Mutagenetix > Incidental Mutation

Incidental Mutation 'R7058:Setd5'

548054

Institutional Source

Beutler Lab

Gene Symbol

Setd5

Ensembl Gene

ENSMUSG00000034269

Gene Name

SET domain containing 5

Synonyms

2900045N06Rik

MMRRC Submission

045155-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7058 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113054326-113130393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113092532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 304 (I304T)

Ref Sequence

ENSEMBL: ENSMUSP00000108782 (fasta)

Gene Model

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

AlphaFold

Q5XJV7

Predicted Effect

probably benign
Transcript: ENSMUST00000042889
AA Change: I285T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: I285T

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: I304T

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: I304T

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: I304T

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: I304T

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: 99.0%

Validation Efficiency

100% (87/87)

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
2610021A01Rik	T	C	7: 41,275,554 (GRCm39)	I419T	possibly damaging	Het
Afap1	T	C	5: 36,119,604 (GRCm39)	V294A	probably benign	Het
Amotl1	T	A	9: 14,486,532 (GRCm39)	Q454L	possibly damaging	Het
Ap2a1	T	C	7: 44,550,215 (GRCm39)	S961G	probably damaging	Het
Asxl3	A	G	18: 22,650,731 (GRCm39)	K907E	probably damaging	Het
BC028528	A	T	3: 95,792,323 (GRCm39)	L137I	possibly damaging	Het
Cand1	A	T	10: 119,047,659 (GRCm39)	N610K	probably benign	Het
Cat	A	G	2: 103,304,698 (GRCm39)	I109T	probably benign	Het
Ccdc18	T	C	5: 108,341,664 (GRCm39)	V853A	probably benign	Het
Chd4	C	A	6: 125,085,405 (GRCm39)	D805E	possibly damaging	Het
Cnih1	A	C	14: 47,017,652 (GRCm39)	F77V	probably damaging	Het
Cntd1	A	T	11: 101,178,252 (GRCm39)	I284F	probably damaging	Het
Col6a3	C	A	1: 90,755,759 (GRCm39)	E177*	probably null	Het
Cpxm2	T	A	7: 131,745,408 (GRCm39)	D139V	probably benign	Het
Cyp1a2	G	T	9: 57,584,525 (GRCm39)	R510S	probably damaging	Het
D2hgdh	T	C	1: 93,763,096 (GRCm39)	S294P	probably damaging	Het
Dchs1	A	G	7: 105,406,228 (GRCm39)	C2335R	probably benign	Het
Disc1	G	T	8: 125,977,724 (GRCm39)	C719F	probably damaging	Het
Dnah14	A	C	1: 181,525,614 (GRCm39)	D2180A	probably benign	Het
Dop1b	G	A	16: 93,573,878 (GRCm39)	R1582Q	probably benign	Het
Dsg2	A	T	18: 20,725,332 (GRCm39)	H481L	probably benign	Het
Epha6	A	G	16: 59,503,013 (GRCm39)	S965P	probably damaging	Het
Esrrg	G	T	1: 187,882,503 (GRCm39)	L253F	probably damaging	Het
Exoc6b	T	C	6: 84,831,704 (GRCm39)	K438R	probably damaging	Het
Fam98a	C	A	17: 75,845,384 (GRCm39)	R454L	unknown	Het
Fam98c	A	T	7: 28,855,308 (GRCm39)		probably null	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Galnt13	A	G	2: 54,988,587 (GRCm39)	T470A	probably damaging	Het
Ggt7	A	T	2: 155,345,015 (GRCm39)		probably null	Het
Golim4	T	C	3: 75,785,957 (GRCm39)	E606G	probably damaging	Het
Gpd2	G	A	2: 57,197,112 (GRCm39)		probably null	Het
Grin2b	T	C	6: 135,757,304 (GRCm39)	M386V	probably damaging	Het
Hfm1	A	T	5: 107,059,306 (GRCm39)	S239T	probably benign	Het
Hmcn1	G	A	1: 150,649,641 (GRCm39)	T615I	probably benign	Het
Hook2	G	A	8: 85,724,040 (GRCm39)	E446K	possibly damaging	Het
Hsd3b1	C	T	3: 98,765,131 (GRCm39)		probably null	Het
Igsf9b	A	G	9: 27,234,150 (GRCm39)	Y421C	probably damaging	Het
Il21	A	G	3: 37,286,629 (GRCm39)	L29P	probably damaging	Het
Ildr1	A	G	16: 36,542,730 (GRCm39)	S421G	probably benign	Het
Kat2b	C	A	17: 53,972,894 (GRCm39)	T736K	probably benign	Het
Kcng1	A	G	2: 168,104,529 (GRCm39)	V439A	probably damaging	Het
Kif21a	A	T	15: 90,833,106 (GRCm39)		probably null	Het
Lat	A	G	7: 125,968,318 (GRCm39)		probably null	Het
Mastl	T	A	2: 23,023,425 (GRCm39)	K433*	probably null	Het
Mettl2	A	G	11: 105,019,719 (GRCm39)	R119G	probably benign	Het
Mia2	C	T	12: 59,231,021 (GRCm39)	P1223L	possibly damaging	Het
Mkrn2os	G	T	6: 115,563,635 (GRCm39)	D133E	probably benign	Het
Mslnl	A	G	17: 25,962,186 (GRCm39)	T195A	probably benign	Het
Muc16	T	G	9: 18,551,051 (GRCm39)	T5081P	probably benign	Het
Mylpf	G	C	7: 126,813,139 (GRCm39)	R110P	probably damaging	Het
Myo19	G	T	11: 84,798,194 (GRCm39)	C738F	possibly damaging	Het
Nat8f4	T	A	6: 85,878,271 (GRCm39)	N84I	possibly damaging	Het
Nol8	C	T	13: 49,829,862 (GRCm39)	R1104C	probably damaging	Het
Notch1	A	T	2: 26,353,830 (GRCm39)	D1932E	probably benign	Het
Nsun3	A	T	16: 62,596,663 (GRCm39)	C152S	possibly damaging	Het
Opcml	G	A	9: 28,586,507 (GRCm39)	W75*	probably null	Het
Or14j10	A	G	17: 37,934,597 (GRCm39)	F310L	probably benign	Het
Pcdh7	G	A	5: 57,879,582 (GRCm39)	E1046K	probably damaging	Het
Pcdhb9	T	A	18: 37,536,334 (GRCm39)	V776D	probably benign	Het
Pla2g4a	A	G	1: 149,727,103 (GRCm39)	L551S	probably damaging	Het
Plaa	G	A	4: 94,458,060 (GRCm39)	Q637*	probably null	Het
Plekhh1	A	T	12: 79,122,204 (GRCm39)	E1099V	probably damaging	Het
Ppp4r1	A	T	17: 66,136,495 (GRCm39)	N551Y	probably benign	Het
R3hdm2	T	C	10: 127,320,382 (GRCm39)	V554A	probably damaging	Het
Rab44	A	G	17: 29,357,150 (GRCm39)		probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rasgrf2	T	C	13: 92,034,521 (GRCm39)	T1119A	probably damaging	Het
Rims2	A	G	15: 39,449,044 (GRCm39)	D1194G	probably damaging	Het
Scarb1	A	T	5: 125,374,294 (GRCm39)	C280S	probably damaging	Het
Sde2	T	C	1: 180,693,827 (GRCm39)	F439S	probably damaging	Het
Sipa1l1	A	G	12: 82,449,896 (GRCm39)	E1106G	probably benign	Het
Sis	T	G	3: 72,810,940 (GRCm39)	S1694R	probably damaging	Het
Smad9	T	A	3: 54,693,614 (GRCm39)	F181Y	probably benign	Het
Smg1	A	G	7: 117,797,502 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,425,516 (GRCm39)	Y46H	probably damaging	Het
Tdrd12	A	G	7: 35,177,534 (GRCm39)	M940T	unknown	Het
Tmem44	G	T	16: 30,366,213 (GRCm39)	T71K	possibly damaging	Het
Tmf1	T	A	6: 97,133,911 (GRCm39)	E1009V	probably damaging	Het
Ttc39a	C	T	4: 109,288,763 (GRCm39)	R288W	probably damaging	Het
Ttc9c	G	A	19: 8,796,191 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,950,456 (GRCm39)	Y634N	probably damaging	Het
Vmn1r211	C	T	13: 23,036,063 (GRCm39)	M201I	probably benign	Het
Vmn2r54	T	A	7: 12,349,722 (GRCm39)	Q620L	possibly damaging	Het
Vps13c	T	C	9: 67,831,110 (GRCm39)	L1580P	probably benign	Het
Vrk3	C	A	7: 44,417,890 (GRCm39)	F308L	probably damaging	Het
Zdbf2	T	A	1: 63,346,563 (GRCm39)	H1647Q	possibly damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	probably benign	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
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
R8864:Setd5	UTSW	6	113,088,469 (GRCm39)	missense	probably damaging	1.00
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'- ACCTTCTCTGGGACCACTAATTG -3'
(R):5'- CGAGCTTATTTGAATGACTCGTCAG -3'

Sequencing Primer
(F):5'- GTTTCCTGGAAACTTGAGATTATGTC -3'
(R):5'- TCGTCAGTCAGAACCATGC -3'

Posted On

2019-05-13