Mutagenetix > Incidental Mutation

Incidental Mutation 'R8083:Setd5'

629464

Institutional Source

Beutler Lab

Gene Symbol

Setd5

Ensembl Gene

ENSMUSG00000034269

Gene Name

SET domain containing 5

Synonyms

2900045N06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113077365-113153435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 113115010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 264 (G264V)

Ref Sequence

ENSEMBL: ENSMUSP00000108780 (fasta)

Gene Model

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

AlphaFold

Q5XJV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042889
AA Change: G245V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: G245V

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 damaging
Transcript: ENSMUST00000113155
AA Change: G264V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: G264V

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 damaging
Transcript: ENSMUST00000113157
AA Change: G264V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: G264V

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

Meta Mutation Damage Score

0.1443

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.5%

Validation Efficiency

98% (51/52)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	G	2: 152,441,067	E255G	possibly damaging	Het
Abcg5	A	T	17: 84,658,543	L635Q	probably damaging	Het
Acsl3	G	A	1: 78,692,127	D238N	probably damaging	Het
Adam32	A	T	8: 24,872,736	C558S	probably damaging	Het
Adamtsl4	C	T	3: 95,684,401	V126M	possibly damaging	Het
Apobec1	G	A	6: 122,578,929	P190S	probably damaging	Het
Arel1	A	T	12: 84,940,362	H93Q	probably benign	Het
Bpifa2	T	G	2: 154,010,492	V96G	probably damaging	Het
Cacna1s	G	A	1: 136,095,791	V923I	possibly damaging	Het
Caprin2	A	C	6: 148,842,848	Y1026*	probably null	Het
Cdk8	T	G	5: 146,268,290	W34G	probably damaging	Het
Cdkn3	A	T	14: 46,762,601	Q28L	probably benign	Het
Cfap58	A	G	19: 47,983,518	E629G	probably damaging	Het
Chaf1b	T	A	16: 93,894,742	C255S	probably damaging	Het
Clcn4	A	G	7: 7,291,428	F445L	possibly damaging	Het
Cpne6	A	C	14: 55,513,241	I140L	probably benign	Het
Cyp2b23	C	A	7: 26,686,403	A10S	possibly damaging	Het
Eci3	G	T	13: 34,956,890	T103K	probably benign	Het
Eri3	T	A	4: 117,593,162	M253K	probably damaging	Het
Gm21103	C	T	14: 6,301,907	V169M	possibly damaging	Het
Gm35060	T	C	18: 32,458,754		probably null	Het
Gm6594	G	A	17: 82,539,468	A71T	probably benign	Het
Gns	T	C	10: 121,378,103	S228P	probably damaging	Het
Hbegf	A	T	18: 36,515,171	S46T	probably benign	Het
Hcn1	GCAACAACA	GCAACAACAACA	13: 117,975,760		probably benign	Het
Mcf2l	T	A	8: 13,007,875		probably null	Het
Nfasc	T	C	1: 132,596,582	D846G	probably benign	Het
Nt5dc2	A	G	14: 31,134,826	Y103C	probably damaging	Het
Osbpl9	C	T	4: 109,086,375	V147M	possibly damaging	Het
Pid1	T	C	1: 84,038,249	I146V	probably benign	Het
Rangap1	A	G	15: 81,718,900	I108T	probably benign	Het
Rbm12b1	T	C	4: 12,146,409	Y794H	probably damaging	Het
Rprd1b	T	C	2: 158,050,132	S192P	probably damaging	Het
Sacs	A	T	14: 61,210,717	D3404V	possibly damaging	Het
Tagln2	A	T	1: 172,505,199	I18F	possibly damaging	Het
Ttc17	C	A	2: 94,374,564	V338F	probably damaging	Het
Xirp2	T	A	2: 67,508,699	M428K	possibly damaging	Het
Zfp503	A	T	14: 21,986,064	D261E	probably damaging	Het
Zfp784	T	C	7: 5,035,906	T218A	possibly damaging	Het
Zp3	A	C	5: 135,984,522	D236A	probably damaging	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
R5838:Setd5	UTSW	6	113119435	missense	probably benign	0.40
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
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
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'- GAATTCTCCCTCGGAAGCAC -3'
(R):5'- ACATGTGCCTAGACAGTTTAGTTAC -3'

Sequencing Primer
(F):5'- TTCTCCCTCGGAAGCACAGAATTTAG -3'
(R):5'- ATCAGCAGGAAGGTAGTTCATTTG -3'

Posted On

2020-06-30