Mutagenetix > Incidental Mutation

Incidental Mutation 'R7611:Setd1b'

588590

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123142193-123168629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123152594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 875 (M875L)

Ref Sequence

ENSEMBL: ENSMUSP00000134686 (fasta)

Gene Model

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

AlphaFold

Q8CFT2

Predicted Effect

unknown
Transcript: ENSMUST00000056053
AA Change: M875L

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: M875L

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: M875L

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: M875L

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: M875L

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: M875L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	G	8: 45,970,451	Y75H	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy8	C	T	15: 64,921,033	G25S	probably benign	Het
Ahnak2	G	T	12: 112,788,129	D35E		Het
Birc6	T	C	17: 74,662,718	M4261T	probably damaging	Het
Caln1	T	G	5: 130,506,077	F45V	probably damaging	Het
Camta2	A	T	11: 70,681,546	I313N	possibly damaging	Het
Capns1	T	A	7: 30,190,114	E220V	probably damaging	Het
Carmil1	C	A	13: 24,013,332	V1374L	probably benign	Het
Casp2	T	G	6: 42,274,038	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,310,743	V19L	probably benign	Het
Ces1c	T	C	8: 93,124,511	N162D	probably benign	Het
Chd9	T	C	8: 91,036,389	S2281P	probably damaging	Het
Chst13	T	C	6: 90,309,017	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,285,680	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,921,996	T405S	probably benign	Het
Cmah	T	C	13: 24,435,647	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,860,381	M396K	probably benign	Het
Ddr2	A	T	1: 169,998,158	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,402,353	I145N	probably benign	Het
Ddx58	T	C	4: 40,225,651	E250G	probably damaging	Het
Ephb2	T	A	4: 136,660,901		probably null	Het
Fgfr1	A	T	8: 25,558,205	K106*	probably null	Het
Gpr6	A	G	10: 41,070,879	F236L	probably benign	Het
Grin2c	A	G	11: 115,252,685	S750P	probably damaging	Het
Hecw2	A	G	1: 53,913,300	S925P	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Hmg20b	T	A	10: 81,349,598		probably benign	Het
Kcnk10	T	A	12: 98,518,640	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,632,429	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,200,571	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,395,518	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,615,107	A84T	probably benign	Het
Mmp19	A	G	10: 128,798,988	D491G	probably benign	Het
Mug1	A	T	6: 121,875,428		probably null	Het
Myh1	A	T	11: 67,210,417	H673L	possibly damaging	Het
Nlrc5	T	C	8: 94,512,648		probably null	Het
Nme9	T	A	9: 99,470,790	S264R	probably benign	Het
Nup153	T	C	13: 46,687,322	T937A	probably benign	Het
Obsl1	T	C	1: 75,505,380	E282G	probably damaging	Het
Olfr1030	T	A	2: 85,984,063	C74*	probably null	Het
Olfr1076	T	A	2: 86,509,053	I198K	possibly damaging	Het
Olfr1364	A	G	13: 21,574,318	V46A	probably benign	Het
Olfr1436	T	A	19: 12,298,878	M85L	probably damaging	Het
Olfr1451	T	A	19: 12,999,067	I27N	possibly damaging	Het
Olfr724	C	A	14: 49,960,911	A54S	probably benign	Het
Olfr98	A	G	17: 37,262,854	V270A	probably benign	Het
Pcdhga12	T	C	18: 37,768,425	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,605,083		probably null	Het
Prr29	C	G	11: 106,376,332	H58D	probably damaging	Het
Ptprz1	T	A	6: 23,001,220	M1103K	probably benign	Het
Rsph4a	C	T	10: 33,905,477	P108S	probably benign	Het
Slc15a2	A	G	16: 36,756,311	S485P	probably benign	Het
Smoc1	A	G	12: 81,179,670	D423G	probably damaging	Het
Spast	T	A	17: 74,369,203	V337D	probably damaging	Het
Spesp1	T	C	9: 62,272,705	K307R	possibly damaging	Het
Sulf1	A	G	1: 12,836,243	E503G	probably benign	Het
Susd6	T	C	12: 80,874,567	Y313H	probably damaging	Het
Them4	A	T	3: 94,331,558	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Tspear	A	T	10: 77,881,215	T575S	probably benign	Het
Usp21	A	T	1: 171,285,569	H211Q	probably benign	Het
Vmn1r189	T	C	13: 22,102,152	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,296,970	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,481,256	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,565,142	V53F	probably damaging	Het
Vmn2r76	A	G	7: 86,230,180	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,413,997	Y256S		Het
Zfhx4	A	T	3: 5,403,771	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,911,788	H224R	probably damaging	Het
Zfp865	A	G	7: 5,031,131	E705G	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
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
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'- CCATTCTCCCTGAGCAACAG -3'
(R):5'- GGCACTTCTTAAAGTTGTCTCAGG -3'

Sequencing Primer
(F):5'- TGAGCAACAGTGGCCCAG -3'
(R):5'- AAAGTTGTCTCAGGCTGGC -3'

Posted On

2019-10-24