Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01864:Gm10717'

278939

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: 0.810) question?

Stock #

IGL01864

Quality Score

Status

Chromosome

Chromosomal Location

3025417-3033289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3025616 bp (GRCm39)

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

noncoding transcript
Transcript: ENSMUST00000181572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181957

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc40	A	G	11: 119,133,911 (GRCm39)	N630S	probably benign	Het
Cd180	A	T	13: 102,842,541 (GRCm39)	H529L	possibly damaging	Het
Cntnap5c	T	C	17: 58,717,237 (GRCm39)	M1273T	probably benign	Het
Helz	C	T	11: 107,493,180 (GRCm39)	S201L	probably damaging	Het
Ifi207	T	C	1: 173,564,007 (GRCm39)	E4G	possibly damaging	Het
Ints3	T	C	3: 90,322,486 (GRCm39)	T165A	probably benign	Het
Itgax	T	A	7: 127,732,935 (GRCm39)	D271E	probably benign	Het
Mei1	T	C	15: 81,997,218 (GRCm39)		probably benign	Het
Or4g16	T	A	2: 111,137,400 (GRCm39)	N283K	probably damaging	Het
Or52ab2	T	A	7: 102,970,541 (GRCm39)	F308I	probably benign	Het
Prdm4	T	C	10: 85,729,100 (GRCm39)	D762G	probably benign	Het
Psg19	T	A	7: 18,528,077 (GRCm39)	Y222F	probably benign	Het
Rflna	A	G	5: 125,087,511 (GRCm39)	I83V	possibly damaging	Het
Suclg1	T	C	6: 73,241,280 (GRCm39)		probably benign	Het
Usp48	G	A	4: 137,366,538 (GRCm39)	E130K	possibly damaging	Het
Vmn2r109	T	A	17: 20,761,396 (GRCm39)	T654S	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Gm10717

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01635:Gm10717	APN	9	3,025,506 (GRCm39)	missense	possibly damaging	0.46
IGL01635:Gm10717	APN	9	3,025,511 (GRCm39)	missense	probably damaging	1.00
IGL01865:Gm10717	APN	9	3,026,287 (GRCm39)	missense	probably damaging	0.98
IGL01865:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01866:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01873:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01875:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01877:Gm10717	APN	9	3,026,287 (GRCm39)	missense	probably damaging	0.98
IGL01877:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01878:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01879:Gm10717	APN	9	3,026,287 (GRCm39)	missense	probably damaging	0.98
IGL01880:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01882:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01886:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01887:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01892:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01893:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01897:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01901:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01903:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01904:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01907:Gm10717	APN	9	3,026,287 (GRCm39)	missense	probably damaging	0.98
IGL01907:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01908:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01913:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01919:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01920:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01923:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01925:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01927:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01930:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01931:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01932:Gm10717	APN	9	3,026,287 (GRCm39)	missense	probably damaging	0.98
IGL01935:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01941:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01948:Gm10717	APN	9	3,025,819 (GRCm39)	missense	probably damaging	1.00
IGL01949:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01951:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL01952:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL02106:Gm10717	APN	9	3,026,287 (GRCm39)	missense	probably damaging	0.98
IGL02142:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
IGL02592:Gm10717	APN	9	3,026,287 (GRCm39)	missense	probably damaging	0.98
IGL02609:Gm10717	APN	9	3,026,287 (GRCm39)	missense	probably damaging	0.98
IGL02802:Gm10717	UTSW	9	3,031,999 (GRCm39)	missense	probably benign
R0277:Gm10717	UTSW	9	3,025,619 (GRCm39)	missense	possibly damaging	0.79
R1813:Gm10717	UTSW	9	3,026,317 (GRCm39)	missense	probably damaging	1.00
R1911:Gm10717	UTSW	9	3,026,317 (GRCm39)	missense	probably damaging	1.00
R2399:Gm10717	UTSW	9	3,025,532 (GRCm39)	missense	probably benign
R2874:Gm10717	UTSW	9	3,025,532 (GRCm39)	missense	probably benign
R3617:Gm10717	UTSW	9	3,025,532 (GRCm39)	missense	probably benign
R3720:Gm10717	UTSW	9	3,025,532 (GRCm39)	missense	probably benign
R4988:Gm10717	UTSW	9	3,026,368 (GRCm39)	missense	probably benign	0.00
R5002:Gm10717	UTSW	9	3,025,532 (GRCm39)	missense	probably benign
R5117:Gm10717	UTSW	9	3,025,625 (GRCm39)	missense	probably benign	0.00
R5367:Gm10717	UTSW	9	3,026,317 (GRCm39)	missense	probably damaging	1.00
R5539:Gm10717	UTSW	9	3,030,438 (GRCm39)	missense	probably damaging	1.00
R5623:Gm10717	UTSW	9	3,026,318 (GRCm39)	missense	probably benign

Posted On

2015-04-16