Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01942:Setd1b'

180872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01942

Quality Score

Status

Chromosome

Chromosomal Location

123280256-123306692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123301489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 16 (F16I)

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: F1861I

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: F1861I

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

possibly damaging
Transcript: ENSMUST00000162839
AA Change: F16I

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134353
Gene: ENSMUSG00000038384
AA Change: F16I

Domain	Start	End	E-Value	Type
SET	1	86	7.26e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000163030
AA Change: F1861I

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: F1861I

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: F1820I

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: F1820I

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 45,635,997 (GRCm39)	R1017W	possibly damaging	Het
Arhgef26	A	G	3: 62,247,515 (GRCm39)	R200G	probably benign	Het
Arid4b	A	T	13: 14,310,749 (GRCm39)		probably benign	Het
Atp1a2	A	C	1: 172,113,876 (GRCm39)	S369A	probably benign	Het
Bag3	T	A	7: 128,148,024 (GRCm39)	D546E	probably benign	Het
Bcl6b	T	A	11: 70,117,569 (GRCm39)	Y379F	probably damaging	Het
Cbln2	T	C	18: 86,734,450 (GRCm39)	V136A	probably benign	Het
Ccnf	A	T	17: 24,461,294 (GRCm39)	D120E	probably benign	Het
Cd14	T	A	18: 36,858,693 (GRCm39)	H254L	possibly damaging	Het
Chd3	A	G	11: 69,240,931 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,224,692 (GRCm39)	R150H	probably benign	Het
Dhx35	T	C	2: 158,673,784 (GRCm39)	L405P	probably damaging	Het
Dpf1	G	A	7: 29,015,927 (GRCm39)	C383Y	probably damaging	Het
Dse	T	A	10: 34,031,989 (GRCm39)	Q345L	probably benign	Het
Gnaz	A	G	10: 74,850,706 (GRCm39)	M244V	probably damaging	Het
Gpr65	A	T	12: 98,241,974 (GRCm39)	Y209F	possibly damaging	Het
Inpp5f	T	C	7: 128,269,493 (GRCm39)	I281T	probably damaging	Het
Kntc1	T	C	5: 123,916,330 (GRCm39)	F721S	probably damaging	Het
Mapk8ip2	G	A	15: 89,341,220 (GRCm39)		probably null	Het
Med24	G	A	11: 98,600,508 (GRCm39)	R646W	probably damaging	Het
Nup98	A	T	7: 101,843,918 (GRCm39)	F102Y	probably damaging	Het
Or1n2	A	G	2: 36,797,869 (GRCm39)	M304V	probably benign	Het
Or4c35	G	T	2: 89,808,322 (GRCm39)	V67L	probably benign	Het
Or8g50	A	T	9: 39,648,962 (GRCm39)	M284L	possibly damaging	Het
Pgap3	T	C	11: 98,288,780 (GRCm39)	Y125C	probably damaging	Het
Rasl12	T	C	9: 65,315,644 (GRCm39)	V96A	probably damaging	Het
Rbm20	G	A	19: 53,801,874 (GRCm39)	M127I	probably damaging	Het
Rnf114	T	A	2: 167,354,546 (GRCm39)		probably null	Het
Serpinb1b	C	T	13: 33,269,294 (GRCm39)	T9I	possibly damaging	Het
Slc25a28	A	G	19: 43,652,947 (GRCm39)	F238S	probably damaging	Het
Slc2a2	T	C	3: 28,759,952 (GRCm39)	V30A	probably damaging	Het
Slc35f4	T	C	14: 49,762,962 (GRCm39)		probably benign	Het
Socs4	T	A	14: 47,528,107 (GRCm39)	C347*	probably null	Het
Spock1	C	T	13: 57,578,141 (GRCm39)	E367K	probably damaging	Het
Ubap2	C	T	4: 41,251,608 (GRCm39)	R8H	probably benign	Het
Vmn1r44	T	A	6: 89,870,806 (GRCm39)	M41K	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp575	T	C	7: 24,285,240 (GRCm39)	T134A	possibly damaging	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
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
R4399:Setd1b	UTSW	5	123,299,861 (GRCm39)	unclassified	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

Posted On

2014-05-07