Mutagenetix > Incidental Mutation

Incidental Mutation 'R5838:Setd5'

449719

Institutional Source

Beutler Lab

Gene Symbol

Setd5

Ensembl Gene

ENSMUSG00000034269

Gene Name

SET domain containing 5

Synonyms

2900045N06Rik

MMRRC Submission

044058-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113077365-113153435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113119435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 534 (V534A)

Ref Sequence

ENSEMBL: ENSMUSP00000108782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042889] [ENSMUST00000113155] [ENSMUST00000113157]

AlphaFold

Q5XJV7

Predicted Effect

probably benign
Transcript: ENSMUST00000042889
AA Change: V515A

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: V515A

Domain	Start	End	E-Value	Type
low complexity region	165	180	N/A	INTRINSIC
SET	272	396	1.09e-23	SMART
low complexity region	417	429	N/A	INTRINSIC
low complexity region	436	451	N/A	INTRINSIC
low complexity region	476	495	N/A	INTRINSIC
low complexity region	539	552	N/A	INTRINSIC
low complexity region	561	572	N/A	INTRINSIC
low complexity region	600	621	N/A	INTRINSIC
low complexity region	635	650	N/A	INTRINSIC
low complexity region	850	866	N/A	INTRINSIC
low complexity region	1082	1107	N/A	INTRINSIC
low complexity region	1122	1138	N/A	INTRINSIC
low complexity region	1250	1259	N/A	INTRINSIC
low complexity region	1283	1301	N/A	INTRINSIC
low complexity region	1335	1346	N/A	INTRINSIC
low complexity region	1352	1372	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113155
AA Change: V534A

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: V534A

Domain	Start	End	E-Value	Type
low complexity region	65	76	N/A	INTRINSIC
low complexity region	184	199	N/A	INTRINSIC
SET	291	415	1.09e-23	SMART
low complexity region	436	448	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
low complexity region	558	571	N/A	INTRINSIC
low complexity region	580	591	N/A	INTRINSIC
low complexity region	619	640	N/A	INTRINSIC
low complexity region	654	669	N/A	INTRINSIC
low complexity region	869	885	N/A	INTRINSIC
low complexity region	1101	1126	N/A	INTRINSIC
low complexity region	1141	1157	N/A	INTRINSIC
low complexity region	1269	1278	N/A	INTRINSIC
low complexity region	1302	1320	N/A	INTRINSIC
low complexity region	1354	1365	N/A	INTRINSIC
low complexity region	1371	1391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113157
AA Change: V534A

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: V534A

Domain	Start	End	E-Value	Type
low complexity region	65	76	N/A	INTRINSIC
low complexity region	184	199	N/A	INTRINSIC
SET	291	415	1.09e-23	SMART
low complexity region	436	448	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
low complexity region	558	571	N/A	INTRINSIC
low complexity region	580	591	N/A	INTRINSIC
low complexity region	619	640	N/A	INTRINSIC
low complexity region	654	669	N/A	INTRINSIC
low complexity region	869	885	N/A	INTRINSIC
low complexity region	1101	1126	N/A	INTRINSIC
low complexity region	1141	1157	N/A	INTRINSIC
low complexity region	1269	1278	N/A	INTRINSIC
low complexity region	1302	1320	N/A	INTRINSIC
low complexity region	1354	1365	N/A	INTRINSIC
low complexity region	1371	1391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141072
AA Change: V757A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142215
AA Change: V592A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153513

