Incidental Mutation 'R6615:Xkr5'
ID |
523953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xkr5
|
Ensembl Gene |
ENSMUSG00000039814 |
Gene Name |
X-linked Kx blood group related 5 |
Synonyms |
5430438H03Rik |
MMRRC Submission |
044738-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6615 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
18982745-19000991 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18983569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 658
(I658V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055503]
[ENSMUST00000095438]
[ENSMUST00000143913]
[ENSMUST00000152974]
|
AlphaFold |
Q5GH66 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055503
AA Change: I492V
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000061748 Gene: ENSMUSG00000039814 AA Change: I492V
Domain | Start | End | E-Value | Type |
Pfam:XK-related
|
1 |
155 |
1.4e-46 |
PFAM |
low complexity region
|
240 |
247 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095438
AA Change: I658V
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000093089 Gene: ENSMUSG00000039814 AA Change: I658V
Domain | Start | End | E-Value | Type |
Pfam:XK-related
|
5 |
321 |
1.6e-87 |
PFAM |
low complexity region
|
406 |
413 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143913
|
SMART Domains |
Protein: ENSMUSP00000121958 Gene: ENSMUSG00000039814
Domain | Start | End | E-Value | Type |
Pfam:XK-related
|
2 |
109 |
2.8e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144987
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152974
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157795
|
Meta Mutation Damage Score |
0.0710 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Avl9 |
T |
C |
6: 56,730,870 (GRCm39) |
V598A |
probably benign |
Het |
Bcar3 |
T |
A |
3: 122,220,282 (GRCm39) |
S60T |
probably benign |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Homo |
Calm3 |
A |
G |
7: 16,651,508 (GRCm39) |
|
probably null |
Het |
Ccdc113 |
A |
C |
8: 96,272,620 (GRCm39) |
E242D |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,786,315 (GRCm39) |
|
probably null |
Het |
Clhc1 |
T |
A |
11: 29,528,149 (GRCm39) |
M559K |
possibly damaging |
Het |
Dhx36 |
T |
A |
3: 62,396,338 (GRCm39) |
I440L |
probably benign |
Het |
Dnah7c |
A |
T |
1: 46,554,599 (GRCm39) |
T445S |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dsc2 |
T |
A |
18: 20,165,576 (GRCm39) |
H843L |
possibly damaging |
Het |
F11 |
T |
C |
8: 45,701,811 (GRCm39) |
Y333C |
probably benign |
Het |
Fbxo41 |
T |
C |
6: 85,455,505 (GRCm39) |
T560A |
possibly damaging |
Het |
Fbxo7 |
A |
T |
10: 85,880,398 (GRCm39) |
H282L |
possibly damaging |
Het |
Gmnc |
T |
G |
16: 26,779,278 (GRCm39) |
D243A |
probably benign |
Het |
Hdac5 |
C |
A |
11: 102,087,882 (GRCm39) |
|
probably null |
Het |
Krt87 |
A |
G |
15: 101,334,443 (GRCm39) |
V188A |
probably benign |
Het |
Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
Lrrk1 |
A |
T |
7: 65,931,396 (GRCm39) |
L55Q |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,860,091 (GRCm39) |
C621Y |
probably damaging |
Het |
Marchf8 |
A |
G |
6: 116,382,624 (GRCm39) |
E147G |
probably damaging |
Het |
Muc16 |
T |
G |
9: 18,558,484 (GRCm39) |
H2603P |
unknown |
Het |
Nipa1 |
T |
A |
7: 55,629,571 (GRCm39) |
N181Y |
probably damaging |
Het |
Nt5el |
T |
A |
13: 105,248,993 (GRCm39) |
N402K |
probably damaging |
Het |
Or14c45 |
A |
G |
7: 86,176,120 (GRCm39) |
T52A |
probably benign |
Het |
Or2h2c |
G |
A |
17: 37,422,494 (GRCm39) |
P127S |
probably damaging |
Het |
Or4k37 |
A |
G |
2: 111,159,457 (GRCm39) |
D231G |
probably benign |
Het |
Or51f23c-ps1 |
T |
C |
7: 102,430,994 (GRCm39) |
F104L |
probably damaging |
Het |
Or7g35 |
A |
G |
9: 19,496,285 (GRCm39) |
I151V |
probably benign |
Het |
Pcf11 |
T |
A |
7: 92,307,090 (GRCm39) |
Q1026L |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,687,644 (GRCm39) |
K378T |
possibly damaging |
Het |
Ptprm |
C |
T |
17: 67,660,951 (GRCm39) |
|
probably null |
Het |
Pxmp2 |
C |
A |
5: 110,425,573 (GRCm39) |
W154L |
possibly damaging |
Het |
Rdh7 |
T |
G |
10: 127,720,491 (GRCm39) |
S294R |
