Mutagenetix > Incidental Mutation

Incidental Mutation 'R7652:Setd5'

590910

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 #

R7652 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113077365-113153435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113121764 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 786 (R786H)

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: R767H

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

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: R767H

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: R786H

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

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: R786H

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: R786H

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

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: R786H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (66/66)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,169,218		probably null	Het
Alb	G	C	5: 90,467,355	R242P	probably damaging	Het
Aph1b	T	C	9: 66,784,541	T195A	probably benign	Het
Apoe	G	T	7: 19,696,610	R236S	possibly damaging	Het
Arap3	G	T	18: 37,978,452	T1137K	probably damaging	Het
Arhgap45	C	T	10: 80,028,838	A908V	probably benign	Het
Atp13a1	T	C	8: 69,805,559	C965R	probably damaging	Het
C7	A	G	15: 5,012,105	Y440H	probably damaging	Het
Cacna2d2	T	C	9: 107,524,198		probably null	Het
Ddah2	C	A	17: 35,061,050	R173S	possibly damaging	Het
Dnajc11	T	C	4: 151,974,225	Y337H	probably damaging	Het
Dnajc25	A	G	4: 59,020,483	K302R	probably benign	Het
Dnajc6	A	T	4: 101,606,677	Q209L	probably damaging	Het
Drosha	G	A	15: 12,859,436	V577I	probably benign	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Ebf2	G	T	14: 67,390,567		probably null	Het
Epx	A	G	11: 87,875,334		probably null	Het
Eqtn	T	C	4: 94,928,337	Y73C	probably damaging	Het
Fam107b	A	G	2: 3,772,847	N21S	probably benign	Het
Fasn	G	A	11: 120,816,328	S857F	probably damaging	Het
Fat1	A	G	8: 44,953,299	N1029S	probably damaging	Het
Gas8	A	G	8: 123,526,536	I208V	probably benign	Het
Gm11127	A	T	17: 36,056,783	V221D	probably damaging	Het
Gm3269	T	C	14: 4,839,095	I88T	probably benign	Het
Gm36079	A	T	13: 120,026,993	S7T	possibly damaging	Het
Gm8005	C	A	14: 42,436,962	L136F		Het
Grid2ip	C	A	5: 143,382,638	P743Q	probably damaging	Het
Hbs1l	C	T	10: 21,364,760	T626I	probably benign	Het
Hdac3	T	A	18: 37,954,919		probably benign	Het
Hnrnpab	T	C	11: 51,605,573	Y94C	probably damaging	Het
Homer2	T	C	7: 81,649,666	D17G	probably damaging	Het
Ikbke	C	T	1: 131,271,832	R308Q	probably damaging	Het
Ints10	A	G	8: 68,825,119	T682A	possibly damaging	Het
Klhl3	G	A	13: 58,113,332		probably benign	Het
Klk9	A	T	7: 43,796,090	T235S	probably benign	Het
Kmt2c	T	C	5: 25,315,719	T1798A	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,281,056		probably benign	Het
Krtap4-6	T	C	11: 99,665,614	I96V	unknown	Het
Lef1	A	C	3: 131,200,354	R354S	probably damaging	Het
Lrp6	A	T	6: 134,511,245	L296*	probably null	Het
Maml2	T	C	9: 13,621,649	Y720H		Het
Mmrn1	A	G	6: 60,977,506	N924D	probably benign	Het
Myh7b	A	G	2: 155,632,236	K1624E	probably damaging	Het
Nos3	T	A	5: 24,383,612	V1112D	probably damaging	Het
Olfr1136	A	G	2: 87,693,360	I174T	probably damaging	Het
Olfr1216	C	T	2: 89,013,549	V172I	probably benign	Het
Olfr1384	T	C	11: 49,513,685	F16L	probably damaging	Het
Olfr1437	C	A	19: 12,322,287	C180F	probably damaging	Het
Olfr814	A	T	10: 129,874,477	N93K	probably damaging	Het
Phospho1	T	C	11: 95,830,819	L105S	probably damaging	Het
Prss35	T	A	9: 86,755,970	N264K	probably benign	Het
Ptpn13	A	G	5: 103,529,712	D732G	probably benign	Het
Rab18	A	T	18: 6,783,123	T64S	possibly damaging	Het
Rft1	A	G	14: 30,677,816	Q319R	probably benign	Het
Rgs7	T	A	1: 175,093,830	M220L	probably benign	Het
Rnf13	A	G	3: 57,764,351	N28S	probably benign	Het
Setd3	A	T	12: 108,112,289	I311N	probably damaging	Het
Slc26a6	T	C	9: 108,855,944		probably null	Het
Slc26a9	A	T	1: 131,763,896	T626S	probably benign	Het
Stambp	A	T	6: 83,563,928		probably null	Het
Stom	A	T	2: 35,316,029	N229K	probably benign	Het
Tlr1	A	T	5: 64,926,787	L149*	probably null	Het
Trpc3	C	A	3: 36,638,528	V772F	probably benign	Het
Ube3a	A	G	7: 59,243,354		probably benign	Het
Ugt2b35	T	A	5: 87,001,510	F207I	probably damaging	Het
Usp53	A	T	3: 122,953,235	D360E	possibly damaging	Het
Vmn2r96	T	G	17: 18,573,570	S59A	probably benign	Het
Wdr70	A	G	15: 8,079,216	C149R	probably benign	Het
Wnt3	A	G	11: 103,812,464	T258A	possibly damaging	Het
Zfp729b	T	C	13: 67,591,252	T965A	probably benign	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
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
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'- TGGCAGCTGTTACAAATGCAG -3'
(R):5'- CCAACTTGACCACAGTGACTTC -3'

Sequencing Primer
(F):5'- GCAGCTGTTACAAATGCAGTGATAAC -3'
(R):5'- TGACCACAGTGACTTCTAAAGAGTC -3'

Posted On

2019-10-24