Incidental Mutation 'R4742:Xkr5'
ID |
358136 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xkr5
|
Ensembl Gene |
ENSMUSG00000039814 |
Gene Name |
X-linked Kx blood group related 5 |
Synonyms |
5430438H03Rik |
MMRRC Submission |
041966-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4742 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
18982745-19000991 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to T
at 18998746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Lysine
at position 55
(*55K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119436
(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 |
possibly damaging
Transcript: ENSMUST00000095438
AA Change: I24K
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000093089 Gene: ENSMUSG00000039814 AA Change: I24K
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 damaging
Transcript: ENSMUST00000143913
AA Change: I24K
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121958 Gene: ENSMUSG00000039814 AA Change: I24K
Domain | Start | End | E-Value | Type |
Pfam:XK-related
|
2 |
109 |
2.8e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144987
|
Predicted Effect |
probably null
Transcript: ENSMUST00000152974
AA Change: *55K
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
94% (51/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
8030423J24Rik |
G |
T |
13: 71,031,644 (GRCm39) |
R17L |
unknown |
Het |
Acan |
T |
C |
7: 78,750,517 (GRCm39) |
F1763L |
probably benign |
Het |
Adgrb1 |
T |
A |
15: 74,401,328 (GRCm39) |
L108* |
probably null |
Het |
Anapc2 |
T |
A |
2: 25,163,555 (GRCm39) |
|
probably null |
Het |
Apbb1ip |
A |
G |
2: 22,716,928 (GRCm39) |
K177E |
unknown |
Het |
Azgp1 |
T |
A |
5: 137,987,888 (GRCm39) |
Y223* |
probably null |
Het |
Cfap44 |
T |
G |
16: 44,269,615 (GRCm39) |
|
probably null |
Het |
Chfr |
C |
T |
5: 110,291,464 (GRCm39) |
T94I |
probably benign |
Het |
Chrna10 |
T |
G |
7: 101,762,344 (GRCm39) |
Q282P |
probably damaging |
Het |
Col9a3 |
G |
T |
2: 180,245,180 (GRCm39) |
G130W |
unknown |
Het |
Dcaf1 |
A |
G |
9: 106,735,754 (GRCm39) |
T901A |
probably benign |
Het |
Dock2 |
T |
G |
11: 34,244,170 (GRCm39) |
|
probably null |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Fdxacb1 |
A |
G |
9: 50,679,968 (GRCm39) |
|
probably benign |
Het |
Fhip1b |
A |
G |
7: 105,033,518 (GRCm39) |
V566A |
probably damaging |
Het |
Il31ra |
G |
T |
13: 112,660,501 (GRCm39) |
S615* |
probably null |
Het |
Itgam |
C |
T |
7: 127,712,245 (GRCm39) |
S827F |
probably damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,847,299 (GRCm39) |
V512E |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
Nab2 |
T |
C |
10: 127,498,696 (GRCm39) |
T458A |
probably benign |
Het |
Nadsyn1 |
A |
G |
7: 143,352,367 (GRCm39) |
|
probably benign |
Het |
Nek10 |
A |
G |
14: 14,861,624 (GRCm38) |
D560G |
probably null |
Het |
Or2ag13 |
A |
T |
7: 106,472,635 (GRCm39) |
N272K |
probably damaging |
Het |
Or2ak6 |
A |
G |
11: 58,592,685 (GRCm39) |
R53G |
probably benign |
Het |
Or8b46 |
T |
C |
9: 38,450,952 (GRCm39) |
S254P |
probably damaging |
Het |
Pou1f1 |
C |
A |
16: 65,320,367 (GRCm39) |
P19T |
probably benign |
Het |
Prdm9 |
A |
T |
17: 15,773,783 (GRCm39) |
D329E |
probably damaging |
Het |
Prkn |
T |
A |
17: 11,456,591 (GRCm39) |
|
probably null |
Het |
Ptprm |
A |
C |
17: 67,051,746 (GRCm39) |
Y962* |
probably null |
Het |
Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Rtkn2 |
A |
G |
10: 67,839,144 (GRCm39) |
T154A |
possibly damaging |
Het |
Slitrk3 |
T |
C |
3: 72,955,898 (GRCm39) |
D958G |
probably benign |
Het |
Spata31d1b |
C |
A |
13: 59,864,426 (GRCm39) |
H525N |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,227,697 (GRCm39) |
R1461G |
probably benign |
Het |
Tas2r105 |
G |
A |
6: 131,663,814 (GRCm39) |
H205Y |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,446,691 (GRCm39) |
N809D |
probably damaging |
Het |
Thoc2l |
A |
T |
5: 104,666,723 (GRCm39) |
N415I |
probably benign |
Het |
Tns1 |
A |
G |
1: 74,163,449 (GRCm39) |
|
probably null |
Het |
Top1 |
A |
G |
2: 160,545,490 (GRCm39) |
|
probably null |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Txndc9 |
T |
C |
1: 38,026,765 (GRCm39) |
D135G |
possibly damaging |
Het |
Usp3 |
A |
G |
9: 66,427,959 (GRCm39) |
Y339H |
probably damaging |
Het |
Vmn1r5 |
A |
T |
6: 56,963,236 (GRCm39) |
K304* |
probably null |
Het |
Vmn2r92 |
A |
G |
17: 18,387,119 (GRCm39) |
T153A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCACTGTATCAGAGGGAAGG -3'
(R):5'- GAGACCTGGGTTCCTTTGAG -3'
Sequencing Primer
(F):5'- AGGTGGGCGCTCTTACC -3'
(R):5'- ACAGATAGGTCCCTAGTCACTTGG -3'
|
Posted On |
2015-11-11 |