Incidental Mutation 'R0829:Xkr4'
ID |
78414 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xkr4
|
Ensembl Gene |
ENSMUSG00000051951 |
Gene Name |
X-linked Kx blood group related 4 |
Synonyms |
|
MMRRC Submission |
039009-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0829 (G1)
|
Quality Score |
158 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
3276124-3741721 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3741469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 35
(A35T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070648
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070533]
|
AlphaFold |
Q5GH67 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070533
AA Change: A35T
PolyPhen 2
Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000070648 Gene: ENSMUSG00000051951 AA Change: A35T
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 |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
Validation Efficiency |
95% (37/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprh |
C |
A |
16: 38,266,150 (GRCm39) |
A331S |
probably benign |
Het |
Atp4b |
T |
G |
8: 13,440,098 (GRCm39) |
T83P |
probably damaging |
Het |
Ccdc177 |
T |
C |
12: 80,806,253 (GRCm39) |
E7G |
probably damaging |
Het |
Cercam |
G |
T |
2: 29,761,079 (GRCm39) |
R126L |
probably damaging |
Het |
Cpb1 |
C |
T |
3: 20,306,107 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,543,238 (GRCm39) |
M2311V |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,896,002 (GRCm39) |
V2458L |
probably benign |
Het |
Dnajb6 |
T |
C |
5: 29,990,020 (GRCm39) |
|
probably benign |
Het |
Dst |
A |
G |
1: 34,202,301 (GRCm39) |
T210A |
probably damaging |
Het |
Gfpt1 |
T |
C |
6: 87,030,847 (GRCm39) |
|
probably benign |
Het |
Grin1 |
C |
T |
2: 25,188,460 (GRCm39) |
D429N |
probably benign |
Het |
Iqck |
T |
C |
7: 118,499,111 (GRCm39) |
|
probably null |
Het |
Itgb5 |
A |
G |
16: 33,764,571 (GRCm39) |
I359V |
probably benign |
Het |
Lemd3 |
T |
C |
10: 120,814,988 (GRCm39) |
T82A |
probably benign |
Het |
Lrrc74b |
A |
G |
16: 17,376,254 (GRCm39) |
|
probably benign |
Het |
Mitf |
A |
T |
6: 97,980,869 (GRCm39) |
I246F |
possibly damaging |
Het |
Msgn1 |
C |
T |
12: 11,258,525 (GRCm39) |
R142Q |
probably damaging |
Het |
Myh8 |
C |
A |
11: 67,174,326 (GRCm39) |
|
probably benign |
Het |
Nacad |
C |
A |
11: 6,551,158 (GRCm39) |
V678L |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,725,596 (GRCm39) |
|
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or1s2 |
T |
A |
19: 13,758,556 (GRCm39) |
D191E |
probably damaging |
Het |
Or4c100 |
A |
T |
2: 88,356,572 (GRCm39) |
Y215F |
probably damaging |
Het |
Or4l15 |
C |
A |
14: 50,198,503 (GRCm39) |
V9L |
probably benign |
Het |
Or6d13 |
A |
G |
6: 116,518,226 (GRCm39) |
T271A |
probably benign |
Het |
Pcdh15 |
T |
A |
10: 74,338,598 (GRCm39) |
V1068E |
probably damaging |
Het |
Plat |
A |
G |
8: 23,262,273 (GRCm39) |
Y99C |
probably damaging |
Het |
Potefam1 |
G |
A |
2: 111,028,450 (GRCm39) |
T42I |
possibly damaging |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rbm25 |
T |
C |
12: 83,707,150 (GRCm39) |
|
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,316,570 (GRCm39) |
D998G |
probably damaging |
Het |
Serpinb6a |
A |
G |
13: 34,119,684 (GRCm39) |
|
probably benign |
Het |
Spef2 |
T |
C |
15: 9,687,899 (GRCm39) |
I507M |
probably benign |
Het |
Srebf2 |
T |
A |
15: 82,061,790 (GRCm39) |
|
probably null |
Het |
Stimate |
C |
T |
14: 30,584,842 (GRCm39) |
R56C |
probably damaging |
Het |
Tert |
T |
C |
13: 73,792,504 (GRCm39) |
C924R |
probably damaging |
Het |
Usp19 |
T |
C |
9: 108,371,000 (GRCm39) |
S221P |
probably benign |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
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 |
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 |
R1242:Xkr4
|
UTSW |
1 |
3,286,360 (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'- AGGCAGTCCCACAGCGAGTAAC -3'
(R):5'- AGGTCATCCTCTCCCTCGGAGTCAG -3'
Sequencing Primer
(F):5'- AGTAACGCCGCTGCTCC -3'
(R):5'- aaggaagccagggcgag -3'
|
Posted On |
2013-10-16 |