Incidental Mutation 'IGL03222:Xkr5'
| ID |
413687 |
| 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 # |
IGL03222
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
18982745-19000991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18987315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 117
(T117A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055503]
[ENSMUST00000095438]
[ENSMUST00000143913]
[ENSMUST00000152974]
|
| AlphaFold |
Q5GH66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055503
AA Change: T117A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061748
Gene: ENSMUSG00000039814
AA Change: T117A
| 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 damaging
Transcript: ENSMUST00000095438
AA Change: T283A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093089
Gene: ENSMUSG00000039814
AA Change: T283A
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
A |
G |
X: 126,303,093 (GRCm39) |
D344G |
probably benign |
Het |
| Aqr |
A |
T |
2: 113,951,737 (GRCm39) |
L877Q |
probably damaging |
Het |
| Ctr9 |
T |
C |
7: 110,642,257 (GRCm39) |
Y328H |
probably benign |
Het |
| Ebf2 |
A |
G |
14: 67,649,441 (GRCm39) |
|
probably null |
Het |
| Ebpl |
A |
G |
14: 61,579,682 (GRCm39) |
|
probably benign |
Het |
| Efcab5 |
A |
T |
11: 77,028,193 (GRCm39) |
D515E |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,802,950 (GRCm39) |
N1187S |
possibly damaging |
Het |
| Hmces |
A |
G |
6: 87,902,674 (GRCm39) |
R172G |
probably damaging |
Het |
| Ighv14-2 |
T |
C |
12: 113,958,114 (GRCm39) |
D109G |
possibly damaging |
Het |
| Kcnn1 |
C |
T |
8: 71,300,843 (GRCm39) |
R423H |
probably damaging |
Het |
| Muc13 |
T |
C |
16: 33,619,335 (GRCm39) |
S28P |
unknown |
Het |
| Or5p70 |
A |
T |
7: 107,994,393 (GRCm39) |
D22V |
possibly damaging |
Het |
| Or7e170 |
G |
T |
9: 19,795,495 (GRCm39) |
Y35* |
probably null |
Het |
| Polg |
T |
C |
7: 79,104,404 (GRCm39) |
T824A |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,995,302 (GRCm39) |
V782D |
probably damaging |
Het |
| Rin2 |
T |
A |
2: 145,702,115 (GRCm39) |
C270* |
probably null |
Het |
| Sdk2 |
C |
A |
11: 113,729,257 (GRCm39) |
V1107L |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,628,304 (GRCm39) |
V539E |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,488,983 (GRCm39) |
S764P |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,749,215 (GRCm39) |
Y211C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,586,083 (GRCm39) |
T21883A |
probably damaging |
Het |
| Xkr9 |
T |
A |
1: 13,771,505 (GRCm39) |
Y340* |
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 |
|
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