Mutagenetix > Incidental Mutation

Incidental Mutation 'R7646:Xkr6'

590562

Institutional Source

Beutler Lab

Gene Symbol

Xkr6

Ensembl Gene

ENSMUSG00000035067

Gene Name

X-linked Kx blood group related 6

Synonyms

MMRRC Submission

045724-MU

Accession Numbers

Essential gene?

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

Stock #

R7646 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63843952-64058258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63844423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 149 (D149Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113708 (fasta)

Gene Model

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

AlphaFold

E9Q6C8

Predicted Effect

probably damaging
Transcript: ENSMUST00000119973
AA Change: D149Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113708
Gene: ENSMUSG00000035067
AA Change: D149Y

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

SMART Domains

Protein: ENSMUSP00000134975
Gene: ENSMUSG00000035067
AA Change: D100Y

Domain	Start	End	E-Value	Type
Pfam:XK-related	79	207	1.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177500

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,113,937 (GRCm39)	H936R	probably benign	Het
Afg3l1	C	A	8: 124,219,766 (GRCm39)	D431E	possibly damaging	Het
Agrn	T	C	4: 156,279,811 (GRCm39)	N120S	probably damaging	Het
Apob	A	G	12: 8,059,189 (GRCm39)	D2557G	probably damaging	Het
Atl2	A	G	17: 80,162,036 (GRCm39)	Y359H	probably damaging	Het
Banp	T	C	8: 122,750,775 (GRCm39)	S489P	possibly damaging	Het
Cage1	A	G	13: 38,206,823 (GRCm39)	C341R	probably damaging	Het
Cdh23	T	C	10: 60,140,931 (GRCm39)	N3139S	possibly damaging	Het
Chd2	G	T	7: 73,085,521 (GRCm39)	S1704R	possibly damaging	Het
Col4a2	T	A	8: 11,495,086 (GRCm39)	F1515I	probably benign	Het
Crocc	T	A	4: 140,748,966 (GRCm39)	Q1613L	probably null	Het
Cttnbp2	A	T	6: 18,375,939 (GRCm39)	S1533R	probably damaging	Het
Dlgap5	C	T	14: 47,636,976 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,868,651 (GRCm39)	D362N	probably benign	Het
Elf5	G	T	2: 103,269,588 (GRCm39)	K56N	probably benign	Het
Emsy	G	A	7: 98,268,560 (GRCm39)	P508S	probably damaging	Het
Fam135a	T	C	1: 24,067,704 (GRCm39)	H1055R	probably benign	Het
Fh1	C	T	1: 175,442,479 (GRCm39)	V124I	probably benign	Het
Gbf1	T	A	19: 46,272,111 (GRCm39)	D1610E	probably damaging	Het
Glp1r	A	G	17: 31,155,257 (GRCm39)	K415E	probably benign	Het
Glyr1	T	C	16: 4,836,361 (GRCm39)	D496G	probably damaging	Het
Herc2	A	G	7: 55,784,361 (GRCm39)	I1342V	probably benign	Het
Hoxa7	A	G	6: 52,192,699 (GRCm39)	*230Q	probably null	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Ildr1	T	A	16: 36,542,281 (GRCm39)	M271K	possibly damaging	Het
Klk1b22	T	G	7: 43,765,542 (GRCm39)		probably null	Het
Lig3	T	A	11: 82,674,304 (GRCm39)	N43K	probably benign	Het
Mcmdc2	A	G	1: 9,982,360 (GRCm39)	T83A	possibly damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,298,498 (GRCm39)	S2179T	possibly damaging	Het
Mrpl38	G	A	11: 116,023,593 (GRCm39)	S282L	probably damaging	Het
Ndst2	A	G	14: 20,774,527 (GRCm39)		probably null	Het
Nlrp4a	C	G	7: 26,148,987 (GRCm39)	A198G	probably damaging	Het
Nup98	A	C	7: 101,803,242 (GRCm39)	S653A	probably benign	Het
Or12e8	A	G	2: 87,188,102 (GRCm39)	I105V	probably benign	Het
Or13a27	A	G	7: 139,925,864 (GRCm39)	F13L	probably damaging	Het
Or14j10	G	T	17: 37,935,295 (GRCm39)	T77K	probably damaging	Het
Or51ai2	G	A	7: 103,587,504 (GRCm39)	A306T	probably damaging	Het
Or8k37	C	A	2: 86,469,513 (GRCm39)	D180Y	probably damaging	Het
Pclo	A	T	5: 14,570,909 (GRCm39)	D98V	probably damaging	Het
Peg3	A	T	7: 6,712,221 (GRCm39)	D1000E	probably benign	Het
Polr3h	A	G	15: 81,801,571 (GRCm39)	Y131H	probably damaging	Het
Rapgef6	A	G	11: 54,516,780 (GRCm39)	I346V	probably benign	Het
Rufy1	T	A	11: 50,301,436 (GRCm39)	K332M	probably damaging	Het
Scn1a	T	C	2: 66,118,102 (GRCm39)	M404V	possibly damaging	Het
Septin8	T	A	11: 53,428,744 (GRCm39)		probably null	Het
Sesn3	A	G	9: 14,219,911 (GRCm39)	D100G	probably damaging	Het
Setx	A	G	2: 29,067,561 (GRCm39)	I2388V	possibly damaging	Het
Skint5	T	A	4: 113,620,739 (GRCm39)		probably null	Het
Slc25a23	C	T	17: 57,366,759 (GRCm39)		probably benign	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Slco3a1	G	A	7: 74,154,344 (GRCm39)	A76V	probably damaging	Het
Stradb	A	T	1: 59,033,567 (GRCm39)	D410V	probably benign	Het
Syne1	T	C	10: 5,122,949 (GRCm39)	D329G	probably damaging	Het
Syt4	A	C	18: 31,574,658 (GRCm39)	S320A	possibly damaging	Het
Tnfsf4	A	G	1: 161,244,733 (GRCm39)	T141A	possibly damaging	Het
Trim34b	G	A	7: 103,984,559 (GRCm39)	A279T	probably damaging	Het
Trpm6	A	T	19: 18,845,325 (GRCm39)	D1675V	probably benign	Het
Vmn2r24	T	A	6: 123,793,169 (GRCm39)	M832K	probably benign	Het
Wdr90	A	G	17: 26,079,104 (GRCm39)	V246A	probably benign	Het
Zfp108	A	G	7: 23,960,840 (GRCm39)	Y477C	probably damaging	Het
Zfp37	T	G	4: 62,109,532 (GRCm39)	I552L	probably damaging	Het
Zfp426	A	T	9: 20,381,320 (GRCm39)	S556T	probably damaging	Het
Zfp954	G	A	7: 7,118,720 (GRCm39)	L275F	possibly damaging	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
IGL01419:Xkr6	APN	14	64,056,325 (GRCm39)	missense	probably benign	0.39
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
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

Predicted Primers

PCR Primer
(F):5'- AACACCTCCTCGTGCTACTG -3'
(R):5'- TATAGACCGTCCCGAGATGC -3'

Sequencing Primer
(F):5'- TCGCTGCTGGGCAAGAAG -3'
(R):5'- CGTCCCGAGATGCTAAGACAG -3'

Posted On

2019-10-24