Mutagenetix > Incidental Mutation

Incidental Mutation 'R7515:Setd5'

582387

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 #

R7515 (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 A at 113110889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 137 (I137N)

Ref Sequence

ENSEMBL: ENSMUSP00000108780 (fasta)

Gene Model

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

AlphaFold

Q5XJV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042889
AA Change: I118N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: I118N

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: I137N

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

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: I137N

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: I137N

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

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: I137N

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	T	11: 5,628,905	E56D	possibly damaging	Het
Ankrd44	T	C	1: 54,766,355	Y182C	probably damaging	Het
Anxa3	A	T	5: 96,838,320	N273Y	probably damaging	Het
Apobec2	T	C	17: 48,422,987	E217G	probably damaging	Het
Arhgap24	A	G	5: 102,846,016		probably benign	Het
Asap2	A	G	12: 21,229,239	H374R	possibly damaging	Het
Camsap2	T	C	1: 136,345,370	D23G	probably damaging	Het
Ccr2	T	C	9: 124,106,160	V159A	probably damaging	Het
Cfap61	T	A	2: 146,042,725	D614E	unknown	Het
Crb2	G	A	2: 37,783,400	G103R	probably damaging	Het
Cyp2b9	A	G	7: 26,199,171	Y317C	probably damaging	Het
Dhx36	A	G	3: 62,472,087	V860A	probably benign	Het
Dnah3	T	C	7: 120,073,592	D553G	probably benign	Het
Dnah7c	T	C	1: 46,457,290	S112P	probably benign	Het
Dnah9	A	G	11: 65,841,414	F4222S	probably benign	Het
Ei24	T	C	9: 36,789,915	D36G	probably damaging	Het
Etv3	G	T	3: 87,528,056	R78L	possibly damaging	Het
Fbxo34	T	C	14: 47,530,341	L437P	possibly damaging	Het
Foxn1	T	C	11: 78,371,144	D133G	possibly damaging	Het
Gabra1	T	A	11: 42,154,833	D150V	possibly damaging	Het
Gpr158	T	C	2: 21,368,281	L9P	probably damaging	Het
H2-M10.3	G	A	17: 36,366,543	T281I	probably damaging	Het
Il18r1	T	C	1: 40,498,670	S532P	not run	Het
Itpr2	T	C	6: 146,327,110	D1329G	probably damaging	Het
Jakmip2	A	T	18: 43,571,126	N384K	probably benign	Het
Kdsr	A	G	1: 106,734,560	V255A	possibly damaging	Het
Kifc1	A	G	17: 33,884,803	L182P	probably damaging	Het
Lgals8	G	A	13: 12,448,462	R198*	probably null	Het
Lrrk1	A	T	7: 66,262,562	M1750K	probably benign	Het
Lrsam1	A	G	2: 32,940,239		probably null	Het
Lztr1	C	T	16: 17,509,661	A76V	possibly damaging	Het
Mcc	G	T	18: 44,493,432	H366N	probably benign	Het
Mif4gd	A	G	11: 115,608,396	V220A	possibly damaging	Het
Mtmr12	T	A	15: 12,269,951	F708L	probably damaging	Het
Muc16	A	T	9: 18,639,662	W5112R	probably benign	Het
Ndrg2	A	G	14: 51,908,923	I140T	probably benign	Het
Nid2	C	A	14: 19,791,567	Q887K	probably benign	Het
Nop16	A	T	13: 54,589,737	S48T	possibly damaging	Het
Nrap	G	A	19: 56,366,427	T489I	possibly damaging	Het
Oas1e	C	T	5: 120,791,886	G189D	probably damaging	Het
Olfr1238	A	G	2: 89,406,906	Y58H	possibly damaging	Het
Olfr854	A	T	9: 19,566,653	C244S	probably damaging	Het
Pcdha5	A	T	18: 36,962,118	D560V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Phldb2	C	T	16: 45,774,240	D901N	possibly damaging	Het
Piezo1	T	C	8: 122,485,296	H2058R		Het
Ptgis	T	A	2: 167,206,838	K419N	possibly damaging	Het
Ptprz1	T	C	6: 23,022,267	F1714L	probably damaging	Het
Rasa2	T	C	9: 96,552,300		probably null	Het
Recql	C	T	6: 142,374,885	D146N	probably damaging	Het
Rnf6	T	G	5: 146,211,792	S139R	probably damaging	Het
Rock1	A	G	18: 10,067,631	S1301P	probably damaging	Het
Safb2	A	G	17: 56,582,982		probably null	Het
Sf3b6	G	A	12: 4,820,619	R19Q	probably damaging	Het
Slc15a5	T	A	6: 138,043,498	H279L	possibly damaging	Het
Slc26a9	A	G	1: 131,753,973	T175A	probably damaging	Het
Sspo	A	T	6: 48,493,886	N36I	probably damaging	Het
Supv3l1	A	C	10: 62,432,311	F585C	probably damaging	Het
Tnrc6c	G	T	11: 117,741,681	V1070L	probably benign	Het
Vmn2r53	T	A	7: 12,581,919	M658L	probably benign	Het
Zc3h13	A	G	14: 75,308,909	D150G	unknown	Het
Zfp607b	T	C	7: 27,703,496	V459A	probably benign	Het
Zfp653	T	C	9: 22,071,131	R71G	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
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'- GCACTAGGTGAGAATTGCTGAC -3'
(R):5'- AGTAGTTTCCACACTCTGCTG -3'

Sequencing Primer
(F):5'- CTAGGTGAGAATTGCTGACAACAAG -3'
(R):5'- CTGGTGCTTACAAAGGATAATTTGAC -3'

Posted On

2019-10-17