Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01912:Gm10718'

279088

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: 0.537) question?

Stock #

IGL01912

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	T	7: 45,769,934 (GRCm39)	D860E	probably damaging	Het
Actl11	C	A	9: 107,806,844 (GRCm39)	P389Q	probably damaging	Het
Bsg	G	T	10: 79,545,974 (GRCm39)	G103W	probably null	Het
Camk2d	T	A	3: 126,604,281 (GRCm39)		probably null	Het
Clcn7	T	C	17: 25,371,983 (GRCm39)		probably benign	Het
Dctd	C	T	8: 48,564,697 (GRCm39)		probably benign	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Esyt2	T	C	12: 116,303,229 (GRCm39)	I289T	probably damaging	Het
Exoc6b	A	C	6: 84,602,156 (GRCm39)	C753G	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm3633	T	C	14: 42,462,743 (GRCm39)		probably benign	Het
Hrh3	A	T	2: 179,743,169 (GRCm39)	V153D	probably damaging	Het
Krt77	T	A	15: 101,772,286 (GRCm39)		probably benign	Het
Nat3	T	A	8: 68,000,398 (GRCm39)	C92*	probably null	Het
Nckap1l	T	A	15: 103,382,573 (GRCm39)	L525M	probably benign	Het
Nrp2	T	A	1: 62,810,896 (GRCm39)	C646S	probably damaging	Het
Or10a3m	T	C	7: 108,313,465 (GRCm39)	Y290H	possibly damaging	Het
Or2ag16	T	A	7: 106,352,199 (GRCm39)	Y132F	probably damaging	Het
Or52n20	T	C	7: 104,320,440 (GRCm39)	I177T	possibly damaging	Het
Orc1	T	C	4: 108,447,941 (GRCm39)	Y63H	probably damaging	Het
Otud4	T	C	8: 80,400,466 (GRCm39)	V1059A	probably benign	Het
Ptprm	A	G	17: 67,353,113 (GRCm39)	V235A	probably benign	Het
Rab3ip	G	T	10: 116,742,997 (GRCm39)	Q443K	probably benign	Het
Tnc	C	A	4: 63,926,977 (GRCm39)	D850Y	probably damaging	Het
Ubxn2b	T	A	4: 6,203,767 (GRCm39)		probably null	Het
Vmn1r233	T	A	17: 21,214,467 (GRCm39)	Y161F	probably benign	Het
Vmn1r54	T	C	6: 90,246,442 (GRCm39)	S119P	probably damaging	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
IGL01888: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
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