Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Gm10718'

279241

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 #

IGL01958

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	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
IGL01890: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
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