Incidental Mutation 'IGL02983:Xkr5'
| ID |
406614 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xkr5
|
| Ensembl Gene |
ENSMUSG00000039814 |
| Gene Name |
X-linked Kx blood group related 5 |
| Synonyms |
5430438H03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
18982745-19000991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18983848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 565
(I565V)
|
| 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: I399V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061748
Gene: ENSMUSG00000039814
AA Change: I399V
| 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: I565V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093089
Gene: ENSMUSG00000039814
AA Change: I565V
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,240,663 (GRCm39) |
N842S |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,029,950 (GRCm39) |
I565V |
probably benign |
Het |
| Camta2 |
C |
T |
11: 70,562,848 (GRCm39) |
R959Q |
probably damaging |
Het |
| Cbln2 |
A |
G |
18: 86,731,504 (GRCm39) |
E104G |
probably benign |
Het |
| Cdc42ep4 |
T |
C |
11: 113,619,995 (GRCm39) |
K132R |
probably benign |
Het |
| Clcnka |
T |
A |
4: 141,117,442 (GRCm39) |
I452F |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,526 (GRCm39) |
|
probably null |
Het |
| Crat |
A |
C |
2: 30,294,538 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
A |
G |
1: 10,197,750 (GRCm39) |
K227R |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,273,863 (GRCm39) |
I588N |
probably damaging |
Het |
| Dip2b |
G |
T |
15: 100,029,903 (GRCm39) |
R98L |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,002,119 (GRCm39) |
P1617L |
probably damaging |
Het |
| Fa2h |
C |
T |
8: 112,073,154 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,247,871 (GRCm39) |
N68I |
probably damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,227 (GRCm39) |
L17F |
probably benign |
Het |
| Gm17078 |
T |
C |
14: 51,848,647 (GRCm39) |
K30R |
probably benign |
Het |
| Gramd4 |
G |
A |
15: 86,011,219 (GRCm39) |
V249M |
probably damaging |
Het |
| Kcnd2 |
A |
C |
6: 21,216,554 (GRCm39) |
D86A |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,386,068 (GRCm39) |
E3486G |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,413,646 (GRCm39) |
D50G |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,186,997 (GRCm39) |
Y167* |
probably null |
Het |
| Nat14 |
G |
A |
7: 4,927,127 (GRCm39) |
A100T |
probably damaging |
Het |
| Nscme3l |
A |
G |
19: 5,553,209 (GRCm39) |
F191L |
possibly damaging |
Het |
| Nxph2 |
T |
C |
2: 23,290,374 (GRCm39) |
V242A |
probably damaging |
Het |
| Or1j10 |
T |
A |
2: 36,267,649 (GRCm39) |
I287N |
probably damaging |
Het |
| Or1x2 |
T |
C |
11: 50,918,207 (GRCm39) |
V126A |
probably damaging |
Het |
| Or2a55-ps1 |
T |
C |
6: 43,071,582 (GRCm39) |
|
noncoding transcript |
Het |
| Or6c219 |
T |
A |
10: 129,781,058 (GRCm39) |
N291I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,099,697 (GRCm39) |
E356G |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,497,040 (GRCm39) |
L358S |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,847,876 (GRCm39) |
T4A |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,851,508 (GRCm39) |
S207P |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,222,976 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,177,142 (GRCm39) |
T642A |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,678,725 (GRCm39) |
M277K |
possibly damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,741 (GRCm39) |
D45G |
probably damaging |
Het |
| Zfp526 |
C |
T |
7: 24,923,840 (GRCm39) |
A33V |
probably benign |
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 |
|
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 |
|
R6615:Xkr5
|
UTSW |
8 |
18,983,569 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation