Mutagenetix > Incidental Mutations

Incidental Mutation 'R4445:Setd1b'

329831

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

MMRRC Submission

041151-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4445 (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 123148104 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 404 (E404D)

Ref Sequence

ENSEMBL: ENSMUSP00000134461 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000056053
AA Change: E404D

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: E404D

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: E404D

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: E404D

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: E404D

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: E404D

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: 96.9%
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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	T	19: 5,502,994	V253D	probably damaging	Het
2410089E03Rik	A	G	15: 8,252,188	D2837G	unknown	Het
Adgrg6	A	G	10: 14,409,763	S1160P	probably damaging	Het
Adgrl1	T	C	8: 83,934,860	L962P	probably damaging	Het
Als2cr12	A	T	1: 58,666,921	I263K	possibly damaging	Het
Arl6	A	T	16: 59,624,313	I51K	probably damaging	Het
Calcoco1	A	G	15: 102,715,740		probably null	Het
Cd59a	A	G	2: 104,110,818	Q47R	probably benign	Het
Cdkl2	G	A	5: 92,020,309	T342I	probably benign	Het
Cfap45	G	A	1: 172,535,227	V262M	probably benign	Het
Chd8	A	T	14: 52,204,527		probably null	Het
Cntnap2	C	T	6: 46,759,851	T737I	probably benign	Het
Crot	T	C	5: 8,973,643	H415R	probably damaging	Het
Cyp17a1	A	G	19: 46,668,023	F411L	probably damaging	Het
Cyp4a12a	G	A	4: 115,326,783		probably null	Het
Cysltr2	G	A	14: 73,029,893	H126Y	possibly damaging	Het
Ddx56	A	T	11: 6,265,770		probably null	Het
Elmod1	T	A	9: 53,934,129	D93V	probably damaging	Het
Epb41l2	T	C	10: 25,443,803	L178P	possibly damaging	Het
Galnt10	T	A	11: 57,783,691	V502D	probably damaging	Het
Gm11735	T	C	11: 116,739,062		noncoding transcript	Het
Hist1h4k	T	C	13: 21,750,343	T55A	possibly damaging	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Igsf9b	A	G	9: 27,334,252	T1172A	probably benign	Het
Ip6k3	A	G	17: 27,145,102	I324T	probably benign	Het
Klkb1	C	T	8: 45,277,055	S263N	probably benign	Het
Lrit3	A	T	3: 129,788,531	C602*	probably null	Het
Lyst	T	C	13: 13,709,564	S2986P	probably benign	Het
Mapkapk5	T	C	5: 121,525,228	T445A	probably benign	Het
Mms19	A	T	19: 41,963,933	M119K	possibly damaging	Het
Myo7a	T	C	7: 98,066,404	D63G	probably damaging	Het
Nsun2	G	A	13: 69,629,721		probably null	Het
Olfr356	T	G	2: 36,937,551	L144R	probably damaging	Het
Olfr538	C	A	7: 140,574,389	P79T	probably damaging	Het
Olfr574	T	C	7: 102,948,798	L101P	possibly damaging	Het
Olfr694	T	A	7: 106,689,146	Y195F	possibly damaging	Het
Pabpc2	T	C	18: 39,774,200	F173L	probably damaging	Het
Ppil2	A	T	16: 17,103,600	Y73*	probably null	Het
Rngtt	A	G	4: 33,499,035	I531V	probably benign	Het
Sacs	A	G	14: 61,204,686	M1394V	probably benign	Het
Slc25a54	G	A	3: 109,098,668	R164H	probably benign	Het
Slc2a13	A	G	15: 91,350,020	V371A	possibly damaging	Het
Spag9	C	G	11: 94,097,253	L798V	possibly damaging	Het
Tbce	A	T	13: 13,998,395	S484T	possibly damaging	Het
Tcf12	C	T	9: 71,869,063	R399Q	probably damaging	Het
Ttn	A	G	2: 76,784,833	V16847A	probably benign	Het
Ttn	A	G	2: 76,856,866		probably benign	Het
Vmn1r11	T	G	6: 57,137,530	L23V	probably benign	Het
Vmn2r59	C	T	7: 42,042,450	C541Y	probably damaging	Het
Vmn2r82	A	C	10: 79,379,040	T286P	possibly damaging	Het
Vps13c	T	G	9: 67,982,495		probably null	Het
Wdr60	G	A	12: 116,207,715	A967V	probably damaging	Het
Zdhhc6	T	C	19: 55,302,737	I349V	probably benign	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
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
Z1177:Setd1b	UTSW	5	123158625	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGTCCACAACTCAGCGGTG -3'
(R):5'- TCAGGACTCCAGCCAAAGGTAG -3'

Sequencing Primer
(F):5'- ACAGCTCCTTTCCGAGGC -3'
(R):5'- CAGCCAAAGGTAGGCCGAC -3'

Posted On

2015-07-21