Mutagenetix > Incidental Mutation

Incidental Mutation 'R7296:Setd5'

571617

Institutional Source

Beutler Lab

Gene Symbol

Setd5

Ensembl Gene

ENSMUSG00000034269

Gene Name

SET domain containing 5

Synonyms

2900045N06Rik

MMRRC Submission

045400-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113077365-113153435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 113147557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1124 (S1124A)

Ref Sequence

ENSEMBL: ENSMUSP00000108780 (fasta)

Gene Model

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

AlphaFold

Q5XJV7

Predicted Effect

probably benign
Transcript: ENSMUST00000042889
AA Change: S1105A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: S1105A

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: S1124A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: S1124A

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: S1124A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: S1124A

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: 98.8%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,383,143 (GRCm38)	M226K	probably benign	Het
4921524L21Rik	T	G	18: 6,626,385 (GRCm38)	S132R	probably damaging	Het
A4gnt	T	G	9: 99,620,282 (GRCm38)	I165S	probably damaging	Het
Abca14	G	A	7: 120,278,311 (GRCm38)	D1061N	probably benign	Het
Abcc9	G	A	6: 142,671,593 (GRCm38)	P582S	probably damaging	Het
Abhd5	G	A	9: 122,379,573 (GRCm38)	V343I	probably benign	Het
Adam6a	C	T	12: 113,545,572 (GRCm38)	R522C	probably damaging	Het
Ankle2	G	A	5: 110,237,724 (GRCm38)	R313H	probably damaging	Het
Aplf	G	A	6: 87,646,215 (GRCm38)	T315I	probably damaging	Het
Asic5	C	T	3: 82,021,076 (GRCm38)	P491S	probably benign	Het
Atp5f1b	T	C	10: 128,085,522 (GRCm38)	Y230H	probably benign	Het
B4galt6	A	T	18: 20,728,042 (GRCm38)	I51N	probably damaging	Het
Bmal2	G	A	6: 146,822,134 (GRCm38)	V321I	not run	Het
C4b	A	G	17: 34,743,659 (GRCm38)	L23S	probably damaging	Het
Cables2	A	G	2: 180,260,336 (GRCm38)	V410A		Het
Ccdc168	T	A	1: 44,060,916 (GRCm38)	K341*	probably null	Het
Cdyl	A	G	13: 35,863,395 (GRCm38)	M489V	probably damaging	Het
Clip4	T	C	17: 71,790,001 (GRCm38)	M40T	probably damaging	Het
Col12a1	T	C	9: 79,682,066 (GRCm38)	Y1069C	probably damaging	Het
Col6a3	T	C	1: 90,827,986 (GRCm38)	M194V	probably benign	Het
Colec11	T	A	12: 28,594,715 (GRCm38)	D260V	probably damaging	Het
Cracdl	T	C	1: 37,614,618 (GRCm38)	T1036A	possibly damaging	Het
Cux2	T	C	5: 121,861,256 (GRCm38)	D1207G	probably benign	Het
Cyp2d34	G	T	15: 82,617,235 (GRCm38)	N297K	possibly damaging	Het
Dmbt1	A	G	7: 131,112,132 (GRCm38)	Y1643C	unknown	Het
Dnmt3c	A	G	2: 153,715,026 (GRCm38)	T288A	probably benign	Het
Dock8	T	A	19: 25,184,881 (GRCm38)	F1842I	probably benign	Het
Dysf	A	G	6: 84,106,898 (GRCm38)	I740V	probably benign	Het
Epha6	T	A	16: 59,915,838 (GRCm38)	M778L	probably benign	Het
Eri2	A	T	7: 119,786,516 (GRCm38)	L254*	probably null	Het
Fam43b	A	G	4: 138,395,841 (GRCm38)	F56S	probably damaging	Het
Fat4	C	A	3: 38,889,145 (GRCm38)	S729*	probably null	Het
Fbxw22	C	A	9: 109,382,075 (GRCm38)	W386L	probably benign	Het
Fgd6	C	A	10: 94,139,881 (GRCm38)	T1386K	probably benign	Het
