Mutagenetix > Incidental Mutation

Incidental Mutation 'R5345:Setd5'

500957

Institutional Source

Beutler Lab

Gene Symbol

Setd5

Ensembl Gene

ENSMUSG00000034269

Gene Name

SET domain containing 5

Synonyms

2900045N06Rik

MMRRC Submission

042924-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113077365-113153435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113116007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 340 (P340L)

Ref Sequence

ENSEMBL: ENSMUSP00000108782 (fasta)

Gene Model

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

AlphaFold

Q5XJV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042889
AA Change: P321L

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: P321L

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: P340L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: P340L

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: P340L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: P340L

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: ENSMUST00000124467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141072
AA Change: P563L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142215
AA Change: P398L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204377

Meta Mutation Damage Score

0.4971

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (65/66)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	C	T	18: 12,179,177	T158M	probably benign	Het
Abl1	T	A	2: 31,797,047	S519T	probably damaging	Het
Acap2	A	G	16: 31,108,126	S524P	probably benign	Het
Acot1	T	A	12: 84,017,168	I350N	probably damaging	Het
Adam8	A	G	7: 139,987,639	V397A	probably benign	Het
Ankar	A	G	1: 72,670,151	M735T	possibly damaging	Het
B020031M17Rik	A	T	13: 119,949,848	V74E	probably damaging	Het
Cacna1c	A	G	6: 118,656,536		probably null	Het
Cdc25b	A	G	2: 131,192,596	S222G	probably benign	Het
Celsr3	T	C	9: 108,832,124	S1390P	probably damaging	Het
Clca4a	T	G	3: 144,970,461	D104A	probably damaging	Het
Clcn6	A	T	4: 148,038,749		probably benign	Het
Coq8b	A	G	7: 27,250,348	T320A	probably benign	Het
Cspg5	A	T	9: 110,246,630	M145L	probably benign	Het
Cyp2c67	T	A	19: 39,626,232	I284F	probably benign	Het
Eya4	T	C	10: 23,110,048	I565V	probably benign	Het
Fbxw11	A	G	11: 32,738,471	N410S	probably damaging	Het
Gabrb2	C	T	11: 42,626,809	A448V	possibly damaging	Het
Gm11487	A	T	4: 73,401,277	W77R	probably damaging	Het
Hectd4	A	G	5: 121,263,974	D375G	possibly damaging	Het
Itsn2	T	C	12: 4,672,783	V1073A	probably damaging	Het
Kif5c	A	G	2: 49,723,066	T139A	probably benign	Het
L1td1	G	A	4: 98,736,447	G293D	probably damaging	Het
Lama1	A	G	17: 67,817,563	M2873V	probably benign	Het
Myo15	A	G	11: 60,497,538	R1960G	probably damaging	Het
Nbeal1	T	C	1: 60,328,210		probably null	Het
Ndufb4	A	G	16: 37,654,178		probably null	Het
Nup153	A	T	13: 46,686,865	L1089*	probably null	Het
Olfr1107	A	G	2: 87,071,492	V214A	possibly damaging	Het
Olfr1512	G	A	14: 52,372,268	R262*	probably null	Het
Olfr168	T	A	16: 19,530,777	I48F	probably damaging	Het
P2rx1	A	G	11: 73,009,230	T158A	probably damaging	Het
Park7	A	G	4: 150,908,423		probably benign	Het
Parl	A	T	16: 20,298,142	F102I	probably damaging	Het
Plxnc1	T	A	10: 94,849,969	H720L	probably benign	Het
Ptpn4	A	G	1: 119,765,477	S140P	probably benign	Het
Rel	A	G	11: 23,742,462	S524P	probably benign	Het
Ripply2	A	G	9: 87,019,726		probably null	Het
Rps4l-ps	T	C	7: 114,927,198		noncoding transcript	Het
Rtn4ip1	T	C	10: 43,932,470	L81P	probably damaging	Het
Sap130	T	C	18: 31,648,198	L138P	probably benign	Het
Scp2	A	T	4: 108,055,579		probably null	Het
Sec24c	T	A	14: 20,693,220	M970K	probably benign	Het
Sgcg	A	T	14: 61,245,769	M61K	probably damaging	Het
Slc22a27	C	G	19: 7,865,938	A359P	probably damaging	Het
Slc34a1	A	G	13: 55,400,518	R21G	probably benign	Het
Slc7a14	A	C	3: 31,223,857	L533W	probably damaging	Het
Srsf9	A	G	5: 115,330,536	D77G	probably benign	Het
Tab1	A	T	15: 80,149,813	E119V	possibly damaging	Het
Tnrc6c	C	T	11: 117,723,287	A757V	possibly damaging	Het
Tradd	A	T	8: 105,259,924	I72N	probably damaging	Het
Trbv12-1	C	T	6: 41,113,847	T51M	probably benign	Het
Tsga10	T	C	1: 37,763,311	K605E	probably damaging	Het
Vwc2l	A	G	1: 70,728,918	D47G	probably damaging	Het
Zfp647	T	A	15: 76,911,495	T322S	possibly damaging	Het
Zscan20	A	C	4: 128,588,121	S583A	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
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
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
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'- GGGCAAATAAATCTGCAAATCGTG -3'
(R):5'- ATTAAACATGTCCTTTGATGGCTCC -3'

Sequencing Primer
(F):5'- ACACTAGTGATGACTCCTTTCCAAG -3'
(R):5'- CCTTTGATGGCTCCATTGAAAG -3'

Posted On

2017-12-01