Mutagenetix > Incidental Mutation

Incidental Mutation 'R4300:Setd5'

322370

Institutional Source

Beutler Lab

Gene Symbol

Setd5

Ensembl Gene

ENSMUSG00000034269

Gene Name

SET domain containing 5

Synonyms

2900045N06Rik

MMRRC Submission

041657-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4300 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

113054326-113130393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 113127123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1249 (V1249G)

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: V1230G

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

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: V1230G

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: V1249G

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

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: V1249G

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: V1249G

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

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: V1249G

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: ENSMUST00000142215
AA Change: V1307G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150107

Meta Mutation Damage Score

0.0804

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (40/40)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	T	A	3: 146,356,675 (GRCm39)	R78*	probably null	Het
A2m	G	A	6: 121,650,434 (GRCm39)	V1181I	probably benign	Het
Cacna1b	T	C	2: 24,525,251 (GRCm39)	S1639G	probably damaging	Het
Ccs	T	C	19: 4,884,285 (GRCm39)	T56A	probably benign	Het
Cd177	T	C	7: 24,449,845 (GRCm39)	I547V	possibly damaging	Het
Ckmt2	C	A	13: 92,011,457 (GRCm39)		probably null	Het
Cyth1	A	G	11: 118,074,720 (GRCm39)	F180L	probably damaging	Het
Dip2c	A	G	13: 9,660,747 (GRCm39)	I840M	probably damaging	Het
Gm37150	G	A	9: 72,292,758 (GRCm39)		noncoding transcript	Het
Herc1	A	G	9: 66,396,688 (GRCm39)	D4255G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnn4	G	T	7: 24,077,029 (GRCm39)	V193L	probably benign	Het
Lrrc8d	G	A	5: 105,961,606 (GRCm39)	R672Q	probably damaging	Het
Mboat2	A	G	12: 25,009,082 (GRCm39)	N463D	probably benign	Het
Mtfr1	T	A	3: 19,269,621 (GRCm39)		probably null	Het
Or10g6	A	C	9: 39,934,435 (GRCm39)	I249L	probably benign	Het
Or5h24	T	C	16: 58,918,641 (GRCm39)	Y238C	unknown	Het
Pcnt	G	C	10: 76,203,225 (GRCm39)	R2626G	probably benign	Het
Pik3cg	A	G	12: 32,226,671 (GRCm39)	I1072T	probably damaging	Het
Prc1	G	A	7: 79,960,964 (GRCm39)		probably benign	Het
Psph	G	T	5: 129,864,529 (GRCm39)		probably null	Het
Rfx4	T	C	10: 84,740,966 (GRCm39)	Y601H	probably damaging	Het
Rmc1	A	G	18: 12,321,919 (GRCm39)	N513D	probably benign	Het
Sirpb1b	A	T	3: 15,613,821 (GRCm39)	I87K	probably damaging	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Spata31	A	T	13: 65,067,575 (GRCm39)	H79L	probably benign	Het
Srbd1	C	A	17: 86,292,632 (GRCm39)	R979L	probably damaging	Het
Stox2	A	T	8: 47,647,027 (GRCm39)	Y208*	probably null	Het
Sun1	A	T	5: 139,213,349 (GRCm39)		probably benign	Het
Tfap4	T	C	16: 4,369,224 (GRCm39)	D132G	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tubgcp3	G	T	8: 12,707,600 (GRCm39)	P130T	probably damaging	Het
Txlnb	A	G	10: 17,703,673 (GRCm39)	E277G	probably damaging	Het

