Incidental Mutation 'R5019:Xkr5'
| ID |
389096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xkr5
|
| Ensembl Gene |
ENSMUSG00000039814 |
| Gene Name |
X-linked Kx blood group related 5 |
| Synonyms |
5430438H03Rik |
| MMRRC Submission |
042610-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5019 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
18982745-19000991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18992126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 88
(T88A)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000061748
Gene: ENSMUSG00000039814
| 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: T88A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000093089
Gene: ENSMUSG00000039814
AA Change: T88A
| 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
|
| Meta Mutation Damage Score |
0.0771 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
92% (35/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
A |
11: 110,056,760 (GRCm39) |
W20L |
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,711,818 (GRCm39) |
Y81* |
probably null |
Het |
| Add3 |
A |
G |
19: 53,231,002 (GRCm39) |
E559G |
probably damaging |
Het |
| Ahcyl2 |
A |
T |
6: 29,859,738 (GRCm39) |
K6M |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 31,031,415 (GRCm39) |
N345I |
possibly damaging |
Het |
| Carm1 |
T |
C |
9: 21,490,807 (GRCm39) |
|
probably null |
Het |
| Ip6k2 |
T |
A |
9: 108,674,945 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,261,772 (GRCm39) |
L649P |
probably damaging |
Het |
| Klra5 |
T |
C |
6: 129,876,352 (GRCm39) |
T152A |
probably benign |
Het |
| Mars2 |
T |
C |
1: 55,276,468 (GRCm39) |
S24P |
possibly damaging |
Het |
| Mfap2 |
A |
T |
4: 140,742,569 (GRCm39) |
T142S |
probably damaging |
Het |
| Miga1 |
A |
C |
3: 152,028,098 (GRCm39) |
S144A |
possibly damaging |
Het |
| Nalf1 |
A |
G |
8: 9,820,240 (GRCm39) |
V260A |
probably benign |
Het |
| Or2l5 |
A |
T |
16: 19,334,285 (GRCm39) |
F34I |
probably damaging |
Het |
| Or4d2b |
A |
G |
11: 87,779,801 (GRCm39) |
V307A |
probably benign |
Het |
| Pate12 |
C |
A |
9: 36,343,198 (GRCm39) |
Q7K |
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,994 (GRCm39) |
D234G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,764,381 (GRCm39) |
N4285D |
unknown |
Het |
| Pex1 |
T |
C |
5: 3,672,331 (GRCm39) |
S725P |
probably damaging |
Het |
| Pigg |
A |
G |
5: 108,480,015 (GRCm39) |
Y430C |
probably damaging |
Het |
| Plcb2 |
A |
T |
2: 118,542,617 (GRCm39) |
L818Q |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,755,965 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
T |
C |
4: 111,785,845 (GRCm39) |
V97A |
probably damaging |
Het |
| Tfap2b |
T |
C |
1: 19,296,666 (GRCm39) |
V185A |
probably benign |
Het |
| Trim27 |
T |
C |
13: 21,374,134 (GRCm39) |
F294L |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
T |
A |
5: 111,249,930 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Xkr6 |
T |
G |
14: 64,056,515 (GRCm39) |
I142S |
unknown |
Het |
| Zfp618 |
T |
C |
4: 63,021,789 (GRCm39) |
Y252H |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,148,998 (GRCm39) |
D84G |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTTCCTGTTATTGGAAGCAG -3'
(R):5'- TGGGCTCAGAGCTTAGCAAC -3'
Sequencing Primer
(F):5'- CCTGTTATTGGAAGCAGATGGTATG -3'
(R):5'- CAGCCTAACTGGTGACCCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation