Incidental Mutation 'R1257:Xkr4'
| ID |
151481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xkr4
|
| Ensembl Gene |
ENSMUSG00000051951 |
| Gene Name |
X-linked Kx blood group related 4 |
| Synonyms |
|
| MMRRC Submission |
039324-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1257 (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 G
at 3287036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 385
(I385L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070533]
|
| AlphaFold |
Q5GH67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070533
AA Change: I385L
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: I385L
| 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: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
T |
2: 127,886,286 (GRCm39) |
T174S |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,710,665 (GRCm39) |
R408* |
probably null |
Het |
| Ceacam15 |
A |
G |
7: 16,405,949 (GRCm39) |
S201P |
possibly damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,708,117 (GRCm39) |
I241V |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,234,545 (GRCm39) |
L237* |
probably null |
Het |
| Col4a3 |
T |
A |
1: 82,694,086 (GRCm39) |
C133S |
probably damaging |
Het |
| Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,343,360 (GRCm39) |
V1568D |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,900,581 (GRCm39) |
Q1323* |
probably null |
Het |
| Grhpr |
A |
G |
4: 44,989,045 (GRCm39) |
N287S |
probably damaging |
Het |
| H2bl1 |
A |
T |
13: 99,121,023 (GRCm39) |
M1K |
probably null |
Het |
| Hectd4 |
G |
A |
5: 121,456,687 (GRCm39) |
W684* |
probably null |
Het |
| Kifc3 |
A |
G |
8: 95,832,400 (GRCm39) |
V474A |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,425,467 (GRCm39) |
V1462A |
unknown |
Het |
| Mdn1 |
A |
T |
4: 32,667,089 (GRCm39) |
|
probably null |
Het |
| Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,658,375 (GRCm39) |
Y707H |
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,903,738 (GRCm39) |
N339K |
probably damaging |
Het |
| Or6c209 |
A |
T |
10: 129,483,413 (GRCm39) |
K139* |
probably null |
Het |
| Rbm34 |
C |
T |
8: 127,697,643 (GRCm39) |
G23S |
possibly damaging |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Snap25 |
A |
T |
2: 136,600,268 (GRCm39) |
E37V |
probably damaging |
Het |
| Taf1a |
A |
G |
1: 183,179,175 (GRCm39) |
T118A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,625,049 (GRCm39) |
T1634A |
probably benign |
Het |
| Thrb |
T |
A |
14: 18,008,642 (GRCm38) |
I122K |
probably damaging |
Het |
| Zeb1 |
G |
T |
18: 5,772,699 (GRCm39) |
R996L |
possibly 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 |
|
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'- GAAGATGTAGATGATGCCCACCACC -3'
(R):5'- GCTATCTTGTCCCAAGACACCACG -3'
Sequencing Primer
(F):5'- TGATGCCCACCACCATGTC -3'
(R):5'- GTGGCTTGACCTCCCATAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation