Mutagenetix > Incidental Mutation

Incidental Mutation 'R4577:Setd1b'

342542

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123142193-123168629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123148616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 575 (E575G)

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: E575G

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: E575G

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: ENSMUST00000100731

Predicted Effect

unknown
Transcript: ENSMUST00000163030
AA Change: E575G

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: E575G

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: E575G

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: E575G

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	G	7: 139,978,130	I51T	probably damaging	Het
Abca1	C	A	4: 53,062,568	C1429F	possibly damaging	Het
Acacb	A	G	5: 114,226,831	E1524G	probably damaging	Het
Ankrd50	A	G	3: 38,455,941	V759A	probably damaging	Het
Ano9	T	C	7: 141,104,138	Q538R	probably damaging	Het
Bnip2	A	G	9: 69,997,162	D67G	probably benign	Het
Cacna1e	A	T	1: 154,402,027	S2060T	possibly damaging	Het
Cand2	G	A	6: 115,791,259	C455Y	probably damaging	Het
Cdh16	T	C	8: 104,618,559	D366G	probably damaging	Het
Cep170b	A	G	12: 112,744,718	R595G	probably damaging	Het
Chaf1a	G	A	17: 56,065,184	R784Q	probably damaging	Het
Clca4a	C	A	3: 144,954,969	S698I	probably damaging	Het
Dnah5	A	C	15: 28,289,250	Y1195S	probably benign	Het
Dysf	T	C	6: 84,137,326	I1229T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Ep300	T	C	15: 81,649,009	S1756P	unknown	Het
Ep300	T	A	15: 81,611,410		probably benign	Het
F3	A	G	3: 121,734,114	I254V	probably benign	Het
Fam166a	T	C	2: 25,220,288	S71P	probably benign	Het
Frmd4a	C	A	2: 4,603,679	A786E	possibly damaging	Het
Fsd1l	T	C	4: 53,686,397	F270S	probably damaging	Het
Galnt3	T	C	2: 66,097,859	Y231C	probably benign	Het
Gm10220	A	C	5: 26,117,871	I181S	probably benign	Het
Gm13178	A	C	4: 144,703,753	I222S	probably damaging	Het
Gnb5	G	A	9: 75,343,541	V316I	possibly damaging	Het
Gys2	A	G	6: 142,454,510	F325S	possibly damaging	Het
Hmgn2	G	A	4: 133,967,357		probably benign	Het
Hsph1	A	G	5: 149,618,843	V705A	probably benign	Het
Ighg2b	T	C	12: 113,306,892	E206G	unknown	Het
Iqub	A	T	6: 24,501,291	I220N	probably damaging	Het
Jmjd1c	A	G	10: 67,249,750	T2259A	probably damaging	Het
Kcnq3	T	C	15: 66,286,214	K4R	unknown	Het
Klk12	A	G	7: 43,773,243	D198G	probably damaging	Het
L3mbtl2	G	A	15: 81,686,285	E655K	probably benign	Het
Lrp1b	C	T	2: 40,821,719	C3163Y	probably damaging	Het
Map3k19	T	A	1: 127,822,813	R934*	probably null	Het
Map4	A	G	9: 110,081,421	T1061A	possibly damaging	Het
Mbnl1	G	A	3: 60,529,778	V50I	probably damaging	Het
Med15	G	A	16: 17,674,515	Q132*	probably null	Het
Mef2a	T	C	7: 67,240,439	N131S	probably benign	Het
Mtmr3	G	C	11: 4,497,375	L361V	probably damaging	Het
Myo5a	A	G	9: 75,217,545	E1792G	probably damaging	Het
Nup88	C	A	11: 70,969,717	A55S	probably damaging	Het
Olfr1252	T	C	2: 89,722,043	K23E	possibly damaging	Het
Olfr374	T	A	8: 72,110,323	Y252*	probably null	Het
Pacs1	G	T	19: 5,143,833	S556*	probably null	Het
Parp4	A	G	14: 56,590,410	E206G	probably benign	Het
Paxbp1	T	G	16: 91,015,154	K889N	probably damaging	Het
Pcdhga2	G	A	18: 37,669,249	A49T	possibly damaging	Het
Pcsk6	T	A	7: 65,959,266	L292*	probably null	Het
Plb1	C	T	5: 32,247,557	Q20*	probably null	Het
Plec	C	A	15: 76,184,069	Q1142H	possibly damaging	Het
Pnpla2	T	C	7: 141,457,344	S87P	probably damaging	Het
Prss28	T	C	17: 25,310,105	V140A	probably damaging	Het
Rad17	A	T	13: 100,633,278	S258T	probably damaging	Het
Rnf111	A	T	9: 70,429,584	C932*	probably null	Het
Sdc2	T	C	15: 33,017,132	Y31H	probably damaging	Het
Selenoh	T	C	2: 84,670,331	E55G	possibly damaging	Het
Serpina3k	T	G	12: 104,344,192	V327G	possibly damaging	Het
Slco1a4	A	T	6: 141,819,540	S325R	probably damaging	Het
Smtnl1	C	A	2: 84,818,443	V156L	possibly damaging	Het
Speg	A	G	1: 75,415,395	D1607G	probably damaging	Het
Tctex1d4	A	G	4: 117,128,615	T212A	possibly damaging	Het
Tmem101	T	A	11: 102,155,837	M69L	possibly damaging	Het
Treh	G	A	9: 44,685,911	M542I	probably benign	Het
Trim30b	T	C	7: 104,357,331	Y106C	possibly damaging	Het
Ttc6	T	C	12: 57,576,655	I280T	probably benign	Het
Ubtfl1	A	G	9: 18,409,493	T106A	probably damaging	Het
Wdr27	T	C	17: 14,903,462	H583R	probably benign	Het
Xirp2	C	T	2: 67,513,897	P2161S	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
R0550:Setd1b	UTSW	5	123157660	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
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
Z1177:Setd1b	UTSW	5	123158625	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GACTCAGACACCGAGATACAGATG -3'
(R):5'- TGCTCCCGCATCTTAGCTAG -3'

Sequencing Primer
(F):5'- TACAGATGGAAGGCAGCCCC -3'
(R):5'- GCTCCCGCATCTTAGCTAGTAAAATG -3'

Posted On

2015-09-24