Mutagenetix > Incidental Mutation

Incidental Mutation 'R0550:Setd1b'

45082

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

MMRRC Submission

038742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0550 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123142193-123168629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 123157660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 1097 (S1097I)

Ref Sequence

ENSEMBL: ENSMUSP00000134461 (fasta)

Gene Model

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

AlphaFold

Q8CFT2

Predicted Effect

unknown
Transcript: ENSMUST00000056053
AA Change: S1097I

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: S1097I

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

unknown
Transcript: ENSMUST00000163030
AA Change: S1097I

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: S1097I

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

unknown
Transcript: ENSMUST00000174836
AA Change: S1097I

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: S1097I

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: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

99% (76/77)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,840	Y947N	probably damaging	Het
Acss3	C	A	10: 107,053,471	G163C	probably damaging	Het
Adcy10	A	G	1: 165,565,315	T1367A	probably benign	Het
Adcy2	A	T	13: 68,982,361	S136T	probably benign	Het
Ahdc1	G	A	4: 133,063,037	V530I	probably benign	Het
Aldh16a1	C	T	7: 45,146,229		probably null	Het
Ankrd36	T	C	11: 5,607,429		probably null	Het
Aqr	A	C	2: 114,132,976	N664K	probably damaging	Het
Atp6v1c1	T	C	15: 38,682,929		probably benign	Het
Atp8b2	C	T	3: 89,959,061		probably benign	Het
Bbx	T	C	16: 50,274,533		probably benign	Het
Bmper	T	A	9: 23,373,885	D243E	probably benign	Het
Casz1	GCCACCACCACCACCACCACCAC	GCCACCACCACCACCACCAC	4: 148,952,284		probably benign	Het
Catsperd	T	C	17: 56,663,427		probably null	Het
Ccdc92b	T	A	11: 74,629,945		probably null	Het
Cd2bp2	G	T	7: 127,193,824	T342K	probably damaging	Het
Clrn3	T	A	7: 135,528,425	I27F	possibly damaging	Het
Cnih3	TTGACGAG	T	1: 181,406,477		probably null	Het
Cntnap3	T	C	13: 64,762,000	T764A	possibly damaging	Het
Cttnbp2	T	G	6: 18,435,309	K183N	possibly damaging	Het
Cwc27	G	A	13: 104,804,949	P155L	probably damaging	Het
Dcaf10	T	C	4: 45,372,753	S389P	probably benign	Het
Ddx18	T	C	1: 121,555,375	K561E	probably benign	Het
Dkk3	A	G	7: 112,158,245	F51L	probably damaging	Het
Dnaic1	C	T	4: 41,596,274	R20*	probably null	Het
Dr1	G	A	5: 108,269,605	G6S	probably benign	Het
Dync2h1	A	T	9: 7,120,954		probably null	Het
Eif3l	A	G	15: 79,076,867	Y16C	probably damaging	Het
