Mutagenetix > Incidental Mutation

Incidental Mutation 'R7621:Setd5'

589138

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 #

R7621 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113077365-113153435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 113144049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 1073 (P1073Q)

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: P1054Q

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: P1054Q

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

possibly damaging
Transcript: ENSMUST00000113155
AA Change: P1073Q

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: P1073Q

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

possibly damaging
Transcript: ENSMUST00000113157
AA Change: P1073Q

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: P1073Q

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	G	A	7: 140,296,829	G711D	probably damaging	Het
Abca9	T	A	11: 110,160,533	K112N	probably benign	Het
Brwd1	A	G	16: 96,064,887	S232P	probably damaging	Het
Calm5	A	T	13: 3,854,629	M108L	possibly damaging	Het
Ces1g	A	T	8: 93,328,466	V201D	probably damaging	Het
Cltc	C	A	11: 86,707,486	V1017L	probably benign	Het
Cpt1c	C	T	7: 44,967,092	R245Q	probably damaging	Het
Csrnp1	C	A	9: 119,977,092	A39S	probably benign	Het
Elf1	A	G	14: 79,570,882	D258G	possibly damaging	Het
Fam189a2	A	C	19: 23,994,804	S179A	possibly damaging	Het
Glipr1l1	A	T	10: 112,060,395	D29V	probably benign	Het
Gm4340	T	C	10: 104,195,959	V188A	probably benign	Het
Gsdma2	T	C	11: 98,649,549	M98T	probably benign	Het
Hars	A	T	18: 36,770,423	D315E	probably benign	Het
Hsph1	A	C	5: 149,632,075	Y89D	probably damaging	Het
Ighv11-2	T	A	12: 114,048,388	D69V	probably benign	Het
Kirrel	C	T	3: 87,088,221	G438D	possibly damaging	Het
Krt6a	G	T	15: 101,691,752	T355K	possibly damaging	Het
Lce1m	T	C	3: 93,017,870		probably null	Het
Lmbrd1	A	T	1: 24,728,544		probably null	Het
Lmtk3	A	G	7: 45,793,417	E508G	probably damaging	Het
Lrrc2	G	A	9: 110,980,831	V312I	probably benign	Het
Lyn	A	T	4: 3,789,834	K477*	probably null	Het
Nfe2l2	T	C	2: 75,679,413	D21G	probably damaging	Het
Olfr1316	T	C	2: 112,130,581	T77A	probably benign	Het
Olfr297	G	A	7: 86,527,072	C105Y	probably benign	Het
Olfr543	G	A	7: 102,477,265	R202C	possibly damaging	Het
Olfr893	T	C	9: 38,209,151	F31L	probably benign	Het
Pkm	T	A	9: 59,678,158	C474*	probably null	Het
Prr36	T	A	8: 4,213,150	I839F	unknown	Het
Qtrt2	A	G	16: 43,868,940		probably null	Het
Ripk4	A	T	16: 97,745,925	V379E	probably damaging	Het
Rreb1	C	A	13: 37,949,066	P304Q		Het
Saxo2	A	T	7: 82,648,417	C5S	possibly damaging	Het
Sema5a	C	A	15: 32,609,232	T428N	possibly damaging	Het
Sh2d5	T	G	4: 138,256,839	C173G	probably benign	Het
Slc4a10	T	G	2: 62,250,479	V350G	probably damaging	Het
Slco1a6	A	G	6: 142,161,017	C15R	probably damaging	Het
Smg7	A	T	1: 152,841,544	F940Y	possibly damaging	Het
Spata17	T	A	1: 187,122,636		probably null	Het
Specc1	A	G	11: 62,128,384	N603S	possibly damaging	Het
Tbc1d1	A	G	5: 64,264,330	D355G	probably damaging	Het
Thbs2	T	C	17: 14,674,164	D807G	probably benign	Het
Tmem8	C	A	17: 26,117,891	P261Q	probably benign	Het
Usp53	T	C	3: 122,961,285	T174A	probably benign	Het
Vmn2r52	A	G	7: 10,173,347	Y151H	probably benign	Het
Wdr12	G	A	1: 60,097,589		probably benign	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
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'- ATGGACTGTATAGAGGGTCTCCC -3'
(R):5'- GCCGGCTATTCACAACACTTTC -3'

Sequencing Primer
(F):5'- CTTGGTGGGAGACAGGAAGCC -3'
(R):5'- CGATAACTTGAGTTCAATCCCAGG -3'

Posted On

2019-10-24