Mutagenetix > Incidental Mutation

Incidental Mutation 'R6394:Setd5'

515933

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 #

R6394 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113077365-113153435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 113115544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 295 (V295G)

Ref Sequence

ENSEMBL: ENSMUSP00000108782 (fasta)

Gene Model

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

AlphaFold

Q5XJV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042889
AA Change: V276G

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

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: V276G

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: V295G

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

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: V295G

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: V295G

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

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: V295G

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: ENSMUST00000149584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204377

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	T	6: 40,921,792	L174*	probably null	Het
Akap11	A	T	14: 78,522,589		probably null	Het
Alpi	T	A	1: 87,100,706	Y154F	possibly damaging	Het
Als2	A	T	1: 59,167,197	F1635I	probably damaging	Het
Anxa1	C	T	19: 20,383,849	V60M	probably damaging	Het
Atp10b	A	G	11: 43,225,637	Y937C	probably damaging	Het
Brd4	C	A	17: 32,224,147	E167*	probably null	Het
Cacna1h	G	A	17: 25,387,481	T1048I	probably benign	Het
Ccdc113	A	G	8: 95,557,192	D298G	probably benign	Het
Cfap100	T	A	6: 90,417,623	N74I	possibly damaging	Het
Chd8	A	T	14: 52,202,585	H4Q	possibly damaging	Het
Clcn1	A	G	6: 42,307,590	T621A	possibly damaging	Het
Clcn1	A	G	6: 42,313,238	T843A	possibly damaging	Het
Clcn3	C	T	8: 60,941,291	R68Q	probably damaging	Het
Dcaf13	T	A	15: 39,143,737	N355K	probably benign	Het
Dnah6	A	T	6: 73,155,418	C1100*	probably null	Het
Dync2h1	A	T	9: 7,168,331	V428E	probably damaging	Het
E230025N22Rik	T	C	18: 36,686,786	E317G	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Evc2	C	A	5: 37,378,275	D431E	probably damaging	Het
Gcm2	T	G	13: 41,109,897	T20P	probably damaging	Het
Gdf9	A	G	11: 53,436,697	Y160C	probably damaging	Het
Gm8220	A	G	14: 44,285,677		probably benign	Het
Gm9573	A	T	17: 35,620,166		probably benign	Het
Gpalpp1	A	T	14: 76,107,412	S44T	possibly damaging	Het
Grip2	T	C	6: 91,787,201	Y134C	probably damaging	Het
Hephl1	A	G	9: 15,074,101	F753S	probably benign	Het
Herc1	A	G	9: 66,395,059	T727A	probably damaging	Het
Herc2	A	G	7: 56,215,981	E4232G	probably damaging	Het
Ifi207	A	G	1: 173,729,015	L726P	probably benign	Het
Itga11	T	A	9: 62,735,266		probably null	Het
Jrkl	A	C	9: 13,245,490	Y55*	probably null	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Kif18b	A	G	11: 102,914,410	V303A	probably damaging	Het
Klhl29	A	T	12: 5,094,830	C423*	probably null	Het
Klhl29	T	C	12: 5,137,720	S215G	probably benign	Het
Lamp5	A	G	2: 136,061,009	D216G	possibly damaging	Het
Leo1	T	A	9: 75,445,470	D98E	probably benign	Het
Map3k3	T	C	11: 106,148,883	V283A	probably benign	Het
Med12l	A	G	3: 59,235,087	K902E	probably damaging	Het
Mmp1b	C	A	9: 7,386,316	D202Y	probably benign	Het
Olfr1201	C	T	2: 88,794,952	T190I	probably benign	Het
Olfr239	G	A	17: 33,199,513	G155D	probably damaging	Het
Olfr488	C	T	7: 108,255,763	R125H	possibly damaging	Het
Olfr657	T	A	7: 104,635,702	N9K	possibly damaging	Het
Olfr657	T	C	7: 104,636,027	S118P	possibly damaging	Het
Olfr816	G	T	10: 129,911,920	D119E	probably damaging	Het
Olfr979	T	C	9: 40,000,705	Q174R	probably benign	Het
Onecut3	A	G	10: 80,496,013	I336V	probably damaging	Het
Oprl1	C	T	2: 181,719,002	R257C	probably damaging	Het
Osbpl6	T	C	2: 76,555,954	V207A	probably benign	Het
Pde3a	A	T	6: 141,487,511	H756L	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phyh	A	G	2: 4,936,003	D238G	probably benign	Het
Pnliprp2	T	A	19: 58,761,598	N92K	probably benign	Het
Pole3	T	C	4: 62,524,026		probably benign	Het
Ppm1d	T	C	11: 85,339,672	V372A	probably benign	Het
Prpf40a	A	T	2: 53,144,878	I766N	probably damaging	Het
Prr5	T	A	15: 84,699,724	V175E	probably damaging	Het
Ptprq	T	A	10: 107,642,943	K1280*	probably null	Het
Rbp2	T	A	9: 98,507,820	V95E	possibly damaging	Het
Rictor	T	C	15: 6,769,309	F346L	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Scn10a	T	A	9: 119,661,320	I519F	probably benign	Het
Shcbp1	A	T	8: 4,736,176	M642K	probably damaging	Het
Slc13a3	C	T	2: 165,434,097	G243E	probably damaging	Het
Smg9	T	C	7: 24,422,307	Y498H	probably damaging	Het
Sox5	T	C	6: 144,041,313	D175G	probably damaging	Het
Stard7	A	G	2: 127,284,241	D71G	probably damaging	Het
Stxbp5	A	T	10: 9,899,231	Y59*	probably null	Het
Supt6	G	A	11: 78,231,065	R254C	probably damaging	Het
Syne2	C	T	12: 75,990,495	T3817I	probably benign	Het
Tas2r124	T	A	6: 132,755,076	I116N	probably damaging	Het
Trim9	T	A	12: 70,255,213	E550D	possibly damaging	Het
Vmn2r50	A	G	7: 10,040,326	S548P	probably damaging	Het
Zmynd8	C	A	2: 165,846,023	E126*	probably null	Het
Zswim9	A	T	7: 13,260,963	S422R	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
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'- TTACCTTCTCTGGGACCACTAATTG -3'
(R):5'- TCAGTCAGAACCATGCAAGC -3'

Sequencing Primer
(F):5'- GTTTCCTGGAAACTTGAGATTATGTC -3'
(R):5'- TGCAAGCCCTCAATGCTC -3'

Posted On

2018-05-04