|
APN |
1 |
13,771,505 (GRCm39) |
nonsense |
probably null |
|
|
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 |
Incidental Mutation