Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01419:Xkr6'

80308

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xkr6

Ensembl Gene

ENSMUSG00000035067

Gene Name

X-linked Kx blood group related 6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL01419

Quality Score

Status

Chromosome

Chromosomal Location

63843952-64058258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64056325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 79 (Y79H)

Ref Sequence

ENSEMBL: ENSMUSP00000112691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119973] [ENSMUST00000120820]

AlphaFold

E9Q6C8

Predicted Effect

probably benign
Transcript: ENSMUST00000119973
AA Change: Y335H

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113708
Gene: ENSMUSG00000035067
AA Change: Y335H

Domain	Start	End	E-Value	Type
low complexity region	25	51	N/A	INTRINSIC
Pfam:XK-related	127	498	1.1e-125	PFAM
low complexity region	627	638	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120820
AA Change: Y79H

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112691
Gene: ENSMUSG00000035067
AA Change: Y79H

Domain	Start	End	E-Value	Type
Pfam:XK-related	1	242	4.9e-105	PFAM
low complexity region	371	382	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	T	2: 25,327,526 (GRCm39)	T672S	probably damaging	Het
Adamts14	A	T	10: 61,041,321 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,705,277 (GRCm39)	E791G	probably damaging	Het
Alkbh8	A	G	9: 3,385,354 (GRCm39)	R584G	probably damaging	Het
Apob	A	T	12: 8,052,251 (GRCm39)	I1218F	probably damaging	Het
Atp5f1a	T	C	18: 77,865,233 (GRCm39)	S52P	probably damaging	Het
B4galnt3	A	G	6: 120,192,351 (GRCm39)	S462P	possibly damaging	Het
Bdkrb1	A	G	12: 105,571,040 (GRCm39)	H202R	possibly damaging	Het
Bltp1	T	C	3: 37,102,270 (GRCm39)	S1323P	probably damaging	Het
Cd300lf	T	C	11: 115,017,180 (GRCm39)	K48E	probably benign	Het
Cfhr4	T	C	1: 139,667,382 (GRCm39)		probably null	Het
Chuk	A	T	19: 44,085,420 (GRCm39)	I242K	probably damaging	Het
Csde1	A	G	3: 102,946,086 (GRCm39)	T27A	probably damaging	Het
D930048N14Rik	C	T	11: 51,545,603 (GRCm39)		probably benign	Het
Depdc7	A	T	2: 104,552,455 (GRCm39)	Y451N	possibly damaging	Het
Diaph3	C	A	14: 87,202,989 (GRCm39)	G623*	probably null	Het
Dlc1	T	C	8: 37,317,371 (GRCm39)	T435A	probably benign	Het
Dock8	A	G	19: 25,096,816 (GRCm39)	S575G	probably benign	Het
Fbxw22	T	A	9: 109,210,790 (GRCm39)	Y407F	probably benign	Het
Fzd4	C	A	7: 89,056,943 (GRCm39)	A330E	probably damaging	Het
Gm17415	A	G	1: 93,349,672 (GRCm39)		probably benign	Het
Gnat1	C	T	9: 107,556,633 (GRCm39)		probably null	Het
Gtf3c4	T	C	2: 28,725,081 (GRCm39)	Y76C	probably damaging	Het
Heatr5b	G	A	17: 79,103,939 (GRCm39)	H1079Y	probably benign	Het
Helz	T	G	11: 107,577,340 (GRCm39)	I1897S	unknown	Het
Hspa12a	T	C	19: 58,816,681 (GRCm39)		probably null	Het
Kcne1	G	T	16: 92,145,534 (GRCm39)	F103L	probably benign	Het
Lrrc20	A	T	10: 61,383,874 (GRCm39)	S94C	probably damaging	Het
Lrrc8a	A	G	2: 30,147,111 (GRCm39)	T642A	probably benign	Het
Ly6g5b	A	G	17: 35,333,494 (GRCm39)	L106P	probably benign	Het
Lyst	A	G	13: 13,810,423 (GRCm39)	S698G	probably benign	Het
Ndrg1	A	G	15: 66,802,900 (GRCm39)	V334A	probably benign	Het
Neb	A	T	2: 52,116,545 (GRCm39)	Y964*	probably null	Het
Or4c123	T	C	2: 89,126,689 (GRCm39)		probably benign	Het
Or8k3	A	T	2: 86,058,973 (GRCm39)	I114N	possibly damaging	Het
Parp10	A	G	15: 76,125,588 (GRCm39)	F497L	probably damaging	Het
Pdss1	A	G	2: 22,825,589 (GRCm39)	M343V	possibly damaging	Het
Phactr3	C	T	2: 177,920,855 (GRCm39)	T231I	probably benign	Het
Plekhh2	A	T	17: 84,890,980 (GRCm39)		probably benign	Het
Ppp1r12c	A	C	7: 4,489,351 (GRCm39)		probably null	Het
Prdm2	G	T	4: 142,860,218 (GRCm39)	P1024H	probably damaging	Het
Prkacb	A	T	3: 146,461,448 (GRCm39)	M1K	probably null	Het
Prkdc	C	A	16: 15,653,030 (GRCm39)	P3835Q	probably damaging	Het
Rps27a	T	C	11: 29,496,353 (GRCm39)	T87A	probably benign	Het
Ryr2	T	A	13: 11,814,723 (GRCm39)	E683V	possibly damaging	Het
Sbk2	A	G	7: 4,960,528 (GRCm39)	L214P	probably damaging	Het
Sema4g	A	G	19: 44,985,835 (GRCm39)	S250G	probably benign	Het
Slc27a6	T	A	18: 58,742,281 (GRCm39)	D498E	probably benign	Het
Tarbp1	T	C	8: 127,154,894 (GRCm39)	D1410G	probably benign	Het
Tas2r134	T	A	2: 51,517,759 (GRCm39)	Y79*	probably null	Het
Tie1	T	C	4: 118,333,295 (GRCm39)	D857G	probably damaging	Het
Tnk2	A	G	16: 32,499,498 (GRCm39)	N432S	probably damaging	Het
Tubg2	C	A	11: 101,049,883 (GRCm39)	D176E	probably benign	Het
Ugt2b34	A	T	5: 87,039,264 (GRCm39)	W466R	probably damaging	Het
Usp47	T	A	7: 111,687,118 (GRCm39)	M692K	possibly damaging	Het
Vmn2r106	T	C	17: 20,499,807 (GRCm39)	K143E	probably benign	Het
Vmn2r118	G	A	17: 55,900,000 (GRCm39)	L635F	probably benign	Het
Vmn2r16	C	T	5: 109,510,267 (GRCm39)		probably benign	Het
Vmn2r76	A	T	7: 85,874,910 (GRCm39)	M689K	probably benign	Het
Zdhhc6	A	G	19: 55,298,186 (GRCm39)	F224L	probably benign	Het
Zfp493	T	G	13: 67,934,921 (GRCm39)	I291M	probably benign	Het

