Incidental Mutation 'IGL00335:Xkr6'
| ID |
5869 |
| 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: 0.084)
|
| Stock # |
IGL00335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
63843952-64058258 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64056664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 192
(T192A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119973]
[ENSMUST00000120820]
|
| AlphaFold |
E9Q6C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119973
AA Change: T448A
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113708
Gene: ENSMUSG00000035067
AA Change: T448A
| 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 |
probably damaging
Transcript: ENSMUST00000120820
AA Change: T192A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112691
Gene: ENSMUSG00000035067
AA Change: T192A
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700048O20Rik |
C |
A |
9: 121,769,833 (GRCm39) |
|
noncoding transcript |
Het |
| 4930579F01Rik |
C |
A |
3: 137,891,959 (GRCm39) |
|
probably benign |
Het |
| Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
| Bace1 |
T |
C |
9: 45,750,588 (GRCm39) |
|
probably null |
Het |
| Chrne |
C |
T |
11: 70,506,588 (GRCm39) |
V311I |
probably benign |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Cyp2c70 |
C |
T |
19: 40,156,020 (GRCm39) |
V177M |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,801,328 (GRCm39) |
E365G |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,785,560 (GRCm39) |
N332K |
possibly damaging |
Het |
| Irx4 |
T |
C |
13: 73,416,810 (GRCm39) |
V402A |
probably benign |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,582,645 (GRCm39) |
|
probably benign |
Het |
| Lhfpl7 |
A |
G |
5: 113,383,869 (GRCm39) |
R96G |
probably benign |
Het |
| Lrrc8b |
T |
C |
5: 105,628,365 (GRCm39) |
I237T |
probably damaging |
Het |
| Mepe |
G |
T |
5: 104,485,843 (GRCm39) |
G328C |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,854,906 (GRCm39) |
I129T |
probably damaging |
Het |
| Or5h25 |
T |
C |
16: 58,930,961 (GRCm39) |
D4G |
probably benign |
Het |
| Or6c209 |
T |
C |
10: 129,483,306 (GRCm39) |
I103T |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,866,504 (GRCm39) |
D390G |
probably benign |
Het |
| Pglyrp3 |
G |
A |
3: 91,929,986 (GRCm39) |
V51I |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,121,279 (GRCm39) |
T470A |
probably damaging |
Het |
| Psmg1 |
G |
A |
16: 95,781,268 (GRCm39) |
T259I |
possibly damaging |
Het |
| Rtl3 |
T |
C |
X: 105,882,543 (GRCm39) |
T240A |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,824,385 (GRCm39) |
|
probably null |
Het |
| Slc10a6 |
A |
G |
5: 103,756,991 (GRCm39) |
S258P |
probably benign |
Het |
| Slc1a6 |
T |
C |
10: 78,637,647 (GRCm39) |
L391P |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,134,681 (GRCm39) |
V465M |
possibly damaging |
Het |
| Sost |
T |
C |
11: 101,857,705 (GRCm39) |
D32G |
probably damaging |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,282 (GRCm39) |
S54P |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,770,003 (GRCm39) |
S598T |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,809 (GRCm39) |
I890N |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,593 (GRCm39) |
D485G |
probably benign |
Het |
| Wee2 |
A |
T |
6: 40,438,995 (GRCm39) |
I373F |
probably damaging |
Het |
| Zfp638 |
A |
G |
6: 83,956,700 (GRCm39) |
D1769G |
probably damaging |
Het |
|
| Other mutations in Xkr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02352:Xkr6
|
APN |
14 |
64,057,156 (GRCm39) |
missense |
unknown |
|
|
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 |
2012-04-20 |
Incidental Mutation