Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Setd5'

238099

Institutional Source

Beutler Lab

Gene Symbol

Setd5

Ensembl Gene

ENSMUSG00000034269

Gene Name

SET domain containing 5

Synonyms

2900045N06Rik

MMRRC Submission

040193-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113077365-113153435 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 113111429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 173 (Q173*)

Ref Sequence

ENSEMBL: ENSMUSP00000108782 (fasta)

Gene Model

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

AlphaFold

Q5XJV7

Predicted Effect

probably null
Transcript: ENSMUST00000042889
AA Change: Q154*

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: Q154*

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 null
Transcript: ENSMUST00000113155
AA Change: Q173*

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: Q173*

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 null
Transcript: ENSMUST00000113157
AA Change: Q173*

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: Q173*

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: ENSMUST00000143998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204377

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,866 (GRCm38)	S716P	possibly damaging	Het
Abcb5	A	C	12: 118,867,956 (GRCm38)	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,699,140 (GRCm38)	E479D	probably damaging	Het
Actn1	A	T	12: 80,171,802 (GRCm38)	L736*	probably null	Het
Adcyap1	A	G	17: 93,200,026 (GRCm38)	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,566,290 (GRCm38)	N958S	possibly damaging	Het
Armc1	T	A	3: 19,134,061 (GRCm38)	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,753,051 (GRCm38)	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,443,845 (GRCm38)	Q1370K	probably damaging	Het
Cdip1	C	T	16: 4,770,063 (GRCm38)	S12N	probably benign	Het
Chrna3	T	A	9: 55,016,045 (GRCm38)	I160F	probably damaging	Het
Cnot1	A	G	8: 95,761,426 (GRCm38)	I534T	probably damaging	Het
Cr2	T	A	1: 195,163,381 (GRCm38)	I465F	possibly damaging	Het
Daw1	A	G	1: 83,192,663 (GRCm38)	D232G	probably benign	Het
Dcaf6	T	C	1: 165,422,864 (GRCm38)	T144A	probably benign	Het
Dhx30	A	T	9: 110,086,118 (GRCm38)		probably null	Het
Dnah7a	A	G	1: 53,605,875 (GRCm38)	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,207,073 (GRCm38)	T184A	probably benign	Het
Dsg1b	T	C	18: 20,409,618 (GRCm38)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,847,816 (GRCm38)	V28I	possibly damaging	Het
Edem3	T	A	1: 151,796,883 (GRCm38)	V450D	probably damaging	Het
Ephb6	G	T	6: 41,616,085 (GRCm38)	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811 (GRCm38)	P608R	probably damaging	Het
Flrt1	A	G	19: 7,095,829 (GRCm38)	I451T	probably damaging	Het
Gm6309	A	T	5: 146,168,871 (GRCm38)	V161E	possibly damaging	Het
Heatr5b	A	G	17: 78,773,677 (GRCm38)	L1382P	probably damaging	Het
Igsf1	C	A	X: 49,783,150 (GRCm38)	L714F	probably damaging	Het
Inpp4b	C	T	8: 81,997,302 (GRCm38)	P488S	probably damaging	Het
Ints6l	T	A	X: 56,504,750 (GRCm38)	H678Q	probably benign	Het
Itprid1	A	T	6: 55,967,719 (GRCm38)	Q475L	probably benign	Het
Kdm2a	A	T	19: 4,356,931 (GRCm38)		probably null	Het
Khdrbs3	G	T	15: 69,092,960 (GRCm38)	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,861,049 (GRCm38)		probably null	Het
Laptm4a	T	C	12: 8,922,296 (GRCm38)		probably null	Het
Lrp2bp	C	T	8: 46,013,169 (GRCm38)	T105I	probably benign	Het
Lrrc37	A	C	11: 103,618,967 (GRCm38)		probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261 (GRCm38)		probably null	Het
Mtmr3	A	T	11: 4,499,032 (GRCm38)	W244R	probably damaging	Het
Myo18a	A	G	11: 77,818,615 (GRCm38)	D138G	probably damaging	Het
Nlrp9b	A	T	7: 20,023,662 (GRCm38)	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720 (GRCm38)	R719H	probably benign	Het
Omt2b	G	A	9: 78,328,175 (GRCm38)		probably benign	Het
Or2a54	T	C	6: 43,116,065 (GRCm38)	S108P	probably benign	Het
Or5h23	A	T	16: 59,085,675 (GRCm38)	D269E	probably benign	Het
Or8g23	A	T	9: 39,060,405 (GRCm38)	I87K	probably benign	Het
Pclo	C	T	5: 14,713,848 (GRCm38)	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,415,957 (GRCm38)	N477S	probably benign	Het
Phf20	T	C	2: 156,276,654 (GRCm38)	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,191,199 (GRCm38)		probably null	Het
Plagl1	A	C	10: 13,128,941 (GRCm38)		probably benign	Het
Ppip5k2	A	G	1: 97,744,110 (GRCm38)	V479A	probably damaging	Het
Prkdc	A	C	16: 15,698,824 (GRCm38)	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,888,598 (GRCm38)	V6I	probably benign	Het
Rictor	A	T	15: 6,759,614 (GRCm38)	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907 (GRCm38)		probably benign	Het
Rttn	T	C	18: 89,095,648 (GRCm38)		probably null	Het
Sipa1l1	T	A	12: 82,396,691 (GRCm38)	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,397 (GRCm38)	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,662,527 (GRCm38)	A52T	probably damaging	Het
Srebf1	T	C	11: 60,220,539 (GRCm38)	D2G	probably damaging	Het
Stab1	A	T	14: 31,142,800 (GRCm38)	M66K	probably benign	Het
Stab1	T	C	14: 31,159,270 (GRCm38)	N601S	probably damaging	Het
Sv2b	C	T	7: 75,124,088 (GRCm38)	G545D	probably damaging	Het
Syt5	G	A	7: 4,543,089 (GRCm38)	Q101*	probably null	Het
Thada	A	G	17: 84,446,521 (GRCm38)	F341L	probably benign	Het
Tln2	T	G	9: 67,355,221 (GRCm38)	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413 (GRCm38)		probably null	Het
Tonsl	G	T	15: 76,632,680 (GRCm38)	L917M	probably damaging	Het
Ttk	A	G	9: 83,862,183 (GRCm38)	K519E	probably damaging	Het
Ttn	T	C	2: 76,707,134 (GRCm38)	T34817A	probably benign	Het
Ubr1	A	T	2: 120,926,047 (GRCm38)	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566 (GRCm38)	C1312*	probably null	Het
Usp36	A	G	11: 118,285,023 (GRCm38)	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,099,233 (GRCm38)	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,502,885 (GRCm38)	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,108,139 (GRCm38)	F289L	probably benign	Het
Ythdf3	T	C	3: 16,203,211 (GRCm38)		probably benign	Het
Zfp507	T	A	7: 35,794,843 (GRCm38)	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,231,443 (GRCm38)	H156R	possibly 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
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
R7296:Setd5	UTSW	6	113,147,557 (GRCm38)	missense	probably benign	0.21
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'- ATCTTGTTTTCAGAAGAAAGGTGGG -3'
(R):5'- AACTGAGCCTGTGGTGATGG -3'

Sequencing Primer
(F):5'- TTTCAGAAGAAAGGTGGGGGTCTATG -3'
(R):5'- TACGAAGGTTAGAAGAGAGTTTGTTC -3'

Posted On

2014-10-02