Incidental Mutation 'R3896:Xkr4'
| ID |
310521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xkr4
|
| Ensembl Gene |
ENSMUSG00000051951 |
| Gene Name |
X-linked Kx blood group related 4 |
| Synonyms |
|
| MMRRC Submission |
040807-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3896 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
3276124-3741721 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3286414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 592
(I592T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070533]
|
| AlphaFold |
Q5GH67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070533
AA Change: I592T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: I592T
| 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
|
| Meta Mutation Damage Score |
0.3573 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
T |
3: 146,356,868 (GRCm39) |
N13K |
possibly damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Arhgap20 |
A |
T |
9: 51,728,137 (GRCm39) |
I117F |
probably damaging |
Het |
| Asz1 |
A |
G |
6: 18,075,766 (GRCm39) |
I269T |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,263,589 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
A |
T |
3: 89,864,626 (GRCm39) |
I163K |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,640,980 (GRCm39) |
F700L |
probably damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,916,984 (GRCm39) |
D580G |
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,540,392 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
T |
C |
19: 39,130,722 (GRCm39) |
V112A |
possibly damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,610 (GRCm39) |
C356S |
probably damaging |
Het |
| Emb |
A |
G |
13: 117,409,598 (GRCm39) |
*331W |
probably null |
Het |
| Enpp3 |
A |
C |
10: 24,653,847 (GRCm39) |
S703R |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,596,008 (GRCm39) |
|
probably benign |
Het |
| Foxp1 |
T |
A |
6: 99,052,897 (GRCm39) |
Q97L |
probably benign |
Het |
| Gdf10 |
A |
T |
14: 33,656,438 (GRCm39) |
N467Y |
probably damaging |
Het |
| Gm29394 |
C |
T |
15: 57,912,024 (GRCm39) |
|
probably benign |
Het |
| Gsn |
T |
C |
2: 35,192,650 (GRCm39) |
S522P |
possibly damaging |
Het |
| Hydin |
T |
A |
8: 111,235,711 (GRCm39) |
F1899I |
possibly damaging |
Het |
| Ints1 |
C |
A |
5: 139,743,399 (GRCm39) |
E1658* |
probably null |
Het |
| Jakmip2 |
A |
T |
18: 43,682,751 (GRCm39) |
F691Y |
probably benign |
Het |
| Klhl28 |
A |
G |
12: 65,004,333 (GRCm39) |
F60S |
probably damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,469,719 (GRCm39) |
S992L |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,812,440 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,364,987 (GRCm39) |
I3258N |
possibly damaging |
Het |
| Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
| Matcap1 |
T |
A |
8: 106,009,920 (GRCm39) |
H343L |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,812,420 (GRCm39) |
V739E |
probably damaging |
Het |
| Naa35 |
C |
T |
13: 59,755,109 (GRCm39) |
T185I |
probably damaging |
Het |
| Or10v9 |
T |
C |
19: 11,832,951 (GRCm39) |
D122G |
probably damaging |
Het |
| Or4c15b |
A |
G |
2: 89,113,441 (GRCm39) |
F33S |
possibly damaging |
Het |
| Reg4 |
A |
T |
3: 98,132,082 (GRCm39) |
|
probably benign |
Het |
| Rnaseh2b |
A |
C |
14: 62,597,906 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,946,302 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,933,379 (GRCm39) |
M1528L |
probably benign |
Het |
| Sdr16c5 |
T |
A |
4: 4,006,609 (GRCm39) |
T228S |
probably damaging |
Het |
| Sgo2a |
T |
C |
1: 58,052,805 (GRCm39) |
C202R |
probably damaging |
Het |
| Slc25a46 |
A |
G |
18: 31,716,725 (GRCm39) |
L259P |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,345,625 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
G |
T |
9: 99,757,636 (GRCm39) |
H34Q |
probably damaging |
Het |
| Syna |
T |
A |
5: 134,587,165 (GRCm39) |
K595* |
probably null |
Het |
| Taf4 |
A |
G |
2: 179,573,807 (GRCm39) |
V687A |
probably benign |
Het |
| Tmbim7 |
C |
T |
5: 3,711,916 (GRCm39) |
H54Y |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 23,068,067 (GRCm39) |
M89V |
probably benign |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,093 (GRCm39) |
Y261C |
probably benign |
Het |
| Ywhah |
A |
G |
5: 33,184,349 (GRCm39) |
Y184C |
probably damaging |
Het |
| Zkscan16 |
C |
T |
4: 58,946,125 (GRCm39) |
|
probably benign |
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 |
|
|
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'- CCTTCATGTGGACATTGCGG -3'
(R):5'- TGTGATGATCCAGCCACTG -3'
Sequencing Primer
(F):5'- GGACATTGCGGCTCCTTG -3'
(R):5'- GATGATCCAGCCACTGCCTTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation