Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01895:Gm10718'

279032

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: 0.602) question?

Stock #

IGL01895

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,229,107	V2279E	possibly damaging	Het
Abcc6	A	T	7: 46,029,058	I56N	possibly damaging	Het
Akr1c13	A	T	13: 4,205,373	E321V	possibly damaging	Het
Atp8b3	A	T	10: 80,521,828	V1119D	possibly damaging	Het
Cacna1e	G	T	1: 154,443,900	F1351L	probably damaging	Het
Cadps2	A	G	6: 23,427,275	W585R	probably damaging	Het
Ccdc113	C	T	8: 95,536,458		probably benign	Het
Ccer1	A	T	10: 97,694,050	I192F	unknown	Het
Chd8	T	C	14: 52,199,094	N90S	probably benign	Het
Clca3a1	A	T	3: 144,747,572	C463*	probably null	Het
Cyp2c65	T	A	19: 39,072,232	C179S	possibly damaging	Het
Dennd4b	A	G	3: 90,275,567	Q35R	probably benign	Het
Enpep	T	C	3: 129,270,334	E928G	possibly damaging	Het
Fem1c	T	C	18: 46,505,562	T458A	probably benign	Het
Fezf2	A	T	14: 12,342,498	*456R	probably null	Het
Gm14085	A	C	2: 122,525,091	Y588S	possibly damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Iqcm	T	G	8: 75,888,560	L423R	probably damaging	Het
Kcnc4	C	A	3: 107,448,218	V305L	probably benign	Het
Kif1a	G	A	1: 93,025,733	T1337I	possibly damaging	Het
Lpxn	A	G	19: 12,833,086	D298G	probably damaging	Het
Lypd8	A	G	11: 58,390,220	T203A	possibly damaging	Het
Mrps28	C	T	3: 8,900,059	V107M	probably damaging	Het
Myo15b	A	G	11: 115,883,498	E586G	possibly damaging	Het
Pdzk1	C	T	3: 96,869,101	A459V	possibly damaging	Het
Rbpj	A	G	5: 53,651,386	D285G	probably damaging	Het
Rimbp3	T	C	16: 17,211,436	L908P	probably damaging	Het
Samd4b	T	C	7: 28,401,909		probably null	Het
Stau2	C	T	1: 16,345,937	G401S	probably damaging	Het
Trpa1	A	T	1: 14,887,643	I697K	possibly damaging	Het
Ttc17	A	C	2: 94,375,146	V285G	possibly damaging	Het
Unc5b	A	G	10: 60,767,085	F845S	probably damaging	Het
Vmn1r19	A	T	6: 57,405,260	Q266L	probably benign	Het
Vmn2r106	T	C	17: 20,278,965	N228S	probably benign	Het
Vps13d	A	G	4: 145,156,266	F919S	possibly damaging	Het
Zbtb38	C	T	9: 96,688,408	V208I	probably benign	Het
Zfp990	A	T	4: 145,536,857	T142S	probably damaging	Het
Zfp990	C	A	4: 145,536,858	T142N	probably damaging	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
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