Mutagenetix > Incidental Mutation

Incidental Mutation 'R6247:Setd1b'

505679

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

MMRRC Submission

044366-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123280256-123306692 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 123296461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134461 (fasta)

Gene Model

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

AlphaFold

Q8CFT2

Predicted Effect

unknown
Transcript: ENSMUST00000056053
AA Change: T1141S

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: T1141S

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: T1141S

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: T1141S

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

probably benign
Transcript: ENSMUST00000174836

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,049,768 (GRCm39)	D871G	probably benign	Het
A4galt	G	T	15: 83,112,020 (GRCm39)	H254Q	probably damaging	Het
AA986860	C	A	1: 130,670,780 (GRCm39)	T334K	possibly damaging	Het
Abca13	T	C	11: 9,353,874 (GRCm39)	I3732T	probably benign	Het
Abcf1	C	T	17: 36,271,956 (GRCm39)	D353N	probably damaging	Het
Adss1	A	G	12: 112,594,790 (GRCm39)	H83R	probably damaging	Het
Amer2	C	A	14: 60,616,321 (GRCm39)	A172E	probably damaging	Het
Ankhd1	A	G	18: 36,787,199 (GRCm39)	T2300A	probably benign	Het
Ano5	G	A	7: 51,215,879 (GRCm39)		probably null	Het
Apob	G	A	12: 8,051,801 (GRCm39)	G1109D	probably damaging	Het
Arhgef26	A	T	3: 62,288,381 (GRCm39)	N484Y	probably damaging	Het
C6	A	G	15: 4,793,023 (GRCm39)	D376G	probably damaging	Het
Caml	T	C	13: 55,772,986 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,077 (GRCm39)	L473S	probably benign	Het
Cdk6	G	A	5: 3,394,553 (GRCm39)		probably null	Het
Cers5	A	T	15: 99,643,805 (GRCm39)	C153S	probably benign	Het
Cfap206	T	C	4: 34,692,530 (GRCm39)	M499V	probably benign	Het
Chd6	A	G	2: 160,791,968 (GRCm39)	M2463T	probably damaging	Het
Chn1	T	C	2: 73,537,350 (GRCm39)	E58G	possibly damaging	Het
Clec4a1	T	C	6: 122,905,001 (GRCm39)	V100A	probably benign	Het
Col7a1	G	C	9: 108,810,130 (GRCm39)		probably benign	Het
Csmd1	A	G	8: 16,246,249 (GRCm39)	V1050A	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd5a	A	T	7: 109,497,889 (GRCm39)	C1044S	probably damaging	Het
Dnah7b	A	G	1: 46,265,048 (GRCm39)	T2181A	probably benign	Het
Dnai1	T	C	4: 41,605,775 (GRCm39)	V255A	probably benign	Het
Dync2h1	A	G	9: 7,135,078 (GRCm39)	C1518R	probably damaging	Het
Dysf	T	C	6: 84,043,981 (GRCm39)	V273A	probably damaging	Het
Eif1	C	T	11: 100,211,223 (GRCm39)		probably benign	Het
Eml3	T	C	19: 8,908,313 (GRCm39)	I58T	probably benign	Het
Fam171b	T	A	2: 83,709,552 (GRCm39)	I408N	probably damaging	Het
Fchsd2	A	G	7: 100,902,747 (GRCm39)	E351G	probably benign	Het
Focad	G	A	4: 88,325,377 (GRCm39)	A81T	possibly damaging	Het
Fpr-rs4	G	A	17: 18,242,748 (GRCm39)	V252I	probably benign	Het
Fryl	A	G	5: 73,222,824 (GRCm39)	L1919P	probably damaging	Het
Gm12185	C	T	11: 48,806,735 (GRCm39)	R152H	probably damaging	Het
Gm14410	C	T	2: 176,885,517 (GRCm39)	G249E	probably damaging	Het
Gm6685	A	T	11: 28,289,706 (GRCm39)	S37T	possibly damaging	Het
Greb1	G	A	12: 16,766,676 (GRCm39)	P374L	probably damaging	Het
Hdac4	A	T	1: 91,940,560 (GRCm39)		probably null	Het
Hecw1	A	T	13: 14,409,010 (GRCm39)	L1099*	probably null	Het
Hivep1	T	C	13: 42,310,966 (GRCm39)	S1069P	probably benign	Het
Itgad	T	C	7: 127,784,959 (GRCm39)	I288T	possibly damaging	Het
Kif9	A	G	9: 110,317,612 (GRCm39)	M96V	possibly damaging	Het
Kncn	T	A	4: 115,741,987 (GRCm39)	V18E	probably damaging	Het
Lrrc74a	G	A	12: 86,805,330 (GRCm39)	G384D	probably damaging	Het
Ltb4r2	T	C	14: 56,000,108 (GRCm39)	V243A	probably damaging	Het
Mtnr1b	T	A	9: 15,774,082 (GRCm39)	I326L	probably benign	Het
Mylip	C	T	13: 45,561,957 (GRCm39)	T253I	probably damaging	Het
Necap1	T	A	6: 122,857,611 (GRCm39)		probably null	Het
Nedd4	C	T	9: 72,633,720 (GRCm39)	P409S	probably damaging	Het
Npat	A	T	9: 53,456,538 (GRCm39)	E36D	probably damaging	Het
Ovch2	C	T	7: 107,384,648 (GRCm39)	V490M	probably damaging	Het
Pax9	T	C	12: 56,756,480 (GRCm39)	S273P	probably benign	Het
Plce1	A	G	19: 38,734,289 (GRCm39)	E1563G	probably damaging	Het
Podxl2	C	A	6: 88,826,299 (GRCm39)	G336*	probably null	Het
Prdm1	A	G	10: 44,322,782 (GRCm39)		probably null	Het
Psme4	T	C	11: 30,803,245 (GRCm39)	I29T	possibly damaging	Het
Ptprd	A	T	4: 75,984,528 (GRCm39)	D780E	probably benign	Het
Retsat	T	C	6: 72,581,918 (GRCm39)	M294T	probably benign	Het
Robo2	A	T	16: 73,764,672 (GRCm39)	V652D	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Serpinb3d	G	T	1: 107,010,490 (GRCm39)	T66K	probably benign	Het
Slc7a10	G	T	7: 34,886,012 (GRCm39)	A36S	possibly damaging	Het
Sstr3	T	A	15: 78,423,788 (GRCm39)	I320F	probably damaging	Het
Syne1	G	T	10: 5,299,071 (GRCm39)	A1005E	probably damaging	Het
Syngap1	C	A	17: 27,181,931 (GRCm39)	S975*	probably null	Het
Tinagl1	C	T	4: 130,066,725 (GRCm39)	C124Y	probably null	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Tmed2	T	A	5: 124,685,055 (GRCm39)	I68K	possibly damaging	Het
Tmem104	A	G	11: 115,134,819 (GRCm39)	T451A	probably benign	Het
Tmem141	T	C	2: 25,511,693 (GRCm39)		probably null	Het
Tmem184a	C	A	5: 139,798,827 (GRCm39)	V41L	probably benign	Het
Tmem39b	C	T	4: 129,580,584 (GRCm39)	V303I	possibly damaging	Het
Tsn	T	C	1: 118,232,939 (GRCm39)	I122V	probably benign	Het
Ttc41	G	T	10: 86,612,527 (GRCm39)	V1267L	probably benign	Het
Uggt1	A	T	1: 36,202,309 (GRCm39)	L1096Q	probably damaging	Het
Usp50	A	T	2: 126,617,713 (GRCm39)	I244N	probably benign	Het
Vil1	A	G	1: 74,471,498 (GRCm39)	S760G	probably benign	Het
Wasf1	T	A	10: 40,813,741 (GRCm39)	V541E	unknown	Het
Zc3h13	G	T	14: 75,581,176 (GRCm39)	S1721I	probably benign	Het
Zfp180	G	T	7: 23,804,530 (GRCm39)	K316N	probably damaging	Het
Zfp582	T	C	7: 6,356,945 (GRCm39)	C253R	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp759	A	G	13: 67,288,524 (GRCm39)	T692A	probably benign	Het
Zfyve26	A	G	12: 79,329,758 (GRCm39)	V476A	probably benign	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
R0282:Setd1b	UTSW	5	123,299,080 (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
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'- GGGACATCACACTGATATTGGGG -3'
(R):5'- TTCTGCCATAGCCACTACCG -3'

Sequencing Primer
(F):5'- CTGCTGAAAGGAGTAGCTTCTGAC -3'
(R):5'- ACTACCGTGGCTGCAGC -3'

Posted On

2018-02-28