Other mutations in Setd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Setd5	APN	6	113,088,375 (GRCm39)	missense	probably damaging	1.00
IGL02102:Setd5	APN	6	113,127,946 (GRCm39)	nonsense	probably null
IGL02105:Setd5	APN	6	113,094,541 (GRCm39)	missense	probably damaging	1.00
IGL02202:Setd5	APN	6	113,127,976 (GRCm39)	missense	probably benign	0.01
IGL02221:Setd5	APN	6	113,098,131 (GRCm39)	splice site	probably benign
IGL02382:Setd5	APN	6	113,120,601 (GRCm39)	missense	probably benign
IGL02394:Setd5	APN	6	113,087,859 (GRCm39)	missense	probably benign	0.00
IGL02442:Setd5	APN	6	113,087,341 (GRCm39)	missense	possibly damaging	0.93
IGL02480:Setd5	APN	6	113,120,770 (GRCm39)	missense	probably damaging	1.00
IGL02940:Setd5	APN	6	113,091,899 (GRCm39)	missense	possibly damaging	0.92
R0320:Setd5	UTSW	6	113,088,442 (GRCm39)	missense	probably damaging	1.00
R0479:Setd5	UTSW	6	113,091,994 (GRCm39)	missense	probably damaging	1.00
R0514:Setd5	UTSW	6	113,096,398 (GRCm39)	nonsense	probably null
R1528:Setd5	UTSW	6	113,098,699 (GRCm39)	missense	probably damaging	0.99
R1530:Setd5	UTSW	6	113,086,874 (GRCm39)	missense	probably damaging	1.00
R2176:Setd5	UTSW	6	113,128,114 (GRCm39)	missense	probably benign	0.23
R2191:Setd5	UTSW	6	113,088,390 (GRCm39)	nonsense	probably null
R2286:Setd5	UTSW	6	113,096,571 (GRCm39)	missense	possibly damaging	0.69
R4163:Setd5	UTSW	6	113,096,545 (GRCm39)	missense	probably benign
R4294:Setd5	UTSW	6	113,088,281 (GRCm39)	intron	probably benign
R4342:Setd5	UTSW	6	113,088,281 (GRCm39)	intron	probably benign
R4370:Setd5	UTSW	6	113,098,766 (GRCm39)	missense	probably damaging	1.00
R4854:Setd5	UTSW	6	113,128,360 (GRCm39)	missense	probably damaging	1.00
R4858:Setd5	UTSW	6	113,126,527 (GRCm39)	missense	probably damaging	1.00
R5057:Setd5	UTSW	6	113,114,922 (GRCm39)	missense	probably damaging	0.96
R5345:Setd5	UTSW	6	113,092,968 (GRCm39)	missense	probably damaging	1.00
R5529:Setd5	UTSW	6	113,098,529 (GRCm39)	missense	probably damaging	1.00
R5556:Setd5	UTSW	6	113,124,463 (GRCm39)	missense	probably benign	0.00
R5582:Setd5	UTSW	6	113,091,886 (GRCm39)	missense	probably damaging	1.00
R5838:Setd5	UTSW	6	113,096,396 (GRCm39)	missense	probably benign	0.40
R5941:Setd5	UTSW	6	113,105,451 (GRCm39)	missense	probably damaging	1.00
R6009:Setd5	UTSW	6	113,087,480 (GRCm39)	missense	probably damaging	0.99
R6146:Setd5	UTSW	6	113,098,773 (GRCm39)	critical splice donor site	probably null
R6394:Setd5	UTSW	6	113,092,505 (GRCm39)	missense	probably damaging	1.00
R6694:Setd5	UTSW	6	113,120,669 (GRCm39)	missense	probably benign
R7058:Setd5	UTSW	6	113,092,532 (GRCm39)	missense	probably benign	0.16
R7060:Setd5	UTSW	6	113,094,343 (GRCm39)	missense	probably damaging	1.00
R7199:Setd5	UTSW	6	113,098,099 (GRCm39)	missense	probably benign	0.03
R7238:Setd5	UTSW	6	113,098,091 (GRCm39)	missense	probably damaging	1.00
R7296:Setd5	UTSW	6	113,124,518 (GRCm39)	missense	probably benign	0.21
R7438:Setd5	UTSW	6	113,092,043 (GRCm39)	missense	possibly damaging	0.74
R7515:Setd5	UTSW	6	113,087,850 (GRCm39)	missense	probably damaging	1.00
R7621:Setd5	UTSW	6	113,121,010 (GRCm39)	missense	possibly damaging	0.85
R7652:Setd5	UTSW	6	113,098,725 (GRCm39)	missense	probably damaging	1.00
R7986:Setd5	UTSW	6	113,105,418 (GRCm39)	missense	probably benign	0.00
R8083:Setd5	UTSW	6	113,091,971 (GRCm39)	missense	probably damaging	1.00
R8175:Setd5	UTSW	6	113,091,874 (GRCm39)	missense	probably damaging	1.00
R8252:Setd5	UTSW	6	113,127,916 (GRCm39)	missense	probably benign	0.01
R8268:Setd5	UTSW	6	113,126,651 (GRCm39)	critical splice donor site	probably null
R8271:Setd5	UTSW	6	113,092,031 (GRCm39)	missense	possibly damaging	0.58
R8424:Setd5	UTSW	6	113,126,644 (GRCm39)	missense	probably benign	0.12
R8508:Setd5	UTSW	6	113,098,048 (GRCm39)	missense	probably damaging	1.00
R8801:Setd5	UTSW	6	113,127,853 (GRCm39)	missense	possibly damaging	0.95
R8864:Setd5	UTSW	6	113,088,469 (GRCm39)	missense	probably damaging	1.00
R9227:Setd5	UTSW	6	113,098,755 (GRCm39)	missense	possibly damaging	0.92
R9522:Setd5	UTSW	6	113,091,995 (GRCm39)	missense	probably damaging	1.00
R9588:Setd5	UTSW	6	113,121,025 (GRCm39)	missense	probably damaging	1.00
R9660:Setd5	UTSW	6	113,128,366 (GRCm39)	missense	probably benign	0.13
R9711:Setd5	UTSW	6	113,093,063 (GRCm39)	missense	probably damaging	1.00
R9728:Setd5	UTSW	6	113,128,366 (GRCm39)	missense	probably benign	0.13
X0017:Setd5	UTSW	6	113,127,129 (GRCm39)	missense	probably null	1.00
Z1176:Setd5	UTSW	6	113,115,057 (GRCm39)	missense	probably benign
Z1191:Setd5	UTSW	6	113,091,957 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGAGCTCCACCTTCATGAAG -3'
(R):5'- TGAGCAGATGAGCAGATGCC -3'

Sequencing Primer
(F):5'- GCGCATAATTAACCACTTACTATGC -3'
(R):5'- TGAGCAGATGCCTGACTTAC -3'

Posted On

2015-06-20