Mutagenetix > Incidental Mutation

Incidental Mutation 'R1403:Gm17535'

160448

Institutional Source

Beutler Lab

Gene Symbol

Gm17535

Ensembl Gene

ENSMUSG00000096736

Gene Name

predicted gene, 17535

Synonyms

MMRRC Submission

039465-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R1403 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

3034599-3035805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3035804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 224 (Y224C)

Ref Sequence

ENSEMBL: ENSMUSP00000135988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099042] [ENSMUST00000099051] [ENSMUST00000099056] [ENSMUST00000155807] [ENSMUST00000177969] [ENSMUST00000178641] [ENSMUST00000179264] [ENSMUST00000179839]

AlphaFold

J3KMR8

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: 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: ENSMUST00000099056

SMART Domains

Protein: ENSMUSP00000096655
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	1	50	9.96e-8	PROSPERO
transmembrane domain	67	89	N/A	INTRINSIC
internal_repeat_1	117	223	9.96e-8	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000155807

SMART Domains

Protein: ENSMUSP00000136448
Gene: ENSMUSG00000096201

Domain	Start	End	E-Value	Type
internal_repeat_1	1	48	2.67e-7	PROSPERO
transmembrane domain	77	99	N/A	INTRINSIC
internal_repeat_1	117	165	2.67e-7	PROSPERO
transmembrane domain	186	208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177969

SMART Domains

Protein: ENSMUSP00000137129
Gene: ENSMUSG00000096201

Domain	Start	End	E-Value	Type
internal_repeat_1	1	49	2.44e-6	PROSPERO
transmembrane domain	69	91	N/A	INTRINSIC
internal_repeat_1	117	185	2.44e-6	PROSPERO
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000178641
AA Change: Y224C

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135988
Gene: ENSMUSG00000096736
AA Change: Y224C

Domain	Start	End	E-Value	Type
internal_repeat_1	1	49	1.86e-5	PROSPERO
transmembrane domain	67	89	N/A	INTRINSIC
internal_repeat_1	117	185	1.86e-5	PROSPERO
transmembrane domain	196	218	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

noncoding transcript
Transcript: ENSMUST00000181957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195989

Predicted Effect

probably benign
Transcript: ENSMUST00000179839

SMART Domains

Protein: ENSMUSP00000136837
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	1	46	1.07e-7	PROSPERO
transmembrane domain	67	89	N/A	INTRINSIC
internal_repeat_1	117	182	1.07e-7	PROSPERO
transmembrane domain	197	219	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 97.5%
10x: 88.5%
20x: 65.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	G	T	11: 94,453,700 (GRCm39)	N420K	probably benign	Het
Adam26a	A	T	8: 44,022,229 (GRCm39)	C420*	probably null	Het
Afap1l1	T	C	18: 61,874,909 (GRCm39)	Y424C	probably damaging	Het
Agl	A	G	3: 116,576,246 (GRCm39)	V553A	probably benign	Het
Akr7a5	T	A	4: 139,045,434 (GRCm39)	M325K	probably damaging	Het
Aldh7a1	C	A	18: 56,692,341 (GRCm39)	E87*	probably null	Het
Arhgap29	A	G	3: 121,767,578 (GRCm39)	K7E	probably damaging	Het
Brca2	T	A	5: 150,466,114 (GRCm39)	D1959E	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chil5	G	T	3: 105,925,409 (GRCm39)	Q171K	probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dhrs7c	A	T	11: 67,702,476 (GRCm39)	I155F	probably damaging	Het
Dip2c	A	G	13: 9,603,300 (GRCm39)		probably null	Het
Fam124b	T	C	1: 80,191,056 (GRCm39)	Y109C	possibly damaging	Het
Gak	T	A	5: 108,739,011 (GRCm39)	K156M	probably damaging	Het
Got1l1	C	G	8: 27,690,745 (GRCm39)		probably null	Het
Grm1	T	C	10: 10,955,879 (GRCm39)	D135G	probably benign	Het
Hrh3	T	G	2: 179,744,547 (GRCm39)	D131A	probably damaging	Het
Hspg2	C	T	4: 137,267,411 (GRCm39)	L2042F	possibly damaging	Het
Itpr1	A	T	6: 108,366,514 (GRCm39)	Q979L	probably null	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Lingo2	A	T	4: 35,709,420 (GRCm39)	C187S	possibly damaging	Het
Lrp1	T	A	10: 127,417,760 (GRCm39)		probably null	Het
Ltbp4	T	C	7: 27,028,464 (GRCm39)	N266S	unknown	Het
Mgam	G	A	6: 40,643,815 (GRCm39)	S581N	possibly damaging	Het
Mrgpra9	T	A	7: 46,885,386 (GRCm39)	I94L	probably benign	Het
Msantd4	A	T	9: 4,384,023 (GRCm39)	I115F	probably benign	Het
Nrxn1	A	C	17: 90,950,481 (GRCm39)	L566R	probably benign	Het
Or5p59	T	A	7: 107,702,822 (GRCm39)	I102N	probably benign	Het
Prl7d1	A	T	13: 27,893,180 (GRCm39)	F243I	possibly damaging	Het
Rbm27	T	C	18: 42,450,746 (GRCm39)	S509P	probably damaging	Het
Rnf44	C	T	13: 54,829,821 (GRCm39)	E306K	probably damaging	Het
Rp1	T	C	1: 4,416,520 (GRCm39)	R1531G	possibly damaging	Het
Sf3b4	A	G	3: 96,080,953 (GRCm39)		probably null	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Sp110	T	G	1: 85,506,800 (GRCm39)	E421A	probably benign	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Vcan	T	A	13: 89,836,603 (GRCm39)	E2980D	probably benign	Het
Vwa2	C	T	19: 56,869,570 (GRCm39)	P2S	unknown	Het
Wdr77	G	A	3: 105,874,573 (GRCm39)	V322I	possibly damaging	Het
Zfp12	C	A	5: 143,230,535 (GRCm39)	Y287*	probably null	Het
Zfp937	T	A	2: 150,080,868 (GRCm39)	Y299*	probably null	Het

Other mutations in Gm17535

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Gm17535	APN	9	3,035,111 (GRCm39)	missense	probably benign
R0153:Gm17535	UTSW	9	3,035,786 (GRCm39)	missense	probably benign
R0646:Gm17535	UTSW	9	3,035,804 (GRCm39)	missense	probably null	0.86
R1286:Gm17535	UTSW	9	3,035,786 (GRCm39)	missense	probably benign
R1404:Gm17535	UTSW	9	3,035,804 (GRCm39)	missense	probably null	0.86
R1406:Gm17535	UTSW	9	3,035,804 (GRCm39)	missense	probably null	0.86
R1422:Gm17535	UTSW	9	3,035,804 (GRCm39)	missense	probably null	0.86
R4827:Gm17535	UTSW	9	3,035,786 (GRCm39)	missense	probably benign
R5039:Gm17535	UTSW	9	3,035,786 (GRCm39)	missense	probably benign
R5802:Gm17535	UTSW	9	3,035,758 (GRCm39)	missense	probably benign	0.36

Predicted Primers

Posted On

2014-03-14