Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4737:Setd1a'

511666

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 #

FR4737 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

127376561-127399294 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

GTGGTAGTG to GTGGTAGTGTTGGTAGTG at 127384484 bp (GRCm39)

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: 99.6%
10x: 98.8%
20x: 97.0%

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: 211 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TCT	TCTCCT	12: 110,634,882 (GRCm39)		probably benign	Het
A630001G21Rik	CTGTT	CT	1: 85,650,856 (GRCm39)		probably benign	Homo
Abcb11	C	A	2: 69,073,862 (GRCm39)	R1221L	probably damaging	Homo
Abcb4	GAAA	G	5: 8,946,597 (GRCm39)		probably benign	Homo
Ahdc1	CT	CTCGT	4: 132,790,070 (GRCm39)		probably benign	Homo
Alpk3	TCT	TCTACT	7: 80,727,510 (GRCm39)		probably benign	Het
Amfr	C	G	8: 94,731,787 (GRCm39)	G30R	probably damaging	Homo
Ankrd35	GC	GCTAC	3: 96,591,165 (GRCm39)		probably benign	Homo
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Homo
Apc	CAATAAAGC	CAATAAAGCTAATAAAGC	18: 34,415,052 (GRCm39)		probably benign	Homo
Apol6	GTTT	GTTTCTTT	15: 76,935,642 (GRCm39)		probably null	Homo
Arpc1b	GGTGGC	GGTGGCGTGGC	5: 145,063,597 (GRCm39)		probably null	Het
AY358078	C	T	14: 52,043,155 (GRCm39)	S281L	unknown	Homo
Blm	ACCTGC	ACCTGCCTGC	7: 80,113,519 (GRCm39)		probably null	Het
Blm	T	TACCA	7: 80,113,522 (GRCm39)		probably null	Het
Bltp1	TTATTAT	TTATTATTATTATTACTATTAT	3: 37,104,903 (GRCm39)		probably benign	Het
Blzf1	TTGT	TT	1: 164,131,486 (GRCm39)		probably null	Homo
Btnl10	A	AAGG	11: 58,814,757 (GRCm39)		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 85,365,349 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 85,365,355 (GRCm39)		probably benign	Homo
Catsper2	TTC	TTCTTTTACTTTGTC	2: 121,228,021 (GRCm39)		probably benign	Homo
Ccdc170	ACC	ACCTCC	10: 4,511,023 (GRCm39)		probably benign	Het
Ccdc170	AC	ACCCC	10: 4,511,029 (GRCm39)		probably benign	Het
Ccdc73	TAAG	T	2: 104,822,185 (GRCm39)		probably benign	Homo
Ccnk	TTCCCAC	T	12: 108,168,766 (GRCm39)		probably benign	Het
Cdan1	A	C	2: 120,555,452 (GRCm39)	V763G	probably damaging	Het
Cdk6	A	G	5: 3,394,211 (GRCm39)		probably benign	Het
Cdx1	TGCTGC	TGCTGCCGCTGC	18: 61,152,946 (GRCm39)		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,152,950 (GRCm39)		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,218,846 (GRCm39)		probably benign	Homo
Chd4	GC	GCTCCCCC	6: 125,099,094 (GRCm39)		probably benign	Homo
Cluh	GAGCCT	GAGCCTAAGCCT	11: 74,560,350 (GRCm39)		probably benign	Het
Cluh	CC	CCTGAGGC	11: 74,560,359 (GRCm39)		probably benign	Het
Cluh	CCCCGAGCC	CCCCGAGCCCGAGCC	11: 74,560,340 (GRCm39)		probably benign	Het
Cluh	AGCCTG	AGCCTGCGCCTG	11: 74,560,345 (GRCm39)		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,080,408 (GRCm39)		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,080,416 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,395 (GRCm39)		probably benign	Het
Cntnap1	GCCCCA	GCCCCAACCCCA	11: 101,080,402 (GRCm39)		probably benign	Het
Cracdl	T	A	1: 37,664,116 (GRCm39)	E594V	probably benign	Homo
Cracdl	C	A	1: 37,664,117 (GRCm39)	E594*	probably null	Homo
Cul9	CTC	CTCTTC	17: 46,811,784 (GRCm39)		probably benign	Het
Cul9	CTCTTC	CTCTTCTTC	17: 46,811,772 (GRCm39)		probably benign	Het
Cyth2	C	A	7: 45,462,466 (GRCm39)	S102I	possibly damaging	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,739 (GRCm39)		probably benign	Het
Dbr1	GGAGG	GGAGGACGAGG	9: 99,465,752 (GRCm39)		probably benign	Het
Dennd2b	CACCACACTGGGGCAGCCCACACTGGGGCAG	CCCCACACTGGGGCAG	7: 109,156,128 (GRCm39)		probably benign	Het
Dhx8	GACCGA	GACCGATACCGA	11: 101,629,005 (GRCm39)		probably benign	Homo
Dhx8	GAGACC	GAGACCCAGACC	11: 101,629,015 (GRCm39)		probably benign	Homo
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,629,008 (GRCm39)		probably benign	Homo
Dnaaf9	CC	CCTGC	2: 130,612,672 (GRCm39)		probably benign	Het
Dnah8	ACTGCCCCT	ACT	17: 30,854,439 (GRCm39)		probably benign	Het
Dnah8	CCTCCCG	C	17: 30,854,451 (GRCm39)		probably benign	Homo
Dnajb5	AGGTG	A	4: 42,957,126 (GRCm39)		probably null	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Homo
E4f1	CCG	CCGACG	17: 24,674,166 (GRCm39)		probably benign	Homo
Eif3a	TTA	TTATTATA	19: 60,763,727 (GRCm39)		probably benign	Het
Fam81b	TTC	TTCGTC	13: 76,419,438 (GRCm39)		probably benign	Het
Fbxo22	G	A	9: 55,116,666 (GRCm39)	R56H	probably damaging	Het
Fcgr1	CTTCT	C	3: 96,191,820 (GRCm39)		probably null	Het
Fcgr1	T	C	3: 96,194,410 (GRCm39)	D159G	probably benign	Homo
Fmn1	CC	CCTCCTTC	2: 113,356,129 (GRCm39)		probably benign	Het
Fmn1	CCTCCT	CCTCCTACTCCT	2: 113,356,123 (GRCm39)		probably benign	Het
Fmn1	CC	CCCCCTGC	2: 113,356,126 (GRCm39)		probably benign	Het
G530012D18Rik	GA	GACAGAGATA	1: 85,504,899 (GRCm39)		probably null	Het
Gli3	G	A	13: 15,818,942 (GRCm39)	R248H	probably damaging	Het
Gm16503	G	A	4: 147,625,710 (GRCm39)	G68E	unknown	Het
Gm19345	GGATGGCAGGTG	GG	7: 19,591,527 (GRCm39)		probably null	Het
Gm4340	AGC	AGCTGC	10: 104,031,958 (GRCm39)		probably benign	Het
Gm4340	AG	AGCGG	10: 104,031,961 (GRCm39)		probably benign	Het
Gm4340	GCA	GCAACA	10: 104,031,938 (GRCm39)		probably benign	Het
Gm6309	C	T	5: 146,104,993 (GRCm39)	V307I	probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 79,149,600 (GRCm39)		probably benign	Het
Gpatch11	AGGAA	AGGAAGCGGAA	17: 79,149,609 (GRCm39)		probably benign	Het
Hoxa10	T	A	6: 52,211,166 (GRCm39)	Q250L	possibly damaging	Homo
Hrh1	T	C	6: 114,458,084 (GRCm39)	I455T	possibly damaging	Het
Hspa1b	GCGCC	GC	17: 35,176,105 (GRCm39)		probably benign	Homo
Iba57	GAAA	GAAAAA	11: 59,052,331 (GRCm39)		probably null	Homo
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 67,875,929 (GRCm39)		probably benign	Het
Il17rd	CGG	CGGAGG	14: 26,804,637 (GRCm39)		probably benign	Het
Il2	TGG	TGGGGCTTGAAGCGG	3: 37,179,977 (GRCm39)		probably benign	Het
Il2	AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTG	3: 37,179,913 (GRCm39)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Homo
Klra2	G	GAAATCCACAT	6: 131,198,815 (GRCm39)		probably null	Het
Kmt2b	CCTCCT	CCTCCTTCTCCT	7: 30,285,792 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,285,795 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,803 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,791 (GRCm39)		probably benign	Het
Krt10	TCCTCC	TCCTCCGCCTCC	11: 99,280,099 (GRCm39)		probably benign	Het
Krt10	TCCGCC	TCCGCCGCC	11: 99,277,023 (GRCm39)		probably benign	Homo
Krt10	TCC	TCCTCCACC	11: 99,280,105 (GRCm39)		probably benign	Homo
Krtap28-10	TCCCACA	TCCCACACCCACA	1: 83,019,844 (GRCm39)		probably benign	Homo
Krtap4-2	A	ACAC	11: 99,525,839 (GRCm39)		probably benign	Het
Krtap9-3	AC	ACAGGTGTCGC	11: 99,488,830 (GRCm39)		probably benign	Het
Las1l	AGG	AGGGGG	X: 94,984,427 (GRCm39)		probably benign	Het
Las1l	GAG	GAGCAG	X: 94,984,435 (GRCm39)		probably benign	Het
Las1l	AGG	AGGCGG	X: 94,984,433 (GRCm39)		probably benign	Het
Lrit3	TGC	TGCAGC	3: 129,582,455 (GRCm39)		probably benign	Het
Lrit3	AC	ACATTC	3: 129,597,562 (GRCm39)		probably null	Homo
Lrit3	GCT	GCTTCT	3: 129,582,459 (GRCm39)		probably benign	Het
Luzp1	A	AGGTGGCCTCTTCAGT	4: 136,270,507 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,441 (GRCm39)		probably benign	Het
Mamld1	GCA	GCAACA	X: 70,162,445 (GRCm39)		probably benign	Het
Mapk8ip3	G	A	17: 25,121,093 (GRCm39)		probably null	Homo
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,406,644 (GRCm39)		probably benign	Het
Nat8f2	T	A	6: 85,844,668 (GRCm39)	L231F	possibly damaging	Homo
Nfxl1	CC	CCGGGGAC	5: 72,716,464 (GRCm39)		probably benign	Het
Noc2l	CTG	CTGTTG	4: 156,324,552 (GRCm39)		probably benign	Het
Noc2l	GGTAG	GG	4: 156,325,958 (GRCm39)		probably benign	Homo
Noc2l	GCT	GCTTCT	4: 156,324,551 (GRCm39)		probably benign	Het
Nxpe5	C	T	5: 138,228,196 (GRCm39)		probably benign	Het
Or10j2	GGGCTGCTTGTGGCAAT	G	1: 173,098,197 (GRCm39)		probably null	Het
Or51a43	G	C	7: 103,720,499 (GRCm39)		probably benign	Homo
Or51f2	CT	CTAATTGCCTT	7: 102,526,440 (GRCm39)		probably benign	Homo
Or8b41	A	G	9: 38,054,484 (GRCm39)	I13V	probably benign	Homo
Or8u3-ps	CAG	CAGAG	2: 85,953,104 (GRCm39)		probably null	Homo
Osmr	C	CTCA	15: 6,867,187 (GRCm39)		probably null	Homo
Patl2	GC	GCTAC	2: 121,956,625 (GRCm39)		probably null	Het
Patl2	C	CTGA	2: 121,956,626 (GRCm39)		probably benign	Het
Patl2	CTG	CTGTTG	2: 121,956,617 (GRCm39)		probably benign	Het
Pdik1l	GTTTTTGTTTT	GTTTTTGTTTTTTTTTTGTTTT	4: 134,006,678 (GRCm39)		probably null	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,006,817 (GRCm39)		probably benign	Het
Phc1	GCTG	GCTGCTTCTG	6: 122,300,557 (GRCm39)		probably benign	Het
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Homo
Pitrm1	TTTTA	T	13: 6,610,632 (GRCm39)		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,703,881 (GRCm39)		probably benign	Homo
Pla2g4e	AGGG	A	2: 120,075,205 (GRCm39)		probably benign	Homo
Plekhs1	AC	ACCTCCCCCGAGCC	19: 56,468,295 (GRCm39)		probably benign	Het
Pnma8a	CCTCATGATGCACCTGCTTCAACATC	CCTCATGATGCACCTGCTTCAACATCTCATGATGCACCTGCTTCAACATC	7: 16,695,350 (GRCm39)		probably benign	Homo
Pnma8b	TGGA	T	7: 16,679,931 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Homo
Prr13	CTC	CTCATC	15: 102,370,608 (GRCm39)		probably benign	Het
Prss41	CACA	C	17: 24,063,071 (GRCm39)		probably benign	Het
Prtg	GTAAC	G	9: 72,764,363 (GRCm39)		probably benign	Het
Ptk2b	C	T	14: 66,411,298 (GRCm39)	R411Q	possibly damaging	Homo
Ptms	TCT	TCTGCT	6: 124,891,420 (GRCm39)		probably benign	Homo
Ptms	C	CTTG	6: 124,891,424 (GRCm39)		probably benign	Homo
Ptms	TTC	TTCGTC	6: 124,891,422 (GRCm39)		probably benign	Homo
Ptpn23	G	T	9: 110,216,701 (GRCm39)	P1052T	probably benign	Homo
Rab3il1	C	A	19: 10,011,115 (GRCm39)	A264E	probably damaging	Homo
Rbm6	GCTGT	G	9: 107,659,954 (GRCm39)		probably null	Homo
Rtbdn	TAG	TAGGGGCAG	8: 85,682,790 (GRCm39)		probably benign	Het
Rtbdn	GGC	GGCAGCTGC	8: 85,682,806 (GRCm39)		probably benign	Het
Rtbdn	CGGC	CGGCAGGGGC	8: 85,682,805 (GRCm39)		probably benign	Het
Rtbdn	AGCG	AGCGTCCGCG	8: 85,682,797 (GRCm39)		probably benign	Het
Sbp	CAAAG	CAAAGCTGCTGACAAAAAAG	17: 24,164,356 (GRCm39)		probably benign	Het
Sbp	G	GCTGACAACAAAGATC	17: 24,164,363 (GRCm39)		probably benign	Het
Sfswap	GCCCACTC	GCCCACTCATCCCACTC	5: 129,646,820 (GRCm39)		probably benign	Het
Six3	GGC	GGCAGC	17: 85,928,785 (GRCm39)		probably benign	Het
Six3	GCG	GCGCCG	17: 85,928,786 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,790 (GRCm39)		probably benign	Het
Six3	GGC	GGCAGC	17: 85,928,791 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,793 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,796 (GRCm39)		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACTCC	2: 124,996,134 (GRCm39)		probably benign	Homo
Smarca2	CAGCAGCAGCAGCAGCAGCA	CAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,608,399 (GRCm39)		probably benign	Homo
Spaca1	TCGCTC	TCGCTCGCGCTC	4: 34,049,836 (GRCm39)		probably benign	Het
Spag1	TTC	TTCGTC	15: 36,197,879 (GRCm39)		probably benign	Het
Spag17	AGG	AGGCGG	3: 99,963,573 (GRCm39)		probably benign	Het
Spata31h1	TTCA	T	10: 82,121,303 (GRCm39)		probably benign	Homo
Srebf2	G	T	15: 82,069,536 (GRCm39)	A693S	probably damaging	Homo
Srpk2	T	C	5: 23,750,194 (GRCm39)		probably null	Homo
Sry	AACTGCT	A	Y: 2,663,195 (GRCm39)		probably benign	Het
Sry	GTG	GTGTTG	Y: 2,662,837 (GRCm39)		probably benign	Homo
Sry	TGG	TGGGGG	Y: 2,662,838 (GRCm39)		probably benign	Homo
Stard9	C	CTAAGGGACTAGTAGG	2: 120,526,566 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,079 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGAAGCAG	3: 54,635,082 (GRCm39)		probably benign	Het
Supt20	GCAGCA	GCAGCAACAGCA	3: 54,635,078 (GRCm39)		probably benign	Het
Tcof1	GGGTA	G	18: 60,961,722 (GRCm39)		probably benign	Homo
Tdpoz3	A	C	3: 93,733,981 (GRCm39)	N219H	probably benign	Het
Tesk1	C	CCCCG	4: 43,447,004 (GRCm39)		probably null	Homo
Tob1	GCA	GCAACA	11: 94,105,290 (GRCm39)		probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)		probably benign	Het
Tob1	A	AGCC	11: 94,105,304 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	AG	AGAGG	14: 53,887,213 (GRCm39)		probably benign	Homo
Trav15-2-dv6-2	G	GAAA	14: 53,887,214 (GRCm39)		probably benign	Homo
Trim63	GAGT	G	4: 134,055,036 (GRCm39)		probably benign	Het
Tsbp1	CAG	CAGAAG	17: 34,679,025 (GRCm39)		probably benign	Het
Tsbp1	GCA	GCATCA	17: 34,679,042 (GRCm39)		probably benign	Het
Tsen2	G	GAGA	6: 115,537,038 (GRCm39)		probably benign	Het
Ttf2	TC	TCCCC	3: 100,870,476 (GRCm39)		probably benign	Homo
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,223,550 (GRCm39)		probably benign	Homo
Ubqlnl	TGAG	T	7: 103,799,042 (GRCm39)		probably benign	Homo
Ubtf	CCT	CCTACT	11: 102,197,774 (GRCm39)		probably null	Het
Ubtf	TCC	TCCACC	11: 102,197,776 (GRCm39)		probably benign	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Homo
Wasf3	G	T	5: 146,407,060 (GRCm39)	R460L	probably damaging	Het
Zc3h13	TGCGAGATG	TGCGAGATGAGCGAGATG	14: 75,561,039 (GRCm39)		probably benign	Homo
Zc3h13	ATGTGCGAG	ATGTGCGAGGTGTGCGAG	14: 75,561,036 (GRCm39)		probably benign	Homo
Zfhx3	GCAACA	GCAACAACAACAACA	8: 109,682,720 (GRCm39)		probably benign	Het
Zfhx3	GCA	GCAACAGCACCA	8: 109,682,735 (GRCm39)		probably benign	Het
Zfhx3	AGCA	AGCAACAGACGCA	8: 109,682,734 (GRCm39)		probably benign	Het
Zfp111	TCA	TCAACA	7: 23,899,230 (GRCm39)		probably benign	Homo
Zfp112	CATGA	CATGATGA	7: 23,824,832 (GRCm39)		probably benign	Homo
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Homo
Zfp282	CGG	CGGGGG	6: 47,881,724 (GRCm39)		probably benign	Het
Zfp282	CGG	CGGGGG	6: 47,881,733 (GRCm39)		probably benign	Het
Zfp335	TC	TCCCC	2: 164,749,404 (GRCm39)		probably benign	Het
Zfp335	TCC	TCCGCC	2: 164,749,395 (GRCm39)		probably benign	Het
Zfp335	CTC	CTCGTC	2: 164,749,394 (GRCm39)		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758 (GRCm39)		probably benign	Het
Zfp462	ACC	ACCTCAGCCACAGTCGCC	4: 55,009,760 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,750 (GRCm39)		probably benign	Het
Zfp598	AC	ACCACCGC	17: 24,899,765 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCGCCACC	17: 24,899,756 (GRCm39)		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,487,264 (GRCm39)		probably benign	Het
Zfp831	TC	TCCGC	2: 174,487,276 (GRCm39)		probably benign	Het
Zfp831	CTC	CTCATC	2: 174,487,269 (GRCm39)		probably benign	Het
Zfp93	CAGGCATAG	CAG	7: 23,974,814 (GRCm39)		probably benign	Homo
Zscan10	TGACG	TG	17: 23,828,419 (GRCm39)		probably benign	Homo

Other mutations in Setd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02508:Setd1a	APN	7	127,396,870 (GRCm39)	unclassified	probably benign
IGL02657:Setd1a	APN	7	127,394,997 (GRCm39)	unclassified	probably benign
IGL02792:Setd1a	APN	7	127,390,522 (GRCm39)	missense	unknown
IGL02876:Setd1a	APN	7	127,377,673 (GRCm39)	splice site	probably benign
IGL02967:Setd1a	APN	7	127,384,349 (GRCm39)	unclassified	probably benign
IGL03090:Setd1a	APN	7	127,385,672 (GRCm39)	missense	possibly damaging	0.83
IGL03238:Setd1a	APN	7	127,384,718 (GRCm39)	missense	possibly damaging	0.86
FR4449:Setd1a	UTSW	7	127,384,498 (GRCm39)	unclassified	probably benign
FR4548:Setd1a	UTSW	7	127,384,485 (GRCm39)	unclassified	probably benign
FR4548:Setd1a	UTSW	7	127,384,479 (GRCm39)	unclassified	probably benign
FR4589:Setd1a	UTSW	7	127,384,469 (GRCm39)	unclassified	probably benign
FR4976:Setd1a	UTSW	7	127,384,488 (GRCm39)	unclassified	probably benign
FR4976:Setd1a	UTSW	7	127,384,479 (GRCm39)	unclassified	probably benign
R0367:Setd1a	UTSW	7	127,387,358 (GRCm39)	splice site	probably benign
R0411:Setd1a	UTSW	7	127,395,223 (GRCm39)	unclassified	probably benign
R0416:Setd1a	UTSW	7	127,384,469 (GRCm39)	unclassified	probably benign
R0470:Setd1a	UTSW	7	127,384,229 (GRCm39)	unclassified	probably benign
R0645:Setd1a	UTSW	7	127,386,382 (GRCm39)	missense	probably damaging	0.96
R0667:Setd1a	UTSW	7	127,385,765 (GRCm39)	missense	probably damaging	0.99
R1251:Setd1a	UTSW	7	127,396,596 (GRCm39)	unclassified	probably benign
R1465:Setd1a	UTSW	7	127,387,512 (GRCm39)	unclassified	probably benign
R1465:Setd1a	UTSW	7	127,387,512 (GRCm39)	unclassified	probably benign
R1660:Setd1a	UTSW	7	127,395,841 (GRCm39)	unclassified	probably benign
R1730:Setd1a	UTSW	7	127,384,296 (GRCm39)	nonsense	probably null
R1760:Setd1a	UTSW	7	127,385,062 (GRCm39)	missense	possibly damaging	0.68
R1783:Setd1a	UTSW	7	127,384,296 (GRCm39)	nonsense	probably null
R2149:Setd1a	UTSW	7	127,385,690 (GRCm39)	missense	possibly damaging	0.75
R2159:Setd1a	UTSW	7	127,384,661 (GRCm39)	missense	possibly damaging	0.91
R2303:Setd1a	UTSW	7	127,398,327 (GRCm39)	unclassified	probably benign
R2679:Setd1a	UTSW	7	127,394,896 (GRCm39)	unclassified	probably benign
R3428:Setd1a	UTSW	7	127,384,493 (GRCm39)	unclassified	probably benign
R4108:Setd1a	UTSW	7	127,398,374 (GRCm39)	unclassified	probably benign
R4227:Setd1a	UTSW	7	127,395,819 (GRCm39)	unclassified	probably benign
R4438:Setd1a	UTSW	7	127,384,903 (GRCm39)	missense	possibly damaging	0.83
R4730:Setd1a	UTSW	7	127,396,502 (GRCm39)	unclassified	probably benign
R4869:Setd1a	UTSW	7	127,396,776 (GRCm39)	unclassified	probably benign
R4892:Setd1a	UTSW	7	127,377,696 (GRCm39)	missense	probably damaging	0.99
R5152:Setd1a	UTSW	7	127,383,197 (GRCm39)	missense	probably benign
R5502:Setd1a	UTSW	7	127,396,420 (GRCm39)	critical splice donor site	probably null
R5527:Setd1a	UTSW	7	127,384,801 (GRCm39)	missense	probably damaging	0.99
R6189:Setd1a	UTSW	7	127,377,455 (GRCm39)	splice site	probably null
R6250:Setd1a	UTSW	7	127,390,471 (GRCm39)	missense	unknown
R7131:Setd1a	UTSW	7	127,395,590 (GRCm39)	small deletion	probably benign
R7988:Setd1a	UTSW	7	127,385,366 (GRCm39)	missense	probably benign	0.02
R8029:Setd1a	UTSW	7	127,385,386 (GRCm39)	missense	probably benign	0.08
R8079:Setd1a	UTSW	7	127,384,225 (GRCm39)	missense	unknown
R8171:Setd1a	UTSW	7	127,390,399 (GRCm39)	missense	unknown
R8175:Setd1a	UTSW	7	127,395,415 (GRCm39)	missense	unknown
R8286:Setd1a	UTSW	7	127,385,356 (GRCm39)	missense	possibly damaging	0.96
R8327:Setd1a	UTSW	7	127,390,669 (GRCm39)	missense	unknown
R8460:Setd1a	UTSW	7	127,383,292 (GRCm39)	missense	unknown
R8547:Setd1a	UTSW	7	127,395,676 (GRCm39)	unclassified	probably benign
R8699:Setd1a	UTSW	7	127,385,774 (GRCm39)	missense	possibly damaging	0.53
R8822:Setd1a	UTSW	7	127,385,332 (GRCm39)	missense	possibly damaging	0.86
R8968:Setd1a	UTSW	7	127,385,279 (GRCm39)	missense	possibly damaging	0.93
R9063:Setd1a	UTSW	7	127,385,558 (GRCm39)	missense	possibly damaging	0.91
R9178:Setd1a	UTSW	7	127,385,590 (GRCm39)	missense	possibly damaging	0.93
R9672:Setd1a	UTSW	7	127,385,237 (GRCm39)	missense	possibly damaging	0.96
R9700:Setd1a	UTSW	7	127,385,752 (GRCm39)	missense	possibly damaging	0.53
RF001:Setd1a	UTSW	7	127,384,486 (GRCm39)	unclassified	probably benign
RF008:Setd1a	UTSW	7	127,384,486 (GRCm39)	unclassified	probably benign
RF011:Setd1a	UTSW	7	127,384,515 (GRCm39)	unclassified	probably benign
RF014:Setd1a	UTSW	7	127,384,518 (GRCm39)	unclassified	probably benign
RF030:Setd1a	UTSW	7	127,384,483 (GRCm39)	unclassified	probably benign
RF030:Setd1a	UTSW	7	127,384,473 (GRCm39)	unclassified	probably benign
RF031:Setd1a	UTSW	7	127,384,483 (GRCm39)	unclassified	probably benign
RF036:Setd1a	UTSW	7	127,384,472 (GRCm39)	unclassified	probably benign
RF041:Setd1a	UTSW	7	127,384,504 (GRCm39)	unclassified	probably benign
RF052:Setd1a	UTSW	7	127,384,529 (GRCm39)	unclassified	probably benign
RF055:Setd1a	UTSW	7	127,384,471 (GRCm39)	unclassified	probably benign
RF056:Setd1a	UTSW	7	127,384,500 (GRCm39)	unclassified	probably benign
RF056:Setd1a	UTSW	7	127,384,475 (GRCm39)	unclassified	probably benign
RF058:Setd1a	UTSW	7	127,384,490 (GRCm39)	unclassified	probably benign
Z1176:Setd1a	UTSW	7	127,398,266 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAAAGCTGGAATCGTTACCAGC -3'
(R):5'- GGGAATCCAAACTGCTGTGC -3'

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

Posted On

2018-04-05