Incidental Mutation 'IGL02352:Xkr6'
| ID |
289530 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xkr6
|
| Ensembl Gene |
ENSMUSG00000035067 |
| Gene Name |
X-linked Kx blood group related 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL02352
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
63843952-64058258 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64057156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 356
(Y356H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119973]
[ENSMUST00000120820]
|
| AlphaFold |
E9Q6C8 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000119973
AA Change: Y612H
|
| SMART Domains |
Protein: ENSMUSP00000113708
Gene: ENSMUSG00000035067
AA Change: Y612H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
51 |
N/A |
INTRINSIC |
|
Pfam:XK-related
|
127 |
498 |
1.1e-125 |
PFAM |
|
low complexity region
|
627 |
638 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000120820
AA Change: Y356H
|
| SMART Domains |
Protein: ENSMUSP00000112691
Gene: ENSMUSG00000035067
AA Change: Y356H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XK-related
|
1 |
242 |
4.9e-105 |
PFAM |
|
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
C |
12: 72,941,829 (GRCm39) |
|
probably null |
Het |
| Abca5 |
T |
A |
11: 110,166,156 (GRCm39) |
N1540I |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,179,562 (GRCm39) |
|
probably null |
Het |
| Aldh2 |
T |
C |
5: 121,713,960 (GRCm39) |
E128G |
probably null |
Het |
| Anln |
A |
G |
9: 22,279,708 (GRCm39) |
V494A |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,715,288 (GRCm39) |
L50* |
probably null |
Het |
| Atp13a3 |
A |
G |
16: 30,169,902 (GRCm39) |
I392T |
probably damaging |
Het |
| C1qtnf5 |
A |
G |
9: 44,019,631 (GRCm39) |
E85G |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,020,990 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
G |
A |
1: 54,311,680 (GRCm39) |
R222H |
probably benign |
Het |
| Cdk5rap3 |
A |
T |
11: 96,807,003 (GRCm39) |
I9N |
probably damaging |
Het |
| Cmip |
A |
T |
8: 118,137,994 (GRCm39) |
|
probably benign |
Het |
| Cyp21a1 |
A |
G |
17: 35,023,196 (GRCm39) |
Y60H |
probably damaging |
Het |
| Cyp2d11 |
A |
G |
15: 82,278,121 (GRCm39) |
W10R |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,483,378 (GRCm39) |
Y2076H |
probably damaging |
Het |
| Dpcd |
G |
T |
19: 45,565,493 (GRCm39) |
A156S |
probably benign |
Het |
| Egflam |
T |
C |
15: 7,263,706 (GRCm39) |
N748S |
probably benign |
Het |
| Fam227b |
A |
G |
2: 125,988,174 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,540,073 (GRCm39) |
I654N |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,457,404 (GRCm39) |
N228K |
probably benign |
Het |
| Igkv3-2 |
T |
C |
6: 70,675,474 (GRCm39) |
L8P |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,009,267 (GRCm39) |
F734L |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,079,370 (GRCm39) |
Y276C |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,208 (GRCm39) |
S178T |
possibly damaging |
Het |
| Marchf6 |
C |
T |
15: 31,509,905 (GRCm39) |
C28Y |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,081,931 (GRCm39) |
T356A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,891,853 (GRCm39) |
E6893G |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,927 (GRCm39) |
L113P |
probably damaging |
Het |
| Pate7 |
A |
T |
9: 35,689,180 (GRCm39) |
M1K |
probably null |
Het |
| Pgap2 |
G |
T |
7: 101,885,346 (GRCm39) |
V71F |
probably damaging |
Het |
| Prob1 |
T |
G |
18: 35,785,893 (GRCm39) |
E787A |
possibly damaging |
Het |
| Psmd2 |
C |
A |
16: 20,475,691 (GRCm39) |
D430E |
probably benign |
Het |
| Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,441,803 (GRCm39) |
