Incidental Mutation 'R1242:Xkr4'
ID |
152029 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xkr4
|
Ensembl Gene |
ENSMUSG00000051951 |
Gene Name |
X-linked Kx blood group related 4 |
Synonyms |
|
MMRRC Submission |
039309-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1242 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
3276124-3741721 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3286360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 610
(D610V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070648
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070533]
|
AlphaFold |
Q5GH67 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070533
AA Change: D610V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070648 Gene: ENSMUSG00000051951 AA Change: D610V
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
99 |
N/A |
INTRINSIC |
Pfam:XK-related
|
111 |
513 |
2.6e-128 |
PFAM |
low complexity region
|
573 |
586 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162897
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bbs7 |
A |
G |
3: 36,632,576 (GRCm39) |
F549L |
probably damaging |
Het |
Cmc2 |
T |
C |
8: 117,637,937 (GRCm39) |
D4G |
probably damaging |
Het |
Cnr2 |
T |
A |
4: 135,644,294 (GRCm39) |
L124Q |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,981,513 (GRCm39) |
|
probably null |
Het |
Defb30 |
A |
T |
14: 63,273,455 (GRCm39) |
Y53N |
probably damaging |
Het |
Dtnb |
T |
A |
12: 3,782,627 (GRCm39) |
Y363* |
probably null |
Het |
Fam170a |
A |
G |
18: 50,415,206 (GRCm39) |
E284G |
probably damaging |
Het |
Gm16505 |
T |
A |
13: 3,411,109 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2h1 |
T |
C |
7: 46,462,175 (GRCm39) |
|
probably null |
Het |
Gucy1a1 |
C |
T |
3: 82,013,260 (GRCm39) |
|
probably null |
Het |
Hfm1 |
T |
A |
5: 107,022,767 (GRCm39) |
N945I |
probably damaging |
Het |
Hpse2 |
G |
A |
19: 42,955,416 (GRCm39) |
T327I |
probably benign |
Het |
Il3 |
T |
C |
11: 54,157,929 (GRCm39) |
I50V |
probably benign |
Het |
Mgat5b |
A |
G |
11: 116,869,230 (GRCm39) |
K591R |
probably benign |
Het |
Nup214 |
C |
T |
2: 31,867,782 (GRCm39) |
T83I |
probably benign |
Het |
Or2v2 |
A |
T |
11: 49,003,728 (GRCm39) |
V275E |
possibly damaging |
Het |
Rp1 |
T |
A |
1: 4,415,185 (GRCm39) |
I1976F |
probably benign |
Het |
Sardh |
T |
A |
2: 27,125,575 (GRCm39) |
D313V |
probably damaging |
Het |
Tent5c |
A |
T |
3: 100,380,192 (GRCm39) |
L188Q |
probably damaging |
Het |
Vmn1r173 |
C |
T |
7: 23,402,650 (GRCm39) |
P295L |
probably damaging |
Het |
Vmn1r38 |
A |
C |
6: 66,753,344 (GRCm39) |
Y257* |
probably null |
Het |
|
Other mutations in Xkr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03398:Xkr4
|
APN |
1 |
3,286,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R0200:Xkr4
|
UTSW |
1 |
3,740,886 (GRCm39) |
missense |
probably benign |
0.00 |
R0829:Xkr4
|
UTSW |
1 |
3,741,469 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0830:Xkr4
|
UTSW |
1 |
3,740,968 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0959:Xkr4
|
UTSW |
1 |
3,286,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R1257:Xkr4
|
UTSW |
1 |
3,287,036 (GRCm39) |
missense |
probably benign |
0.29 |
R2002:Xkr4
|
UTSW |
1 |
3,741,318 (GRCm39) |
missense |
probably benign |
|
R3896:Xkr4
|
UTSW |
1 |
3,286,414 (GRCm39) |
missense |
probably damaging |
0.99 |
R4006:Xkr4
|
UTSW |
1 |
3,491,998 (GRCm39) |
missense |
probably benign |
0.01 |
R4173:Xkr4
|
UTSW |
1 |
3,286,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R4770:Xkr4
|
UTSW |
1 |
3,286,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R4868:Xkr4
|
UTSW |
1 |
3,287,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R5103:Xkr4
|
UTSW |
1 |
3,740,911 (GRCm39) |
missense |
probably benign |
|
R5548:Xkr4
|
UTSW |
1 |
3,287,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R5602:Xkr4
|
UTSW |
1 |
3,286,751 (GRCm39) |
missense |
probably benign |
0.18 |
R5608:Xkr4
|
UTSW |
1 |
3,741,603 (GRCm39) |
start gained |
probably benign |
|
R5668:Xkr4
|
UTSW |
1 |
3,741,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R5901:Xkr4
|
UTSW |
1 |
3,286,901 (GRCm39) |
missense |
probably damaging |
0.99 |
R6296:Xkr4
|
UTSW |
1 |
3,286,793 (GRCm39) |
missense |
probably benign |
0.01 |
R6302:Xkr4
|
UTSW |
1 |
3,286,961 (GRCm39) |
missense |
probably damaging |
0.99 |
R6326:Xkr4
|
UTSW |
1 |
3,741,261 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6341:Xkr4
|
UTSW |
1 |
3,741,001 (GRCm39) |
missense |
probably benign |
|
R6911:Xkr4
|
UTSW |
1 |
3,741,544 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7086:Xkr4
|
UTSW |
1 |
3,287,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R7249:Xkr4
|
UTSW |
1 |
3,287,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R7571:Xkr4
|
UTSW |
1 |
3,740,911 (GRCm39) |
missense |
probably benign |
0.00 |
R7881:Xkr4
|
UTSW |
1 |
3,286,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R7952:Xkr4
|
UTSW |
1 |
3,740,842 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8332:Xkr4
|
UTSW |
1 |
3,492,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R9076:Xkr4
|
UTSW |
1 |
3,286,358 (GRCm39) |
nonsense |
probably null |
|
R9134:Xkr4
|
UTSW |
1 |
3,740,860 (GRCm39) |
missense |
probably benign |
|
R9618:Xkr4
|
UTSW |
1 |
3,741,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R9663:Xkr4
|
UTSW |
1 |
3,286,519 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Xkr4
|
UTSW |
1 |
3,741,205 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Xkr4
|
UTSW |
1 |
3,741,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTGTCATTATTGCCACAGCCC -3'
(R):5'- TCTGCCTCCAGAAGTAGCCACAAG -3'
Sequencing Primer
(F):5'- CACAGCCCTGCTGTTACC -3'
(R):5'- GCACACTACGGTCCATCTC -3'
|
Posted On |
2014-01-29 |