Epb41	A	G	4: 131,975,613	I464T	probably damaging	Het
Erc2	A	G	14: 28,271,651	K546E	possibly damaging	Het
F830045P16Rik	T	C	2: 129,463,509	D315G	probably damaging	Het
Fads6	A	G	11: 115,296,677	I64T	probably benign	Het
Fshr	T	C	17: 89,045,125	N107S	probably benign	Het
Gbp11	A	T	5: 105,343,750	N60K	probably benign	Het
Gm2a	C	T	11: 55,103,665	Q54*	probably null	Het
Hydin	A	G	8: 110,587,775	D4297G	probably benign	Het
Il6st	G	A	13: 112,475,114		probably null	Het
Inpp4b	T	A	8: 81,997,337	H499Q	probably benign	Het
Kif5c	A	G	2: 49,758,912	K956R	possibly damaging	Het
Krt74	G	A	15: 101,760,679		noncoding transcript	Het
Map3k9	A	T	12: 81,725,781	L649Q	probably damaging	Het
Mdn1	A	G	4: 32,730,479	D2871G	probably benign	Het
Mylk4	T	C	13: 32,716,666	T294A	probably benign	Het
Nbeal2	C	T	9: 110,642,158	V252I	probably benign	Het
Nectin3	A	G	16: 46,458,820	I265T	possibly damaging	Het
Olfr1065	A	T	2: 86,445,876	Y35*	probably null	Het
Olfr1109	G	T	2: 87,093,129	H89Q	probably benign	Het
Olfr1259	A	G	2: 89,943,389	I242T	probably damaging	Het
Olfr1447	A	T	19: 12,901,800		probably null	Het
Olfr181	A	G	16: 58,926,385	F62S	probably damaging	Het
Olfr554	G	A	7: 102,640,950	E235K	possibly damaging	Het
Olfr910	T	A	9: 38,539,380	C162S	probably damaging	Het
Opn1sw	A	T	6: 29,380,204	L71Q	probably damaging	Het
Pced1a	G	A	2: 130,419,633	P367S	probably benign	Het
Pkhd1	A	T	1: 20,347,223	M2568K	probably null	Het
Pla2r1	A	G	2: 60,425,350		probably null	Het
Plpp1	T	C	13: 112,834,985	I62T	probably benign	Het
Polr3g	G	A	13: 81,694,773	T41I	probably damaging	Het
Ptch2	T	C	4: 117,096,433		probably benign	Het
Sema4g	A	T	19: 44,997,665	H315L	probably benign	Het
Sfxn4	A	G	19: 60,850,945		probably benign	Het
Sh3tc1	T	C	5: 35,699,784	E1237G	probably damaging	Het
Slc25a38	A	T	9: 120,123,643	N287I	probably benign	Het
Slc25a48	A	G	13: 56,448,998	T31A	probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc8b1	A	G	5: 120,531,155		probably benign	Het
Slco4c1	A	C	1: 96,867,859	V158G	probably damaging	Het
Sptbn4	T	C	7: 27,364,378	T2208A	probably benign	Het
Srebf1	G	A	11: 60,201,676	T843I	probably benign	Het
Srl	A	G	16: 4,487,565	W101R	probably damaging	Het
St6galnac4	T	A	2: 32,594,019	C76*	probably null	Het
Tdrd3	C	A	14: 87,486,220	T290K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trpm3	A	G	19: 22,987,812	E1547G	probably damaging	Het
Ubn1	A	G	16: 5,062,620		probably null	Het
Usp10	T	A	8: 119,947,801	I456K	probably damaging	Het
Usp6nl	A	G	2: 6,400,323		probably benign	Het
Vit	T	A	17: 78,624,793	V443E	possibly damaging	Het
Whamm	G	A	7: 81,586,224	V392I	possibly damaging	Het
Zfhx4	A	G	3: 5,400,494	K1904R	probably damaging	Het
Zfp352	A	T	4: 90,224,690	T356S	probably damaging	Het

Other mutations in Setd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Setd1b	APN	5	123158747	unclassified	probably benign
IGL01453:Setd1b	APN	5	123158464	intron	probably benign
IGL01637:Setd1b	APN	5	123148513	missense	unknown
IGL01792:Setd1b	APN	5	123157146	missense	unknown
IGL01877:Setd1b	APN	5	123148448	missense	unknown
IGL01906:Setd1b	APN	5	123157667	missense	unknown
IGL01942:Setd1b	APN	5	123163426	missense	possibly damaging	0.73
IGL02284:Setd1b	APN	5	123163428	missense	possibly damaging	0.52
IGL02667:Setd1b	APN	5	123157497	missense	unknown
IGL02850:Setd1b	APN	5	123148589	missense	unknown
IGL02864:Setd1b	APN	5	123158939	unclassified	probably benign
IGL03006:Setd1b	APN	5	123148451	missense	unknown
IGL03307:Setd1b	APN	5	123148671	missense	unknown
P0037:Setd1b	UTSW	5	123165921	unclassified	probably benign
R0282:Setd1b	UTSW	5	123161017	unclassified	probably benign
R0375:Setd1b	UTSW	5	123157437	missense	unknown
R0607:Setd1b	UTSW	5	123159951	unclassified	probably benign
R0844:Setd1b	UTSW	5	123160685	unclassified	probably benign
R0973:Setd1b	UTSW	5	123160703	small insertion	probably benign
R1119:Setd1b	UTSW	5	123147716	missense	unknown
R1266:Setd1b	UTSW	5	123147841	missense	unknown
R1370:Setd1b	UTSW	5	123160685	unclassified	probably benign
R1416:Setd1b	UTSW	5	123160685	unclassified	probably benign
R1575:Setd1b	UTSW	5	123163147	splice site	probably benign
R1862:Setd1b	UTSW	5	123147613	missense	unknown
R1987:Setd1b	UTSW	5	123147706	missense	unknown
R4109:Setd1b	UTSW	5	123152074	small deletion	probably benign
R4399:Setd1b	UTSW	5	123161798	unclassified	probably benign
R4445:Setd1b	UTSW	5	123148104	missense	unknown
R4577:Setd1b	UTSW	5	123148616	missense	unknown
R4604:Setd1b	UTSW	5	123152074	small deletion	probably benign
R4647:Setd1b	UTSW	5	123148112	missense	unknown
R4648:Setd1b	UTSW	5	123148112	missense	unknown
R4675:Setd1b	UTSW	5	123160998	unclassified	probably benign
R5044:Setd1b	UTSW	5	123151866	missense	unknown
R5071:Setd1b	UTSW	5	123160914	unclassified	probably benign
R5220:Setd1b	UTSW	5	123143408	missense	unknown
R5933:Setd1b	UTSW	5	123158752	unclassified	probably benign
R6247:Setd1b	UTSW	5	123158398	intron	probably benign
R6446:Setd1b	UTSW	5	123161799	unclassified	probably benign
R6714:Setd1b	UTSW	5	123157591	missense	unknown
R6907:Setd1b	UTSW	5	123163232	unclassified	probably benign
R7328:Setd1b	UTSW	5	123152379	missense	unknown
R7412:Setd1b	UTSW	5	123152576	missense	unknown
R7486:Setd1b	UTSW	5	123163592	missense	probably benign	0.03
R7542:Setd1b	UTSW	5	123148447	missense	unknown
R7555:Setd1b	UTSW	5	123157757	missense	unknown
R7611:Setd1b	UTSW	5	123152594	missense	unknown
R7764:Setd1b	UTSW	5	123146559	missense	unknown
R7770:Setd1b	UTSW	5	123158752	unclassified	probably benign
R7881:Setd1b	UTSW	5	123152273	missense	unknown
R7977:Setd1b	UTSW	5	123147680	missense	unknown
R7987:Setd1b	UTSW	5	123147680	missense	unknown
R8131:Setd1b	UTSW	5	123143380	missense	unknown
R8386:Setd1b	UTSW	5	123144256	missense	unknown
R8845:Setd1b	UTSW	5	123144247	missense	unknown
R8901:Setd1b	UTSW	5	123161051	unclassified	probably benign
R9224:Setd1b	UTSW	5	123158710	missense	unknown
R9438:Setd1b	UTSW	5	123147881	missense	unknown
R9643:Setd1b	UTSW	5	123160338	missense	probably damaging	1.00
R9664:Setd1b	UTSW	5	123159983	missense	unknown
Z1177:Setd1b	UTSW	5	123158625	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGATGCTCCCTGCGAACTCAC -3'
(R):5'- GGGACAACCACTTCCCTGCTTAC -3'

Sequencing Primer
(F):5'- tcctcctcttcctcagcatc -3'
(R):5'- ACCCTCCTCAGAATCTCCATTG -3'

Posted On

2013-06-11