Incidental Mutation 'R5901:Xkr4'
ID |
456304 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xkr4
|
Ensembl Gene |
ENSMUSG00000051951 |
Gene Name |
X-linked Kx blood group related 4 |
Synonyms |
|
MMRRC Submission |
043239-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5901 (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 T
at 3286901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 430
(F430I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070648
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070533]
|
AlphaFold |
Q5GH67 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070533
AA Change: F430I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000070648 Gene: ENSMUSG00000051951 AA Change: F430I
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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
T |
A |
11: 99,728,163 (GRCm39) |
S227C |
unknown |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adamts15 |
C |
T |
9: 30,813,786 (GRCm39) |
R793H |
probably damaging |
Het |
Ankra2 |
A |
G |
13: 98,407,644 (GRCm39) |
E38G |
probably damaging |
Het |
Aqp8 |
G |
A |
7: 123,061,807 (GRCm39) |
C8Y |
probably damaging |
Het |
Atg9b |
A |
G |
5: 24,597,017 (GRCm39) |
|
probably benign |
Het |
Atp6v1b1 |
A |
G |
6: 83,735,339 (GRCm39) |
E469G |
possibly damaging |
Het |
B4gat1 |
T |
A |
19: 5,089,241 (GRCm39) |
Y79* |
probably null |
Het |
BB019430 |
T |
A |
10: 58,540,014 (GRCm39) |
|
noncoding transcript |
Het |
Calhm3 |
T |
C |
19: 47,146,052 (GRCm39) |
Y51C |
probably damaging |
Het |
Ccr2 |
C |
T |
9: 123,906,239 (GRCm39) |
T173I |
possibly damaging |
Het |
Cfap43 |
T |
C |
19: 47,885,538 (GRCm39) |
D359G |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,566,639 (GRCm39) |
E1022G |
possibly damaging |
Het |
Drd2 |
T |
A |
9: 49,318,259 (GRCm39) |
C400* |
probably null |
Het |
Efcab7 |
T |
A |
4: 99,766,941 (GRCm39) |
H495Q |
probably damaging |
Het |
Faim |
T |
C |
9: 98,874,195 (GRCm39) |
V29A |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,526,326 (GRCm39) |
S350P |
probably damaging |
Het |
Fbxw16 |
T |
C |
9: 109,270,285 (GRCm39) |
E152G |
probably benign |
Het |
Kif17 |
T |
C |
4: 138,025,643 (GRCm39) |
|
probably null |
Het |
Kif24 |
A |
T |
4: 41,428,604 (GRCm39) |
S119T |
probably damaging |
Het |
Ly6k |
A |
T |
15: 74,670,429 (GRCm39) |
S38T |
probably benign |
Het |
Mapk10 |
A |
G |
5: 103,061,158 (GRCm39) |
S430P |
probably damaging |
Het |
Megf10 |
G |
A |
18: 57,410,180 (GRCm39) |
A654T |
probably benign |
Het |
Mlph |
T |
C |
1: 90,867,536 (GRCm39) |
L450P |
probably damaging |
Het |
Otof |
T |
C |
5: 30,532,323 (GRCm39) |
D1603G |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,116,771 (GRCm39) |
S1580P |
possibly damaging |
Het |
Rad54b |
G |
A |
4: 11,595,919 (GRCm39) |
R232H |
possibly damaging |
Het |
Sar1b |
C |
T |
11: 51,670,576 (GRCm39) |
T40I |
possibly damaging |
Het |
Scyl2 |
C |
T |
10: 89,496,124 (GRCm39) |
S242N |
probably benign |
Het |
Sema4b |
A |
G |
7: 79,874,715 (GRCm39) |
N702D |
possibly damaging |
Het |
Slc16a11 |
A |
G |
11: 70,107,172 (GRCm39) |
I394V |
probably benign |
Het |
Stard9 |
A |
C |
2: 120,531,851 (GRCm39) |
T2703P |
probably damaging |
Het |
Stat5b |
A |
T |
11: 100,695,733 (GRCm39) |
L83Q |
possibly damaging |
Het |
Tas2r119 |
T |
A |
15: 32,177,932 (GRCm39) |
V166D |
possibly damaging |
Het |
Tmem117 |
T |
A |
15: 94,612,839 (GRCm39) |
I125N |
probably benign |
Het |
Tmem39a |
T |
C |
16: 38,393,568 (GRCm39) |
I89T |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,178,565 (GRCm39) |
H3272Q |
probably damaging |
Het |
Vmn1r7 |
T |
C |
6: 57,001,591 (GRCm39) |
E223G |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,603,796 (GRCm39) |
V658A |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,343,410 (GRCm39) |
T1884S |
possibly damaging |
Het |
Yae1d1 |
A |
G |
13: 18,164,200 (GRCm39) |
M1T |
probably null |
Het |
Zfand4 |
T |
C |
6: 116,265,084 (GRCm39) |
V183A |
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 |
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 |
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'- GGGATGGCAAATGCATCTGC -3'
(R):5'- TCCTACCAGAAGGCTCTTCG -3'
Sequencing Primer
(F):5'- CATCTGCAATCTGGGGAGC -3'
(R):5'- AGCTACATGGCTGTCATCATTCAG -3'
|
Posted On |
2017-02-15 |