Incidental Mutation 'IGL02968:Xkr5'
| ID |
365691 |
| 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 # |
IGL02968
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
18982745-19000991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18983641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 634
(S634G)
|
| 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: S468G
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000061748
Gene: ENSMUSG00000039814
AA Change: S468G
| 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: S634G
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000093089
Gene: ENSMUSG00000039814
AA Change: S634G
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
T |
6: 91,900,454 (GRCm39) |
D441V |
probably damaging |
Het |
| Abcd1 |
T |
C |
X: 72,760,664 (GRCm39) |
S10P |
possibly damaging |
Het |
| Acad12 |
T |
C |
5: 121,748,101 (GRCm39) |
S106G |
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,517,310 (GRCm39) |
T127A |
probably damaging |
Het |
| Cela3a |
A |
G |
4: 137,131,132 (GRCm39) |
V202A |
probably damaging |
Het |
| Cenpu |
T |
C |
8: 47,009,230 (GRCm39) |
|
probably null |
Het |
| Dusp9 |
T |
C |
X: 72,685,039 (GRCm39) |
S222P |
probably benign |
Het |
| Exoc5 |
A |
G |
14: 49,270,726 (GRCm39) |
|
probably null |
Het |
| Foxp1 |
G |
T |
6: 99,052,822 (GRCm39) |
A90D |
probably damaging |
Het |
| Krt12 |
G |
T |
11: 99,308,843 (GRCm39) |
A398E |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,828,364 (GRCm39) |
T183K |
possibly damaging |
Het |
| Napa |
T |
C |
7: 15,847,266 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
T |
C |
7: 5,304,024 (GRCm39) |
E167G |
possibly damaging |
Het |
| Nos2 |
T |
C |
11: 78,828,463 (GRCm39) |
Y148H |
probably damaging |
Het |
| Or2t43 |
T |
C |
11: 58,458,021 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or51aa5 |
C |
T |
7: 103,167,466 (GRCm39) |
V42M |
probably damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,451 (GRCm39) |
F163I |
possibly damaging |
Het |
| Pde7a |
G |
A |
3: 19,297,285 (GRCm39) |
R122* |
probably null |
Het |
| Pkdrej |
A |
T |
15: 85,700,382 (GRCm39) |
Y1851* |
probably null |
Het |
| Rbl1 |
C |
T |
2: 157,019,194 (GRCm39) |
R517H |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,383,947 (GRCm39) |
S661T |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,743,318 (GRCm39) |
D3886G |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,026 (GRCm39) |
Y412H |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,414,915 (GRCm39) |
S530P |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,442 (GRCm39) |
E131G |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,851 (GRCm39) |
A204E |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,249 (GRCm39) |
K413E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,849,068 (GRCm39) |
S2448P |
probably benign |
Het |
| Zic1 |
G |
A |
9: 91,244,543 (GRCm39) |
T372M |
probably damaging |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation