Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02475:Xkr8'

294917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xkr8

Ensembl Gene

ENSMUSG00000037752

Gene Name

X-linked Kx blood group related 8

Synonyms

4931440N07Rik, LOC381560

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

132724897-132732546 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132728201 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 287 (I287N)

Ref Sequence

ENSEMBL: ENSMUSP00000041205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020197] [ENSMUST00000030709] [ENSMUST00000045550] [ENSMUST00000079157] [ENSMUST00000081726] [ENSMUST00000180250]

Predicted Effect

probably benign
Transcript: ENSMUST00000020197

SMART Domains

Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886

Domain	Start	End	E-Value	Type
low complexity region	19	38	N/A	INTRINSIC
low complexity region	71	83	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
PDB:4EGC\|B	132	416	1e-136	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000030709

SMART Domains

Protein: ENSMUSP00000030709
Gene: ENSMUSG00000028885

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Metallophos	21	281	1.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000045550
AA Change: I287N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041205
Gene: ENSMUSG00000037752
AA Change: I287N

Domain	Start	End	E-Value	Type
Pfam:XK-related	14	345	2.3e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079157

SMART Domains

Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886

Domain	Start	End	E-Value	Type
low complexity region	72	89	N/A	INTRINSIC
low complexity region	113	132	N/A	INTRINSIC
low complexity region	165	177	N/A	INTRINSIC
low complexity region	192	203	N/A	INTRINSIC
PDB:4EGC\|B	226	510	1e-135	PDB
SCOP:d1lvha_	345	507	8e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081726

SMART Domains

Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886

Domain	Start	End	E-Value	Type
low complexity region	88	105	N/A	INTRINSIC
low complexity region	129	148	N/A	INTRINSIC
low complexity region	181	193	N/A	INTRINSIC
low complexity region	208	219	N/A	INTRINSIC
Pfam:Hydrolase	256	502	5.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150104

Predicted Effect

probably benign
Transcript: ENSMUST00000180250

SMART Domains

Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886

Domain	Start	End	E-Value	Type
low complexity region	19	38	N/A	INTRINSIC
low complexity region	71	83	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
PDB:4EGC\|B	132	416	1e-136	PDB

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,533		probably benign	Het
5730409E04Rik	A	G	4: 126,611,949	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849	I27N	probably damaging	Het
Akap6	A	T	12: 53,139,494	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,996,893	V31A	possibly damaging	Het
Cep350	G	A	1: 155,862,595	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,257,991		probably null	Het
Crcp	T	C	5: 130,059,858		probably benign	Het
Creb5	G	A	6: 53,693,924	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,150	D38G	probably benign	Het
Fam171a1	A	G	2: 3,223,490	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,857,735	V396A	possibly damaging	Het
Gm10340	G	A	14: 3,140,482		probably benign	Het
Gm20390	A	G	11: 93,955,574	V16A	probably damaging	Het
Grik3	A	G	4: 125,650,517	T344A	probably benign	Het
Itga7	T	C	10: 128,934,089	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936		probably benign	Het
Neb	G	T	2: 52,292,819	N1038K	probably damaging	Het
Nf1	T	C	11: 79,535,667	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,479,150	T632K	possibly damaging	Het
Nts	A	G	10: 102,490,247		probably benign	Het
Olfml2b	A	G	1: 170,682,174	D697G	probably damaging	Het
Olfr1031	T	C	2: 85,992,032	F72L	probably benign	Het
Olfr1502	T	A	19: 13,862,299	C169S	probably damaging	Het
Olfr205	A	T	16: 59,328,725	H261Q	probably benign	Het
Otof	T	C	5: 30,376,682	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Rnaseh2b	T	A	14: 62,346,615	F37I	probably damaging	Het
Rtn4	T	A	11: 29,733,801	I1031N	probably damaging	Het
Rxfp2	A	G	5: 150,063,686	E344G	probably benign	Het
Scel	A	G	14: 103,537,008	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,482,996	E39G	probably benign	Het
Slc6a12	T	A	6: 121,354,375		probably null	Het
Snapc3	C	A	4: 83,450,096	H277N	probably benign	Het
Susd2	A	G	10: 75,637,499		probably null	Het
Tagap1	T	C	17: 6,956,427	Q290R	probably benign	Het
Tenm3	A	T	8: 48,279,198		probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,377	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,050,502	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,499,874	V17M	probably benign	Het
Trip11	T	A	12: 101,895,683	T208S	probably benign	Het
Ttc17	C	A	2: 94,364,376	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,587,101	W222R	probably damaging	Het
Zdhhc2	G	T	8: 40,473,025	G354C	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het

Other mutations in Xkr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Xkr8	APN	4	132728046	missense	probably damaging	1.00
IGL02170:Xkr8	APN	4	132728377	nonsense	probably null
R0565:Xkr8	UTSW	4	132730917	splice site	probably null
R0666:Xkr8	UTSW	4	132732338	missense	probably damaging	1.00
R1164:Xkr8	UTSW	4	132732411	missense	probably benign	0.00
R5699:Xkr8	UTSW	4	132728057	missense	probably damaging	1.00
R6650:Xkr8	UTSW	4	132727938	missense	probably benign	0.00
R7270:Xkr8	UTSW	4	132728337	missense	probably benign
R8022:Xkr8	UTSW	4	132732338	missense	probably damaging	1.00
R8223:Xkr8	UTSW	4	132730935	missense	probably damaging	1.00

Posted On

2015-04-16