Incidental Mutation 'R4173:Xkr4'
ID |
318198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xkr4
|
Ensembl Gene |
ENSMUSG00000051951 |
Gene Name |
X-linked Kx blood group related 4 |
Synonyms |
|
MMRRC Submission |
041012-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4173 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
3276124-3741721 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3286711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 493
(F493S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070648
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070533]
|
AlphaFold |
Q5GH67 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070533
AA Change: F493S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070648 Gene: ENSMUSG00000051951 AA Change: F493S
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
Cdk1 |
T |
C |
10: 69,180,991 (GRCm39) |
D73G |
probably benign |
Het |
Cspg4 |
A |
G |
9: 56,795,214 (GRCm39) |
E983G |
probably damaging |
Het |
Gnmt |
A |
G |
17: 47,037,047 (GRCm39) |
V217A |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,153,540 (GRCm39) |
E142G |
probably damaging |
Het |
Nr1h5 |
C |
T |
3: 102,859,546 (GRCm39) |
R171H |
probably damaging |
Het |
Opcml |
C |
T |
9: 28,814,654 (GRCm39) |
T302I |
probably benign |
Het |
Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
Pigl |
T |
A |
11: 62,349,337 (GRCm39) |
F18I |
probably benign |
Het |
Pip4k2b |
T |
C |
11: 97,613,201 (GRCm39) |
K265R |
probably benign |
Het |
Rora |
C |
A |
9: 68,561,192 (GRCm39) |
T35K |
probably benign |
Het |
Serpinb9e |
A |
G |
13: 33,439,141 (GRCm39) |
N189S |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc25a45 |
C |
A |
19: 5,930,611 (GRCm39) |
Y99* |
probably null |
Het |
Smgc |
T |
C |
15: 91,744,759 (GRCm39) |
S655P |
possibly damaging |
Het |
Thbs2 |
A |
C |
17: 14,901,893 (GRCm39) |
|
probably null |
Het |
Timd2 |
T |
C |
11: 46,561,787 (GRCm39) |
T286A |
probably benign |
Het |
Trav6d-3 |
A |
G |
14: 52,962,806 (GRCm39) |
I14M |
probably benign |
Het |
Trim28 |
A |
G |
7: 12,763,805 (GRCm39) |
D622G |
probably benign |
Het |
Txnl4b |
G |
A |
8: 110,295,706 (GRCm39) |
V37I |
probably benign |
Het |
Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
Vps13c |
A |
G |
9: 67,843,595 (GRCm39) |
N1959D |
probably benign |
Het |
Xrn2 |
T |
C |
2: 146,889,612 (GRCm39) |
V665A |
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 |
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 |
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 |
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'- CAACACTGCGGTTGTTGGAG -3'
(R):5'- TGGATTGTCCACTGTGAGACAG -3'
Sequencing Primer
(F):5'- GAGATGGACCGTAGTGTGC -3'
(R):5'- ACATGGTGGTGGGCATCATCTAC -3'
|
Posted On |
2015-06-10 |