Mutagenetix > Incidental Mutation

Incidental Mutation 'R6694:Setd5'

528491

Institutional Source

Beutler Lab

Gene Symbol

Setd5

Ensembl Gene

ENSMUSG00000034269

Gene Name

SET domain containing 5

Synonyms

2900045N06Rik

MMRRC Submission

044812-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113054326-113130393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113120669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 959 (N959K)

Ref Sequence

ENSEMBL: ENSMUSP00000108782 (fasta)

Gene Model

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

AlphaFold

Q5XJV7

Predicted Effect

probably benign
Transcript: ENSMUST00000042889
AA Change: N940K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: N940K

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: N959K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: N959K

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: N959K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: N959K

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: ENSMUST00000149584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150107

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

95% (41/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	G	A	6: 48,907,480 (GRCm39)	S160N	probably benign	Het
Arap3	A	C	18: 38,124,590 (GRCm39)		probably null	Het
Arhgap10	A	G	8: 78,137,692 (GRCm39)	F300L	probably benign	Het
Ccdc116	T	C	16: 16,960,655 (GRCm39)	E54G	probably benign	Het
Cd53	T	A	3: 106,674,702 (GRCm39)	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,454,849 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,490,104 (GRCm39)	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,150,617 (GRCm39)		probably null	Het
Exoc1	T	A	5: 76,697,399 (GRCm39)	M392K	probably damaging	Het
Exoc3l	G	C	8: 106,017,122 (GRCm39)	R622G	probably benign	Het
Grid2	C	G	6: 63,908,031 (GRCm39)	R224G	possibly damaging	Het
Kif20a	A	G	18: 34,758,579 (GRCm39)	E16G	probably damaging	Het
Kit	T	C	5: 75,801,417 (GRCm39)	V568A	possibly damaging	Het
Lhx4	T	C	1: 155,580,456 (GRCm39)	S257G	probably benign	Het
Med18	C	T	4: 132,187,293 (GRCm39)	V114I	probably benign	Het
Mrps30	C	T	13: 118,523,497 (GRCm39)	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,712,452 (GRCm39)	V645I	probably benign	Het
Nuak2	T	G	1: 132,260,048 (GRCm39)	S609A	probably damaging	Het
Or2y1g	A	T	11: 49,171,379 (GRCm39)	I135F	probably benign	Het
Plk4	T	C	3: 40,756,263 (GRCm39)	V58A	probably damaging	Het
Polq	T	A	16: 36,835,535 (GRCm39)	F145L	probably null	Het
Rab11fip2	T	C	19: 59,925,707 (GRCm39)	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,657,865 (GRCm39)	V246A	probably benign	Het
Rc3h2	A	G	2: 37,290,555 (GRCm39)	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Sae1	G	T	7: 16,102,461 (GRCm39)	A171E	probably damaging	Het
Semp2l2b	T	C	10: 21,943,620 (GRCm39)	E120G	probably damaging	Het
Siae	T	A	9: 37,528,119 (GRCm39)	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311 (GRCm39)	G51D	probably damaging	Het
Slc5a11	A	G	7: 122,867,012 (GRCm39)	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,264,447 (GRCm39)	S470P	probably damaging	Het
Timd2	A	T	11: 46,561,779 (GRCm39)	C288*	probably null	Het
Timeless	T	G	10: 128,075,868 (GRCm39)		probably null	Het
Ubxn8	G	T	8: 34,111,572 (GRCm39)	Q274K	possibly damaging	Het
Usp29	A	G	7: 6,965,276 (GRCm39)	E373G	probably benign	Het
Zap70	A	G	1: 36,821,598 (GRCm39)	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,419,446 (GRCm39)	Y195D	probably damaging	Het
Zfp74	G	A	7: 29,634,559 (GRCm39)	A383V	probably damaging	Het
Zfp93	A	T	7: 23,975,338 (GRCm39)	Q441L	probably damaging	Het
Zfp976	A	T	7: 42,263,610 (GRCm39)	Y76N	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
R4300:Setd5	UTSW	6	113,127,123 (GRCm39)	missense	probably damaging	1.00
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
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'- GCAGAATTGCCTGATGCCTTC -3'
(R):5'- AATGTAAAGGCTTCCTGTCTCC -3'

Sequencing Primer
(F):5'- AGAATTGCCTGATGCCTTCATTCC -3'
(R):5'- GGAGACCCTCTATACAGTCCATC -3'

Posted On

2018-07-24