Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03238:Setd1a'

414186

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 #

IGL03238

Quality Score

Status

Chromosome

Chromosomal Location

127376561-127399294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127384718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 523 (T523I)

Ref Sequence

ENSEMBL: ENSMUSP00000037600 (fasta)

Gene Model

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

AlphaFold

E9PYH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047075
AA Change: T523I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308
AA Change: T523I

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

possibly damaging
Transcript: ENSMUST00000047157
AA Change: T523I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308
AA Change: T523I

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	C	3: 59,932,339 (GRCm39)	T285P	probably benign	Het
Abcf1	T	C	17: 36,274,215 (GRCm39)	K186E	probably damaging	Het
Adam3	T	C	8: 25,177,981 (GRCm39)		probably null	Het
Art1	T	C	7: 101,759,956 (GRCm39)	V85A	possibly damaging	Het
Ccdc110	A	G	8: 46,394,859 (GRCm39)	H250R	probably benign	Het
Cyp3a13	T	A	5: 137,897,151 (GRCm39)	I388F	probably damaging	Het
Dnah11	C	T	12: 118,073,633 (GRCm39)	V1425M	probably damaging	Het
Donson	G	A	16: 91,478,134 (GRCm39)	Q22*	probably null	Het
Eif2b2	A	G	12: 85,270,173 (GRCm39)	T238A	probably benign	Het
Emc2	T	A	15: 43,371,249 (GRCm39)		probably null	Het
Fkbp4	A	T	6: 128,411,720 (GRCm39)	V123E	probably damaging	Het
Frem2	A	T	3: 53,563,682 (GRCm39)	M275K	possibly damaging	Het
Gcat	T	A	15: 78,920,210 (GRCm39)		probably benign	Het
Gemin2	G	A	12: 59,063,748 (GRCm39)		probably benign	Het
Ilf3	T	A	9: 21,303,646 (GRCm39)	V169E	probably damaging	Het
Klra17	T	C	6: 129,845,773 (GRCm39)	H147R	probably benign	Het
Lama5	A	G	2: 179,830,367 (GRCm39)	I1880T	probably benign	Het
Lzts1	T	C	8: 69,591,446 (GRCm39)	D234G	probably damaging	Het
Map3k4	G	A	17: 12,490,045 (GRCm39)	P462L	probably benign	Het
Marchf6	C	A	15: 31,462,087 (GRCm39)		probably benign	Het
Mcm6	A	T	1: 128,283,257 (GRCm39)	F83I	probably benign	Het
Mtpn	A	G	6: 35,499,708 (GRCm39)	L32P	probably damaging	Het
Mybpc3	A	T	2: 90,962,004 (GRCm39)	I841F	probably damaging	Het
Ndst2	G	T	14: 20,778,572 (GRCm39)	H399N	probably damaging	Het
Npat	G	T	9: 53,481,726 (GRCm39)	V1145F	probably damaging	Het
Or51b6	G	A	7: 103,555,717 (GRCm39)	A21T	probably benign	Het
P2ry1	T	A	3: 60,911,916 (GRCm39)	S352T	probably damaging	Het
Plaa	T	C	4: 94,472,133 (GRCm39)	T326A	probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Prb1b	T	A	6: 132,289,308 (GRCm39)	Q172L	unknown	Het
Sgcz	C	T	8: 38,030,294 (GRCm39)		probably null	Het
Slc12a2	T	C	18: 58,047,306 (GRCm39)	Y740H	possibly damaging	Het
Stab2	A	G	10: 86,690,985 (GRCm39)	C745R	probably damaging	Het
Tmem101	A	T	11: 102,046,611 (GRCm39)	L86Q	probably damaging	Het
Tmtc3	A	C	10: 100,313,702 (GRCm39)	F57V	probably damaging	Het
Vps50	A	G	6: 3,594,771 (GRCm39)	K778R	possibly damaging	Het
Washc5	G	A	15: 59,218,691 (GRCm39)	T692M	probably damaging	Het
Zc3hav1	A	T	6: 38,309,685 (GRCm39)	V379D	probably damaging	Het
Zfp142	G	T	1: 74,615,437 (GRCm39)	R459S	probably benign	Het
Zfp512b	A	G	2: 181,231,553 (GRCm39)	V199A	probably damaging	Het

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
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
FR4737:Setd1a	UTSW	7	127,384,484 (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

Posted On

2016-08-02