Other mutations in Xkr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Xkr6	APN	14	64,056,664 (GRCm39)	missense	probably damaging	0.96
IGL01450:Xkr6	APN	14	64,035,664 (GRCm39)	missense	probably damaging	0.98
IGL02010:Xkr6	APN	14	64,056,653 (GRCm39)	missense	probably benign	0.39
IGL02352:Xkr6	APN	14	64,057,156 (GRCm39)	missense	unknown
IGL02359:Xkr6	APN	14	64,057,156 (GRCm39)	missense	unknown
R0148:Xkr6	UTSW	14	64,056,998 (GRCm39)	missense	unknown
R0521:Xkr6	UTSW	14	64,056,871 (GRCm39)	missense	probably benign	0.28
R1555:Xkr6	UTSW	14	64,056,374 (GRCm39)	missense	unknown
R1619:Xkr6	UTSW	14	64,056,766 (GRCm39)	missense	probably benign	0.39
R1874:Xkr6	UTSW	14	64,035,745 (GRCm39)	missense	unknown
R2864:Xkr6	UTSW	14	64,057,205 (GRCm39)	missense	unknown
R2960:Xkr6	UTSW	14	63,844,586 (GRCm39)	missense	possibly damaging	0.71
R3014:Xkr6	UTSW	14	64,056,793 (GRCm39)	missense	unknown
R4888:Xkr6	UTSW	14	64,056,953 (GRCm39)	missense	unknown
R5019:Xkr6	UTSW	14	64,056,515 (GRCm39)	missense	unknown
R5193:Xkr6	UTSW	14	64,056,356 (GRCm39)	missense	possibly damaging	0.92
R5354:Xkr6	UTSW	14	64,056,353 (GRCm39)	missense	possibly damaging	0.48
R5485:Xkr6	UTSW	14	64,056,833 (GRCm39)	missense	unknown
R5825:Xkr6	UTSW	14	64,056,481 (GRCm39)	missense	probably benign	0.39
R5885:Xkr6	UTSW	14	63,844,360 (GRCm39)	missense	probably damaging	0.99
R6074:Xkr6	UTSW	14	63,844,519 (GRCm39)	missense	possibly damaging	0.67
R6861:Xkr6	UTSW	14	64,057,093 (GRCm39)	missense	probably benign	0.39
R7289:Xkr6	UTSW	14	64,035,748 (GRCm39)	missense	unknown
R7477:Xkr6	UTSW	14	63,844,129 (GRCm39)	missense	possibly damaging	0.84
R7525:Xkr6	UTSW	14	64,056,610 (GRCm39)	missense	probably benign	0.39
R7528:Xkr6	UTSW	14	64,056,610 (GRCm39)	missense	probably benign	0.39
R7529:Xkr6	UTSW	14	64,056,610 (GRCm39)	missense	probably benign	0.39
R7646:Xkr6	UTSW	14	63,844,423 (GRCm39)	missense	probably damaging	0.99
R7686:Xkr6	UTSW	14	63,844,295 (GRCm39)	missense	possibly damaging	0.96
R7697:Xkr6	UTSW	14	63,844,628 (GRCm39)	missense	probably damaging	0.99
R8331:Xkr6	UTSW	14	64,056,392 (GRCm39)	missense	unknown
R8702:Xkr6	UTSW	14	64,057,103 (GRCm39)	missense	unknown
R9169:Xkr6	UTSW	14	63,844,067 (GRCm39)	missense	possibly damaging	0.83
Z1176:Xkr6	UTSW	14	63,844,394 (GRCm39)	missense	probably benign	0.08

Posted On

2013-11-05