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This function of this gene has yet to be determined but mutations in this gene have been associated with autosomal dominant mental retardation-23. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,972,880	V385I	probably benign	Het
Apmap	T	C	2: 150,585,857	Y315C	probably damaging	Het
Arhgef12	G	A	9: 43,005,608	T414I	probably damaging	Het
Cd200r1	C	A	16: 44,766,034	A9D	possibly damaging	Het
Cdkal1	T	C	13: 29,691,686	D183G	probably benign	Het
Clk1	C	A	1: 58,412,660	C432F	probably damaging	Het
Col27a1	G	T	4: 63,225,528	L484F	probably damaging	Het
Col7a1	A	G	9: 108,978,143	E2480G	unknown	Het
D430042O09Rik	A	T	7: 125,867,655	M1361L	possibly damaging	Het
Dnah5	A	G	15: 28,290,195	I1244V	probably benign	Het
Dock3	G	T	9: 106,895,488	P522Q	possibly damaging	Het
Drc1	T	A	5: 30,366,513		probably null	Het
Epas1	C	T	17: 86,823,686	T298I	possibly damaging	Het
Epha1	A	T	6: 42,361,646	I699N	probably damaging	Het
Ephb3	T	C	16: 21,221,687	S558P	probably damaging	Het
Epn1	T	A	7: 5,097,166	L426*	probably null	Het
Fam234b	T	C	6: 135,225,267	V329A	probably benign	Het
Fasn	G	T	11: 120,816,124	R901S	probably damaging	Het
Fbln2	T	C	6: 91,271,848	M1165T	possibly damaging	Het
Fer1l4	T	C	2: 156,051,993	R103G	probably benign	Het
G6pd2	T	A	5: 61,809,225	D114E	probably benign	Het
Galnt10	A	G	11: 57,781,056	K391E	probably damaging	Het
Gpr150	C	A	13: 76,055,926	C300F	probably benign	Het
Hhipl2	A	G	1: 183,423,571	T151A	probably damaging	Het
Hmcn2	C	A	2: 31,457,807	L4822M	probably damaging	Het
Ifi207	T	A	1: 173,732,387	Q173L	unknown	Het
Inca1	T	C	11: 70,689,881	E86G	probably damaging	Het
Iqca	A	G	1: 90,144,945	L71P	probably benign	Het
Kank2	G	T	9: 21,795,393	Q110K	probably damaging	Het
Kif13b	A	T	14: 64,737,555	M407L	probably damaging	Het
Kif5a	A	C	10: 127,245,441	I208S	probably damaging	Het
Kmt2c	T	C	5: 25,284,471	K4490R	probably damaging	Het
Ltbp2	C	T	12: 84,789,101	R1352H	probably benign	Het
Macf1	T	C	4: 123,452,154	Q2061R	possibly damaging	Het
Marcks	A	G	10: 37,136,167	S291P	probably benign	Het
Mccc1	A	G	3: 35,985,082	V254A	possibly damaging	Het
Mdn1	C	T	4: 32,754,547	R4683W	probably damaging	Het
Mon2	A	G	10: 123,010,492		probably null	Het
Ndrg4	A	T	8: 95,706,793	H134L	probably damaging	Het
Nek7	C	A	1: 138,534,363		probably null	Het
Nlrc3	C	T	16: 3,953,995	S151N	probably damaging	Het
Nsl1	C	A	1: 191,070,113	A146E	probably benign	Het
Olfr1391	A	C	11: 49,327,933	N174T	probably damaging	Het
Olfr1477	T	A	19: 13,502,558	Y72N	probably damaging	Het
Olfr519	A	T	7: 108,894,085	F107L	probably benign	Het
Olfr655	A	G	7: 104,596,897	Y95H	probably benign	Het
Olfr800	A	T	10: 129,660,038	R77S	probably benign	Het
Pde4d	A	C	13: 109,740,442	S41R	probably damaging	Het
Phlpp1	T	A	1: 106,347,132	L875*	probably null	Het
Pkd1	T	A	17: 24,580,212	S2802T	possibly damaging	Het
Polr3b	A	G	10: 84,674,590	T500A	probably benign	Het
Ppp2r2c	T	C	5: 36,940,187	V239A	probably benign	Het
Pramef6	A	G	4: 143,896,920	V228A	probably benign	Het
Reln	T	A	5: 21,899,113	I3287F	probably damaging	Het
Scube2	T	C	7: 109,808,444	D763G	probably damaging	Het
Slc10a4	T	A	5: 73,012,030	C333S	probably benign	Het
Slc15a1	G	A	14: 121,484,871	A206V	probably damaging	Het
Snx14	A	G	9: 88,391,776	L654P	probably damaging	Het
Sowahc	G	A	10: 59,223,190	A383T	possibly damaging	Het
Taf1b	A	G	12: 24,500,449	D11G	possibly damaging	Het
Tap1	C	T	17: 34,193,305	Q164*	probably null	Het
Tbcel	T	A	9: 42,415,872	R430W	probably damaging	Het
Trappc11	A	T	8: 47,512,559		probably null	Het
Trim15	T	C	17: 36,862,840	I259V	probably damaging	Het
Trpt1	T	C	19: 6,998,300	S141P	probably damaging	Het
Tsc2	T	A	17: 24,613,216	Q732L	probably benign	Het
Tstd3	C	A	4: 21,759,622		probably null	Het
Unc13d	T	C	11: 116,064,625	K914R	possibly damaging	Het
Unk	A	G	11: 116,049,331	E170G	probably damaging	Het
Uqcc2	T	A	17: 27,125,886	K62*	probably null	Het
Vim	A	G	2: 13,580,190	D394G	probably damaging	Het
Wdr47	G	A	3: 108,624,736		probably null	Het

Other mutations in Setd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Setd5	APN	6	113111414	missense	probably damaging	1.00
IGL02102:Setd5	APN	6	113150985	nonsense	probably null
IGL02105:Setd5	APN	6	113117580	missense	probably damaging	1.00
IGL02202:Setd5	APN	6	113151015	missense	probably benign	0.01
IGL02221:Setd5	APN	6	113121170	splice site	probably benign
IGL02382:Setd5	APN	6	113143640	missense	probably benign
IGL02394:Setd5	APN	6	113110898	missense	probably benign	0.00
IGL02442:Setd5	APN	6	113110380	missense	possibly damaging	0.93
IGL02480:Setd5	APN	6	113143809	missense	probably damaging	1.00
IGL02940:Setd5	APN	6	113114938	missense	possibly damaging	0.92
R0320:Setd5	UTSW	6	113111481	missense	probably damaging	1.00
R0479:Setd5	UTSW	6	113115033	missense	probably damaging	1.00
R0514:Setd5	UTSW	6	113119437	nonsense	probably null
R1528:Setd5	UTSW	6	113121738	missense	probably damaging	0.99
R1530:Setd5	UTSW	6	113109913	missense	probably damaging	1.00
R2176:Setd5	UTSW	6	113151153	missense	probably benign	0.23
R2191:Setd5	UTSW	6	113111429	nonsense	probably null
R2286:Setd5	UTSW	6	113119610	missense	possibly damaging	0.69
R4163:Setd5	UTSW	6	113119584	missense	probably benign
R4294:Setd5	UTSW	6	113111320	intron	probably benign
R4300:Setd5	UTSW	6	113150162	missense	probably damaging	1.00
R4342:Setd5	UTSW	6	113111320	intron	probably benign
R4370:Setd5	UTSW	6	113121805	missense	probably damaging	1.00
R4854:Setd5	UTSW	6	113151399	missense	probably damaging	1.00
R4858:Setd5	UTSW	6	113149566	missense	probably damaging	1.00
R5057:Setd5	UTSW	6	113137961	missense	probably damaging	0.96
R5345:Setd5	UTSW	6	113116007	missense	probably damaging	1.00
R5529:Setd5	UTSW	6	113121568	missense	probably damaging	1.00
R5556:Setd5	UTSW	6	113147502	missense	probably benign	0.00
R5582:Setd5	UTSW	6	113114925	missense	probably damaging	1.00
R5941:Setd5	UTSW	6	113128490	missense	probably damaging	1.00
R6009:Setd5	UTSW	6	113110519	missense	probably damaging	0.99
R6146:Setd5	UTSW	6	113121812	critical splice donor site	probably null
R6394:Setd5	UTSW	6	113115544	missense	probably damaging	1.00
R6694:Setd5	UTSW	6	113143708	missense	probably benign
R7058:Setd5	UTSW	6	113115571	missense	probably benign	0.16
R7060:Setd5	UTSW	6	113117382	missense	probably damaging	1.00
R7199:Setd5	UTSW	6	113121138	missense	probably benign	0.03
R7238:Setd5	UTSW	6	113121130	missense	probably damaging	1.00
R7296:Setd5	UTSW	6	113147557	missense	probably benign	0.21
R7438:Setd5	UTSW	6	113115082	missense	possibly damaging	0.74
R7515:Setd5	UTSW	6	113110889	missense	probably damaging	1.00
R7621:Setd5	UTSW	6	113144049	missense	possibly damaging	0.85
R7652:Setd5	UTSW	6	113121764	missense	probably damaging	1.00
R7986:Setd5	UTSW	6	113128457	missense	probably benign	0.00
R8083:Setd5	UTSW	6	113115010	missense	probably damaging	1.00
R8175:Setd5	UTSW	6	113114913	missense	probably damaging	1.00
R8252:Setd5	UTSW	6	113150955	missense	probably benign	0.01
R8268:Setd5	UTSW	6	113149690	critical splice donor site	probably null
R8271:Setd5	UTSW	6	113115070	missense	possibly damaging	0.58
R8424:Setd5	UTSW	6	113149683	missense	probably benign	0.12
R8508:Setd5	UTSW	6	113121087	missense	probably damaging	1.00
R8801:Setd5	UTSW	6	113150892	missense	possibly damaging	0.95
R8864:Setd5	UTSW	6	113111508	missense	probably damaging	1.00
R9227:Setd5	UTSW	6	113121794	missense	possibly damaging	0.92
R9522:Setd5	UTSW	6	113115034	missense	probably damaging	1.00
R9588:Setd5	UTSW	6	113144064	missense	probably damaging	1.00
X0017:Setd5	UTSW	6	113150168	missense	probably null	1.00
Z1176:Setd5	UTSW	6	113138096	missense	probably benign
Z1191:Setd5	UTSW	6	113114996	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACTAAAATGTGTTGAGGTAGCTCAC -3'
(R):5'- ACAGGGCTGCTAACTTCAGAC -3'

Sequencing Primer
(F):5'- GTTTAGTGATGCATATGCTATCT -3'
(R):5'- TGCTAACTTCAGACTCAGGGG -3'

Posted On

2016-12-20