Fgd6	T	A	10: 94,044,047 (GRCm38)	C254*	probably null	Het
Fkbp7	G	T	2: 76,671,764 (GRCm38)	D98E	possibly damaging	Het
Hectd1	C	T	12: 51,785,852 (GRCm38)	C913Y	possibly damaging	Het
Hgf	T	A	5: 16,564,843 (GRCm38)	M105K	probably benign	Het
Icam1	A	C	9: 21,019,015 (GRCm38)	D55A	probably benign	Het
Itga2	A	C	13: 114,857,394 (GRCm38)		probably null	Het
Kcnj5	A	C	9: 32,322,749 (GRCm38)	L90R	probably damaging	Het
Klra17	T	A	6: 129,831,592 (GRCm38)	N226I	possibly damaging	Het
Krt1	T	A	15: 101,850,629 (GRCm38)	R33S	unknown	Het
L3mbtl3	T	A	10: 26,282,830 (GRCm38)	D615V	unknown	Het
Lrp2	T	A	2: 69,482,381 (GRCm38)	Y2521F	probably benign	Het
Megf10	A	T	18: 57,275,753 (GRCm38)	N589I	probably damaging	Het
Metap1d	G	C	2: 71,506,785 (GRCm38)	G14A	probably benign	Het
Mfap5	T	A	6: 122,528,422 (GRCm38)	D162E	probably benign	Het
Mixl1	T	C	1: 180,696,958 (GRCm38)	I19V	probably benign	Het
Mtrr	G	T	13: 68,568,860 (GRCm38)	Y411*	probably null	Het
Myh7	T	C	14: 54,990,025 (GRCm38)	T318A	probably benign	Het
Nbeal1	T	A	1: 60,310,224 (GRCm38)	Y2348*	probably null	Het
Nhsl3	A	G	4: 129,225,418 (GRCm38)	Y170H	probably damaging	Het
Niban2	T	C	2: 32,922,642 (GRCm38)	S468P	possibly damaging	Het
Nlrc3	T	C	16: 3,963,590 (GRCm38)	S668G	probably damaging	Het
Nutm1	G	A	2: 112,250,056 (GRCm38)	R505C	probably damaging	Het
Or10ag59	T	A	2: 87,575,708 (GRCm38)	V208E	probably damaging	Het
Or12j2	A	T	7: 140,336,741 (GRCm38)	D293V	possibly damaging	Het
Or4c117	C	A	2: 89,124,836 (GRCm38)	R298S	probably benign	Het
Pcna	A	G	2: 132,252,877 (GRCm38)	S54P	probably benign	Het
Pde6a	A	G	18: 61,258,293 (GRCm38)	T570A	probably damaging	Het
Phf21b	A	T	15: 84,855,717 (GRCm38)	M1K	probably null	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Prob1	A	G	18: 35,653,299 (GRCm38)	F634S	possibly damaging	Het
Prss50	A	G	9: 110,861,289 (GRCm38)	T167A	probably damaging	Het
Ptpn1	T	C	2: 167,974,772 (GRCm38)	V249A	probably damaging	Het
Rai1	G	A	11: 60,188,673 (GRCm38)	V1188I	probably benign	Het
Ric1	G	A	19: 29,584,578 (GRCm38)		probably null	Het
Robo1	C	T	16: 72,989,631 (GRCm38)	Q844*	probably null	Het
Rpn1	A	G	6: 88,084,637 (GRCm38)	D36G	possibly damaging	Het
Serpinb1b	A	T	13: 33,093,827 (GRCm38)	M348L	probably benign	Het
Setd4	T	C	16: 93,583,942 (GRCm38)		probably null	Het
Slc35c1	C	A	2: 92,458,739 (GRCm38)	V154F	probably damaging	Het
Slc7a6os	G	T	8: 106,210,489 (GRCm38)	S113*	probably null	Het
Syne2	T	A	12: 76,103,036 (GRCm38)	D1787E	probably benign	Het
Tas2r144	A	C	6: 42,215,439 (GRCm38)	I38L	probably damaging	Het
Tepsin	G	T	11: 120,091,708 (GRCm38)	T512K	possibly damaging	Het
Utp20	A	G	10: 88,770,724 (GRCm38)	V1662A	probably benign	Het
Vmn1r201	C	T	13: 22,475,339 (GRCm38)	A241V	possibly damaging	Het
Vmn2r60	T	A	7: 42,136,402 (GRCm38)	S210T	probably benign	Het
Wdr6	G	T	9: 108,574,585 (GRCm38)	H700N	probably damaging	Het
Zdhhc8	T	C	16: 18,234,926 (GRCm38)	T29A	probably benign	Het
Zfp335	A	G	2: 164,900,132 (GRCm38)	I614T	probably damaging	Het
Zfp54	T	A	17: 21,433,582 (GRCm38)	S113T	probably benign	Het
Zfp873	T	A	10: 82,061,237 (GRCm38)	C601S	probably damaging	Het
Zfyve26	T	C	12: 79,278,372 (GRCm38)		probably null	Het
Zmynd8	T	C	2: 165,840,009 (GRCm38)	T201A	probably damaging	Het

