Mutagenetix > Incidental Mutation

Incidental Mutation 'R8440:Xkr9'

660371

Institutional Source

Beutler Lab

Gene Symbol

Xkr9

Ensembl Gene

ENSMUSG00000067813

Gene Name

X-linked Kx blood group related 9

Synonyms

LOC381246

MMRRC Submission

067884-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13738995-13771947 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13771603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 373 (D373G)

Ref Sequence

ENSEMBL: ENSMUSP00000085900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088542]

AlphaFold

Q5GH62

Predicted Effect

probably benign
Transcript: ENSMUST00000088542
AA Change: D373G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000085900
Gene: ENSMUSG00000067813
AA Change: D373G

Domain	Start	End	E-Value	Type
Pfam:XK-related	9	346	2.8e-87	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak5	G	C	3: 152,209,680 (GRCm39)		probably null	Het
Bbs9	T	A	9: 22,479,046 (GRCm39)	V163E	probably damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cbr3	T	C	16: 93,480,421 (GRCm39)	I70T	probably damaging	Het
Chka	T	C	19: 3,943,375 (GRCm39)	Y426H	probably damaging	Het
Cpq	T	A	15: 33,213,341 (GRCm39)	M120K	possibly damaging	Het
Dcaf1	T	A	9: 106,725,073 (GRCm39)	C520S	possibly damaging	Het
Egfr	T	C	11: 16,859,831 (GRCm39)	Y1018H	probably damaging	Het
Eif3l	T	C	15: 78,961,120 (GRCm39)	Y58H	possibly damaging	Het
Frmd8	T	C	19: 5,915,202 (GRCm39)	Y234C	possibly damaging	Het
Fus	T	C	7: 127,568,998 (GRCm39)	Y50H	unknown	Het
Hmcn1	T	A	1: 150,570,671 (GRCm39)	Q2164L	probably damaging	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hsd11b1	T	C	1: 192,904,420 (GRCm39)	K260E	probably benign	Het
Igkv4-91	C	T	6: 68,745,556 (GRCm39)	G114D	probably benign	Het
Inpp4b	G	A	8: 82,768,524 (GRCm39)	E678K	probably damaging	Het
Kifc3	G	T	8: 95,836,422 (GRCm39)	P113Q	possibly damaging	Het
Lgi4	T	A	7: 30,760,049 (GRCm39)		probably null	Het
Map1s	A	G	8: 71,365,163 (GRCm39)	N107D	probably damaging	Het
Meiob	G	T	17: 25,037,302 (GRCm39)	C60F	probably benign	Het
Nedd4l	G	T	18: 65,022,126 (GRCm39)		probably null	Het
Omp	A	G	7: 97,794,253 (GRCm39)	F125L	probably damaging	Het
Or1ad6	T	C	11: 50,860,024 (GRCm39)	Y60H	probably damaging	Het
Or51h1	G	A	7: 102,308,275 (GRCm39)	M82I	probably damaging	Het
Or5a1	C	T	19: 12,097,308 (GRCm39)	C244Y	probably damaging	Het
Pcdha3	T	C	18: 37,080,914 (GRCm39)	V552A	probably damaging	Het
Plek	T	C	11: 16,945,276 (GRCm39)	D18G	possibly damaging	Het
Ppip5k2	T	C	1: 97,675,276 (GRCm39)	T376A	probably damaging	Het
Prkdc	CAAA	CAAAA	16: 15,653,022 (GRCm39)	3833	probably null	Het
Rabgap1	T	C	2: 37,432,692 (GRCm39)		probably null	Het
Rtn1	T	A	12: 72,270,173 (GRCm39)	I113F	probably damaging	Het
Ssu2	T	A	6: 112,364,950 (GRCm39)	D4V	probably benign	Het
St6galnac2	T	C	11: 116,568,374 (GRCm39)	H363R	probably damaging	Het
Stk19	T	C	17: 35,055,456 (GRCm39)	S60G	possibly damaging	Het
Suco	G	A	1: 161,679,907 (GRCm39)	T332I	probably damaging	Het
Trbv20	T	A	6: 41,165,892 (GRCm39)	Y106N	probably damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Vmn1r128	G	A	7: 21,083,745 (GRCm39)	V150I	probably benign	Het
Vmn2r54	A	T	7: 12,350,013 (GRCm39)	V523E	possibly damaging	Het
Vmn2r61	A	T	7: 41,916,080 (GRCm39)	E231V	probably benign	Het
Zfp592	G	C	7: 80,691,271 (GRCm39)	S1150T	possibly damaging	Het

Other mutations in Xkr9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01990:Xkr9	APN	1	13,771,203 (GRCm39)	missense	probably benign	0.00
IGL02090:Xkr9	APN	1	13,771,600 (GRCm39)	missense	probably damaging	1.00
IGL02405:Xkr9	APN	1	13,742,997 (GRCm39)	splice site	probably benign
IGL02523:Xkr9	APN	1	13,754,474 (GRCm39)	missense	probably benign	0.01
IGL02792:Xkr9	APN	1	13,771,027 (GRCm39)	missense	probably damaging	1.00
IGL02820:Xkr9	APN	1	13,771,173 (GRCm39)	missense	probably benign
IGL02821:Xkr9	APN	1	13,742,799 (GRCm39)	missense	probably damaging	1.00
IGL03170:Xkr9	APN	1	13,771,036 (GRCm39)	missense	possibly damaging	0.72
IGL03222:Xkr9	APN	1	13,771,505 (GRCm39)	nonsense	probably null
R0044:Xkr9	UTSW	1	13,754,286 (GRCm39)	nonsense	probably null
R0044:Xkr9	UTSW	1	13,754,286 (GRCm39)	nonsense	probably null
R0595:Xkr9	UTSW	1	13,771,008 (GRCm39)	missense	probably benign	0.02
R1337:Xkr9	UTSW	1	13,771,348 (GRCm39)	missense	possibly damaging	0.94
R1670:Xkr9	UTSW	1	13,771,167 (GRCm39)	missense	probably damaging	0.97
R5007:Xkr9	UTSW	1	13,771,387 (GRCm39)	missense	probably damaging	0.98
R6133:Xkr9	UTSW	1	13,754,359 (GRCm39)	missense	probably benign	0.01
R6302:Xkr9	UTSW	1	13,742,726 (GRCm39)	missense	probably damaging	1.00
R8153:Xkr9	UTSW	1	13,754,363 (GRCm39)	missense	probably benign	0.10
R8520:Xkr9	UTSW	1	13,771,603 (GRCm39)	missense	probably benign	0.31
R8823:Xkr9	UTSW	1	13,742,832 (GRCm39)	missense	probably benign	0.43
R8985:Xkr9	UTSW	1	13,770,990 (GRCm39)	missense	probably benign
R9084:Xkr9	UTSW	1	13,742,733 (GRCm39)	missense	probably benign	0.15
R9441:Xkr9	UTSW	1	13,771,587 (GRCm39)	missense	possibly damaging	0.94
R9658:Xkr9	UTSW	1	13,771,318 (GRCm39)	missense	probably damaging	1.00
X0025:Xkr9	UTSW	1	13,742,858 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- CCTGGGAATCTTGACTGTATTCTGG -3'
(R):5'- CAAGACTTTTGGAACCAGCGAG -3'

Sequencing Primer
(F):5'- AATCTTGACTGTATTCTGGATCTACC -3'
(R):5'- TTACATAGCATGTGCAGGCC -3'

Posted On

2021-01-18