Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Setd1a'

552655

Institutional Source

Beutler Lab

Gene Symbol

Setd1a

Ensembl Gene

ENSMUSG00000042308

Gene Name

SET domain containing 1A

Synonyms

KMT2F

MMRRC Submission

045216-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7131 (G1)

Quality Score

109.467

Status

Not validated

Chromosome

Chromosomal Location

127776670-127800122 bp(+) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

AAGCAGCAGCAGCAGCAGCAG to AAGCAGCAGCAGCAGCAG at 127796418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046863] [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000106271] [ENSMUST00000106272] [ENSMUST00000125188] [ENSMUST00000154987] [ENSMUST00000155005] [ENSMUST00000206674] [ENSMUST00000138432] [ENSMUST00000139068]

AlphaFold

E9PYH6

Predicted Effect

probably benign
Transcript: ENSMUST00000046863

SMART Domains

Protein: ENSMUSP00000036245
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
Pfam:KR	11	147	3e-10	PFAM
Pfam:RmlD_sub_bind	11	198	8.1e-10	PFAM
Pfam:Polysacc_synt_2	12	140	4.6e-13	PFAM
Pfam:NmrA	12	142	1.9e-9	PFAM
Pfam:Epimerase	12	215	3.2e-25	PFAM
Pfam:GDP_Man_Dehyd	13	185	8.1e-17	PFAM
Pfam:3Beta_HSD	13	290	5.4e-99	PFAM
Pfam:NAD_binding_4	14	240	1.4e-15	PFAM
transmembrane domain	312	334	N/A	INTRINSIC

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: ENSMUST00000106271

SMART Domains

Protein: ENSMUSP00000101878
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
Pfam:adh_short	10	143	1.3e-13	PFAM
Pfam:RmlD_sub_bind	10	186	3.7e-10	PFAM
Pfam:KR	11	140	5.7e-10	PFAM
Pfam:Polysacc_synt_2	12	140	2.8e-13	PFAM
Pfam:NmrA	12	141	2.7e-9	PFAM
Pfam:Epimerase	12	220	2.9e-26	PFAM
Pfam:NAD_binding_10	13	186	2.3e-11	PFAM
Pfam:3Beta_HSD	13	216	1e-70	PFAM
Pfam:NAD_binding_4	14	183	1.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106272

SMART Domains

Protein: ENSMUSP00000101879
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
Pfam:adh_short	10	143	3.7e-13	PFAM
Pfam:RmlD_sub_bind	10	180	2.8e-9	PFAM
Pfam:KR	11	139	1.6e-9	PFAM
Pfam:Polysacc_synt_2	12	140	7.7e-13	PFAM
Pfam:NmrA	12	141	7.3e-9	PFAM
Pfam:Epimerase	12	215	7.1e-26	PFAM
Pfam:NAD_binding_10	13	179	1.1e-10	PFAM
Pfam:3Beta_HSD	13	188	6.1e-70	PFAM
Pfam:NAD_binding_4	14	187	1.5e-17	PFAM
Pfam:3Beta_HSD	177	261	4e-23	PFAM
transmembrane domain	281	303	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124631

Predicted Effect

probably benign
Transcript: ENSMUST00000125188

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136597

Predicted Effect

probably benign
Transcript: ENSMUST00000136823

Predicted Effect

probably benign
Transcript: ENSMUST00000154987

Predicted Effect

probably benign
Transcript: ENSMUST00000155005

Predicted Effect

probably benign
Transcript: ENSMUST00000206674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206516

Predicted Effect

probably benign
Transcript: ENSMUST00000138432

SMART Domains

Protein: ENSMUSP00000114536
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
Pfam:3Beta_HSD	18	78	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139068

SMART Domains

Protein: ENSMUSP00000121246
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
Pfam:3Beta_HSD	13	55	2.7e-13	PFAM
Pfam:3Beta_HSD	53	100	3.2e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,548,956	V435A	possibly damaging	Het
Abca13	A	G	11: 9,291,893	N1252S	probably benign	Het
Abcc3	A	T	11: 94,365,031	F543I	probably damaging	Het
Adam15	T	A	3: 89,346,980	Q170L	possibly damaging	Het
AF366264	A	T	8: 13,836,982	W370R	probably damaging	Het
Aldoc	A	G	11: 78,324,456	I19V	possibly damaging	Het
Atrip	T	C	9: 109,060,420	I711M	probably benign	Het
Brwd1	A	C	16: 96,066,498	L149R	probably damaging	Het
Capn9	A	T	8: 124,576,278	D45V	probably damaging	Het
Card9	G	A	2: 26,358,835	R101C	probably damaging	Het
Casc1	A	T	6: 145,177,406	L578Q	probably null	Het
Ccdc36	A	T	9: 108,417,420	D98E	probably benign	Het
Ccdc87	A	G	19: 4,841,757	E759G	probably damaging	Het
Cep250	T	C	2: 155,965,077	M193T	probably damaging	Het
Cfap54	T	C	10: 92,821,104	K3029E	probably benign	Het
Chrna9	G	A	5: 65,977,141	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,940,775	S367L	probably benign	Het
Col5a1	A	G	2: 27,929,486	D200G	unknown	Het
Crhr2	T	C	6: 55,092,127	N388D		Het
Cyp2b23	A	G	7: 26,681,413	L129P	probably benign	Het
Cyr61	T	C	3: 145,648,781	D125G	probably damaging	Het
Dctd	A	G	8: 48,112,040	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,904,070	V738L	probably benign	Het
Dnah17	C	T	11: 118,079,658	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,681,772	A2819S	probably benign	Het
Dot1l	A	G	10: 80,792,341	H1071R	unknown	Het
Doxl2	T	A	6: 48,976,372	Y410*	probably null	Het
Dync2h1	T	A	9: 7,075,786	D3027V	probably damaging	Het
Efl1	A	G	7: 82,658,064	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,784,100	R29W	probably null	Het
Evc2	A	G	5: 37,410,258	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,644,383		probably benign	Het
Fibp	T	A	19: 5,461,491	I129N	probably damaging	Het
Folh1	G	T	7: 86,726,112	H555Q	probably damaging	Het
Gcnt4	A	T	13: 96,946,519	T108S	probably damaging	Het
Gm436	A	G	4: 144,670,067	V365A	probably damaging	Het
H1fnt	T	A	15: 98,256,369	K300*	probably null	Het
Hecw2	A	T	1: 53,865,121	V1156E	probably damaging	Het
Herc3	C	G	6: 58,887,424	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,939,780	C20*	probably null	Het
Ivd	C	A	2: 118,869,774	T94K	probably damaging	Het
Kank2	C	T	9: 21,794,679	A348T	probably benign	Het
Kcnma1	T	C	14: 23,367,494	Y889C	probably damaging	Het
Kif13b	T	C	14: 64,773,068	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,849,616		probably benign	Het
Kmt5b	T	A	19: 3,815,412	D825E	probably benign	Het
Krt39	C	T	11: 99,520,871	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,785,457	T68I	unknown	Het
Lmbr1l	A	T	15: 98,906,323	V365E	probably benign	Het
Lonp1	C	T	17: 56,617,814	R531Q	probably damaging	Het
Mecom	T	A	3: 29,980,945	H194L	probably damaging	Het
Mlx	C	T	11: 101,089,242	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,375,015	S77P	probably damaging	Het
Mst1	A	G	9: 108,084,931	E716G	probably null	Het
Mttp	C	T	3: 138,116,132	V210I	probably benign	Het
Mug2	T	C	6: 122,075,247	V988A	probably damaging	Het
Ndufb6	A	G	4: 40,279,336	M1T	probably null	Het
Neurog1	A	T	13: 56,251,750	N61K	probably benign	Het
Nlrp14	A	G	7: 107,184,814	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,449,833	N288K	probably benign	Het
Notch3	T	A	17: 32,144,217	H1264L	probably benign	Het
Olfr384	A	T	11: 73,602,736	D52V	possibly damaging	Het
Olfr394	A	T	11: 73,887,954	C139*	probably null	Het
Olfr402	A	G	11: 74,155,780	M209V	probably benign	Het
Patl2	A	T	2: 122,121,782		probably null	Het
Pfkfb4	A	G	9: 109,007,302	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,304,554	E471G	probably null	Het
Postn	T	C	3: 54,362,635	V45A	probably damaging	Het
Ppan	T	A	9: 20,891,154	V257E	possibly damaging	Het
Ptcra	C	G	17: 46,763,596	A7P	probably damaging	Het
Ptprd	C	T	4: 76,066,340	R523H	probably damaging	Het
Pycrl	A	T	15: 75,918,695	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,095,079	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,768,628	K668*	probably null	Het
Ryr2	A	T	13: 11,640,327	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,668,811		probably null	Het
Sec23ip	T	A	7: 128,779,640	S974T	probably damaging	Het
Setbp1	A	G	18: 79,086,960	F19S	probably benign	Het
Sh3pxd2b	A	G	11: 32,422,072	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,449,803	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,002,202	Y418C	probably damaging	Het
Snx19	T	G	9: 30,427,893	I109S	probably damaging	Het
Spg20	T	C	3: 55,121,799		probably null	Het
Sptbn2	A	T	19: 4,749,460	Q2097L	probably null	Het
Syne1	T	C	10: 5,228,221	K4751R	probably damaging	Het
Tigit	C	A	16: 43,662,252	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,297,972	I264K	probably damaging	Het
Tom1	T	A	8: 75,057,249	I287N	possibly damaging	Het
Top2a	G	A	11: 99,004,182	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,571,066	V290E	probably damaging	Het
Try4	T	C	6: 41,304,403	I93T	probably benign	Het
Usp24	T	A	4: 106,382,303	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,193,935	R109S	probably benign	Het
Vav3	T	A	3: 109,664,346	F755I	probably damaging	Het
Vezt	A	T	10: 93,970,547	Y667*	probably null	Het
Vmn1r231	T	A	17: 20,889,878	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,395,528	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380	T449A	probably benign	Het
Zfp956	C	A	6: 47,955,847	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,525,273	W152R	probably damaging	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
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
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'- CTATGCCCTAGCCATCAAGC -3'
(R):5'- TGTCTTCCAAGTCAAGGCC -3'

Sequencing Primer
(F):5'- TAGCCATCAAGCCCCCG -3'
(R):5'- TCCAAGTCAAGGCCTGAGTTC -3'

Posted On

2019-05-15