Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02592:Gm10717'

299770

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 #

IGL02592

Quality Score

Status

Chromosome

Chromosomal Location

3025417-3033289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3026287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 195 (Y195F)

Ref Sequence

ENSEMBL: ENSMUSP00000096644 (fasta)

Gene Model

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

AlphaFold

D3Z1I8

Predicted Effect

probably damaging
Transcript: ENSMUST00000075573
AA Change: Y195F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096644
Gene: ENSMUSG00000095891
AA Change: Y195F

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
AA Change: T45S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000136755
Gene: ENSMUSG00000095891
AA Change: T45S

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: 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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadps	G	A	14: 12,473,465 (GRCm38)	R899C	probably damaging	Het
Cass4	T	C	2: 172,258,248 (GRCm39)	L82P	probably benign	Het
Cd53	C	A	3: 106,670,601 (GRCm39)	C144F	probably damaging	Het
Fancc	G	A	13: 63,508,011 (GRCm39)	R175W	probably damaging	Het
Gpr149	T	C	3: 62,511,231 (GRCm39)	D256G	possibly damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Lvrn	T	A	18: 46,983,658 (GRCm39)	C134S	probably damaging	Het
Mroh8	A	T	2: 157,058,889 (GRCm39)	Y926N	probably damaging	Het
Nfxl1	A	G	5: 72,671,572 (GRCm39)	S896P	probably benign	Het
Orc4	A	T	2: 48,823,090 (GRCm39)		probably null	Het
Pcsk6	T	A	7: 65,618,776 (GRCm39)	H447Q	probably damaging	Het
Rfx6	C	A	10: 51,592,119 (GRCm39)	Q121K	probably damaging	Het
Rnase6	T	C	14: 51,367,982 (GRCm39)	Y125H	probably benign	Het
Sbno1	A	T	5: 124,538,872 (GRCm39)	Y494N	probably damaging	Het
Sppl3	G	A	5: 115,233,970 (GRCm39)	V347M	probably damaging	Het
Tlr12	G	A	4: 128,511,479 (GRCm39)	T257M	probably benign	Het
Tmem132e	A	T	11: 82,325,462 (GRCm39)	D154V	probably damaging	Het
Zfp345	A	G	2: 150,315,229 (GRCm39)	Y103H	probably benign	Het
Zfp947	T	A	17: 22,365,233 (GRCm39)	Q147L	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
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
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