probably damaging |
Het |
Rexo1 |
C |
T |
10: 80,379,848 (GRCm39) |
R994Q |
possibly damaging |
Het |
Sacs |
A |
G |
14: 61,446,383 (GRCm39) |
T2810A |
probably benign |
Het |
Serpina3c |
A |
T |
12: 104,117,980 (GRCm39) |
H119Q |
possibly damaging |
Het |
Slc12a2 |
T |
G |
18: 58,031,200 (GRCm39) |
I335R |
probably damaging |
Het |
Slc25a13 |
C |
T |
6: 6,073,454 (GRCm39) |
R468Q |
probably damaging |
Het |
Slc5a6 |
C |
T |
5: 31,194,174 (GRCm39) |
V628I |
probably benign |
Het |
Srsf2 |
T |
C |
11: 116,743,905 (GRCm39) |
|
probably null |
Het |
Sugp2 |
A |
G |
8: 70,695,420 (GRCm39) |
Q131R |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,251,340 (GRCm39) |
R2525G |
probably damaging |
Het |
Tars3 |
T |
C |
7: 65,327,890 (GRCm39) |
F533S |
probably damaging |
Het |
Tmem8b |
G |
T |
4: 43,682,249 (GRCm39) |
G82W |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,837,890 (GRCm39) |
I987T |
possibly damaging |
Het |
Usp44 |
T |
C |
10: 93,682,351 (GRCm39) |
V267A |
possibly damaging |
Het |
Wac |
C |
A |
18: 7,868,884 (GRCm39) |
|
probably null |
Het |
Zbtb38 |
A |
T |
9: 96,568,707 (GRCm39) |
Y792* |
probably null |
Het |
|
Other mutations in Xkr5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01505:Xkr5
|
APN |
8 |
18,983,514 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02153:Xkr5
|
APN |
8 |
18,983,683 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02637:Xkr5
|
APN |
8 |
18,984,099 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02968:Xkr5
|
APN |
8 |
18,983,641 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02983:Xkr5
|
APN |
8 |
18,983,848 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03222:Xkr5
|
APN |
8 |
18,987,315 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4431001:Xkr5
|
UTSW |
8 |
18,984,361 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0336:Xkr5
|
UTSW |
8 |
18,990,652 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0638:Xkr5
|
UTSW |
8 |
18,983,563 (GRCm39) |
missense |
probably benign |
0.00 |
R1644:Xkr5
|
UTSW |
8 |
18,984,141 (GRCm39) |
missense |
probably benign |
0.03 |
R1703:Xkr5
|
UTSW |
8 |
18,989,134 (GRCm39) |
missense |
probably benign |
0.15 |
R1777:Xkr5
|
UTSW |
8 |
18,989,148 (GRCm39) |
missense |
probably benign |
0.33 |
R1972:Xkr5
|
UTSW |
8 |
18,991,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R3715:Xkr5
|
UTSW |
8 |
18,984,474 (GRCm39) |
missense |
probably benign |
0.03 |
R4274:Xkr5
|
UTSW |
8 |
18,984,183 (GRCm39) |
missense |
probably benign |
0.00 |
R4603:Xkr5
|
UTSW |
8 |
18,983,733 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4742:Xkr5
|
UTSW |
8 |
18,998,746 (GRCm39) |
makesense |
probably null |
|
R5019:Xkr5
|
UTSW |
8 |
18,992,126 (GRCm39) |
missense |
probably benign |
0.00 |
R5103:Xkr5
|
UTSW |
8 |
18,983,659 (GRCm39) |
missense |
probably benign |
0.00 |
R5331:Xkr5
|
UTSW |
8 |
18,983,484 (GRCm39) |
utr 3 prime |
probably benign |
|
R5649:Xkr5
|
UTSW |
8 |
18,983,982 (GRCm39) |
missense |
probably benign |
0.00 |
R5883:Xkr5
|
UTSW |
8 |
18,990,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R6005:Xkr5
|
UTSW |
8 |
18,984,521 (GRCm39) |
missense |
probably benign |
0.00 |
R6393:Xkr5
|
UTSW |
8 |
18,998,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R7488:Xkr5
|
UTSW |
8 |
18,983,608 (GRCm39) |
nonsense |
probably null |
|
R8011:Xkr5
|
UTSW |
8 |
18,998,736 (GRCm39) |
nonsense |
probably null |
|
R8678:Xkr5
|
UTSW |
8 |
18,984,048 (GRCm39) |
missense |
probably benign |
0.01 |
R8928:Xkr5
|
UTSW |
8 |
18,983,787 (GRCm39) |
missense |
probably benign |
0.01 |
R9572:Xkr5
|
UTSW |
8 |
18,984,166 (GRCm39) |
missense |
probably benign |
0.41 |
R9579:Xkr5
|
UTSW |
8 |
18,983,785 (GRCm39) |
missense |
probably benign |
0.02 |
R9622:Xkr5
|
UTSW |
8 |
18,984,247 (GRCm39) |
missense |
probably benign |
0.02 |
R9762:Xkr5
|
UTSW |
8 |
18,990,749 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Xkr5
|
UTSW |
8 |
18,990,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTGGGGTTAGACATCATCC -3'
(R):5'- TTCCAGGTAGAAACTTCCGCC -3'
Sequencing Primer
(F):5'- GTGGGGTTAGACATCATCCAATCC -3'
(R):5'- GTAGAAACTTCCGCCCCAGTG -3'
|
Posted On |
2018-06-22 |