Incidental Mutation 'R1555:Xkr6'
| ID |
170238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xkr6
|
| Ensembl Gene |
ENSMUSG00000035067 |
| Gene Name |
X-linked Kx blood group related 6 |
| Synonyms |
|
| MMRRC Submission |
039594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R1555 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
63843952-64058258 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64056374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 95
(Y95C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119973]
[ENSMUST00000120820]
|
| AlphaFold |
E9Q6C8 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000119973
AA Change: Y351C
|
| SMART Domains |
Protein: ENSMUSP00000113708
Gene: ENSMUSG00000035067
AA Change: Y351C
| 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: Y95C
|
| SMART Domains |
Protein: ENSMUSP00000112691
Gene: ENSMUSG00000035067
AA Change: Y95C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XK-related
|
1 |
242 |
4.9e-105 |
PFAM |
|
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8417 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
96% (43/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,865,727 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,594,776 (GRCm39) |
T358S |
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,110,821 (GRCm39) |
F169I |
probably benign |
Het |
| Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,139,050 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
C |
T |
9: 105,878,085 (GRCm39) |
R1964Q |
possibly damaging |
Het |
| Dcakd |
C |
T |
11: 102,891,039 (GRCm39) |
V17I |
probably damaging |
Het |
| Dcdc5 |
T |
G |
2: 106,214,480 (GRCm39) |
|
noncoding transcript |
Het |
| Erc2 |
T |
A |
14: 27,733,622 (GRCm39) |
D557E |
probably damaging |
Het |
| Grid2 |
A |
T |
6: 64,406,668 (GRCm39) |
D676V |
possibly damaging |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Igkv10-96 |
C |
T |
6: 68,609,365 (GRCm39) |
|
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,844,893 (GRCm39) |
N248K |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,702,853 (GRCm39) |
I15F |
probably damaging |
Het |
| Neurl3 |
A |
G |
1: 36,305,613 (GRCm39) |
V198A |
probably benign |
Het |
| Notch2 |
C |
A |
3: 98,038,656 (GRCm39) |
N1266K |
possibly damaging |
Het |
| Nup107 |
A |
G |
10: 117,587,395 (GRCm39) |
|
probably benign |
Het |
| Or52e8b |
T |
C |
7: 104,673,729 (GRCm39) |
I153V |
probably benign |
Het |
| Or6d14 |
A |
T |
6: 116,533,787 (GRCm39) |
I134F |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,844,958 (GRCm39) |
H1334N |
possibly damaging |
Het |
| Phyhd1 |
T |
A |
2: 30,164,718 (GRCm39) |
I100N |
probably damaging |
Het |
| Rad21l |
T |
A |
2: 151,500,348 (GRCm39) |
T224S |
probably benign |
Het |
| Rxra |
C |
T |
2: 27,638,690 (GRCm39) |
A231V |
probably benign |
Het |
| Sac3d1 |
T |
C |
19: 6,168,435 (GRCm39) |
D61G |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,189,279 (GRCm39) |
Y481H |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,927,858 (GRCm39) |
E642G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,006,315 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Tedc1 |
G |
T |
12: 113,120,117 (GRCm39) |
|
probably benign |
Het |
| Tmem200a |
A |
T |
10: 25,869,782 (GRCm39) |
D162E |
probably damaging |
Het |
| Tmprss11e |
T |
A |
5: 86,863,447 (GRCm39) |
Q206L |
probably damaging |
Het |
| Tpra1 |
A |
G |
6: 88,887,185 (GRCm39) |
N175S |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,119,596 (GRCm39) |
E601G |
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,036,408 (GRCm39) |
D346Y |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,348,630 (GRCm39) |
V874A |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,332,788 (GRCm39) |
K258R |
probably benign |
Het |
| Zfp180 |
T |
C |
7: 23,800,999 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,727 (GRCm39) |
T147A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTAACCTGTGAGGAAGACCAGAG -3'
(R):5'- CTTGGACATGCAGAAGTCTGTCCC -3'
Sequencing Primer
(F):5'- CCAGCAAGGGAAGTCTGC -3'
(R):5'- TGGATGATCCAGAAGGCCAT -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation