Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02876:Setd1a'

406249

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 #

IGL02876

Quality Score

Status

Chromosome

Chromosomal Location

127776670-127800122 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 127778501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000061587] [ENSMUST00000118865] [ENSMUST00000121504] [ENSMUST00000126761] [ENSMUST00000143951] [ENSMUST00000144406]

AlphaFold

E9PYH6

Predicted Effect

probably benign
Transcript: ENSMUST00000047075

SMART Domains

Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308

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

probably benign
Transcript: ENSMUST00000047157

SMART Domains

Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308

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

probably benign
Transcript: ENSMUST00000061587

SMART Domains

Protein: ENSMUSP00000050279
Gene: ENSMUSG00000043964

Domain	Start	End	E-Value	Type
Pfam:Orai-1	46	271	1.3e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118865

SMART Domains

Protein: ENSMUSP00000112382
Gene: ENSMUSG00000043964

Domain	Start	End	E-Value	Type
Pfam:Orai-1	42	165	1.5e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121504

SMART Domains

Protein: ENSMUSP00000113142
Gene: ENSMUSG00000043964

Domain	Start	End	E-Value	Type
Pfam:Orai-1	42	94	1.3e-16	PFAM
low complexity region	125	133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126761

SMART Domains

Protein: ENSMUSP00000120666
Gene: ENSMUSG00000042308

Domain	Start	End	E-Value	Type
RRM	95	168	7.6e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141439

Predicted Effect

probably benign
Transcript: ENSMUST00000143951

Predicted Effect

probably benign
Transcript: ENSMUST00000144406

SMART Domains

Protein: ENSMUSP00000115248
Gene: ENSMUSG00000042308

Domain	Start	End	E-Value	Type
RRM	95	168	7.6e-6	SMART
low complexity region	209	242	N/A	INTRINSIC

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,919,841	V564A	probably damaging	Het
Adamts15	A	T	9: 30,904,522	N679K	probably damaging	Het
Angpt1	T	G	15: 42,426,977	D497A	possibly damaging	Het
Asap2	A	G	12: 21,258,163	K849R	probably benign	Het
Aspm	T	C	1: 139,473,653	V1137A	probably damaging	Het
Atp12a	A	G	14: 56,373,289	I297V	probably benign	Het
Atp2a2	A	G	5: 122,466,008	V454A	probably benign	Het
Carmil1	T	A	13: 24,154,668		probably benign	Het
Csmd2	A	T	4: 128,321,335	K517*	probably null	Het
Csmd3	A	T	15: 47,606,096		probably benign	Het
Cyp2d11	T	A	15: 82,389,496	Q427L	possibly damaging	Het
Eml5	C	T	12: 98,858,841	V706M	probably damaging	Het
Entpd8	A	C	2: 25,085,060	S428R	probably benign	Het
Gm10283	T	C	8: 60,501,219		probably benign	Het
Gm13124	A	G	4: 144,555,773	Y150H	probably damaging	Het
Gpatch3	T	A	4: 133,580,684	V363E	probably damaging	Het
Hoxb5	T	A	11: 96,303,768	M52K	probably damaging	Het
Ift52	T	C	2: 163,036,707	V307A	probably benign	Het
Igkv1-115	T	C	6: 68,161,440		noncoding transcript	Het
Kdm5a	T	C	6: 120,390,644		probably benign	Het
Lama1	T	A	17: 67,750,692		probably null	Het
Lrp6	G	A	6: 134,456,114	P1418L	probably benign	Het
Mill2	T	C	7: 18,856,507	F156L	probably damaging	Het
Mnat1	A	G	12: 73,170,604	R85G	probably damaging	Het
Myrip	A	T	9: 120,432,674	D451V	probably damaging	Het
Olfr397	A	T	11: 73,964,713	Y35F	possibly damaging	Het
Pdzph1	C	A	17: 58,974,069	S406I	probably benign	Het
Ptprb	A	G	10: 116,348,211		probably benign	Het
Rxfp4	T	A	3: 88,652,435	R236S	possibly damaging	Het
Ryr2	T	C	13: 11,707,793	M2604V	probably benign	Het
Spata33	A	T	8: 123,221,980	H88L	probably damaging	Het
Spcs3	A	T	8: 54,526,451	N98K	probably damaging	Het
Srgap3	A	G	6: 112,771,453	S413P	probably damaging	Het
Stap2	T	C	17: 55,999,961	R239G	probably benign	Het
Surf6	A	G	2: 26,892,626	Y230H	probably damaging	Het
Tasp1	C	T	2: 139,834,363	V382M	probably benign	Het
Tnc	G	T	4: 64,015,101	A642E	possibly damaging	Het
Vmn1r202	G	A	13: 22,501,470	T259I	probably benign	Het
Vmn2r110	T	A	17: 20,574,296	T704S	probably damaging	Het
Vtcn1	A	T	3: 100,883,829	D61V	probably damaging	Het
Zc3h12d	G	A	10: 7,862,600	M223I	probably damaging	Het
Zfp592	T	A	7: 81,038,127	S934T	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
IGL02792:Setd1a	APN	7	127791350	missense	unknown
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

2016-08-02