Other mutations in Setd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Setd5	APN	6	113,111,414 (GRCm38)	missense	probably damaging	1.00
IGL02102:Setd5	APN	6	113,150,985 (GRCm38)	nonsense	probably null
IGL02105:Setd5	APN	6	113,117,580 (GRCm38)	missense	probably damaging	1.00
IGL02202:Setd5	APN	6	113,151,015 (GRCm38)	missense	probably benign	0.01
IGL02221:Setd5	APN	6	113,121,170 (GRCm38)	splice site	probably benign
IGL02382:Setd5	APN	6	113,143,640 (GRCm38)	missense	probably benign
IGL02394:Setd5	APN	6	113,110,898 (GRCm38)	missense	probably benign	0.00
IGL02442:Setd5	APN	6	113,110,380 (GRCm38)	missense	possibly damaging	0.93
IGL02480:Setd5	APN	6	113,143,809 (GRCm38)	missense	probably damaging	1.00
IGL02940:Setd5	APN	6	113,114,938 (GRCm38)	missense	possibly damaging	0.92
R0320:Setd5	UTSW	6	113,111,481 (GRCm38)	missense	probably damaging	1.00
R0479:Setd5	UTSW	6	113,115,033 (GRCm38)	missense	probably damaging	1.00
R0514:Setd5	UTSW	6	113,119,437 (GRCm38)	nonsense	probably null
R1528:Setd5	UTSW	6	113,121,738 (GRCm38)	missense	probably damaging	0.99
R1530:Setd5	UTSW	6	113,109,913 (GRCm38)	missense	probably damaging	1.00
R2176:Setd5	UTSW	6	113,151,153 (GRCm38)	missense	probably benign	0.23
R2191:Setd5	UTSW	6	113,111,429 (GRCm38)	nonsense	probably null
R2286:Setd5	UTSW	6	113,119,610 (GRCm38)	missense	possibly damaging	0.69
R4163:Setd5	UTSW	6	113,119,584 (GRCm38)	missense	probably benign
R4294:Setd5	UTSW	6	113,111,320 (GRCm38)	intron	probably benign
R4300:Setd5	UTSW	6	113,150,162 (GRCm38)	missense	probably damaging	1.00
R4342:Setd5	UTSW	6	113,111,320 (GRCm38)	intron	probably benign
R4370:Setd5	UTSW	6	113,121,805 (GRCm38)	missense	probably damaging	1.00
R4854:Setd5	UTSW	6	113,151,399 (GRCm38)	missense	probably damaging	1.00
R4858:Setd5	UTSW	6	113,149,566 (GRCm38)	missense	probably damaging	1.00
R5057:Setd5	UTSW	6	113,137,961 (GRCm38)	missense	probably damaging	0.96
R5345:Setd5	UTSW	6	113,116,007 (GRCm38)	missense	probably damaging	1.00
R5529:Setd5	UTSW	6	113,121,568 (GRCm38)	missense	probably damaging	1.00
R5556:Setd5	UTSW	6	113,147,502 (GRCm38)	missense	probably benign	0.00
R5582:Setd5	UTSW	6	113,114,925 (GRCm38)	missense	probably damaging	1.00
R5838:Setd5	UTSW	6	113,119,435 (GRCm38)	missense	probably benign	0.40
R5941:Setd5	UTSW	6	113,128,490 (GRCm38)	missense	probably damaging	1.00
R6009:Setd5	UTSW	6	113,110,519 (GRCm38)	missense	probably damaging	0.99
