Mutagenetix > Incidental Mutation

Incidental Mutation 'R8171:Setd1a'

634112

Institutional Source

Beutler Lab

Gene Symbol

Setd1a

Ensembl Gene

ENSMUSG00000042308

Gene Name

SET domain containing 1A

Synonyms

KMT2F

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8171 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127776670-127800122 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127791227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1025 (D1025G)

Ref Sequence

ENSEMBL: ENSMUSP00000047672 (fasta)

Gene Model

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

AlphaFold

E9PYH6

Predicted Effect

unknown
Transcript: ENSMUST00000047075
AA Change: D1025G

SMART Domains

Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308
AA Change: D1025G

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: D1025G

SMART Domains

Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308
AA Change: D1025G

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: D482G

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,662,025	A661E	probably benign	Het
4932438A13Rik	T	C	3: 36,975,713	V2423A	probably benign	Het
4933425L06Rik	T	A	13: 105,109,783	V284E	probably benign	Het
Abhd14a	T	A	9: 106,440,761	T142S	probably benign	Het
Actn1	A	G	12: 80,196,393		probably null	Het
Adss	T	C	1: 177,796,351	N15S	probably benign	Het
Alpk2	A	G	18: 65,305,983	S780P	probably benign	Het
Asap1	G	T	15: 64,110,966	L830M	probably damaging	Het
Atic	T	C	1: 71,569,873	V319A	possibly damaging	Het
Atp8a2	A	T	14: 60,046,044	I87N	probably damaging	Het
Bace2	G	T	16: 97,424,586	V407L	possibly damaging	Het
Bmp3	A	T	5: 98,872,669	Y317F	probably damaging	Het
Ccdc159	A	G	9: 21,933,711	E291G	possibly damaging	Het
Cct8l1	T	A	5: 25,516,554	L89Q	probably damaging	Het
Cep83	T	A	10: 94,768,935	N503K	possibly damaging	Het
Ces4a	A	G	8: 105,147,207	Y436C	probably damaging	Het
Cftr	T	A	6: 18,258,288	D579E	probably damaging	Het
Chd9	T	A	8: 91,025,387	V1751D	possibly damaging	Het
Clasp2	A	T	9: 113,903,906	T937S	possibly damaging	Het
Clock	T	A	5: 76,266,414	D17V	possibly damaging	Het
Cpm	T	C	10: 117,683,315	L376P	probably damaging	Het
Crocc2	T	C	1: 93,189,001		probably null	Het
Csnk1g2	A	G	10: 80,639,802	D401G	probably damaging	Het
Cyb5r4	C	T	9: 87,042,810	L206F	possibly damaging	Het
Cyp1a1	T	A	9: 57,700,196	W36R	probably benign	Het
Cyp3a59	A	T	5: 146,085,774	H30L	probably damaging	Het
Dab2	G	A	15: 6,423,926	V182I	probably benign	Het
Dnah1	G	T	14: 31,297,110	F1342L	probably damaging	Het
Draxin	A	T	4: 148,115,666	L109Q	possibly damaging	Het
Elfn1	G	A	5: 139,971,357	V39M	probably damaging	Het
Erlin1	A	G	19: 44,069,329	I19T	probably benign	Het
F830016B08Rik	T	A	18: 60,300,078	S78T	possibly damaging	Het
Fer1l4	A	G	2: 156,048,231	V258A	probably benign	Het
Fgb	T	C	3: 83,042,515	D445G	probably damaging	Het
Fgd6	T	C	10: 94,074,332		probably null	Het
Frem3	T	A	8: 80,615,240	D1387E	probably damaging	Het
Gdf3	T	C	6: 122,609,903	T22A	probably benign	Het
Glcci1	C	T	6: 8,593,167	A511V	probably benign	Het
Gldc	A	T	19: 30,133,761	N538K	probably benign	Het
Glipr1l1	C	T	10: 112,078,384	P217S	probably benign	Het
Gm35339	C	A	15: 76,363,619	F1614L		Het
Gpr161	A	G	1: 165,306,436	N89S	probably damaging	Het
Gypa	T	A	8: 80,509,463	S166T	probably benign	Het
Hcar1	A	G	5: 123,879,089	S180P	probably damaging	Het
Hcn1	T	C	13: 117,602,734	S11P	unknown	Het
Hectd4	A	G	5: 121,318,756	E728G	possibly damaging	Het
Ints14	A	T	9: 64,973,250	H213L	possibly damaging	Het
Itih1	A	T	14: 30,937,090	M323K	possibly damaging	Het
Ivl	A	G	3: 92,571,778	S327P	probably damaging	Het
Kcnt2	T	A	1: 140,509,465	N545K	probably benign	Het
Kdm4b	A	T	17: 56,389,534	R417W	probably damaging	Het
Kif13a	T	C	13: 46,778,968	E1083G	probably damaging	Het
Klhl40	A	T	9: 121,778,557	H261L	probably benign	Het
Kpnb1	A	G	11: 97,175,747		probably null	Het
Lamc3	C	A	2: 31,914,971	T621N	probably benign	Het
Lingo3	T	C	10: 80,834,761	H445R	probably benign	Het
Ly75	G	A	2: 60,314,228	T1297I	possibly damaging	Het
Lypd6	C	T	2: 50,190,747	T149M	possibly damaging	Het
Mcrs1	A	T	15: 99,248,732	D139E	probably damaging	Het
Muc5b	G	A	7: 141,861,000	S2561N	unknown	Het
Mybpc1	C	T	10: 88,523,003	G1095R	probably damaging	Het
Myh1	A	G	11: 67,202,572	Y163C	probably damaging	Het
Notch4	T	A	17: 34,582,509	C1110*	probably null	Het
Olfr1257	A	G	2: 89,881,065	I80V	probably benign	Het
Olfr527	A	T	7: 140,336,230	I123F	probably damaging	Het
Olfr705	C	T	7: 106,714,618	S21N	probably benign	Het
Olfr705	T	A	7: 106,714,619	S21C		Het
Pcsk1	T	A	13: 75,090,091	C10*	probably null	Het
Pdlim5	A	T	3: 142,312,187	S107T	probably benign	Het
Plac8l1	T	A	18: 42,180,380	D99V	probably damaging	Het
Plin2	A	T	4: 86,657,112	V400E	probably damaging	Het
Plxna1	G	A	6: 89,357,120	P176S	probably benign	Het
Pnn	A	G	12: 59,070,437	K238R	probably damaging	Het
Pou5f1	A	G	17: 35,510,036	E231G	probably benign	Het
Ppara	A	T	15: 85,797,876	M258L	probably benign	Het
Prune2	G	A	19: 17,120,518	D1129N	probably damaging	Het
Rai14	G	A	15: 10,633,163	T47M	probably damaging	Het
Rdh5	T	C	10: 128,918,100	I117V	probably benign	Het
Rpain	G	A	11: 70,973,898	C137Y	probably damaging	Het
Scn3a	A	G	2: 65,530,810	V126A	possibly damaging	Het
Senp7	G	T	16: 56,111,726	L129F	probably damaging	Het
Sirt4	A	T	5: 115,483,023	V30E	probably damaging	Het
Slit1	C	A	19: 41,727,073	R113L	probably damaging	Het
Stxbp5l	G	A	16: 37,208,054	T549I	noncoding transcript	Het
Sytl2	A	G	7: 90,409,470	M926V	probably damaging	Het
Tgfbr2	C	T	9: 116,130,006	W113*	probably null	Het
Tmem86a	A	G	7: 47,053,764	Y213C	probably damaging	Het
Tpo	T	A	12: 30,104,046	Y220F	probably damaging	Het
Ttc6	C	A	12: 57,673,310	A889E	probably damaging	Het
Tyw1	A	G	5: 130,300,014	D547G	probably benign	Het
Ubtfl1	A	G	9: 18,409,227	K17R	probably benign	Het
Usp46	T	A	5: 74,002,693	I331F	probably benign	Het
Vmn2r111	T	C	17: 22,573,092	H61R	probably benign	Het
Wdr75	T	A	1: 45,822,546	N715K	probably benign	Het
Zfp772	A	T	7: 7,204,097	C198*	probably null	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
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
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'- ACTTGTTCTTCCAGCAGAGCC -3'
(R):5'- AAGGGGCTCTGGAACTTCTCTG -3'

Sequencing Primer
(F):5'- TTCCAGCAGAGCCCAGGG -3'
(R):5'- AGCTGAGGGAATGACTGCTGAC -3'

Posted On

2020-07-13