Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01888:Gm10718'

279012

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10718

Ensembl Gene

ENSMUSG00000095186

Gene Name

predicted gene 10718

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

IGL01888

Quality Score

Status

Chromosome

Chromosomal Location

3023547-3025218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3025118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 194 (Y194F)

Ref Sequence

ENSEMBL: ENSMUSP00000096645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075573] [ENSMUST00000099046] [ENSMUST00000099047] [ENSMUST00000099051] [ENSMUST00000177601] [ENSMUST00000177875] [ENSMUST00000179272] [ENSMUST00000179982]

AlphaFold

D3Z1I7

Predicted Effect

probably benign
Transcript: ENSMUST00000075573

SMART Domains

Protein: ENSMUSP00000096644
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	1	41	1.06e-10	PROSPERO
transmembrane domain	68	90	N/A	INTRINSIC
internal_repeat_1	118	177	1.06e-10	PROSPERO
transmembrane domain	200	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099046
AA Change: Y194F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096645
Gene: ENSMUSG00000095186
AA Change: Y194F

Domain	Start	End	E-Value	Type
internal_repeat_1	1	41	4.44e-7	PROSPERO
transmembrane domain	67	89	N/A	INTRINSIC
internal_repeat_1	117	177	4.44e-7	PROSPERO
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099047

SMART Domains

Protein: ENSMUSP00000096646
Gene: ENSMUSG00000095547

Domain	Start	End	E-Value	Type
internal_repeat_1	1	40	1.58e-10	PROSPERO
transmembrane domain	53	72	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC
internal_repeat_1	117	176	1.58e-10	PROSPERO
transmembrane domain	199	221	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099051

SMART Domains

Protein: ENSMUSP00000096650
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	2	38	6.22e-5	PROSPERO
transmembrane domain	58	80	N/A	INTRINSIC
transmembrane domain	90	109	N/A	INTRINSIC
internal_repeat_1	118	174	6.22e-5	PROSPERO
transmembrane domain	185	207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177601

SMART Domains

Protein: ENSMUSP00000136755
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_2	1	24	2.26e-6	PROSPERO
internal_repeat_1	2	37	2.26e-6	PROSPERO
internal_repeat_1	40	95	2.26e-6	PROSPERO
internal_repeat_2	118	142	2.26e-6	PROSPERO
low complexity region	147	159	N/A	INTRINSIC
low complexity region	169	183	N/A	INTRINSIC
transmembrane domain	186	208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177875

SMART Domains

Protein: ENSMUSP00000137419
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	1	49	1.49e-11	PROSPERO
transmembrane domain	68	90	N/A	INTRINSIC
internal_repeat_1	118	186	1.49e-11	PROSPERO
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179272

SMART Domains

Protein: ENSMUSP00000136170
Gene: ENSMUSG00000095547

Domain	Start	End	E-Value	Type
internal_repeat_1	1	49	2.1e-10	PROSPERO
transmembrane domain	74	96	N/A	INTRINSIC
internal_repeat_1	118	186	2.1e-10	PROSPERO
transmembrane domain	198	217	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181572

Predicted Effect

probably benign
Transcript: ENSMUST00000179982

SMART Domains

Protein: ENSMUSP00000136365
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	1	35	7.76e-13	PROSPERO
transmembrane domain	67	89	N/A	INTRINSIC
internal_repeat_1	117	152	7.76e-13	PROSPERO
low complexity region	157	169	N/A	INTRINSIC
transmembrane domain	198	220	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	C	11: 105,859,770 (GRCm39)	V101A	probably benign	Het
Ano5	A	T	7: 51,216,048 (GRCm39)	I342F	probably benign	Het
Arhgef10	C	A	8: 15,012,577 (GRCm39)	Y300*	probably null	Het
Caps2	A	G	10: 112,018,965 (GRCm39)	D210G	probably damaging	Het
Ccdc125	T	C	13: 100,823,610 (GRCm39)		probably benign	Het
Colgalt1	T	A	8: 72,070,318 (GRCm39)	M200K	probably damaging	Het
Dzank1	G	T	2: 144,318,074 (GRCm39)		probably null	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Ist1	T	C	8: 110,410,400 (GRCm39)		probably benign	Het
Or13d1	A	G	4: 52,970,974 (GRCm39)	M118V	probably damaging	Het
Pcm1	T	A	8: 41,710,993 (GRCm39)	Y88N	probably damaging	Het
Pikfyve	G	A	1: 65,262,799 (GRCm39)	D497N	probably damaging	Het
Pkd1	T	C	17: 24,804,789 (GRCm39)	V3171A	possibly damaging	Het
Slc22a18	T	A	7: 143,033,053 (GRCm39)	V47D	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Swap70	A	T	7: 109,879,841 (GRCm39)	H541L	probably damaging	Het
Tmx3	G	A	18: 90,546,045 (GRCm39)	D209N	probably benign	Het
Tubgcp4	A	G	2: 121,015,228 (GRCm39)	H312R	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r97	A	T	17: 19,149,286 (GRCm39)	K225*	probably null	Het

Other mutations in Gm10718

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01865:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01867:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01868:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01869:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01870:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01871:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01874:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01877:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01878:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01879:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01880:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01881:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01883:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01884:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01885:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01886:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01887:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01890:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01891:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01894:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01895:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01896:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01897:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01898:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01901:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01903:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01904:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01905:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01908:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01909:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01910:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01912:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01917:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01918:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01919:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01920:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01924:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01925:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01926:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01928:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01929:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01932:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01933:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01934:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01937:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01938:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01941:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01944:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01945:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01946:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01947:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01949:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01950:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01951:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01952:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01953:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
IGL01958:Gm10718	APN	9	3,025,118 (GRCm39)	missense	probably benign	0.00
PIT4131001:Gm10718	UTSW	9	3,024,417 (GRCm39)	missense	probably benign	0.01
PIT4142001:Gm10718	UTSW	9	3,024,417 (GRCm39)	missense	probably benign	0.01
R4567:Gm10718	UTSW	9	3,023,716 (GRCm39)	missense	probably benign	0.01
R4850:Gm10718	UTSW	9	3,023,716 (GRCm39)	missense	probably benign	0.01
RF039:Gm10718	UTSW	9	3,024,385 (GRCm39)	frame shift	probably null

Posted On

2015-04-16