Incidental Mutation 'R0044:Xkr9'
| ID |
18554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xkr9
|
| Ensembl Gene |
ENSMUSG00000067813 |
| Gene Name |
X-linked Kx blood group related 9 |
| Synonyms |
LOC381246 |
| MMRRC Submission |
038338-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0044 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
13738995-13771947 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 13754286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 93
(W93*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088542]
|
| AlphaFold |
Q5GH62 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000088542
AA Change: W93*
|
| SMART Domains |
Protein: ENSMUSP00000085900
Gene: ENSMUSG00000067813
AA Change: W93*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XK-related
|
9 |
346 |
2.8e-87 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 79.0%
- 3x: 68.4%
- 10x: 42.5%
- 20x: 22.8%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,453,357 (GRCm39) |
|
probably benign |
Het |
| Adcy2 |
A |
G |
13: 68,876,018 (GRCm39) |
S495P |
possibly damaging |
Het |
| Asxl1 |
C |
T |
2: 153,242,129 (GRCm39) |
T893I |
probably benign |
Het |
| Bpifb2 |
C |
T |
2: 153,724,599 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,279,138 (GRCm39) |
L190H |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,483,753 (GRCm39) |
V830A |
probably benign |
Het |
| Degs2 |
T |
C |
12: 108,658,413 (GRCm39) |
N189D |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,303,612 (GRCm39) |
A1431T |
probably damaging |
Het |
| Diras1 |
G |
T |
10: 80,857,972 (GRCm39) |
S93* |
probably null |
Het |
| Emc3 |
C |
G |
6: 113,508,344 (GRCm39) |
V34L |
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,358,020 (GRCm39) |
Y681* |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,355,457 (GRCm39) |
M2236K |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,302,520 (GRCm39) |
Y2948F |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,348,058 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,357,899 (GRCm39) |
I377F |
probably damaging |
Het |
| Mavs |
C |
A |
2: 131,083,944 (GRCm39) |
T147N |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,061,285 (GRCm39) |
V492A |
possibly damaging |
Het |
| Parvg |
A |
G |
15: 84,222,083 (GRCm39) |
E323G |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,899,539 (GRCm39) |
N51S |
probably benign |
Het |
| Plppr5 |
T |
A |
3: 117,465,538 (GRCm39) |
|
probably null |
Het |
| Prkcg |
A |
T |
7: 3,363,517 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
C |
A |
5: 99,120,989 (GRCm39) |
D411Y |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,004,566 (GRCm39) |
V63A |
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,600,476 (GRCm39) |
D10V |
probably benign |
Het |
| Rrm2b |
A |
G |
15: 37,953,932 (GRCm39) |
S39P |
possibly damaging |
Het |
| Scn5a |
A |
G |
9: 119,321,113 (GRCm39) |
|
probably null |
Het |
| Spata24 |
A |
G |
18: 35,789,887 (GRCm39) |
S167P |
probably damaging |
Het |
| Spock3 |
C |
T |
8: 63,597,041 (GRCm39) |
T115I |
possibly damaging |
Het |
| Tnfaip3 |
C |
A |
10: 18,887,374 (GRCm39) |
M50I |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,303,911 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,164,369 (GRCm39) |
|
probably benign |
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 |
|
IGL03222:Xkr9
|
APN |
1 |
13,771,505 (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 |
2013-03-25 |
Incidental Mutation