Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01886:Gm10717'

279005

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10717

Ensembl Gene

ENSMUSG00000095891

Gene Name

predicted gene 10717

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.802) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

3025417-3033289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3025616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 67 (S67L)

Ref Sequence

ENSEMBL: ENSMUSP00000096644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075573] [ENSMUST00000099042] [ENSMUST00000099046] [ENSMUST00000099047] [ENSMUST00000099051] [ENSMUST00000177601] [ENSMUST00000177875] [ENSMUST00000179264] [ENSMUST00000179272] [ENSMUST00000179982]

AlphaFold

D3Z1I8

Predicted Effect

probably benign
Transcript: ENSMUST00000075573
AA Change: S67L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096644
Gene: ENSMUSG00000095891
AA Change: S67L

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: ENSMUST00000099042

SMART Domains

Protein: ENSMUSP00000096640
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	1	47	9.09e-8	PROSPERO
transmembrane domain	76	98	N/A	INTRINSIC
internal_repeat_1	117	164	9.09e-8	PROSPERO
transmembrane domain	195	217	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099046

SMART Domains

Protein: ENSMUSP00000096645
Gene: ENSMUSG00000095186

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: ENSMUST00000179264

SMART Domains

Protein: ENSMUSP00000137451
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	1	43	5.09e-6	PROSPERO
transmembrane domain	69	91	N/A	INTRINSIC
internal_repeat_1	117	179	5.09e-6	PROSPERO
transmembrane domain	196	218	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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,659,158	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,730,265	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613	N768K	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Clec7a	A	T	6: 129,463,177		probably benign	Het
Cyp3a13	G	A	5: 137,898,820	P411S	probably damaging	Het
Elavl2	A	G	4: 91,264,093	V129A	probably damaging	Het
Ercc6	T	A	14: 32,569,580	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262	K8I	probably damaging	Het
Esr1	T	A	10: 4,856,861	I259K	probably damaging	Het
Filip1l	A	G	16: 57,571,250	I734V	possibly damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814	I891F	probably damaging	Het
Kat7	T	C	11: 95,306,133	T27A	probably benign	Het
Kdm1a	A	G	4: 136,561,016		probably null	Het
Kifc5b	T	C	17: 26,932,117	V663A	probably damaging	Het
Lama1	T	G	17: 67,807,797	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984	V279I	probably benign	Het
Mast3	A	T	8: 70,782,139	L774Q	possibly damaging	Het
Med27	C	A	2: 29,413,482	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,169,090		probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	T	C	2: 52,183,845		probably benign	Het
Nlrp1a	T	C	11: 71,123,501	T308A	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,509	Y99C	probably damaging	Het
Olfr926	G	T	9: 38,877,548	C124F	probably damaging	Het
Orc1	T	A	4: 108,603,957		probably null	Het
Pnkp	G	A	7: 44,862,207	A76T	probably damaging	Het
Polr3h	T	C	15: 81,917,390	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,304,447	M62K	unknown	Het
Prpf8	C	A	11: 75,495,744	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,342,042	N778K	probably damaging	Het
Riok3	T	A	18: 12,139,385	N204K	probably damaging	Het
Shank3	A	G	15: 89,531,663	K650E	probably damaging	Het
Sim1	T	A	10: 50,984,315	S758T	probably damaging	Het
Slu7	T	G	11: 43,439,260	N171K	probably damaging	Het
Sult6b2	A	G	6: 142,790,126		probably null	Het
Taf6l	C	T	19: 8,778,086		probably null	Het
Ubtfl1	G	A	9: 18,409,721	V182M	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Gm10717

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01635:Gm10717	APN	9	3025511	missense	probably damaging	1.00
IGL01635:Gm10717	APN	9	3025506	missense	possibly damaging	0.46
IGL01864:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01865:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01865:Gm10717	APN	9	3026287	missense	probably damaging	0.98
IGL01866:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01873:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01875:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01877:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01877:Gm10717	APN	9	3026287	missense	probably damaging	0.98
IGL01878:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01879:Gm10717	APN	9	3026287	missense	probably damaging	0.98
IGL01880:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01882:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01887:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01892:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01893:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01897:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01901:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01903:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01904:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01907:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01907:Gm10717	APN	9	3026287	missense	probably damaging	0.98
IGL01908:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01913:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01919:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01920:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01923:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01925:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01927:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01930:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01931:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01932:Gm10717	APN	9	3026287	missense	probably damaging	0.98
IGL01935:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01941:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01948:Gm10717	APN	9	3025819	missense	probably damaging	1.00
IGL01949:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01951:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL01952:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL02106:Gm10717	APN	9	3026287	missense	probably damaging	0.98
IGL02142:Gm10717	APN	9	3025616	missense	probably benign	0.00
IGL02592:Gm10717	APN	9	3026287	missense	probably damaging	0.98
IGL02609:Gm10717	APN	9	3026287	missense	probably damaging	0.98
IGL02802:Gm10717	UTSW	9	3031999	missense	probably benign
R0277:Gm10717	UTSW	9	3025619	missense	possibly damaging	0.79
R1813:Gm10717	UTSW	9	3026317	missense	probably damaging	1.00
R1911:Gm10717	UTSW	9	3026317	missense	probably damaging	1.00
R2399:Gm10717	UTSW	9	3025532	missense	probably benign
R2874:Gm10717	UTSW	9	3025532	missense	probably benign
R3617:Gm10717	UTSW	9	3025532	missense	probably benign
R3720:Gm10717	UTSW	9	3025532	missense	probably benign
R4988:Gm10717	UTSW	9	3026368	missense	probably benign	0.00
R5002:Gm10717	UTSW	9	3025532	missense	probably benign
R5117:Gm10717	UTSW	9	3025625	missense	probably benign	0.00
R5367:Gm10717	UTSW	9	3026317	missense	probably damaging	1.00
R5539:Gm10717	UTSW	9	3030438	missense	probably damaging	1.00
R5623:Gm10717	UTSW	9	3026318	missense	probably benign

Posted On

2015-04-16