Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02523:Xkr9'

296958

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xkr9

Ensembl Gene

ENSMUSG00000067813

Gene Name

X-linked Kx blood group related 9

Synonyms

LOC381246

Accession Numbers

Essential gene?

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

Stock #

IGL02523

Quality Score

Status

Chromosome

Chromosomal Location

13738995-13771947 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13754474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 156 (E156G)

Ref Sequence

ENSEMBL: ENSMUSP00000085900 (fasta)

Gene Model

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

AlphaFold

Q5GH62

Predicted Effect

probably benign
Transcript: ENSMUST00000088542
AA Change: E156G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000085900
Gene: ENSMUSG00000067813
AA Change: E156G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah1	T	C	8: 41,804,984 (GRCm39)	D109G	probably benign	Het
Ces2c	C	A	8: 105,574,746 (GRCm39)	P68T	probably damaging	Het
Csl	G	A	10: 99,594,675 (GRCm39)	T130I	probably benign	Het
Cyp2g1	C	T	7: 26,518,612 (GRCm39)	R376W	probably damaging	Het
Ddb1	T	C	19: 10,604,996 (GRCm39)	L1029P	probably damaging	Het
Dennd4c	T	C	4: 86,692,490 (GRCm39)		probably benign	Het
Eya2	C	T	2: 165,596,356 (GRCm39)		probably benign	Het
Fars2	G	T	13: 36,388,676 (GRCm39)	G55V	probably damaging	Het
Fcgbp	C	A	7: 27,804,157 (GRCm39)	A1755E	possibly damaging	Het
Ggt7	T	A	2: 155,356,623 (GRCm39)	E32V	probably damaging	Het
Heg1	C	A	16: 33,558,992 (GRCm39)	T1071K	probably damaging	Het
Hpca	A	G	4: 129,012,368 (GRCm39)	F56S	probably damaging	Het
Hyal4	T	A	6: 24,765,968 (GRCm39)	Y441N	probably damaging	Het
Igsf8	T	A	1: 172,146,980 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,459,109 (GRCm39)	S301P	probably benign	Het
Krt33a	G	A	11: 99,902,518 (GRCm39)	T374I	probably benign	Het
Nav3	T	C	10: 109,605,157 (GRCm39)	D972G	probably damaging	Het
Npc1	T	C	18: 12,334,629 (GRCm39)	T708A	probably benign	Het
Or10ag52	A	T	2: 87,043,664 (GRCm39)	N143Y	probably benign	Het
Or13p10	A	T	4: 118,523,238 (GRCm39)	N175Y	probably benign	Het
Or1l8	T	C	2: 36,817,967 (GRCm39)	D53G	probably damaging	Het
Or6d14	A	T	6: 116,534,054 (GRCm39)	I223L	probably benign	Het
P2rx2	A	G	5: 110,489,908 (GRCm39)	S87P	probably damaging	Het
Pdxdc1	A	T	16: 13,699,799 (GRCm39)	L62H	probably damaging	Het
Plekhj1	A	T	10: 80,633,683 (GRCm39)		probably null	Het
Ptbp2	A	T	3: 119,534,136 (GRCm39)	Y244*	probably null	Het
Ralbp1	T	C	17: 66,166,086 (GRCm39)	E366G	probably damaging	Het
Rergl	T	A	6: 139,473,458 (GRCm39)		probably benign	Het
Slc25a45	T	A	19: 5,934,637 (GRCm39)		probably null	Het
Spop	G	A	11: 95,376,747 (GRCm39)	D267N	possibly damaging	Het
Tars2	T	C	3: 95,648,705 (GRCm39)	D625G	probably damaging	Het
Tlk2	A	G	11: 105,166,773 (GRCm39)	K593R	probably damaging	Het
Tlr3	T	A	8: 45,851,428 (GRCm39)		probably null	Het
Tmem205	C	T	9: 21,832,584 (GRCm39)	R109H	probably benign	Het
Tmem41b	A	G	7: 109,581,935 (GRCm39)	I56T	probably damaging	Het
Ube2q2	T	C	9: 55,099,163 (GRCm39)	V168A	probably damaging	Het
Ufsp2	T	A	8: 46,436,585 (GRCm39)	M112K	probably damaging	Het
Wipi2	T	A	5: 142,646,787 (GRCm39)	V208E	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
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
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

Posted On

2015-04-16