R6146:Setd5	UTSW	6	113,121,812 (GRCm38)	critical splice donor site	probably null
R6394:Setd5	UTSW	6	113,115,544 (GRCm38)	missense	probably damaging	1.00
R6694:Setd5	UTSW	6	113,143,708 (GRCm38)	missense	probably benign
R7058:Setd5	UTSW	6	113,115,571 (GRCm38)	missense	probably benign	0.16
R7060:Setd5	UTSW	6	113,117,382 (GRCm38)	missense	probably damaging	1.00
R7199:Setd5	UTSW	6	113,121,138 (GRCm38)	missense	probably benign	0.03
R7238:Setd5	UTSW	6	113,121,130 (GRCm38)	missense	probably damaging	1.00
R7438:Setd5	UTSW	6	113,115,082 (GRCm38)	missense	possibly damaging	0.74
R7515:Setd5	UTSW	6	113,110,889 (GRCm38)	missense	probably damaging	1.00
R7621:Setd5	UTSW	6	113,144,049 (GRCm38)	missense	possibly damaging	0.85
R7652:Setd5	UTSW	6	113,121,764 (GRCm38)	missense	probably damaging	1.00
R7986:Setd5	UTSW	6	113,128,457 (GRCm38)	missense	probably benign	0.00
R8083:Setd5	UTSW	6	113,115,010 (GRCm38)	missense	probably damaging	1.00
R8175:Setd5	UTSW	6	113,114,913 (GRCm38)	missense	probably damaging	1.00
R8252:Setd5	UTSW	6	113,150,955 (GRCm38)	missense	probably benign	0.01
R8268:Setd5	UTSW	6	113,149,690 (GRCm38)	critical splice donor site	probably null
R8271:Setd5	UTSW	6	113,115,070 (GRCm38)	missense	possibly damaging	0.58
R8424:Setd5	UTSW	6	113,149,683 (GRCm38)	missense	probably benign	0.12
R8508:Setd5	UTSW	6	113,121,087 (GRCm38)	missense	probably damaging	1.00
R8801:Setd5	UTSW	6	113,150,892 (GRCm38)	missense	possibly damaging	0.95
R8864:Setd5	UTSW	6	113,111,508 (GRCm38)	missense	probably damaging	1.00
R9227:Setd5	UTSW	6	113,121,794 (GRCm38)	missense	possibly damaging	0.92
R9522:Setd5	UTSW	6	113,115,034 (GRCm38)	missense	probably damaging	1.00
R9588:Setd5	UTSW	6	113,144,064 (GRCm38)	missense	probably damaging	1.00
R9660:Setd5	UTSW	6	113,151,405 (GRCm38)	missense	probably benign	0.13
R9711:Setd5	UTSW	6	113,116,102 (GRCm38)	missense	probably damaging	1.00
R9728:Setd5	UTSW	6	113,151,405 (GRCm38)	missense	probably benign	0.13
X0017:Setd5	UTSW	6	113,150,168 (GRCm38)	missense	probably null	1.00
Z1176:Setd5	UTSW	6	113,138,096 (GRCm38)	missense	probably benign
Z1191:Setd5	UTSW	6	113,114,996 (GRCm38)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGTTGATACCTAAGCCACTCAC -3'
(R):5'- GGAAATGAATGTGTAACTTCCCACC -3'

Sequencing Primer
(F):5'- GTTGATACCTAAGCCACTCACTAATG -3'
(R):5'- TAAACTTACCACCTACTGCTGATG -3'

Posted On

2019-09-13