Mutagenetix > Incidental Mutations

Incidental Mutation 'R5649:Xkr5'

441324

Institutional Source

Beutler Lab

Gene Symbol

Xkr5

Ensembl Gene

ENSMUSG00000039814

Gene Name

X-linked Kx blood group related 5

Synonyms

MMRRC Submission

043170-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18932729-18950975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18933966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 520 (D520G)

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: D354G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061748
Gene: ENSMUSG00000039814
AA Change: D354G

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: D520G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093089
Gene: ENSMUSG00000039814
AA Change: D520G

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

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,972	E33G	probably benign	Het
Abca12	T	C	1: 71,291,342	T1385A	probably damaging	Het
Apc2	T	A	10: 80,314,138	D1646E	probably damaging	Het
Aspm	G	A	1: 139,479,669	R2098H	probably benign	Het
Atl3	C	A	19: 7,532,227	T435N	possibly damaging	Het
Cdh22	G	T	2: 165,116,280	T589K	probably damaging	Het
Cnot3	T	C	7: 3,658,083	L561S	probably benign	Het
Col5a1	A	G	2: 27,951,456	D363G	unknown	Het
Cyp24a1	T	C	2: 170,496,309	D105G	possibly damaging	Het
Dennd4a	C	A	9: 64,851,209		probably null	Het
Dnah8	A	G	17: 30,800,587	K3878R	probably benign	Het
Dock4	T	C	12: 40,844,540	S1900P	probably benign	Het
Fancg	A	G	4: 43,008,736	L167P	probably damaging	Het
Ighd2-8	A	G	12: 113,450,867	S1P	possibly damaging	Het
Kif28	A	G	1: 179,697,771		probably null	Het
Mrpl55	T	A	11: 59,204,571	C20*	probably null	Het
Myo5a	A	G	9: 75,171,719	K920E	possibly damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Olfm3	A	G	3: 115,096,924	R76G	probably damaging	Het
Olfr304	T	C	7: 86,386,313	M116V	probably damaging	Het
Olfr705	T	C	7: 106,714,166	R172G	possibly damaging	Het
Pcdha12	A	T	18: 37,022,415	D729V	probably benign	Het
Phf11c	T	C	14: 59,385,532		probably null	Het
Phf20	T	A	2: 156,251,768		probably null	Het
Plbd1	T	A	6: 136,616,989	Y376F	probably benign	Het
Poglut1	A	G	16: 38,531,811	V257A	probably damaging	Het
Reln	A	G	5: 21,901,625	I3249T	probably benign	Het
Rgsl1	G	A	1: 153,825,893	P272S	possibly damaging	Het
Slc15a2	A	T	16: 36,772,110	Y197*	probably null	Het
Slc45a2	C	T	15: 11,012,607	T232I	probably benign	Het
Ssc5d	T	A	7: 4,926,518		probably null	Het
Thbs2	T	C	17: 14,689,953	Y128C	probably damaging	Het
Them4	A	T	3: 94,331,544	L219F	possibly damaging	Het
Tmem30b	G	T	12: 73,546,166	N58K	probably benign	Het
Ttc29	G	A	8: 78,246,313	E131K	possibly damaging	Het
Vmn1r29	C	G	6: 58,307,691	S132C	probably benign	Het
Vmn1r53	G	A	6: 90,223,760	A194V	probably benign	Het
Wdr86	A	T	5: 24,718,087	H202Q	probably benign	Het
Xirp2	A	G	2: 67,516,895	D3160G	probably benign	Het
Zfp607b	T	G	7: 27,703,981	C621G	probably damaging	Het

Other mutations in Xkr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Xkr5	APN	8	18933498	missense	probably damaging	1.00
IGL02153:Xkr5	APN	8	18933667	missense	probably benign	0.09
IGL02637:Xkr5	APN	8	18934083	missense	probably benign	0.00
IGL02968:Xkr5	APN	8	18933625	missense	probably benign	0.13
IGL02983:Xkr5	APN	8	18933832	missense	probably benign	0.00
IGL03222:Xkr5	APN	8	18937299	missense	probably damaging	0.98
PIT4431001:Xkr5	UTSW	8	18934345	missense	possibly damaging	0.67
R0336:Xkr5	UTSW	8	18940636	missense	possibly damaging	0.93
R0638:Xkr5	UTSW	8	18933547	missense	probably benign	0.00
R1644:Xkr5	UTSW	8	18934125	missense	probably benign	0.03
R1703:Xkr5	UTSW	8	18939118	missense	probably benign	0.15
R1777:Xkr5	UTSW	8	18939132	missense	probably benign	0.33
R1972:Xkr5	UTSW	8	18941981	missense	probably damaging	1.00
R3715:Xkr5	UTSW	8	18934458	missense	probably benign	0.03
R4274:Xkr5	UTSW	8	18934167	missense	probably benign	0.00
R4603:Xkr5	UTSW	8	18933717	missense	possibly damaging	0.70
R4742:Xkr5	UTSW	8	18948730	makesense	probably null
R5019:Xkr5	UTSW	8	18942110	missense	probably benign	0.00
R5103:Xkr5	UTSW	8	18933643	missense	probably benign	0.00
R5331:Xkr5	UTSW	8	18933468	utr 3 prime	probably benign
R5883:Xkr5	UTSW	8	18940790	missense	probably damaging	1.00
R6005:Xkr5	UTSW	8	18934505	missense	probably benign	0.00
R6393:Xkr5	UTSW	8	18948700	missense	probably damaging	1.00
R6615:Xkr5	UTSW	8	18933553	missense	probably benign	0.05
R7488:Xkr5	UTSW	8	18933592	nonsense	probably null
R8011:Xkr5	UTSW	8	18948720	nonsense	probably null
R8678:Xkr5	UTSW	8	18934032	missense	probably benign	0.01
R8928:Xkr5	UTSW	8	18933771	missense	probably benign	0.01
Z1177:Xkr5	UTSW	8	18940785	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATTGGCCACGGTAACAGG -3'
(R):5'- TGTGACCCTTTGACCTTGGAG -3'

Sequencing Primer
(F):5'- AAAGGGCTTAGTGACTGCCTG -3'
(R):5'- CTTGGAGAAAGGGTCTGAGTAC -3'

Posted On

2016-11-08