Mutagenetix > Incidental Mutation

Incidental Mutation 'R2341:Xkr7'

246739

Institutional Source

Beutler Lab

Gene Symbol

Xkr7

Ensembl Gene

ENSMUSG00000042631

Gene Name

X-linked Kx blood group related 7

Synonyms

MMRRC Submission

040327-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R2341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152873772-152897695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 152896318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 391 (V391M)

Ref Sequence

ENSEMBL: ENSMUSP00000049346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037235]

AlphaFold

Q5GH64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037235
AA Change: V391M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049346
Gene: ENSMUSG00000042631
AA Change: V391M

Domain	Start	End	E-Value	Type
low complexity region	2	46	N/A	INTRINSIC
low complexity region	92	107	N/A	INTRINSIC
low complexity region	170	193	N/A	INTRINSIC
IQ	196	218	1.28e1	SMART
low complexity region	260	274	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	G	15: 59,888,212 (GRCm39)	V76A	possibly damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Anapc4	T	C	5: 52,999,279 (GRCm39)		probably benign	Het
Anxa4	A	G	6: 86,720,135 (GRCm39)	S144P	probably benign	Het
Bcr	A	G	10: 74,966,944 (GRCm39)	E517G	probably damaging	Het
Ccdc57	T	C	11: 120,751,349 (GRCm39)	E907G	probably benign	Het
Chd6	TG	T	2: 160,807,679 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,750,782 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,177,757 (GRCm39)	K2031E	probably damaging	Het
Gm5444	T	C	13: 4,884,344 (GRCm39)		noncoding transcript	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Ifna16	A	G	4: 88,594,565 (GRCm39)	S177P	probably damaging	Het
Ino80d	T	C	1: 63,104,985 (GRCm39)	N364D	possibly damaging	Het
Ltbp2	T	C	12: 84,855,937 (GRCm39)	T769A	probably benign	Het
Ms4a20	T	A	19: 11,083,157 (GRCm39)	M88L	probably benign	Het
Mug1	T	C	6: 121,861,588 (GRCm39)	V1350A	probably benign	Het
Nedd9	A	G	13: 41,469,987 (GRCm39)	S389P	probably damaging	Het
Or10ag57	A	T	2: 87,218,084 (GRCm39)	I12F	probably benign	Het
Or4c11b	A	G	2: 88,624,989 (GRCm39)	N88D	probably benign	Het
Or8h8	T	C	2: 86,752,982 (GRCm39)	K298R	possibly damaging	Het
Pole	A	T	5: 110,478,829 (GRCm39)	I28F	possibly damaging	Het
Prkce	C	A	17: 86,781,870 (GRCm39)	P180T	probably damaging	Het
Ralgapa1	T	C	12: 55,723,909 (GRCm39)	H1995R	possibly damaging	Het
Rnf144b	A	G	13: 47,373,976 (GRCm39)	K58E	probably benign	Het
Rnf43	A	G	11: 87,622,851 (GRCm39)	R651G	probably damaging	Het
Scel	A	T	14: 103,845,606 (GRCm39)	L580F	possibly damaging	Het
Scn4b	G	A	9: 45,059,127 (GRCm39)	V133M	probably damaging	Het
Sipa1l3	T	C	7: 29,077,060 (GRCm39)	N904S	probably damaging	Het
Sun5	A	G	2: 153,709,422 (GRCm39)		probably benign	Het
Tanc2	T	C	11: 105,725,877 (GRCm39)	V347A	probably benign	Het
Tmem245	T	C	4: 56,937,957 (GRCm39)	Y197C	probably damaging	Het
Usp30	C	T	5: 114,249,241 (GRCm39)	R182*	probably null	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vps35	T	C	8: 86,001,443 (GRCm39)		probably benign	Het
Ythdf3	A	T	3: 16,257,379 (GRCm39)		probably benign	Het
Zfp110	T	C	7: 12,583,113 (GRCm39)	V587A	probably benign	Het

Other mutations in Xkr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02715:Xkr7	APN	2	152,896,277 (GRCm39)	missense	probably damaging	0.99
R0125:Xkr7	UTSW	2	152,874,346 (GRCm39)	missense	probably benign	0.01
R0531:Xkr7	UTSW	2	152,874,272 (GRCm39)	missense	possibly damaging	0.65
R1121:Xkr7	UTSW	2	152,896,343 (GRCm39)	missense	probably damaging	1.00
R2092:Xkr7	UTSW	2	152,895,983 (GRCm39)	missense	probably damaging	0.98
R2132:Xkr7	UTSW	2	152,894,816 (GRCm39)	missense	probably benign
R2264:Xkr7	UTSW	2	152,896,177 (GRCm39)	missense	probably damaging	1.00
R2337:Xkr7	UTSW	2	152,896,318 (GRCm39)	missense	possibly damaging	0.94
R4270:Xkr7	UTSW	2	152,896,235 (GRCm39)	missense	possibly damaging	0.80
R4513:Xkr7	UTSW	2	152,896,553 (GRCm39)	missense	probably benign	0.39
R4880:Xkr7	UTSW	2	152,896,873 (GRCm39)	missense	probably damaging	1.00
R5022:Xkr7	UTSW	2	152,896,300 (GRCm39)	missense	probably benign	0.00
R5023:Xkr7	UTSW	2	152,896,300 (GRCm39)	missense	probably benign	0.00
R5057:Xkr7	UTSW	2	152,896,300 (GRCm39)	missense	probably benign	0.00
R5198:Xkr7	UTSW	2	152,896,873 (GRCm39)	missense	probably damaging	1.00
R5433:Xkr7	UTSW	2	152,896,244 (GRCm39)	missense	probably damaging	1.00
R7385:Xkr7	UTSW	2	152,895,983 (GRCm39)	nonsense	probably null
R7940:Xkr7	UTSW	2	152,874,135 (GRCm39)	missense	probably damaging	1.00
R8334:Xkr7	UTSW	2	152,896,883 (GRCm39)	missense	probably damaging	1.00
R8938:Xkr7	UTSW	2	152,874,133 (GRCm39)	missense	probably damaging	1.00
R9600:Xkr7	UTSW	2	152,896,393 (GRCm39)	missense	probably benign	0.03
X0061:Xkr7	UTSW	2	152,896,103 (GRCm39)	missense	probably benign	0.44
Z1177:Xkr7	UTSW	2	152,896,417 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTCTACAAGCTCTACTTTGGC -3'
(R):5'- TTCAGGGAAGATGCAGCCAG -3'

Sequencing Primer
(F):5'- AAGCTCTACTTTGGCATTTTCATCG -3'
(R):5'- AAGATGCAGCCAGGTGCC -3'

Posted On

2014-10-30