Mutagenetix > Incidental Mutation

Incidental Mutation 'R8864:Setd5'

675809

Institutional Source

Beutler Lab

Gene Symbol

Setd5

Ensembl Gene

ENSMUSG00000034269

Gene Name

SET domain containing 5

Synonyms

2900045N06Rik

MMRRC Submission

068680-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8864 (G1)

Quality Score

135.008

Status

Validated

Chromosome

Chromosomal Location

113054326-113130393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113088469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 199 (R199H)

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: R180H

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: R180H

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: R199H

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

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: R199H

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: R199H

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

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: R199H

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% (41/41)

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
Adamts19	T	A	18: 59,023,497 (GRCm39)	C297*	probably null	Het
Adamts3	T	C	5: 89,854,981 (GRCm39)		probably benign	Het
Best2	T	A	8: 85,735,942 (GRCm39)	M331L	probably benign	Het
Cachd1	T	A	4: 100,852,026 (GRCm39)	S1207R	probably damaging	Het
Cacna2d3	G	T	14: 29,055,735 (GRCm39)	N298K	probably damaging	Het
Cyp2j12	T	C	4: 96,009,750 (GRCm39)	Y203C	probably damaging	Het
Dnah8	T	C	17: 30,981,616 (GRCm39)	I3046T	possibly damaging	Het
Eif3b	T	C	5: 140,412,287 (GRCm39)	V252A	probably benign	Het
Ergic2	A	G	6: 148,083,393 (GRCm39)	V355A	probably benign	Het
F13a1	C	T	13: 37,061,753 (GRCm39)	G670D	probably damaging	Het
Gfpt1	T	A	6: 87,031,605 (GRCm39)	D82E	probably benign	Het
Ggnbp2	G	A	11: 84,730,902 (GRCm39)	R376C	probably damaging	Het
Grn	T	C	11: 102,327,211 (GRCm39)	F191L	unknown	Het
Ighv1-16	C	T	12: 114,629,619 (GRCm39)	G56D	probably benign	Het
Jrkl	T	C	9: 13,244,326 (GRCm39)	D445G	probably benign	Het
Loxl3	A	G	6: 83,012,739 (GRCm39)	T93A	probably damaging	Het
Lrp1b	C	T	2: 41,002,718 (GRCm39)	A2094T		Het
Lrriq3	T	A	3: 154,893,575 (GRCm39)	D425E	probably damaging	Het
Majin	T	C	19: 6,261,650 (GRCm39)	V55A	possibly damaging	Het
Mapk8ip3	A	T	17: 25,118,492 (GRCm39)	V1192E	probably damaging	Het
Mdga1	T	C	17: 30,150,295 (GRCm39)	S106G	unknown	Het
Mtch2	C	T	2: 90,685,274 (GRCm39)	R135*	probably null	Het
Naip1	T	C	13: 100,562,828 (GRCm39)	N779S	possibly damaging	Het
Nfia	T	C	4: 97,951,382 (GRCm39)	V403A	possibly damaging	Het
Npas4	C	A	19: 5,038,556 (GRCm39)	D121Y	probably damaging	Het
Rab3gap1	C	T	1: 127,837,630 (GRCm39)	R231W	probably damaging	Het
Rangap1	C	G	15: 81,610,270 (GRCm39)		probably benign	Het
Rgs5	T	A	1: 169,517,990 (GRCm39)	F75I	probably benign	Het
Rnf19a	T	C	15: 36,265,452 (GRCm39)	D215G	possibly damaging	Het
Rwdd4a	A	T	8: 48,000,876 (GRCm39)		probably benign	Het
Spata31e1	T	C	13: 49,940,988 (GRCm39)	N241D	probably benign	Het
Spef2	T	C	15: 9,599,833 (GRCm39)	Q2004R	unknown	Het
Syne1	T	C	10: 5,370,473 (GRCm39)	K236E	probably benign	Het
Tas2r104	A	G	6: 131,662,632 (GRCm39)	F26L	possibly damaging	Het
Tbc1d32	T	A	10: 55,963,655 (GRCm39)	E954D	probably benign	Het
Tenm2	A	C	11: 35,918,022 (GRCm39)	S1914A	possibly damaging	Het
Tln2	G	T	9: 67,237,834 (GRCm39)	Y32*	probably null	Het
Tnc	C	T	4: 63,911,296 (GRCm39)	R1425H	probably damaging	Het
Unc13b	T	C	4: 43,174,724 (GRCm39)	C1851R	unknown	Het
Wapl	T	A	14: 34,414,159 (GRCm39)	D340E	probably benign	Het
Zfp74	T	C	7: 29,634,235 (GRCm39)	E491G	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
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
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'- GCCTGAGCTGTGTGATCATC -3'
(R):5'- AAACTGAGCCTGTGGTGATGG -3'

Sequencing Primer
(F):5'- TGAGGAGCTTTCTCCTTC -3'
(R):5'- TACGAAGGTTAGAAGAGAGTTTGTTC -3'

Posted On

2021-07-15