Incidental Mutation 'R5885:Xkr6'
| ID |
456055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xkr6
|
| Ensembl Gene |
ENSMUSG00000035067 |
| Gene Name |
X-linked Kx blood group related 6 |
| Synonyms |
|
| MMRRC Submission |
043237-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5885 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
63843952-64058258 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63844360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 128
(W128R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119973]
|
| AlphaFold |
E9Q6C8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119973
AA Change: W128R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113708
Gene: ENSMUSG00000035067
AA Change: W128R
| 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 |
noncoding transcript
Transcript: ENSMUST00000137259
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176510
AA Change: W79R
|
| SMART Domains |
Protein: ENSMUSP00000134975
Gene: ENSMUSG00000035067
AA Change: W79R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XK-related
|
79 |
207 |
1.8e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177500
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot10 |
T |
A |
15: 20,666,190 (GRCm39) |
M184L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,572,390 (GRCm39) |
S4924T |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,463,548 (GRCm39) |
M1027K |
possibly damaging |
Het |
| Axl |
T |
A |
7: 25,466,277 (GRCm39) |
K510I |
probably damaging |
Het |
| Azi2 |
T |
A |
9: 117,876,628 (GRCm39) |
I48N |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,668,927 (GRCm39) |
I720V |
probably benign |
Het |
| Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
| Epas1 |
A |
G |
17: 87,134,972 (GRCm39) |
D535G |
probably damaging |
Het |
| Fam47e |
A |
G |
5: 92,713,827 (GRCm39) |
K152R |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,667 (GRCm39) |
I260K |
probably benign |
Het |
| Fcgr3 |
A |
G |
1: 170,885,280 (GRCm39) |
V115A |
probably damaging |
Het |
| Fgf12 |
G |
T |
16: 28,217,046 (GRCm39) |
D98E |
possibly damaging |
Het |
| Flt3 |
T |
C |
5: 147,286,439 (GRCm39) |
T716A |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr141b |
A |
T |
13: 19,913,519 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
G |
16: 9,579,769 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Ifna4 |
T |
A |
4: 88,760,599 (GRCm39) |
W168R |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,670,132 (GRCm39) |
Y752C |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,896,547 (GRCm39) |
|
probably null |
Het |
| Kif24 |
A |
T |
4: 41,423,463 (GRCm39) |
Y263N |
probably damaging |
Het |
| Lama5 |
G |
T |
2: 179,843,624 (GRCm39) |
T441K |
probably damaging |
Het |
| Lrrc47 |
T |
A |
4: 154,100,429 (GRCm39) |
V335D |
possibly damaging |
Het |
| Map1b |
A |
T |
13: 99,566,589 (GRCm39) |
I2044N |
unknown |
Het |
| Mast2 |
C |
T |
4: 116,172,035 (GRCm39) |
G638S |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,778,503 (GRCm39) |
S1420P |
probably benign |
Het |
| Neurl2 |
T |
C |
2: 164,674,811 (GRCm39) |
T184A |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,822,944 (GRCm39) |
I577V |
probably benign |
Het |
| Nipal3 |
A |
T |
4: 135,199,288 (GRCm39) |
V186E |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,111,205 (GRCm39) |
T162M |
probably damaging |
Het |
| Plod2 |
T |
A |
9: 92,488,709 (GRCm39) |
|
probably null |
Het |
| Psg22 |
T |
A |
7: 18,452,257 (GRCm39) |
L19Q |
probably damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,711 (GRCm39) |
N245Y |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,016,246 (GRCm39) |
I539F |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,488,143 (GRCm39) |
L59P |
probably damaging |
Het |
| Slc2a9 |
G |
A |
5: 38,598,017 (GRCm39) |
R137W |
probably damaging |
Het |
| Spats2l |
C |
T |
1: 57,985,321 (GRCm39) |
A458V |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,907,144 (GRCm39) |
|
probably benign |
Het |
| Stox1 |
C |
A |
10: 62,500,627 (GRCm39) |
L644F |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,806,501 (GRCm39) |
G213E |
probably damaging |
Het |
| Tas2r121 |
T |
G |
6: 132,677,254 (GRCm39) |
L239F |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,731,603 (GRCm39) |
V854E |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,168,035 (GRCm39) |
Y763C |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGATGGCGGCGAAATCC -3'
(R):5'- TGTAGTCCTGCACGAACCAG -3'
Sequencing Primer
(F):5'- AGCTCGCTGCACATCTG -3'
(R):5'- CTGCACGAACCAGCGGAAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation