Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4589:Setd1a'

511356

Institutional Source

Beutler Lab

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 #

FR4589 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

127776670-127800122 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG to CTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG at 127785297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000126761] [ENSMUST00000144406] [ENSMUST00000154987]

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: 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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000154987

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.4%
20x: 96.1%

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: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	TCC	TCCCCC	2: 130,770,745		probably benign	Het
4930402H24Rik	CC	CCTGC	2: 130,770,752		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Het
7530416G11Rik	T	A	15: 85,494,307	E45V	unknown	Homo
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,163,381		probably benign	Homo
Anxa2	C	CCCA	9: 69,480,210		probably benign	Het
Apol6	GTTT	GTTTTTTT	15: 77,051,438		probably null	Het
Arrb2	C	T	11: 70,438,671	T269M	probably damaging	Homo
AY761185	CACTGTGGG	C	8: 20,943,903		probably null	Het
BC051142	GCA	GCACCA	17: 34,460,053		probably benign	Het
BC051142	AGC	AGCCGC	17: 34,460,073		probably benign	Het
Bcas3	G	A	11: 85,509,497	V431I	probably benign	Homo
Blm	TACC	TACCGACC	7: 80,463,770		probably null	Het
Btnl10	AGA	AGAGGA	11: 58,923,929		probably benign	Homo
Btnl4	T	A	17: 34,472,636	K293M	probably benign	Het
Catsper2	TGTC	TGTCGTC	2: 121,397,779		probably benign	Het
Cd109	ATTTAT	ATTTATTTATTTCTTTAT	9: 78,712,529		probably benign	Het
Cd164	G	T	10: 41,521,926	A59S	probably benign	Homo
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Homo
Chd4	C	T	6: 125,122,133	P1597L	probably benign	Homo
Chd4	CCCCTGCCCCTGCCACTGCCCCTGCC	CCCCTGCCCCTGCCCCTGCCACTGCCCCTGCC	6: 125,122,139		probably benign	Homo
Chga	AGC	AGCTGC	12: 102,561,402		probably benign	Het
Cluh	AGCC	AGCCTGGGCC	11: 74,669,531		probably benign	Het
Cnpy3	ACCC	ACCCCCC	17: 46,736,739		probably benign	Het
Cntnap1	CCCAGC	CCCAGCTCCAGC	11: 101,189,566		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,575		probably benign	Het
Cntnap1	CAGCCC	CAGCCCGAGCCC	11: 101,189,580		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,581		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Het
Col6a5	A	T	9: 105,934,174	N715K	unknown	Homo
Cttnbp2	ATT	ATTTCTGTT	6: 18,367,458		probably benign	Het
D230025D16Rik	G	A	8: 105,241,098	G207E	probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,677		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,680		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,683		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,583,696		probably benign	Het
Dclre1a	AGGCTTTG	AG	19: 56,544,123		probably benign	Het
Dcpp1	A	C	17: 23,881,454	K53Q	probably benign	Het
Dhx8	CGAGAC	CGAGACAGAGAC	11: 101,738,188		probably benign	Homo
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dthd1	C	CTT	5: 62,843,026		probably null	Homo
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,874,764		probably benign	Het
Eps8	AC	ACTCGC	6: 137,517,069		probably null	Het
Ermn	TTC	TTCATC	2: 58,048,069		probably benign	Het
Fam81b	TC	TCTCC	13: 76,271,323		probably benign	Het
Fbrsl1	TG	TGCGTGTGCTGGCG	5: 110,378,150		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,100		probably benign	Het
Fbxo43	CCTGTG	CCTGTGTCTGTG	15: 36,152,101		probably benign	Het
Fmn1	CTCCTC	CTCCTCTTCCTC	2: 113,525,773		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,525,774		probably benign	Het
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gabre	GCTCCGACTCCGACTCCG	GCTCCGACTCCGACTCCGACTCCG	X: 72,270,030		probably benign	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 72,270,042		probably benign	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gm10324	G	A	13: 66,122,208	S396N	probably benign	Het
Gm4340	CAG	CAGTAG	10: 104,196,078		probably null	Het
Gm4340	AGC	AGCCGC	10: 104,196,079		probably benign	Het
Gm4340	AG	AGCCG	10: 104,196,100		probably benign	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Het
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Ipo9	CCATC	CCATCATC	1: 135,386,266		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,386,281		probably benign	Het
Isg20l2	GAAA	GAAAAAA	3: 87,931,717		probably benign	Homo
Klra9	C	G	6: 130,182,403	D216H	probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,361		probably benign	Het
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,586,364		probably null	Het
Kmt2b	TCC	TCCTCCGCC	7: 30,586,381		probably benign	Het
Krt10	TCC	TCCGCCGCC	11: 99,389,276		probably benign	Het
Las1l	TCTTCC	TCTTCCGCTTCC	X: 95,940,619		probably benign	Het
Las1l	TTCCTCCTCCTC	TTCCTC	X: 95,940,621		probably benign	Het
Las1l	TC	TCTTCCAC	X: 95,940,625		probably benign	Het
Lce1m	TGCTGCCACC	TGCTGCCACCACGGCTGCCACC	3: 93,018,268		probably benign	Homo
Lor	GCCGCCGCC	GC	3: 92,081,894		probably null	Het
Lrit3	AC	ACATCC	3: 129,803,913		probably null	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,125,182		probably benign	Homo
Mapk7	GG	GGTGCTAG	11: 61,490,222		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,275,956		probably benign	Het
Nacad	GGGTCA	GGGTCATGGTCA	11: 6,599,753		probably benign	Het
Ndufc2	G	C	7: 97,400,290	M34I	probably benign	Het
Nphp3	CACG	C	9: 104,025,939		probably benign	Het
Nrg3	AG	AGCCTTTG	14: 38,397,266		probably benign	Het
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGATTTTGTTTT	4: 134,279,368		probably null	Homo
Pdik1l	TTTTGTTTT	TTTTGTTTTGTGTTTGTTTT	4: 134,279,369		probably null	Homo
Plekhs1	AC	ACCTCCCCCGAGGC	19: 56,479,863		probably benign	Het
Prag1	CCGC	CCGCCGC	8: 36,103,883		probably benign	Homo
Prtg	G	A	9: 72,856,865	R540Q	probably damaging	Het
Raet1d	T	TCCTCTCTGGTAG	10: 22,370,918		probably null	Homo
Rhbdf1	A	ATTTT	11: 32,214,391		probably benign	Het
Rps19	AAAATT	AAAATTGAAATT	7: 24,889,182		probably benign	Het
Rtbdn	GGCAGC	GGCAGCCGCAGC	8: 84,956,171		probably benign	Het
Scaf4	TGCGGC	TGC	16: 90,229,854		probably benign	Homo
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Shf	TCT	TCTGCT	2: 122,354,177		probably benign	Homo
Shroom4	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	X: 6,624,061		probably benign	Homo
Six3	CGG	CGGAGG	17: 85,621,365		probably benign	Het
Snx1	TCT	TCTCCT	9: 66,104,926		probably benign	Homo
Spag17	AGG	AGGGGG	3: 100,056,245		probably benign	Het
Spag17	GGA	GGATGA	3: 100,056,258		probably benign	Het
Speer4a	C	A	5: 26,036,748	E127*	probably null	Het
Sry	ACTG	ACTGCTG	Y: 2,662,818		probably benign	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,727,651		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,655		probably benign	Het
Supt20	A	AGCAGCT	3: 54,727,671		probably benign	Het
Tcof1	GGGTA	G	18: 60,828,650		probably benign	Homo
Tert	C	CAAGGGTGCG	13: 73,648,304		probably benign	Het
Tmbim7	C	T	5: 3,670,064	R100C	possibly damaging	Het
Tmed6	C	CTAGA	8: 107,061,598		probably null	Homo
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Tob1	CA	CAGCAA	11: 94,214,477		probably null	Het
Trcg1	AGCTCCTGTGTCTGT	A	9: 57,242,202		probably null	Homo
Trim16	A	AAGC	11: 62,820,695		probably benign	Homo
Tubgcp4	GTGA	G	2: 121,175,463		probably benign	Het
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,335,307		probably benign	Het
Ubtf	CTCTTC	CTCTTCTTC	11: 102,306,943		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,306,945		probably benign	Het
Vars	GTGG	GTGGAGTCCTGGTTGG	17: 35,015,988		probably benign	Homo
Vmn2r52	C	T	7: 10,159,020	E731K	probably damaging	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,323,592		probably benign	Homo
Zc3h13	TGTGCGAG	TGTGCGAGGAGTGCGAG	14: 75,323,597		probably benign	Het
Zc3h13	GTGCGAGAT	GTGCGAGATTTGCGAGAT	14: 75,323,598		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGAAGCA	8: 108,956,101		probably benign	Het
Zfp282	GGC	GGCAGC	6: 47,904,791		probably benign	Het
Zfp459	GA	GAGTTA	13: 67,408,275		probably null	Homo
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,779		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,645,468		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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGAAAGCTGGAATCGTTACCAG -3'
(R):5'- GGAATCCAAACTGCTGTGCTG -3'

Sequencing Primer
(F):5'- GAATCGTTACCAGCGCCATACTTC -3'
(R):5'- TGCTGTGCTGAGCAAAGG -3'

Posted On

2018-04-05