Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Setd1a'

359812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Setd1a

Ensembl Gene

ENSMUSG00000042308

Gene Name

SET domain containing 1A

Synonyms

KMT2F

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

127776670-127800122 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127791350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 523 (S523F)

Ref Sequence

ENSEMBL: ENSMUSP00000145647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000154987]

AlphaFold

E9PYH6

Predicted Effect

unknown
Transcript: ENSMUST00000047075
AA Change: S1066F

SMART Domains

Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308
AA Change: S1066F

Domain	Start	End	E-Value	Type
RRM	95	168	7.6e-6	SMART
low complexity region	209	242	N/A	INTRINSIC
low complexity region	278	295	N/A	INTRINSIC
low complexity region	315	357	N/A	INTRINSIC
low complexity region	427	487	N/A	INTRINSIC
Blast:SET	488	976	N/A	BLAST
low complexity region	977	1007	N/A	INTRINSIC
low complexity region	1015	1079	N/A	INTRINSIC
low complexity region	1087	1098	N/A	INTRINSIC
low complexity region	1122	1152	N/A	INTRINSIC
low complexity region	1157	1173	N/A	INTRINSIC
Blast:SET	1193	1310	2e-24	BLAST
low complexity region	1311	1368	N/A	INTRINSIC
low complexity region	1369	1396	N/A	INTRINSIC
N-SET	1428	1567	6.75e-64	SMART
SET	1577	1700	3.22e-35	SMART
PostSET	1700	1716	1.16e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000047157
AA Change: S1066F

SMART Domains

Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308
AA Change: S1066F

Domain	Start	End	E-Value	Type
RRM	95	168	7.6e-6	SMART
low complexity region	209	242	N/A	INTRINSIC
low complexity region	278	295	N/A	INTRINSIC
low complexity region	315	357	N/A	INTRINSIC
low complexity region	427	487	N/A	INTRINSIC
Blast:SET	488	976	N/A	BLAST
low complexity region	977	1007	N/A	INTRINSIC
low complexity region	1015	1079	N/A	INTRINSIC
low complexity region	1087	1098	N/A	INTRINSIC
low complexity region	1122	1152	N/A	INTRINSIC
low complexity region	1157	1173	N/A	INTRINSIC
Blast:SET	1193	1310	2e-24	BLAST
low complexity region	1311	1368	N/A	INTRINSIC
low complexity region	1369	1396	N/A	INTRINSIC
N-SET	1428	1567	6.75e-64	SMART
SET	1577	1700	3.22e-35	SMART
PostSET	1700	1716	1.16e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000154987
AA Change: S523F

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]
PHENOTYPE: Animals homozygous for this allele were dead by E7.5 [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,090,587	V131M	probably benign	Het
Abca6	A	T	11: 110,188,681	C1216S	probably damaging	Het
Acly	T	C	11: 100,478,410	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,293,731		probably null	Het
Adgrb1	C	A	15: 74,547,622	L771I	probably damaging	Het
Adh7	A	T	3: 138,223,737	K89I	probably damaging	Het
Adora2b	A	T	11: 62,265,483	I253F	possibly damaging	Het
Akna	G	A	4: 63,377,706	P975S	possibly damaging	Het
Alg9	T	C	9: 50,842,748	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,849,918	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,644,821	S908T	probably benign	Het
Atp1a4	C	T	1: 172,227,299		probably null	Het
Cabin1	T	C	10: 75,746,739	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,299,561	F1312L	probably benign	Het
Cfap65	A	C	1: 74,927,178	F330C	probably damaging	Het
Col27a1	C	T	4: 63,315,583	P689S	unknown	Het
Col4a3	A	T	1: 82,718,803	K1643N	probably damaging	Het
Dopey2	T	A	16: 93,801,572	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,870,256		probably benign	Het
Ergic3	C	A	2: 156,017,850	T357K	probably damaging	Het
Glra1	A	T	11: 55,536,400	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,301,593	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,346,590	S382P	probably damaging	Het
Kat6a	G	A	8: 22,938,300	E1224K	probably damaging	Het
Klk13	A	G	7: 43,721,414	E29G	possibly damaging	Het
Klra9	T	C	6: 130,188,680	D124G	probably benign	Het
Lrmda	T	C	14: 22,019,910		probably null	Het
Ltbp1	G	A	17: 75,282,994	V539M	probably damaging	Het
Ngfr	A	C	11: 95,571,861	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,922,435	H151Q	probably damaging	Het
Nnt	A	G	13: 119,357,646	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,866,172	V158M	probably damaging	Het
Olfr266	T	C	3: 106,822,140	T140A	probably damaging	Het
Olfr716	T	C	7: 107,148,218	F301L	probably benign	Het
Olfr828	C	T	9: 18,815,958	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,303,369	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,295,194	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,746,112	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,723	V73A	probably damaging	Het
Relb	A	T	7: 19,613,864	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,733,811	L382*	probably null	Het
Slamf8	A	G	1: 172,588,130	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,298,877	A88T	probably benign	Het
Sox6	C	T	7: 115,541,649	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,681,820	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,625,027	D1710A	probably benign	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Vangl1	A	T	3: 102,163,423	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,474,844	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,411,229	M1V	probably null	Het
Wdfy4	T	C	14: 33,095,305	I1561V	probably benign	Het
Xkr9	A	G	1: 13,700,803	D181G	probably damaging	Het
Zfp318	T	C	17: 46,409,178	F1101L	probably damaging	Het
Zfpm2	C	A	15: 41,103,013	Q833K	probably benign	Het

Other mutations in Setd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02508:Setd1a	APN	7	127797698	unclassified	probably benign
IGL02657:Setd1a	APN	7	127795825	unclassified	probably benign
IGL02876:Setd1a	APN	7	127778501	splice site	probably benign
IGL02967:Setd1a	APN	7	127785177	unclassified	probably benign
IGL03090:Setd1a	APN	7	127786500	missense	possibly damaging	0.83
IGL03238:Setd1a	APN	7	127785546	missense	possibly damaging	0.86
FR4449:Setd1a	UTSW	7	127785326	unclassified	probably benign
FR4548:Setd1a	UTSW	7	127785307	unclassified	probably benign
FR4548:Setd1a	UTSW	7	127785313	unclassified	probably benign
FR4589:Setd1a	UTSW	7	127785297	unclassified	probably benign
FR4737:Setd1a	UTSW	7	127785312	unclassified	probably benign
FR4976:Setd1a	UTSW	7	127785307	unclassified	probably benign
FR4976:Setd1a	UTSW	7	127785316	unclassified	probably benign
R0367:Setd1a	UTSW	7	127788186	splice site	probably benign
R0411:Setd1a	UTSW	7	127796051	unclassified	probably benign
R0416:Setd1a	UTSW	7	127785297	unclassified	probably benign
R0470:Setd1a	UTSW	7	127785057	unclassified	probably benign
R0645:Setd1a	UTSW	7	127787210	missense	probably damaging	0.96
R0667:Setd1a	UTSW	7	127786593	missense	probably damaging	0.99
R1251:Setd1a	UTSW	7	127797424	unclassified	probably benign
R1465:Setd1a	UTSW	7	127788340	unclassified	probably benign
R1465:Setd1a	UTSW	7	127788340	unclassified	probably benign
R1660:Setd1a	UTSW	7	127796669	unclassified	probably benign
R1730:Setd1a	UTSW	7	127785124	nonsense	probably null
R1760:Setd1a	UTSW	7	127785890	missense	possibly damaging	0.68
R1783:Setd1a	UTSW	7	127785124	nonsense	probably null
R2149:Setd1a	UTSW	7	127786518	missense	possibly damaging	0.75
R2159:Setd1a	UTSW	7	127785489	missense	possibly damaging	0.91
R2303:Setd1a	UTSW	7	127799155	unclassified	probably benign
R2679:Setd1a	UTSW	7	127795724	unclassified	probably benign
R3428:Setd1a	UTSW	7	127785321	unclassified	probably benign
R4108:Setd1a	UTSW	7	127799202	unclassified	probably benign
R4227:Setd1a	UTSW	7	127796647	unclassified	probably benign
R4438:Setd1a	UTSW	7	127785731	missense	possibly damaging	0.83
R4730:Setd1a	UTSW	7	127797330	unclassified	probably benign
R4869:Setd1a	UTSW	7	127797604	unclassified	probably benign
R4892:Setd1a	UTSW	7	127778524	missense	probably damaging	0.99
R5152:Setd1a	UTSW	7	127784025	missense	probably benign
R5502:Setd1a	UTSW	7	127797248	critical splice donor site	probably null
R5527:Setd1a	UTSW	7	127785629	missense	probably damaging	0.99
R6189:Setd1a	UTSW	7	127778283	splice site	probably null
R6250:Setd1a	UTSW	7	127791299	missense	unknown
R7131:Setd1a	UTSW	7	127796418	small deletion	probably benign
R7988:Setd1a	UTSW	7	127786194	missense	probably benign	0.02
R8029:Setd1a	UTSW	7	127786214	missense	probably benign	0.08
R8079:Setd1a	UTSW	7	127785053	missense	unknown
R8171:Setd1a	UTSW	7	127791227	missense	unknown
R8175:Setd1a	UTSW	7	127796243	missense	unknown
R8286:Setd1a	UTSW	7	127786184	missense	possibly damaging	0.96
R8327:Setd1a	UTSW	7	127791497	missense	unknown
R8460:Setd1a	UTSW	7	127784120	missense	unknown
R8547:Setd1a	UTSW	7	127796504	unclassified	probably benign
R8699:Setd1a	UTSW	7	127786602	missense	possibly damaging	0.53
R8822:Setd1a	UTSW	7	127786160	missense	possibly damaging	0.86
R8968:Setd1a	UTSW	7	127786107	missense	possibly damaging	0.93
R9063:Setd1a	UTSW	7	127786386	missense	possibly damaging	0.91
R9178:Setd1a	UTSW	7	127786418	missense	possibly damaging	0.93
R9672:Setd1a	UTSW	7	127786065	missense	possibly damaging	0.96
R9700:Setd1a	UTSW	7	127786580	missense	possibly damaging	0.53
RF001:Setd1a	UTSW	7	127785314	unclassified	probably benign
RF008:Setd1a	UTSW	7	127785314	unclassified	probably benign
RF011:Setd1a	UTSW	7	127785343	unclassified	probably benign
RF014:Setd1a	UTSW	7	127785346	unclassified	probably benign
RF030:Setd1a	UTSW	7	127785301	unclassified	probably benign
RF030:Setd1a	UTSW	7	127785311	unclassified	probably benign
RF031:Setd1a	UTSW	7	127785311	unclassified	probably benign
RF036:Setd1a	UTSW	7	127785300	unclassified	probably benign
RF041:Setd1a	UTSW	7	127785332	unclassified	probably benign
RF052:Setd1a	UTSW	7	127785357	unclassified	probably benign
RF055:Setd1a	UTSW	7	127785299	unclassified	probably benign
RF056:Setd1a	UTSW	7	127785303	unclassified	probably benign
RF056:Setd1a	UTSW	7	127785328	unclassified	probably benign
RF058:Setd1a	UTSW	7	127785318	unclassified	probably benign
Z1176:Setd1a	UTSW	7	127799094	missense	unknown

Posted On

2015-12-18