Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00591:Xkr8'

332734

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

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL00591

Quality Score

Status

Chromosome

Chromosomal Location

132452208-132459857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132455357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 339 (Y339N)

Ref Sequence

ENSEMBL: ENSMUSP00000041205 (fasta)

Gene Model

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

AlphaFold

Q8C0T0

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: Y339N

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

SMART Domains

Protein: ENSMUSP00000041205
Gene: ENSMUSG00000037752
AA Change: Y339N

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: ENSMUST00000150104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145668

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Csmd3	C	T	15: 47,868,279 (GRCm39)	C747Y	probably damaging	Het
Elk3	T	C	10: 93,120,689 (GRCm39)	N50S	probably damaging	Het
Esyt2	T	A	12: 116,327,064 (GRCm39)	L544H	probably damaging	Het
Faap20	A	G	4: 155,335,067 (GRCm39)	N56S	probably benign	Het
Fnd3c2	T	A	X: 105,279,597 (GRCm39)	Y845F	probably damaging	Het
Gm1110	C	A	9: 26,792,170 (GRCm39)	E617*	probably null	Het
Gpbp1	T	C	13: 111,577,284 (GRCm39)	D202G	probably damaging	Het
Hecw1	C	T	13: 14,440,565 (GRCm39)	G1242R	possibly damaging	Het
Iqce	A	T	5: 140,663,883 (GRCm39)	L132*	probably null	Het
Mthfd1	C	A	12: 76,347,213 (GRCm39)	P550Q	possibly damaging	Het
Pabpc6	C	T	17: 9,887,427 (GRCm39)	V375I	possibly damaging	Het
Sh2d4b	G	T	14: 40,594,490 (GRCm39)	F163L	probably benign	Het
Sp140	G	A	1: 85,549,393 (GRCm39)	R208K	probably benign	Het
Vps13d	T	C	4: 144,917,129 (GRCm39)	T12A	possibly damaging	Het
Zfp108	A	G	7: 23,960,911 (GRCm39)	K501E	possibly damaging	Het

Other mutations in Xkr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02170:Xkr8	APN	4	132,455,688 (GRCm39)	nonsense	probably null
IGL02475:Xkr8	APN	4	132,455,512 (GRCm39)	missense	probably damaging	1.00
R0565:Xkr8	UTSW	4	132,458,228 (GRCm39)	splice site	probably null
R0666:Xkr8	UTSW	4	132,459,649 (GRCm39)	missense	probably damaging	1.00
R1164:Xkr8	UTSW	4	132,459,722 (GRCm39)	missense	probably benign	0.00
R5699:Xkr8	UTSW	4	132,455,368 (GRCm39)	missense	probably damaging	1.00
R6650:Xkr8	UTSW	4	132,455,249 (GRCm39)	missense	probably benign	0.00
R7270:Xkr8	UTSW	4	132,455,648 (GRCm39)	missense	probably benign
R8022:Xkr8	UTSW	4	132,459,649 (GRCm39)	missense	probably damaging	1.00
R8223:Xkr8	UTSW	4	132,458,246 (GRCm39)	missense	probably damaging	1.00
R9105:Xkr8	UTSW	4	132,459,648 (GRCm39)	nonsense	probably null

Posted On

2015-08-05