Mutagenetix > Incidental Mutation

Incidental Mutation 'R9227:Setd5'

699926

Institutional Source

Beutler Lab

Gene Symbol

Setd5

Ensembl Gene

ENSMUSG00000034269

Gene Name

SET domain containing 5

Synonyms

2900045N06Rik

MMRRC Submission

068984-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9227 (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 113098755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 796 (F796S)

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: F777S

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: F777S

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: F796S

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: F796S

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: F796S

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: F796S

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: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,157,626 (GRCm39)	F274I	probably damaging	Het
Adprhl1	C	T	8: 13,271,974 (GRCm39)	V1595I	probably benign	Het
Anxa6	A	G	11: 54,898,694 (GRCm39)	V160A	probably benign	Het
Appl1	T	C	14: 26,645,692 (GRCm39)	E706G	unknown	Het
Arhgap21	T	C	2: 20,860,469 (GRCm39)	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Atp1a1	A	T	3: 101,499,750 (GRCm39)	C111S	probably damaging	Het
Atp6v0d2	T	A	4: 19,878,374 (GRCm39)	M300L	probably benign	Het
C1ra	T	C	6: 124,493,739 (GRCm39)	C164R	probably damaging	Het
Cacna1h	T	C	17: 25,599,856 (GRCm39)	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,516,053 (GRCm39)	I563T	probably benign	Het
Cblif	G	A	19: 11,737,748 (GRCm39)	W386*	probably null	Het
Cd180	TA	TAA	13: 102,841,514 (GRCm39)		probably null	Het
Cd55b	A	T	1: 130,350,619 (GRCm39)	L26*	probably null	Het
Cdc42bpa	A	G	1: 179,933,638 (GRCm39)	N759S	probably benign	Het
Cenpj	C	T	14: 56,802,176 (GRCm39)	E130K	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chd7	C	T	4: 8,805,272 (GRCm39)	S777L	probably benign	Het
Chrm3	C	A	13: 9,928,479 (GRCm39)	V186L	probably benign	Het
Clrn2	A	G	5: 45,621,283 (GRCm39)	T226A	probably damaging	Het
Col3a1	C	T	1: 45,383,138 (GRCm39)	P1071S	unknown	Het
Dytn	A	T	1: 63,686,611 (GRCm39)	V353D	probably benign	Het
Egfem1	G	A	3: 29,411,317 (GRCm39)	E155K	probably benign	Het
Eif3m	A	T	2: 104,831,705 (GRCm39)	M285K	probably damaging	Het
Fam135b	T	C	15: 71,335,856 (GRCm39)	K446R	probably benign	Het
Fam186a	T	C	15: 99,853,384 (GRCm39)	T119A	unknown	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Fubp3	A	G	2: 31,502,564 (GRCm39)	H449R	probably benign	Het
Fyco1	A	T	9: 123,648,211 (GRCm39)	I1241N	probably damaging	Het
Gabpb2	A	T	3: 95,111,998 (GRCm39)	M77K	probably damaging	Het
Gfpt1	T	A	6: 87,027,906 (GRCm39)	I4K	probably damaging	Het
Glis1	T	C	4: 107,425,327 (GRCm39)	S313P	probably benign	Het
Golga4	T	A	9: 118,385,941 (GRCm39)	M1021K	possibly damaging	Het
Grid2ip	G	A	5: 143,359,194 (GRCm39)	R270Q	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Ifit1	A	G	19: 34,625,236 (GRCm39)	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,489,752 (GRCm39)	D95G	probably benign	Het
Ilkap	A	C	1: 91,314,937 (GRCm39)	I142S	probably benign	Het
Inpp5e	C	T	2: 26,288,616 (GRCm39)	R588H	probably damaging	Het
Kif1b	A	C	4: 149,322,357 (GRCm39)	M854R	probably damaging	Het
Lcn6	A	T	2: 25,570,107 (GRCm39)	K91M	probably damaging	Het
Lpin1	A	T	12: 16,588,483 (GRCm39)	S902R	unknown	Het
Lrig1	C	A	6: 94,607,113 (GRCm39)	C160F	probably damaging	Het
Mapk13	T	C	17: 28,994,532 (GRCm39)	I141T	probably damaging	Het
Mapkapk3	A	G	9: 107,137,354 (GRCm39)	L175P	probably damaging	Het
Micall2	A	G	5: 139,701,827 (GRCm39)	V472A	unknown	Het
Mmp15	T	C	8: 96,092,959 (GRCm39)	F113L	probably benign	Het
Msh2	T	G	17: 88,026,717 (GRCm39)	S738A	probably benign	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo1f	T	C	17: 33,795,424 (GRCm39)	V53A	probably damaging	Het
Ncf1	A	T	5: 134,250,718 (GRCm39)	N367K	probably benign	Het
Nim1k	C	A	13: 120,174,118 (GRCm39)	V259F	probably damaging	Het
Nme8	T	G	13: 19,874,384 (GRCm39)	I139L	probably benign	Het
Odam	T	C	5: 88,034,457 (GRCm39)	F46L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or7a42	G	A	10: 78,791,929 (GRCm39)	D297N	possibly damaging	Het
Pcare	A	G	17: 72,057,217 (GRCm39)	L820P	probably damaging	Het
Pcdha9	A	G	18: 37,131,954 (GRCm39)	E341G	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Poglut1	A	T	16: 38,355,168 (GRCm39)	D219E	possibly damaging	Het
Racgap1	A	G	15: 99,534,078 (GRCm39)	S145P	possibly damaging	Het
Rasgef1a	C	T	6: 118,066,110 (GRCm39)	T441I	possibly damaging	Het
Rbm6	T	C	9: 107,664,498 (GRCm39)	T844A	probably benign	Het
Rbmyf9	T	G	Y: 3,774,819 (GRCm39)	D5E	probably damaging	Het
Rell1	T	C	5: 64,097,105 (GRCm39)		probably benign	Het
Ripk3	A	G	14: 56,023,303 (GRCm39)	F134S	probably benign	Het
Rnf169	T	C	7: 99,574,699 (GRCm39)	D632G	possibly damaging	Het
Sclt1	A	T	3: 41,665,631 (GRCm39)	W146R	probably benign	Het
Slc24a5	G	T	2: 124,922,568 (GRCm39)	G110V	probably damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Slc38a10	T	A	11: 119,996,781 (GRCm39)	D772V	probably benign	Het
Thy1	C	T	9: 43,958,004 (GRCm39)	T44I	probably damaging	Het
Tinagl1	G	T	4: 130,061,271 (GRCm39)	S324Y	probably benign	Het
Tll2	T	A	19: 41,093,436 (GRCm39)	Y477F	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmco6	T	C	18: 36,874,719 (GRCm39)	L402P	probably damaging	Het
Tnrc18	G	T	5: 142,773,392 (GRCm39)	A479D		Het
Uba7	T	C	9: 107,853,001 (GRCm39)	V12A	possibly damaging	Het
Usp5	T	C	6: 124,795,599 (GRCm39)	D598G	probably damaging	Het
Vmn1r158	C	T	7: 22,489,469 (GRCm39)	V247I	probably benign	Het
Vpreb1b	A	G	16: 17,798,801 (GRCm39)	N96D	probably damaging	Het
Zcchc17	A	T	4: 130,230,928 (GRCm39)	M87K	probably damaging	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
R7058:Setd5	UTSW	6	113,092,532 (GRCm39)	missense	probably benign	0.16
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
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'- GAGTGTCCTTTGCGTATCACC -3'
(R):5'- ACCACAGTGACTTCTAAAGAGTC -3'

Sequencing Primer
(F):5'- ACCACTGACCCAACTGTGTTG -3'
(R):5'- CAGTGACTTCTAAAGAGTCTACTTCC -3'

Posted On

2022-02-07