Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01890:Gm10718'

279015

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: 0.617) question?

Stock #

IGL01890

Quality Score

Status

Chromosome

Chromosomal Location

3023547-3025218 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3025118 bp (GRCm38)

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181957

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	T	12: 80,184,868	V265E	probably damaging	Het
Anks1b	A	G	10: 90,644,527	I865V	probably benign	Het
Car5a	G	A	8: 121,923,610	A182V	probably benign	Het
Ccdc47	A	G	11: 106,205,451	V249A	probably damaging	Het
Cyb561d2	A	G	9: 107,541,523	V34A	probably damaging	Het
Dmbt1	A	G	7: 131,074,419		probably benign	Het
Entpd6	G	A	2: 150,770,692	D445N	possibly damaging	Het
Fastkd2	A	G	1: 63,732,161	I225M	probably benign	Het
Flcn	A	G	11: 59,795,170	V424A	probably benign	Het
Gpn3	A	G	5: 122,381,265	M176V	probably benign	Het
Igkv12-38	C	T	6: 69,943,405	C43Y	probably damaging	Het
Oas1h	A	G	5: 120,862,789		probably null	Het
Rexo1	A	T	10: 80,543,011	Y1064N	possibly damaging	Het
Skint1	G	A	4: 112,010,681	G2R	probably damaging	Het
Slc4a9	G	A	18: 36,529,707	A172T	possibly damaging	Het
Synpo2	A	G	3: 123,112,497	S727P	probably damaging	Het
Tmem131	A	T	1: 36,823,156		probably benign	Het
Trpm3	G	T	19: 22,711,719	R4L	probably damaging	Het
Upf1	A	T	8: 70,334,230	V879E	possibly damaging	Het
Vmn1r194	A	T	13: 22,244,606	Y131F	probably benign	Het
Vmn2r95	T	A	17: 18,451,475	N491K	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Gm10718

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01865:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01867:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01868:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01869:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01870:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01871:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01874:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01877:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01878:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01879:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01880:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01881:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01883:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01884:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01885:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01886:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01887:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01888:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01891:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01894:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01895:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01896:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01897:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01898:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01901:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01903:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01904:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01905:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01908:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01909:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01910:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01912:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01917:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01918:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01919:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01920:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01924:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01925:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01926:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01928:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01929:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01932:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01933:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01934:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01937:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01938:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01941:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01944:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01945:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01946:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01947:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01949:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01950:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01951:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01952:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01953:Gm10718	APN	9	3025118	missense	probably benign	0.00
IGL01958:Gm10718	APN	9	3025118	missense	probably benign	0.00
PIT4131001:Gm10718	UTSW	9	3024417	missense	probably benign	0.01
PIT4142001:Gm10718	UTSW	9	3024417	missense	probably benign	0.01
R4567:Gm10718	UTSW	9	3023716	missense	probably benign	0.01
R4850:Gm10718	UTSW	9	3023716	missense	probably benign	0.01
RF039:Gm10718	UTSW	9	3024385	frame shift	probably null

Posted On

2015-04-16