Incidental Mutation 'R9579:Xkr5'
| ID |
722459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xkr5
|
| Ensembl Gene |
ENSMUSG00000039814 |
| Gene Name |
X-linked Kx blood group related 5 |
| Synonyms |
5430438H03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9579 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
18982745-19000991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18983785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 586
(T586A)
|
| 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: T420A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000061748
Gene: ENSMUSG00000039814
AA Change: T420A
| 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: T586A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000093089
Gene: ENSMUSG00000039814
AA Change: T586A
| 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 |
probably benign
Transcript: ENSMUST00000152974
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
C |
A |
11: 46,009,262 (GRCm39) |
H229N |
probably benign |
Het |
| Ak9 |
C |
A |
10: 41,213,576 (GRCm39) |
H260Q |
|
Het |
| Akap3 |
G |
A |
6: 126,850,974 (GRCm39) |
V831I |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,853,843 (GRCm39) |
F119S |
probably benign |
Het |
| Best3 |
A |
G |
10: 116,829,100 (GRCm39) |
T127A |
probably damaging |
Het |
| Ccdc7a |
G |
A |
8: 129,774,134 (GRCm39) |
Q134* |
probably null |
Het |
| Ceacam5 |
C |
A |
7: 17,479,561 (GRCm39) |
S226Y |
probably damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Cul4a |
G |
A |
8: 13,186,147 (GRCm39) |
E450K |
probably damaging |
Het |
| Cyb5a |
A |
T |
18: 84,891,273 (GRCm39) |
R89S |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,368,041 (GRCm39) |
L1766P |
probably damaging |
Het |
| Gbp4 |
T |
C |
5: 105,270,947 (GRCm39) |
E228G |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,349,612 (GRCm39) |
I522T |
probably benign |
Het |
| Gm5225 |
A |
C |
17: 24,242,897 (GRCm39) |
H22P |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,758,500 (GRCm39) |
C796S |
probably damaging |
Het |
| Hmgxb4 |
G |
T |
8: 75,756,638 (GRCm39) |
A588S |
probably damaging |
Het |
| Lats2 |
G |
A |
14: 57,937,191 (GRCm39) |
P433S |
probably damaging |
Het |
| Lrfn1 |
C |
T |
7: 28,166,769 (GRCm39) |
T721I |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,012,379 (GRCm39) |
S23T |
probably benign |
Het |
| Mpzl3 |
G |
A |
9: 44,973,350 (GRCm39) |
V30I |
probably benign |
Het |
| Or2r3 |
A |
T |
6: 42,448,574 (GRCm39) |
C179* |
probably null |
Het |
| Pcdh15 |
A |
G |
10: 74,457,117 (GRCm39) |
Y1298C |
possibly damaging |
Het |
| Plcd4 |
C |
A |
1: 74,596,948 (GRCm39) |
H397N |
probably benign |
Het |
| Pnn |
G |
A |
12: 59,117,030 (GRCm39) |
A201T |
possibly damaging |
Het |
| Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
| Rabl3 |
T |
C |
16: 37,362,230 (GRCm39) |
V23A |
probably damaging |
Het |
| Rnf157 |
T |
C |
11: 116,240,822 (GRCm39) |
N423S |
probably benign |
Het |
| Rtn1 |
T |
C |
12: 72,270,289 (GRCm39) |
D601G |
probably damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,557,946 (GRCm39) |
Y511H |
probably damaging |
Het |
| Sema5b |
T |
C |
16: 35,467,582 (GRCm39) |
M282T |
probably benign |
Het |
| Slco5a1 |
G |
T |
1: 12,949,383 (GRCm39) |
S669* |
probably null |
Het |
| Sphkap |
C |
G |
1: 83,255,295 (GRCm39) |
G818A |
probably damaging |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
T |
C |
12: 104,942,107 (GRCm39) |
S12G |
probably damaging |
Het |
| Tmem150a |
C |
A |
6: 72,334,070 (GRCm39) |
Q51K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,550,196 (GRCm39) |
D31662N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,578,602 (GRCm39) |
G24097D |
probably damaging |
Het |
| Tubb4b |
T |
C |
2: 25,114,139 (GRCm39) |
T55A |
probably benign |
Het |
| Vcan |
A |
T |
13: 89,837,713 (GRCm39) |
D2610E |
possibly damaging |
Het |
| Zfp260 |
T |
C |
7: 29,805,108 (GRCm39) |
F336S |
|
Het |
| Zic1 |
A |
G |
9: 91,246,790 (GRCm39) |
F94S |
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 |
|
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 |
|
|
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 |
|
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'- TAGATGTGAAGCAGGGCTCTTC -3'
(R):5'- TACCCAGGAGGACAGTCCAAAG -3'
Sequencing Primer
(F):5'- TGAAGCAGGGCTCTTCAGCTG -3'
(R):5'- ACAGTCCAAAGCTGGCTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation