Mutagenetix > Incidental Mutation

Incidental Mutation 'R8153:Xkr9'

633111

Institutional Source

Beutler Lab

Gene Symbol

Xkr9

Ensembl Gene

ENSMUSG00000067813

Gene Name

X-linked Kx blood group related 9

Synonyms

LOC381246

MMRRC Submission

067579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8153 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13738995-13771947 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13754363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 119 (D119G)

Ref Sequence

ENSEMBL: ENSMUSP00000085900 (fasta)

Gene Model

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

AlphaFold

Q5GH62

Predicted Effect

probably benign
Transcript: ENSMUST00000088542
AA Change: D119G

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000085900
Gene: ENSMUSG00000067813
AA Change: D119G

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,157 (GRCm39)	S287T	probably benign	Het
Abca15	T	C	7: 119,999,812 (GRCm39)	S1429P	probably damaging	Het
Arfgef2	GTGTGCAGAAACT	GT	2: 166,676,383 (GRCm39)	92	probably null	Het
C1qb	A	G	4: 136,607,877 (GRCm39)	V162A	possibly damaging	Het
Cachd1	G	T	4: 100,845,835 (GRCm39)		probably null	Het
Cfap61	T	C	2: 146,042,704 (GRCm39)	I1159T	probably benign	Het
Csf1	T	A	3: 107,656,020 (GRCm39)	D337V	probably damaging	Het
Ddhd2	T	A	8: 26,240,816 (GRCm39)	T251S	probably benign	Het
Dnah5	A	G	15: 28,384,576 (GRCm39)	T3107A	probably damaging	Het
Dnph1	T	C	17: 46,809,965 (GRCm39)	V169A	probably benign	Het
Ebf2	T	C	14: 67,627,914 (GRCm39)	V303A	probably damaging	Het
Eif4a3l2	A	T	6: 116,528,968 (GRCm39)	I282F	probably damaging	Het
Enpp3	A	G	10: 24,685,777 (GRCm39)	F206S	probably damaging	Het
Fam151b	G	T	13: 92,614,410 (GRCm39)	T26K	probably damaging	Het
Fga	T	C	3: 82,938,164 (GRCm39)	S180P	probably damaging	Het
Fpr-rs3	A	G	17: 20,844,685 (GRCm39)	L152P	probably damaging	Het
Gen1	C	A	12: 11,310,948 (GRCm39)	G95W	probably damaging	Het
Ggta1	T	A	2: 35,313,333 (GRCm39)	T3S	possibly damaging	Het
Gm4884	T	A	7: 40,692,582 (GRCm39)	C184S	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsx2	T	C	5: 75,237,716 (GRCm39)	S223P	probably damaging	Het
Hnf4g	C	T	3: 3,699,250 (GRCm39)		probably benign	Het
Iqub	A	C	6: 24,450,789 (GRCm39)	Y603*	probably null	Het
Klhl22	A	G	16: 17,610,414 (GRCm39)	N555S	probably damaging	Het
Lama5	T	C	2: 179,829,724 (GRCm39)	D1928G	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Lamc2	CATCAGCTA	CA	1: 152,999,850 (GRCm39)		probably null	Het
Lgr4	T	A	2: 109,830,645 (GRCm39)	F255I	probably damaging	Het
Lnx2	T	C	5: 146,964,906 (GRCm39)	N439S	probably benign	Het
Lztr1	G	T	16: 17,336,439 (GRCm39)		probably null	Het
Mtcl3	G	T	10: 29,024,235 (GRCm39)	E384*	probably null	Het
Nfkb2	G	T	19: 46,296,455 (GRCm39)	R241L	probably damaging	Het
Nrcam	T	C	12: 44,631,755 (GRCm39)	F1103L	probably benign	Het
Or2g1	A	G	17: 38,106,367 (GRCm39)	I11V	probably benign	Het
Or5k17	A	G	16: 58,746,149 (GRCm39)	S262P	possibly damaging	Het
Or8d2	A	G	9: 38,759,631 (GRCm39)	I74V	possibly damaging	Het
Or8g52	A	G	9: 39,630,954 (GRCm39)	M144V	possibly damaging	Het
Otof	C	A	5: 30,546,079 (GRCm39)	A425S	probably damaging	Het
Parg	T	A	14: 31,984,777 (GRCm39)	L774H	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pcnx4	T	A	12: 72,603,017 (GRCm39)	F426L	probably benign	Het
Pde5a	T	G	3: 122,646,225 (GRCm39)	S805R	probably benign	Het
Pde5a	T	A	3: 122,646,227 (GRCm39)	M806K	probably damaging	Het
Plekhh1	T	C	12: 79,125,812 (GRCm39)	S1283P	probably benign	Het
Ppp1r12a	A	G	10: 107,998,303 (GRCm39)	K15E	probably damaging	Het
Prkdc	A	T	16: 15,482,108 (GRCm39)	M384L	probably damaging	Het
Ptchd4	A	G	17: 42,814,787 (GRCm39)	D896G	probably benign	Het
Rsf1	GGC	GGCTACGGCCGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slmap	T	C	14: 26,254,488 (GRCm39)	S65G	probably benign	Het
Snta1	C	A	2: 154,222,722 (GRCm39)	L298F	probably damaging	Het
Sphkap	T	G	1: 83,255,730 (GRCm39)	N673T	possibly damaging	Het
St8sia5	T	G	18: 77,340,807 (GRCm39)		probably null	Het
Tgm6	T	C	2: 129,986,975 (GRCm39)	V481A	probably benign	Het
Thada	T	C	17: 84,700,855 (GRCm39)	N1217S	possibly damaging	Het
Tia1	C	G	6: 86,397,314 (GRCm39)	H107D	probably damaging	Het
Ttn	A	G	2: 76,746,956 (GRCm39)	Y4698H	probably benign	Het
Ube3c	T	C	5: 29,811,929 (GRCm39)	Y390H	possibly damaging	Het
Ubqln5	A	G	7: 103,778,011 (GRCm39)	I271T	possibly damaging	Het
Vmn2r109	A	G	17: 20,784,969 (GRCm39)	V17A	probably benign	Het
Zfp236	C	T	18: 82,648,152 (GRCm39)	C1003Y	probably 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
R8440:Xkr9	UTSW	1	13,771,603 (GRCm39)	missense	probably benign	0.31
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'- GTGTGCTAGGATGCATATAGATAAC -3'
(R):5'- TCATAAGAATCTCGGTGGCATAC -3'

Sequencing Primer
(F):5'- TTCAGGTGATAGACATGTTTAATCTG -3'
(R):5'- TGGCATACACCTACCCTGG -3'

Posted On

2020-06-30