Mutagenetix > Incidental Mutation

Incidental Mutation 'R4399:Setd1b'

325630

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

MMRRC Submission

041686-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4399 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123280256-123306692 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 123299861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134353 (fasta)

Gene Model

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

AlphaFold

Q8CFT2

Predicted Effect

unknown
Transcript: ENSMUST00000056053
AA Change: R1759C

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: R1759C

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: R1759C

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: R1759C

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

unknown
Transcript: ENSMUST00000174836
AA Change: R1718C

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: R1718C

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

Meta Mutation Damage Score

0.1899

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (44/46)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,827,211 (GRCm39)	T1466A	possibly damaging	Het
Abcc6	T	C	7: 45,652,031 (GRCm39)	N612S	probably benign	Het
Aga	T	C	8: 53,964,861 (GRCm39)	S8P	probably benign	Het
Cep152	G	A	2: 125,429,900 (GRCm39)	A674V	possibly damaging	Het
Chd6	T	C	2: 160,807,238 (GRCm39)	H1992R	probably benign	Het
Cnga1	T	C	5: 72,761,724 (GRCm39)	K597E	probably damaging	Het
Col6a5	T	A	9: 105,766,164 (GRCm39)	M1919L	possibly damaging	Het
Cramp1	C	T	17: 25,198,559 (GRCm39)	V788I	probably damaging	Het
Dnah7a	T	C	1: 53,557,886 (GRCm39)	Y2176C	probably damaging	Het
Foxred2	A	C	15: 77,837,558 (GRCm39)	V226G	possibly damaging	Het
Foxred2	T	C	15: 77,839,880 (GRCm39)	I137V	probably benign	Het
G6pd2	T	A	5: 61,967,516 (GRCm39)	N430K	probably benign	Het
Gtf2h3	T	C	5: 124,740,126 (GRCm39)		probably benign	Het
Ibsp	T	A	5: 104,457,148 (GRCm39)	S86T	probably damaging	Het
Igkv6-25	T	A	6: 70,192,694 (GRCm39)	S34T	possibly damaging	Het
Mrc2	T	A	11: 105,227,484 (GRCm39)	Y572*	probably null	Het
Mup18	C	T	4: 61,590,866 (GRCm39)	G97D	probably damaging	Het
Or1j18	A	T	2: 36,625,242 (GRCm39)	N303I	probably benign	Het
Or1p1	A	G	11: 74,179,682 (GRCm39)	D70G	probably damaging	Het
Or2ag2	G	T	7: 106,485,660 (GRCm39)	D121E	probably damaging	Het
Or4k40	T	G	2: 111,251,144 (GRCm39)	I51L	probably benign	Het
Prkcz	A	T	4: 155,353,534 (GRCm39)	I454N	possibly damaging	Het
Prrg3	A	T	X: 71,010,915 (GRCm39)	S141C	probably damaging	Het
Ralgapa1	T	A	12: 55,842,563 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,777,189 (GRCm39)	S323T	probably benign	Het
Sbpl	A	G	17: 24,173,860 (GRCm39)	L8P	unknown	Het
Sh2d3c	G	A	2: 32,636,172 (GRCm39)	G332D	probably damaging	Het
Slc2a7	A	G	4: 150,243,007 (GRCm39)	E276G	probably damaging	Het
Slc35b3	A	G	13: 39,121,791 (GRCm39)	F73L	possibly damaging	Het
Sstr3	T	G	15: 78,424,324 (GRCm39)	D141A	probably damaging	Het
St8sia5	T	C	18: 77,340,714 (GRCm39)	C191R	probably damaging	Het
Sult1c2	T	C	17: 54,269,538 (GRCm39)	N230S	probably benign	Het
Thrap3	A	G	4: 126,060,872 (GRCm39)		probably benign	Het
Tma16	C	T	8: 66,936,823 (GRCm39)		probably null	Het
Tmem151a	A	G	19: 5,133,099 (GRCm39)	S36P	probably damaging	Het
Vmn1r67	A	G	7: 10,181,476 (GRCm39)	T247A	possibly damaging	Het
Vmn2r50	A	G	7: 9,781,834 (GRCm39)	S304P	possibly damaging	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Vmn2r72	T	C	7: 85,387,708 (GRCm39)	N619D	probably damaging	Het
Xab2	C	A	8: 3,664,244 (GRCm39)		probably null	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
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
R6247:Setd1b	UTSW	5	123,296,461 (GRCm39)	intron	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'- AGATCATCAGAACTGGCCGG -3'
(R):5'- TTACAGGCCAGAAGGATGCTG -3'

Sequencing Primer
(F):5'- CCGGGTGGCATGGAGGTG -3'
(R):5'- CCAGAAGGATGCTGTCTGAGC -3'

Posted On

2015-07-06