Mutagenetix > Incidental Mutation

Incidental Mutation 'R6074:Xkr6'

482666

Institutional Source

Beutler Lab

Gene Symbol

Xkr6

Ensembl Gene

ENSMUSG00000035067

Gene Name

X-linked Kx blood group related 6

Synonyms

MMRRC Submission

044235-MU

Accession Numbers

Essential gene?

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

Stock #

R6074 (G1)

Quality Score

171.009

Status

Not validated

Chromosome

Chromosomal Location

63843952-64058258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 63844519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 181 (F181V)

Ref Sequence

ENSEMBL: ENSMUSP00000113708 (fasta)

Gene Model

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

AlphaFold

E9Q6C8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119973
AA Change: F181V

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113708
Gene: ENSMUSG00000035067
AA Change: F181V

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

noncoding transcript
Transcript: ENSMUST00000137259

Predicted Effect

unknown
Transcript: ENSMUST00000176510
AA Change: F132V

SMART Domains

Protein: ENSMUSP00000134975
Gene: ENSMUSG00000035067
AA Change: F132V

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

Predicted Effect

unknown
Transcript: ENSMUST00000177500
AA Change: F15V

Meta Mutation Damage Score

0.2992

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo1	T	A	3: 108,099,009 (GRCm39)	C189*	probably null	Het
Auts2	G	T	5: 131,505,828 (GRCm39)		probably benign	Het
Cadps2	C	A	6: 23,626,670 (GRCm39)	W177L	probably damaging	Het
Camk2b	G	T	11: 5,939,635 (GRCm39)	P223Q	probably damaging	Het
Ccdc74a	C	A	16: 17,464,591 (GRCm39)	S9*	probably null	Het
Ccnt1	A	C	15: 98,441,205 (GRCm39)	Y688D	probably damaging	Het
Cdhr1	T	C	14: 36,801,600 (GRCm39)	N781S	probably benign	Het
Ceacam3	C	T	7: 16,885,484 (GRCm39)	T29I	probably benign	Het
Cep170b	T	C	12: 112,710,589 (GRCm39)	S1473P	probably damaging	Het
Col19a1	T	A	1: 24,565,564 (GRCm39)	T256S	unknown	Het
Eif2d	T	A	1: 131,094,079 (GRCm39)	D423E	probably damaging	Het
Fam13a	A	G	6: 58,966,723 (GRCm39)		probably null	Het
Gaa	G	A	11: 119,175,012 (GRCm39)	R871H	probably benign	Het
Galnt12	T	A	4: 47,112,405 (GRCm39)	V37D	probably damaging	Het
Glp2r	A	G	11: 67,637,640 (GRCm39)	S13P	unknown	Het
Gnptab	C	T	10: 88,268,940 (GRCm39)	L548F	probably damaging	Het
Heg1	C	T	16: 33,547,573 (GRCm39)	P787S	possibly damaging	Het
Hivep2	T	A	10: 14,007,485 (GRCm39)	M1361K	probably benign	Het
Hivep3	T	C	4: 119,954,891 (GRCm39)	I1069T	possibly damaging	Het
Hspg2	A	G	4: 137,268,046 (GRCm39)	D2121G	probably benign	Het
Htatip2	A	G	7: 49,422,322 (GRCm39)		probably null	Het
Ighv1-75	T	C	12: 115,798,007 (GRCm39)	S4G	probably benign	Het
Ip6k1	A	G	9: 107,901,308 (GRCm39)		probably benign	Het
Kcna6	A	G	6: 126,716,242 (GRCm39)	S216P	probably benign	Het
Kif21a	T	A	15: 90,865,095 (GRCm39)	T526S	probably benign	Het
Kng2	C	T	16: 22,819,346 (GRCm39)	G230D	probably benign	Het
Lgi2	A	T	5: 52,703,984 (GRCm39)	F216I	probably benign	Het
Lratd1	G	A	12: 14,200,512 (GRCm39)	H72Y	probably benign	Het
Lss	T	A	10: 76,379,693 (GRCm39)	N383K	probably damaging	Het
Mical1	T	C	10: 41,362,061 (GRCm39)	M929T	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nat8f4	A	G	6: 85,878,169 (GRCm39)	V118A	probably damaging	Het
Or10j5	T	A	1: 172,784,945 (GRCm39)	N194K	probably benign	Het
Or4p23	A	C	2: 88,576,566 (GRCm39)	L222R	probably damaging	Het
Or6b2	G	A	1: 92,407,497 (GRCm39)	T282M	probably benign	Het
Osbpl11	T	A	16: 33,030,335 (GRCm39)	S188T	probably benign	Het
Pea15a	C	T	1: 172,026,752 (GRCm39)	R85H	possibly damaging	Het
Ppp1r13b	A	G	12: 111,798,836 (GRCm39)	I919T	probably damaging	Het
Rasgrf1	A	G	9: 89,835,968 (GRCm39)	D232G	probably benign	Het
Rp1	A	G	1: 4,415,602 (GRCm39)	S1837P	probably benign	Het
Samd5	T	A	10: 9,550,334 (GRCm39)	Y125F	possibly damaging	Het
Skint5	T	C	4: 113,662,397 (GRCm39)	T597A	unknown	Het
Slc25a12	A	G	2: 71,106,798 (GRCm39)	F605L	probably benign	Het
Slc39a12	C	T	2: 14,412,290 (GRCm39)	Q321*	probably null	Het
Slc6a19	T	C	13: 73,837,882 (GRCm39)	S206G	probably benign	Het
Tacc2	T	A	7: 130,227,165 (GRCm39)	H1283Q	possibly damaging	Het
Thumpd3	A	G	6: 113,036,971 (GRCm39)	E290G	possibly damaging	Het
Timd2	C	T	11: 46,577,999 (GRCm39)	G44D	possibly damaging	Het
Tmem74	A	G	15: 43,730,134 (GRCm39)	V303A	possibly damaging	Het
Tpo	A	G	12: 30,128,186 (GRCm39)	V785A	probably benign	Het
Tpra1	T	A	6: 88,888,919 (GRCm39)	I367N	possibly damaging	Het
Txnrd2	T	C	16: 18,256,297 (GRCm39)	I95T	probably damaging	Het
Usp32	A	G	11: 84,885,399 (GRCm39)	V1216A	probably benign	Het
Usp54	C	A	14: 20,602,167 (GRCm39)	M1394I	probably benign	Het
Vmn2r13	A	G	5: 109,322,167 (GRCm39)	F177L	probably benign	Het
Vmn2r82	T	A	10: 79,232,377 (GRCm39)	V792E	probably damaging	Het
Wdfy4	C	T	14: 32,805,596 (GRCm39)		probably null	Het
Wnk2	A	T	13: 49,204,875 (GRCm39)	C458S	probably damaging	Het
Zfp212	T	A	6: 47,903,986 (GRCm39)	C149*	probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp661	A	G	2: 127,419,793 (GRCm39)	S116P	probably benign	Het
Zfp770	A	G	2: 114,026,870 (GRCm39)	Y400H	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
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

Predicted Primers

PCR Primer
(F):5'- ACATCTGCCACTGCTGCAAC -3'
(R):5'- ATCTGCAGCAGGTGGATGAC -3'

Posted On

2017-07-14