Incidental Mutation 'R4270:Xkr7'
| ID |
322115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xkr7
|
| Ensembl Gene |
ENSMUSG00000042631 |
| Gene Name |
X-linked Kx blood group related 7 |
| Synonyms |
|
| MMRRC Submission |
041075-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R4270 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
152873772-152897695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152896235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 363
(V363A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037235]
|
| AlphaFold |
Q5GH64 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037235
AA Change: V363A
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049346
Gene: ENSMUSG00000042631
AA Change: V363A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
193 |
N/A |
INTRINSIC |
|
IQ
|
196 |
218 |
1.28e1 |
SMART |
|
low complexity region
|
260 |
274 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
| Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
| Ctsa |
G |
T |
2: 164,677,222 (GRCm39) |
M210I |
probably benign |
Het |
| Ctsh |
A |
G |
9: 89,943,651 (GRCm39) |
H92R |
probably damaging |
Het |
| Fanca |
A |
G |
8: 123,995,533 (GRCm39) |
L117P |
probably damaging |
Het |
| Foxo1 |
A |
G |
3: 52,252,826 (GRCm39) |
T330A |
probably benign |
Het |
| Ighv1-43 |
C |
G |
12: 114,909,772 (GRCm39) |
G50A |
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
| Mxra8 |
C |
A |
4: 155,925,594 (GRCm39) |
P98Q |
probably damaging |
Het |
| Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,381,549 (GRCm39) |
L430P |
possibly damaging |
Het |
| Nubp2 |
A |
T |
17: 25,104,567 (GRCm39) |
C58S |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,278,997 (GRCm39) |
N52D |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
| Rbms3 |
T |
A |
9: 116,885,816 (GRCm39) |
N94I |
probably damaging |
Het |
| Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,952,550 (GRCm39) |
D147G |
probably damaging |
Het |
| Slc30a5 |
T |
G |
13: 100,965,521 (GRCm39) |
R29S |
probably benign |
Het |
| Syt10 |
C |
A |
15: 89,675,095 (GRCm39) |
R417L |
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,093 (GRCm39) |
V351A |
probably damaging |
Het |
| Trpc3 |
G |
T |
3: 36,717,074 (GRCm39) |
Y321* |
probably null |
Het |
| Vmn2r107 |
G |
T |
17: 20,576,041 (GRCm39) |
V124F |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,689,954 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Xkr7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02715:Xkr7
|
APN |
2 |
152,896,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0125:Xkr7
|
UTSW |
2 |
152,874,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0531:Xkr7
|
UTSW |
2 |
152,874,272 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1121:Xkr7
|
UTSW |
2 |
152,896,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2092:Xkr7
|
UTSW |
2 |
152,895,983 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2132:Xkr7
|
UTSW |
2 |
152,894,816 (GRCm39) |
missense |
probably benign |
|
|
R2264:Xkr7
|
UTSW |
2 |
152,896,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2337:Xkr7
|
UTSW |
2 |
152,896,318 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2341:Xkr7
|
UTSW |
2 |
152,896,318 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4513:Xkr7
|
UTSW |
2 |
152,896,553 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4880:Xkr7
|
UTSW |
2 |
152,896,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Xkr7
|
UTSW |
2 |
152,896,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5023:Xkr7
|
UTSW |
2 |
152,896,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5057:Xkr7
|
UTSW |
2 |
152,896,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5198:Xkr7
|
UTSW |
2 |
152,896,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5433:Xkr7
|
UTSW |
2 |
152,896,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7385:Xkr7
|
UTSW |
2 |
152,895,983 (GRCm39) |
nonsense |
probably null |
|
|
R7940:Xkr7
|
UTSW |
2 |
152,874,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Xkr7
|
UTSW |
2 |
152,896,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8938:Xkr7
|
UTSW |
2 |
152,874,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9600:Xkr7
|
UTSW |
2 |
152,896,393 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0061:Xkr7
|
UTSW |
2 |
152,896,103 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1177:Xkr7
|
UTSW |
2 |
152,896,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAAGAGATGACAAGCGGC -3'
(R):5'- CACATGAAGAATATGCCCAAGG -3'
Sequencing Primer
(F):5'- CTACAAGGGTGCTGTTGTCCAAG -3'
(R):5'- TGGAGGCTACCACGCAGAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation