Mutagenetix > Incidental Mutation

Incidental Mutation 'R7486:Setd1b'

580157

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

MMRRC Submission

045560-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123280256-123306692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123301655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 45 (K45E)

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: K1890E

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: K1890E

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
AA Change: K45E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134353
Gene: ENSMUSG00000038384
AA Change: K45E

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

Predicted Effect

unknown
Transcript: ENSMUST00000163030
AA Change: K1890E

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: K1890E

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: K1849E

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: K1849E

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: 99.9%
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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,605,657 (GRCm39)	I702V	probably benign	Het
Adgre5	T	C	8: 84,450,515 (GRCm39)	E815G	probably damaging	Het
Adgrl2	A	G	3: 148,523,330 (GRCm39)	V298A		Het
Akp3	A	G	1: 87,053,201 (GRCm39)	D91G	probably damaging	Het
Ano8	A	G	8: 71,937,642 (GRCm39)		probably null	Het
Blvra	T	C	2: 126,929,243 (GRCm39)	S136P	unknown	Het
Cacul1	T	A	19: 60,568,868 (GRCm39)	M97L	probably benign	Het
Ccdc80	T	C	16: 44,946,542 (GRCm39)	V827A	probably damaging	Het
Cep68	T	C	11: 20,192,166 (GRCm39)	E11G	probably benign	Het
Cfap221	A	T	1: 119,851,322 (GRCm39)	V813E	possibly damaging	Het
Chd6	A	G	2: 160,791,923 (GRCm39)	V2478A	probably damaging	Het
Chmp6	T	C	11: 119,807,783 (GRCm39)	F148S	probably benign	Het
Clca3a2	T	A	3: 144,503,362 (GRCm39)	I863F	probably damaging	Het
Cnnm2	T	C	19: 46,750,513 (GRCm39)	V101A	possibly damaging	Het
Cpne8	A	T	15: 90,400,109 (GRCm39)		probably null	Het
Dmbt1	T	G	7: 130,668,192 (GRCm39)	C483G	unknown	Het
Dnah7b	G	A	1: 46,329,894 (GRCm39)	G3246D	probably damaging	Het
Dnajc3	C	A	14: 119,209,816 (GRCm39)	T297K	probably benign	Het
Dpm3	A	G	3: 89,174,034 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Erc1	G	A	6: 119,571,907 (GRCm39)	Q1022*	probably null	Het
Ercc5	T	A	1: 44,187,224 (GRCm39)	M1K	probably null	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fat4	C	A	3: 39,011,576 (GRCm39)	Y2225*	probably null	Het
Frk	G	A	10: 34,423,292 (GRCm39)	W123*	probably null	Het
Gm11568	T	A	11: 99,749,292 (GRCm39)	C166S	unknown	Het
Gpr153	A	G	4: 152,366,858 (GRCm39)	D337G	probably benign	Het
Gpt2	T	C	8: 86,252,235 (GRCm39)	F517L	probably damaging	Het
Gsg1	C	T	6: 135,214,427 (GRCm39)	E361K	probably benign	Het
Hsfy2	G	A	1: 56,676,130 (GRCm39)	R136*	probably null	Het
Insm1	G	A	2: 146,065,738 (GRCm39)	R518H	probably damaging	Het
Kank1	G	A	19: 25,388,193 (GRCm39)	C622Y	probably damaging	Het
Katnb1	T	A	8: 95,825,357 (GRCm39)	S640R	probably damaging	Het
Kcnmb4	A	G	10: 116,254,180 (GRCm39)	V199A	probably benign	Het
Lamb1	T	G	12: 31,337,441 (GRCm39)	S391A	probably benign	Het
Larp7-ps	A	T	4: 92,079,506 (GRCm39)	V105E	probably benign	Het
Macf1	T	G	4: 123,303,374 (GRCm39)	D376A	probably benign	Het
Map7d1	C	A	4: 126,128,179 (GRCm39)	R614L	unknown	Het
Mcm8	C	T	2: 132,681,440 (GRCm39)	R667W	probably damaging	Het
Med13l	C	T	5: 118,866,539 (GRCm39)	T531I	probably benign	Het
Mstn	G	T	1: 53,103,128 (GRCm39)	A155S	probably damaging	Het
Mycbp2	C	T	14: 103,434,690 (GRCm39)	R2251K	probably damaging	Het
Myo19	T	C	11: 84,796,463 (GRCm39)	S692P	probably benign	Het
Nipbl	A	T	15: 8,325,120 (GRCm39)	N2514K	probably benign	Het
Nkd2	T	A	13: 73,995,561 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,219 (GRCm39)	Y322F	probably damaging	Het
Nt5dc1	A	G	10: 34,275,805 (GRCm39)	Y135H	probably benign	Het
Oog3	T	A	4: 143,884,742 (GRCm39)	H398L	probably benign	Het
Or10g9	T	A	9: 39,912,181 (GRCm39)	Y114F	probably benign	Het
Or12j4	C	T	7: 140,045,947 (GRCm39)		probably benign	Het
Or1e29	T	C	11: 73,667,847 (GRCm39)	Y102C	probably damaging	Het
Otogl	A	G	10: 107,657,849 (GRCm39)	L1027P	probably damaging	Het
Pcdh20	T	A	14: 88,706,050 (GRCm39)	I417F	possibly damaging	Het
Pcdha12	T	A	18: 37,154,610 (GRCm39)	V443E	probably damaging	Het
Pcdhga2	A	G	18: 37,803,461 (GRCm39)	D435G	probably benign	Het
Pcnt	G	T	10: 76,254,270 (GRCm39)	T853K	probably benign	Het
Pcnt	T	C	10: 76,254,271 (GRCm39)	T853A	probably benign	Het
Pgghg	T	A	7: 140,522,393 (GRCm39)	S57R	probably benign	Het
Ppm1m	T	C	9: 106,073,810 (GRCm39)	D301G	probably damaging	Het
Ppp6r1	A	G	7: 4,642,899 (GRCm39)	V519A	probably benign	Het
Prss41	ACAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCA	17: 24,063,072 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,640,201 (GRCm39)		probably null	Het
Robo4	T	C	9: 37,316,870 (GRCm39)	V395A	probably damaging	Het
Scrib	A	G	15: 75,929,499 (GRCm39)	S1123P	probably damaging	Het
Slc14a1	T	C	18: 78,154,739 (GRCm39)	S216G	probably benign	Het
Slc25a45	A	G	19: 5,934,997 (GRCm39)	Y282C	probably damaging	Het
Slc6a5	T	C	7: 49,567,078 (GRCm39)	S255P	possibly damaging	Het
Smc2	A	T	4: 52,462,861 (GRCm39)	Q617L	possibly damaging	Het
Spo11	G	A	2: 172,825,870 (GRCm39)	D103N	probably benign	Het
Tcf20	A	T	15: 82,737,935 (GRCm39)	M1172K	possibly damaging	Het
Tesc	T	A	5: 118,184,382 (GRCm39)	S21T	probably benign	Het
Tie1	C	A	4: 118,337,101 (GRCm39)		probably null	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Trpm7	A	G	2: 126,673,115 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,965,259 (GRCm39)	D193G	possibly damaging	Het
Upk3a	A	T	15: 84,902,225 (GRCm39)		probably null	Het
Vmn2r25	T	C	6: 123,800,101 (GRCm39)	N747S	probably damaging	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		probably benign	Het
Zbtb2	G	A	10: 4,319,025 (GRCm39)	Q334*	probably null	Het
Zfp653	T	C	9: 21,967,824 (GRCm39)	N494D	probably damaging	Het
Zfp865	A	G	7: 5,034,259 (GRCm39)	D748G	possibly damaging	Het
Zzef1	T	C	11: 72,755,612 (GRCm39)	S1014P	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
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
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
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'- CTGTTTGCCATGGAGCCAATTG -3'
(R):5'- CACCTGTGGGTCAAATGAAGC -3'

Sequencing Primer
(F):5'- CCAATTGCTGCTGACGAGATG -3'
(R):5'- TGAACACGATTGCAGTGCCTG -3'

Posted On

2019-10-07