Incidental Mutation 'IGL01990:Xkr9'
ID |
182022 |
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 # |
IGL01990
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
13738995-13771947 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13771203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 240
(I240V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088542]
|
AlphaFold |
Q5GH62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088542
AA Change: I240V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000085900 Gene: ENSMUSG00000067813 AA Change: I240V
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl9 |
A |
G |
17: 33,653,068 (GRCm39) |
N376S |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,705,115 (GRCm39) |
D1565G |
probably damaging |
Het |
Atf5 |
T |
G |
7: 44,462,473 (GRCm39) |
D217A |
probably damaging |
Het |
Azgp1 |
T |
C |
5: 137,987,997 (GRCm39) |
W260R |
probably damaging |
Het |
Cnr2 |
C |
T |
4: 135,644,116 (GRCm39) |
R65C |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,226,859 (GRCm39) |
Y203C |
unknown |
Het |
Colec11 |
A |
G |
12: 28,644,985 (GRCm39) |
Y170H |
probably benign |
Het |
Exosc10 |
A |
G |
4: 148,650,867 (GRCm39) |
Q471R |
possibly damaging |
Het |
Gal3st1 |
G |
T |
11: 3,948,741 (GRCm39) |
W316L |
probably damaging |
Het |
Igfbp3 |
C |
A |
11: 7,158,504 (GRCm39) |
R253L |
probably damaging |
Het |
Kcnb2 |
A |
T |
1: 15,383,178 (GRCm39) |
D168V |
probably benign |
Het |
Khnyn |
T |
G |
14: 56,125,045 (GRCm39) |
I433S |
possibly damaging |
Het |
Naaa |
T |
A |
5: 92,415,922 (GRCm39) |
T193S |
possibly damaging |
Het |
Nsun7 |
G |
A |
5: 66,418,416 (GRCm39) |
D49N |
probably damaging |
Het |
Pappa |
T |
C |
4: 65,074,924 (GRCm39) |
|
probably benign |
Het |
Pfkfb2 |
A |
G |
1: 130,633,107 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
C |
T |
8: 110,387,438 (GRCm39) |
T1794I |
probably damaging |
Het |
Prex2 |
A |
C |
1: 11,193,457 (GRCm39) |
|
probably benign |
Het |
Slc2a7 |
T |
G |
4: 150,239,141 (GRCm39) |
I122S |
possibly damaging |
Het |
Slc31a2 |
A |
G |
4: 62,214,207 (GRCm39) |
K53E |
probably benign |
Het |
Slc35f4 |
C |
T |
14: 49,541,626 (GRCm39) |
|
probably null |
Het |
Slc38a7 |
C |
T |
8: 96,571,590 (GRCm39) |
W213* |
probably null |
Het |
Slc5a4b |
T |
C |
10: 75,896,188 (GRCm39) |
E589G |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,101,707 (GRCm39) |
N5407S |
probably damaging |
Het |
Tgm2 |
A |
T |
2: 157,966,051 (GRCm39) |
D534E |
probably benign |
Het |
Ugt1a7c |
A |
G |
1: 88,023,324 (GRCm39) |
Y161C |
probably damaging |
Het |
Vmn2r114 |
A |
G |
17: 23,529,355 (GRCm39) |
M249T |
probably benign |
Het |
Zfat |
A |
G |
15: 68,096,666 (GRCm39) |
L49P |
probably damaging |
Het |
Zfhx2 |
G |
T |
14: 55,311,047 (GRCm39) |
P549H |
probably damaging |
Het |
Zfp551 |
C |
T |
7: 12,156,343 (GRCm39) |
V25M |
possibly damaging |
Het |
|
Other mutations in Xkr9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2014-05-07 |