Incidental Mutation 'IGL03398:Xkr4'
| ID |
421319 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xkr4
|
| Ensembl Gene |
ENSMUSG00000051951 |
| Gene Name |
X-linked Kx blood group related 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03398
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
3276124-3741721 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3286798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 464
(E464G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070533]
|
| AlphaFold |
Q5GH67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070533
AA Change: E464G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: E464G
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,039,566 (GRCm39) |
I248L |
probably benign |
Het |
| Ackr2 |
C |
T |
9: 121,737,654 (GRCm39) |
L10F |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,789,890 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
A |
G |
12: 52,564,094 (GRCm39) |
E355G |
probably damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,889,522 (GRCm39) |
V1031A |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,914,527 (GRCm39) |
V1719E |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,461,539 (GRCm39) |
N1284D |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,779,164 (GRCm39) |
D549G |
probably benign |
Het |
| Dhx32 |
A |
G |
7: 133,361,254 (GRCm39) |
Y60H |
probably damaging |
Het |
| Elapor1 |
A |
T |
3: 108,368,537 (GRCm39) |
V818D |
possibly damaging |
Het |
| Fcamr |
A |
G |
1: 130,730,985 (GRCm39) |
I79M |
probably damaging |
Het |
| Filip1 |
A |
G |
9: 79,726,225 (GRCm39) |
V798A |
probably benign |
Het |
| Ifi208 |
A |
C |
1: 173,510,817 (GRCm39) |
N324T |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nsl1 |
T |
C |
1: 190,814,361 (GRCm39) |
|
probably benign |
Het |
| Parp6 |
T |
C |
9: 59,548,336 (GRCm39) |
I483T |
probably damaging |
Het |
| Ppp2r5e |
A |
C |
12: 75,509,179 (GRCm39) |
W367G |
possibly damaging |
Het |
| Pramel31 |
A |
G |
4: 144,090,061 (GRCm39) |
D367G |
probably damaging |
Het |
| Serpini2 |
G |
A |
3: 75,166,852 (GRCm39) |
T135I |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,403,182 (GRCm39) |
N955I |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,370 (GRCm39) |
Y2055H |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,459,098 (GRCm39) |
N111D |
probably damaging |
Het |
| Ttc5 |
T |
C |
14: 51,018,964 (GRCm39) |
E51G |
possibly damaging |
Het |
| Usp47 |
A |
T |
7: 111,673,710 (GRCm39) |
E334V |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,769,247 (GRCm39) |
K2227E |
probably benign |
Het |
|
| Other mutations in Xkr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation