Mutagenetix > Incidental Mutation

Incidental Mutation 'R0282:Setd1b'

37608

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

MMRRC Submission

038504-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0282 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

123280256-123306692 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 123299080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056053] [ENSMUST00000162839] [ENSMUST00000163030] [ENSMUST00000174836]

AlphaFold

Q8CFT2

Predicted Effect

unknown
Transcript: ENSMUST00000056053
AA Change: N1705K

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: N1705K

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
RRM	103	176	6.41e-13	SMART
low complexity region	229	241	N/A	INTRINSIC
internal_repeat_1	248	266	1.29e-7	PROSPERO
internal_repeat_1	279	296	1.29e-7	PROSPERO
low complexity region	366	381	N/A	INTRINSIC
low complexity region	393	411	N/A	INTRINSIC
low complexity region	422	448	N/A	INTRINSIC
low complexity region	522	535	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	565	599	N/A	INTRINSIC
low complexity region	650	746	N/A	INTRINSIC
Blast:SET	749	976	5e-26	BLAST
low complexity region	979	992	N/A	INTRINSIC
coiled coil region	1053	1088	N/A	INTRINSIC
low complexity region	1136	1147	N/A	INTRINSIC
coiled coil region	1190	1213	N/A	INTRINSIC
low complexity region	1249	1262	N/A	INTRINSIC
low complexity region	1281	1292	N/A	INTRINSIC
low complexity region	1322	1383	N/A	INTRINSIC
low complexity region	1402	1442	N/A	INTRINSIC
low complexity region	1484	1548	N/A	INTRINSIC
low complexity region	1600	1618	N/A	INTRINSIC
N-SET	1692	1836	1.54e-67	SMART
SET	1846	1969	4.03e-36	SMART
PostSET	1969	1985	4.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162839

SMART Domains

Protein: ENSMUSP00000134353
Gene: ENSMUSG00000038384

Domain	Start	End	E-Value	Type
SET	1	86	7.26e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000163030
AA Change: N1705K

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: N1705K

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
RRM	103	176	6.41e-13	SMART
low complexity region	229	241	N/A	INTRINSIC
internal_repeat_1	248	266	1.29e-7	PROSPERO
internal_repeat_1	279	296	1.29e-7	PROSPERO
low complexity region	366	381	N/A	INTRINSIC
low complexity region	393	411	N/A	INTRINSIC
low complexity region	422	448	N/A	INTRINSIC
low complexity region	522	535	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	565	599	N/A	INTRINSIC
low complexity region	650	746	N/A	INTRINSIC
Blast:SET	749	976	5e-26	BLAST
low complexity region	979	992	N/A	INTRINSIC
coiled coil region	1053	1088	N/A	INTRINSIC
low complexity region	1136	1147	N/A	INTRINSIC
coiled coil region	1190	1213	N/A	INTRINSIC
low complexity region	1249	1262	N/A	INTRINSIC
low complexity region	1281	1292	N/A	INTRINSIC
low complexity region	1322	1383	N/A	INTRINSIC
low complexity region	1402	1442	N/A	INTRINSIC
low complexity region	1484	1548	N/A	INTRINSIC
low complexity region	1600	1618	N/A	INTRINSIC
N-SET	1692	1836	1.54e-67	SMART
SET	1846	1969	4.03e-36	SMART
PostSET	1969	1985	4.8e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173221

Predicted Effect

unknown
Transcript: ENSMUST00000174836
AA Change: N1664K

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: N1664K

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
RRM	103	176	6.41e-13	SMART
low complexity region	229	241	N/A	INTRINSIC
internal_repeat_1	248	266	1.92e-7	PROSPERO
internal_repeat_1	279	296	1.92e-7	PROSPERO
low complexity region	366	381	N/A	INTRINSIC
low complexity region	393	411	N/A	INTRINSIC
low complexity region	422	448	N/A	INTRINSIC
low complexity region	522	535	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	565	599	N/A	INTRINSIC
low complexity region	650	746	N/A	INTRINSIC
Blast:SET	749	976	5e-26	BLAST
low complexity region	979	992	N/A	INTRINSIC
coiled coil region	1053	1088	N/A	INTRINSIC
coiled coil region	1149	1172	N/A	INTRINSIC
low complexity region	1208	1221	N/A	INTRINSIC
low complexity region	1240	1251	N/A	INTRINSIC
low complexity region	1281	1342	N/A	INTRINSIC
low complexity region	1361	1401	N/A	INTRINSIC
low complexity region	1443	1507	N/A	INTRINSIC
low complexity region	1559	1577	N/A	INTRINSIC
N-SET	1651	1795	1.54e-67	SMART
SET	1805	1928	4.03e-36	SMART
PostSET	1928	1944	4.8e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181022

Meta Mutation Damage Score

0.1431

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (72/72)

MGI Phenotype

PHENOTYPE: Homozygous mutant animals died during organogenesis by E11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Afap1l2	A	G	19: 56,904,653 (GRCm39)	S549P	possibly damaging	Het
Alcam	A	T	16: 52,116,104 (GRCm39)	C157S	probably damaging	Het
Aldh1a1	T	C	19: 20,606,413 (GRCm39)		probably benign	Het
Ano8	G	A	8: 71,933,258 (GRCm39)		probably benign	Het
Atr	T	C	9: 95,744,851 (GRCm39)	V56A	probably benign	Het
Aurkc	T	A	7: 7,005,427 (GRCm39)		probably null	Het
Bnip3	T	C	7: 138,499,759 (GRCm39)	D76G	probably damaging	Het
Cbr1	A	G	16: 93,407,022 (GRCm39)	E246G	possibly damaging	Het
Ccdc157	G	T	11: 4,096,708 (GRCm39)	A449D	probably damaging	Het
Ces3b	T	A	8: 105,810,483 (GRCm39)	V26D	probably benign	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crk	G	T	11: 75,594,195 (GRCm39)	G261C	probably damaging	Het
Ctbp1	A	G	5: 33,408,200 (GRCm39)		probably null	Het
Ctnna1	G	A	18: 35,377,175 (GRCm39)	V572I	possibly damaging	Het
D430041D05Rik	T	C	2: 104,031,589 (GRCm39)	Y1669C	probably damaging	Het
Dnah8	T	C	17: 30,955,130 (GRCm39)	F2053S	probably damaging	Het
Dner	G	A	1: 84,383,686 (GRCm39)	T566M	probably damaging	Het
Dner	A	G	1: 84,423,101 (GRCm39)		probably benign	Het
Edrf1	T	C	7: 133,245,751 (GRCm39)	V223A	probably benign	Het
Fam169a	A	G	13: 97,234,223 (GRCm39)		probably benign	Het
Fbxl3	G	A	14: 103,332,661 (GRCm39)	H106Y	probably damaging	Het
Fiz1	A	G	7: 5,012,200 (GRCm39)	V106A	probably benign	Het
Gapvd1	T	A	2: 34,578,972 (GRCm39)	R654*	probably null	Het
Gm7589	G	A	9: 59,053,288 (GRCm39)		noncoding transcript	Het
Ifi202b	A	T	1: 173,804,926 (GRCm39)	S9T	probably benign	Het
Ipmk	G	C	10: 71,208,661 (GRCm39)	S149T	probably benign	Het
Irgm2	A	G	11: 58,110,345 (GRCm39)	E24G	probably benign	Het
Itga2b	A	C	11: 102,351,672 (GRCm39)	V551G	probably damaging	Het
Itgad	C	T	7: 127,789,150 (GRCm39)		probably benign	Het
Kcnh8	T	A	17: 53,032,879 (GRCm39)	F55L	probably damaging	Het
Kdr	G	A	5: 76,110,760 (GRCm39)		probably benign	Het
Krt35	T	C	11: 99,986,573 (GRCm39)	Y147C	probably damaging	Het
Lamc1	A	G	1: 153,131,058 (GRCm39)	F298L	probably benign	Het
Lrrk2	T	C	15: 91,662,617 (GRCm39)		probably benign	Het
Matn1	T	C	4: 130,673,238 (GRCm39)	S69P	probably damaging	Het
Micall1	G	T	15: 79,016,101 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,818,884 (GRCm39)	V257A	possibly damaging	Het
Mybpc3	G	C	2: 90,954,369 (GRCm39)		probably benign	Het
Mycn	A	G	12: 12,987,314 (GRCm39)	V361A	probably benign	Het
Myo10	A	G	15: 25,793,253 (GRCm39)	T1277A	probably damaging	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Nup50l	T	C	6: 96,141,797 (GRCm39)	T416A	probably benign	Het
Or10g1	A	G	14: 52,647,720 (GRCm39)	V203A	possibly damaging	Het
Or2k2	A	G	4: 58,785,344 (GRCm39)	I126T	probably damaging	Het
Or4c104	G	A	2: 88,586,800 (GRCm39)	T73I	probably damaging	Het
Or56b1b	T	A	7: 108,164,684 (GRCm39)	Q106L	probably damaging	Het
Otog	C	T	7: 45,926,917 (GRCm39)	T1222I	possibly damaging	Het
P4ha1	C	T	10: 59,172,970 (GRCm39)	T23M	probably damaging	Het
Pld1	A	T	3: 28,132,422 (GRCm39)	I537F	probably benign	Het
Plekhn1	A	G	4: 156,312,780 (GRCm39)		probably benign	Het
Pxdn	C	A	12: 30,034,439 (GRCm39)	S8*	probably null	Het
Rnf135	A	T	11: 80,084,784 (GRCm39)	I186F	probably damaging	Het
Rock2	T	C	12: 17,027,887 (GRCm39)		probably benign	Het
Rph3a	C	A	5: 121,101,973 (GRCm39)	G88*	probably null	Het
Sarm1	G	A	11: 78,365,806 (GRCm39)	Q740*	probably null	Het
Sidt1	A	G	16: 44,102,249 (GRCm39)	S304P	possibly damaging	Het
Slc2a4	A	T	11: 69,837,181 (GRCm39)	V85E	probably damaging	Het
Swi5	A	G	2: 32,170,766 (GRCm39)	Y54H	probably damaging	Het
Sycp1	A	G	3: 102,823,111 (GRCm39)		probably benign	Het
Tarm1	T	C	7: 3,546,006 (GRCm39)	Y87C	probably damaging	Het
Tmem67	G	A	4: 12,087,930 (GRCm39)	T72M	probably damaging	Het
Tor1a	A	G	2: 30,857,737 (GRCm39)	Y44H	possibly damaging	Het
Ttll5	T	C	12: 86,042,827 (GRCm39)	Y1128H	probably benign	Het
Usp40	G	A	1: 87,908,680 (GRCm39)		probably benign	Het
Vmn2r18	A	T	5: 151,508,668 (GRCm39)	M152K	probably benign	Het
Xirp2	T	A	2: 67,343,724 (GRCm39)	D1988E	probably damaging	Het
Zfp420	A	G	7: 29,575,105 (GRCm39)	I442V	probably benign	Het
Zyx	A	G	6: 42,332,939 (GRCm39)	E363G	probably damaging	Het

Other mutations in Setd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Setd1b	APN	5	123,296,810 (GRCm39)	unclassified	probably benign
IGL01453:Setd1b	APN	5	123,296,527 (GRCm39)	intron	probably benign
IGL01637:Setd1b	APN	5	123,286,576 (GRCm39)	missense	unknown
IGL01792:Setd1b	APN	5	123,295,209 (GRCm39)	missense	unknown
IGL01877:Setd1b	APN	5	123,286,511 (GRCm39)	missense	unknown
IGL01906:Setd1b	APN	5	123,295,730 (GRCm39)	missense	unknown
IGL01942:Setd1b	APN	5	123,301,489 (GRCm39)	missense	possibly damaging	0.73
IGL02284:Setd1b	APN	5	123,301,491 (GRCm39)	missense	possibly damaging	0.52
IGL02667:Setd1b	APN	5	123,295,560 (GRCm39)	missense	unknown
IGL02850:Setd1b	APN	5	123,286,652 (GRCm39)	missense	unknown
IGL02864:Setd1b	APN	5	123,297,002 (GRCm39)	unclassified	probably benign
IGL03006:Setd1b	APN	5	123,286,514 (GRCm39)	missense	unknown
IGL03307:Setd1b	APN	5	123,286,734 (GRCm39)	missense	unknown
P0037:Setd1b	UTSW	5	123,303,984 (GRCm39)	unclassified	probably benign
R0375:Setd1b	UTSW	5	123,295,500 (GRCm39)	missense	unknown
R0550:Setd1b	UTSW	5	123,295,723 (GRCm39)	missense	unknown
R0607:Setd1b	UTSW	5	123,298,014 (GRCm39)	unclassified	probably benign
R0844:Setd1b	UTSW	5	123,298,748 (GRCm39)	unclassified	probably benign
R0973:Setd1b	UTSW	5	123,298,766 (GRCm39)	small insertion	probably benign
R1119:Setd1b	UTSW	5	123,285,779 (GRCm39)	missense	unknown
R1266:Setd1b	UTSW	5	123,285,904 (GRCm39)	missense	unknown
R1370:Setd1b	UTSW	5	123,298,748 (GRCm39)	unclassified	probably benign
R1416:Setd1b	UTSW	5	123,298,748 (GRCm39)	unclassified	probably benign
R1575:Setd1b	UTSW	5	123,301,210 (GRCm39)	splice site	probably benign
R1862:Setd1b	UTSW	5	123,285,676 (GRCm39)	missense	unknown
R1987:Setd1b	UTSW	5	123,285,769 (GRCm39)	missense	unknown
R4109:Setd1b	UTSW	5	123,290,137 (GRCm39)	small deletion	probably benign
R4399:Setd1b	UTSW	5	123,299,861 (GRCm39)	unclassified	probably benign
R4445:Setd1b	UTSW	5	123,286,167 (GRCm39)	missense	unknown
R4577:Setd1b	UTSW	5	123,286,679 (GRCm39)	missense	unknown
R4604:Setd1b	UTSW	5	123,290,137 (GRCm39)	small deletion	probably benign
R4647:Setd1b	UTSW	5	123,286,175 (GRCm39)	missense	unknown
R4648:Setd1b	UTSW	5	123,286,175 (GRCm39)	missense	unknown
R4675:Setd1b	UTSW	5	123,299,061 (GRCm39)	unclassified	probably benign
R5044:Setd1b	UTSW	5	123,289,929 (GRCm39)	missense	unknown
R5071:Setd1b	UTSW	5	123,298,977 (GRCm39)	unclassified	probably benign
R5220:Setd1b	UTSW	5	123,281,471 (GRCm39)	missense	unknown
R5933:Setd1b	UTSW	5	123,296,815 (GRCm39)	unclassified	probably benign
R6247:Setd1b	UTSW	5	123,296,461 (GRCm39)	intron	probably benign
R6446:Setd1b	UTSW	5	123,299,862 (GRCm39)	unclassified	probably benign
R6714:Setd1b	UTSW	5	123,295,654 (GRCm39)	missense	unknown
R6907:Setd1b	UTSW	5	123,301,295 (GRCm39)	unclassified	probably benign
R7328:Setd1b	UTSW	5	123,290,442 (GRCm39)	missense	unknown
R7412:Setd1b	UTSW	5	123,290,639 (GRCm39)	missense	unknown
R7486:Setd1b	UTSW	5	123,301,655 (GRCm39)	missense	probably benign	0.03
R7542:Setd1b	UTSW	5	123,286,510 (GRCm39)	missense	unknown
R7555:Setd1b	UTSW	5	123,295,820 (GRCm39)	missense	unknown
R7611:Setd1b	UTSW	5	123,290,657 (GRCm39)	missense	unknown
R7764:Setd1b	UTSW	5	123,284,622 (GRCm39)	missense	unknown
R7770:Setd1b	UTSW	5	123,296,815 (GRCm39)	unclassified	probably benign
R7881:Setd1b	UTSW	5	123,290,336 (GRCm39)	missense	unknown
R7977:Setd1b	UTSW	5	123,285,743 (GRCm39)	missense	unknown
R7987:Setd1b	UTSW	5	123,285,743 (GRCm39)	missense	unknown
R8131:Setd1b	UTSW	5	123,281,443 (GRCm39)	missense	unknown
R8386:Setd1b	UTSW	5	123,282,319 (GRCm39)	missense	unknown
R8845:Setd1b	UTSW	5	123,282,310 (GRCm39)	missense	unknown
R8901:Setd1b	UTSW	5	123,299,114 (GRCm39)	unclassified	probably benign
R9224:Setd1b	UTSW	5	123,296,773 (GRCm39)	missense	unknown
R9438:Setd1b	UTSW	5	123,285,944 (GRCm39)	missense	unknown
R9643:Setd1b	UTSW	5	123,298,401 (GRCm39)	missense	probably damaging	1.00
R9664:Setd1b	UTSW	5	123,298,046 (GRCm39)	missense	unknown
Z1177:Setd1b	UTSW	5	123,296,688 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGCTACCCTTCAAGGAGCTGGAC -3'
(R):5'- TCCCACAAGATGGGATGCCTAGAG -3'

Sequencing Primer
(F):5'- AGTGGCCCTCTGAAGCTATC -3'
(R):5'- AGTGTGTCATTCAGCCAGTC -3'

Posted On

2013-05-23