|
probably benign |
Het |
| Sgsm2 |
G |
T |
11: 74,782,900 (GRCm39) |
|
probably benign |
Het |
| Slc38a9 |
A |
G |
13: 112,826,720 (GRCm39) |
I153V |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,631,251 (GRCm39) |
D628E |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,362,727 (GRCm39) |
S145P |
probably benign |
Het |
| Sv2b |
T |
C |
7: 74,786,197 (GRCm39) |
T408A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,261,122 (GRCm39) |
C1626R |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,939,043 (GRCm39) |
T217M |
possibly damaging |
Het |
| Wdr95 |
G |
A |
5: 149,504,084 (GRCm39) |
V155M |
probably damaging |
Het |
| Wsb1 |
G |
A |
11: 79,141,838 (GRCm39) |
L60F |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 108,267,278 (GRCm39) |
R297* |
probably null |
Het |
|
| Other mutations in Xkr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Xkr6
|
APN |
14 |
64,056,664 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01419:Xkr6
|
APN |
14 |
64,056,325 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01450:Xkr6
|
APN |
14 |
64,035,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02010:Xkr6
|
APN |
14 |
64,056,653 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02359:Xkr6
|
APN |
14 |
64,057,156 (GRCm39) |
missense |
unknown |
|
|
R0148:Xkr6
|
UTSW |
14 |
64,056,998 (GRCm39) |
missense |
unknown |
|
|
R0521:Xkr6
|
UTSW |
14 |
64,056,871 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1555:Xkr6
|
UTSW |
14 |
64,056,374 (GRCm39) |
missense |
unknown |
|
|
R1619:Xkr6
|
UTSW |
14 |
64,056,766 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1874:Xkr6
|
UTSW |
14 |
64,035,745 (GRCm39) |
missense |
unknown |
|
|
R2864:Xkr6
|
UTSW |
14 |
64,057,205 (GRCm39) |
missense |
unknown |
|
|
R2960:Xkr6
|
UTSW |
14 |
63,844,586 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3014:Xkr6
|
UTSW |
14 |
64,056,793 (GRCm39) |
missense |
unknown |
|
|
R4888:Xkr6
|
UTSW |
14 |
64,056,953 (GRCm39) |
missense |
unknown |
|
|
R5019:Xkr6
|
UTSW |
14 |
64,056,515 (GRCm39) |
missense |
unknown |
|
|
R5193:Xkr6
|
UTSW |
14 |
64,056,356 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5354:Xkr6
|
UTSW |
14 |
64,056,353 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5485:Xkr6
|
UTSW |
14 |
64,056,833 (GRCm39) |
missense |
unknown |
|
|
R5825:Xkr6
|
UTSW |
14 |
64,056,481 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5885:Xkr6
|
UTSW |
14 |
63,844,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6074:Xkr6
|
UTSW |
14 |
63,844,519 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6861:Xkr6
|
UTSW |
14 |
64,057,093 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7289:Xkr6
|
UTSW |
14 |
64,035,748 (GRCm39) |
missense |
unknown |
|
|
R7477:Xkr6
|
UTSW |
14 |
63,844,129 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7525:Xkr6
|
UTSW |
14 |
64,056,610 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7528:Xkr6
|
UTSW |
14 |
64,056,610 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7529:Xkr6
|
UTSW |
14 |
64,056,610 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7646:Xkr6
|
UTSW |
14 |
63,844,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7686:Xkr6
|
UTSW |
14 |
63,844,295 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7697:Xkr6
|
UTSW |
14 |
63,844,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8331:Xkr6
|
UTSW |
14 |
64,056,392 (GRCm39) |
missense |
unknown |
|
|
R8702:Xkr6
|
UTSW |
14 |
64,057,103 (GRCm39) |
missense |
unknown |
|
|
R9169:Xkr6
|
UTSW |
14 |
63,844,067 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1176:Xkr6
|
UTSW |
14 |
63,844,394 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2015-04-16 |
Incidental Mutation