Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01948:Gm10717'

180978

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 #

IGL01948

Quality Score

Status

Chromosome

Chromosomal Location

3025417-3033289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3025819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 135 (T135S)

Ref Sequence

ENSEMBL: ENSMUSP00000096644 (fasta)

Gene Model

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

AlphaFold

D3Z1I8

Predicted Effect

probably damaging
Transcript: ENSMUST00000075573
AA Change: T135S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096644
Gene: ENSMUSG00000095891
AA Change: T135S

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: ENSMUST00000181957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181572

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	C	5: 3,627,326 (GRCm39)	F101L	probably damaging	Het
Cacna1d	T	C	14: 29,846,751 (GRCm39)	T552A	probably damaging	Het
Ccdc81	T	C	7: 89,525,063 (GRCm39)	D506G	possibly damaging	Het
Fam186b	T	C	15: 99,178,327 (GRCm39)	H333R	probably benign	Het
Fam222b	T	C	11: 78,045,165 (GRCm39)	V242A	probably damaging	Het
Gabra2	A	G	5: 71,119,228 (GRCm39)	F425L	probably damaging	Het
Gm8104	A	T	14: 42,966,607 (GRCm39)	M120L	probably benign	Het
Gsdmc	T	C	15: 63,650,430 (GRCm39)	D308G	probably damaging	Het
Hook3	T	A	8: 26,549,340 (GRCm39)	E168V	possibly damaging	Het
Ighv5-17	T	A	12: 113,823,046 (GRCm39)	E25V	probably damaging	Het
Imp4	T	G	1: 34,483,356 (GRCm39)		probably benign	Het
Ms4a5	A	C	19: 11,256,717 (GRCm39)	M60R	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Prokr2	G	T	2: 132,215,603 (GRCm39)	A286E	probably damaging	Het
Ranbp9	T	A	13: 43,576,029 (GRCm39)	Q226L	probably damaging	Het
Scara3	A	G	14: 66,168,261 (GRCm39)	V452A	probably damaging	Het
Tmem38b	C	T	4: 53,850,530 (GRCm39)	P171S	probably damaging	Het
Zdhhc17	G	T	10: 110,782,137 (GRCm39)	T519K	possibly damaging	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
IGL01864:Gm10717	APN	9	3,025,616 (GRCm39)	missense	probably benign	0.00
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
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

2014-05-07