Mutagenetix > Incidental Mutation

Incidental Mutation 'R8252:Setd5'

640180

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 #

R8252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113077365-113153435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113150955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1290 (Y1290N)

Ref Sequence

ENSEMBL: ENSMUSP00000108780 (fasta)

Gene Model

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

AlphaFold

Q5XJV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042889
AA Change: Y1271N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: Y1271N

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: Y1290N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: Y1290N

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: Y1290N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: Y1290N

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

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,971,272		probably benign	Het
Ano4	A	G	10: 88,981,019	I644T	probably damaging	Het
Arhgap18	T	A	10: 26,854,936	D203E	probably benign	Het
Ascc3	T	A	10: 50,642,610	M337K	probably benign	Het
Atg13	G	C	2: 91,680,354	P343A	probably benign	Het
Cacna1c	C	T	6: 118,657,374	V1058I		Het
Cd180	A	G	13: 102,705,996	T517A	probably benign	Het
Cd1d2	A	C	3: 86,987,068	I48L	probably benign	Het
Cdh19	C	T	1: 110,889,885	C709Y	probably benign	Het
Chst10	T	C	1: 38,884,352	D51G	probably benign	Het
Clec2g	G	A	6: 128,981,372	E184K	probably benign	Het
Col19a1	T	A	1: 24,279,967	H1014L	probably benign	Het
Fam135b	T	A	15: 71,533,023	H58L	probably benign	Het
Fam171b	A	G	2: 83,878,242	I363V	probably benign	Het
Hecw1	C	A	13: 14,340,840	G236W	probably damaging	Het
Htra3	A	G	5: 35,652,961	M459T	probably benign	Het
Iglc2	A	T	16: 19,198,770	C27*	probably null	Het
Il1f8	A	T	2: 24,158,813	T77S	possibly damaging	Het
Kif1b	A	T	4: 149,273,805	N135K	probably damaging	Het
Krt5	A	T	15: 101,712,359	I151N	probably damaging	Het
Lama4	A	T	10: 39,060,146	M606L	probably benign	Het
Lgr6	T	A	1: 135,003,477	S280C	probably null	Het
Msh3	T	A	13: 92,221,061	T967S	probably damaging	Het
Mum1	A	G	10: 80,241,860	I656V	probably benign	Het
Ndufb4	T	C	16: 37,654,275	T29A	probably benign	Het
Nfe2l1	T	C	11: 96,819,232	M724V	probably benign	Het
Nudt12	T	C	17: 59,011,094	Y52C	probably damaging	Het
Nutm1	G	T	2: 112,251,829	Q301K	probably damaging	Het
Olfr1189	A	G	2: 88,592,667	R288G	probably damaging	Het
Olfr325	T	A	11: 58,581,132	I96N	probably damaging	Het
Olfr469	A	G	7: 107,822,569	I300T	probably damaging	Het
Olfr49	T	A	14: 54,282,247	Y216F	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pcdha11	G	C	18: 37,007,537	V740L	possibly damaging	Het
Pkd1l2	T	C	8: 117,040,733	T1273A	probably benign	Het
Pla2g4a	T	C	1: 149,851,307	D574G	probably damaging	Het
Prrc2b	A	T	2: 32,219,380	Q1719L	possibly damaging	Het
Psap	A	G	10: 60,277,689		probably benign	Het
Rab11fip2	C	T	19: 59,936,990	S265N	probably benign	Het
Rnf10	A	T	5: 115,260,314	D53E	probably benign	Het
Scgb2b11	T	C	7: 32,209,339	E112G	probably benign	Het
Scml4	T	C	10: 42,924,104	Y85H	noncoding transcript	Het
Sgk1	T	A	10: 21,997,399	C375S	probably damaging	Het
Sik2	A	G	9: 50,917,115	V209A	possibly damaging	Het
Sipa1l2	A	T	8: 125,468,671	V776D	probably damaging	Het
Slamf1	T	A	1: 171,767,228	M1K	probably null	Het
Slc26a7	T	C	4: 14,621,415		probably benign	Het
Spg11	G	T	2: 122,088,339		probably benign	Het
Sry	C	A	Y: 2,663,298	A121S	possibly damaging	Het
Sspo	C	T	6: 48,485,452	T3719I	probably damaging	Het
Tcap	T	C	11: 98,384,345	S102P	probably benign	Het
Thap7	T	C	16: 17,528,622	R166G	probably benign	Het
Tmem229a	T	C	6: 24,955,581	Y58C	probably damaging	Het
Trim8	A	G	19: 46,515,620	Y537C	probably damaging	Het
Ubr4	T	A	4: 139,473,217	M4692K	unknown	Het
Uvssa	A	G	5: 33,392,179	S395G	probably benign	Het
Vgll4	G	T	6: 114,890,734	T52K	probably damaging	Het
Vmn2r7	A	G	3: 64,693,106	L548P	probably benign	Het
Vmn2r92	T	A	17: 18,166,872	S158T	probably damaging	Het
Wdr70	A	T	15: 8,042,856		probably benign	Het
Zbtb48	A	T	4: 152,020,887	C463S	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
R8083:Setd5	UTSW	6	113115010	missense	probably damaging	1.00
R8175:Setd5	UTSW	6	113114913	missense	probably damaging	1.00
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'- GTTAGCCATTAAAATGTTCTGGGG -3'
(R):5'- TGTTTCCAGAATGCGGCTG -3'

Sequencing Primer
(F):5'- GCTATCAAGCCTGATGACCTGAG -3'
(R):5'- GGCTGCTGTAATACCCTGGAGTC -3'

Posted On

2020-07-28