Mutagenetix > Incidental Mutation

Incidental Mutation 'R8845:Setd1b'

674646

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

MMRRC Submission

068734-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8845 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123280256-123306692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123282310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 146 (A146V)

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: A146V

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: A146V

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: A146V

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: A146V

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: A146V

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: A146V

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: 99.6%
20x: 98.7%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,846,428 (GRCm39)	P627S	probably benign	Het
Abca4	G	A	3: 121,930,651 (GRCm39)	V1383M	probably damaging	Het
Acer3	A	G	7: 97,910,832 (GRCm39)	S77P	probably damaging	Het
Adgrv1	G	T	13: 81,629,478 (GRCm39)	T3640N	possibly damaging	Het
Agmo	T	C	12: 37,294,364 (GRCm39)	L104P	probably benign	Het
Alox12	C	A	11: 70,137,877 (GRCm39)	G421V	probably damaging	Het
Atad2	A	G	15: 57,989,532 (GRCm39)	V182A	probably damaging	Het
Bnc2	C	T	4: 84,194,338 (GRCm39)	A929T	possibly damaging	Het
Bola3	T	C	6: 83,335,154 (GRCm39)	M83T	probably damaging	Het
Brca2	T	C	5: 150,466,847 (GRCm39)	F2204L	possibly damaging	Het
Cachd1	T	C	4: 100,810,343 (GRCm39)	V315A	probably benign	Het
Ccdc154	C	A	17: 25,390,138 (GRCm39)	N547K	probably damaging	Het
Ccdc62	C	A	5: 124,092,470 (GRCm39)	T485K	probably benign	Het
Cdc40	G	A	10: 40,717,790 (GRCm39)	T371I	possibly damaging	Het
Cep112	T	C	11: 108,461,193 (GRCm39)	F657L	probably damaging	Het
Cirbp	A	G	10: 80,005,931 (GRCm39)	D62G	probably damaging	Het
Cntf	A	C	19: 12,741,664 (GRCm39)	S65R	probably benign	Het
Cxxc4	CGGC	CGGCGGGGGC	3: 133,945,912 (GRCm39)		probably benign	Het
Cyfip1	G	T	7: 55,579,834 (GRCm39)	G1229V	probably benign	Het
Cyp4a30b	A	C	4: 115,315,493 (GRCm39)	N238T	probably benign	Het
Dbx2	G	A	15: 95,552,517 (GRCm39)	R43C	probably benign	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Fbxw13	G	T	9: 109,023,833 (GRCm39)	F70L	possibly damaging	Het
Fhod3	A	G	18: 25,265,976 (GRCm39)	T1555A	probably damaging	Het
Fnbp4	A	G	2: 90,606,368 (GRCm39)	M763V	probably benign	Het
Gdf7	A	G	12: 8,348,905 (GRCm39)	S131P	unknown	Het
Gm9938	A	T	19: 23,701,941 (GRCm39)	E93V	unknown	Het
Golim4	A	T	3: 75,802,272 (GRCm39)	M340K	probably damaging	Het
Gphn	A	G	12: 78,538,953 (GRCm39)	S200G	probably benign	Het
Hpse	T	C	5: 100,859,248 (GRCm39)	D99G	probably benign	Het
Iqgap2	A	T	13: 95,794,392 (GRCm39)	N1193K	possibly damaging	Het
Jag2	A	T	12: 112,883,714 (GRCm39)	C256S	probably damaging	Het
Ldb3	T	C	14: 34,258,634 (GRCm39)	Y657C	probably damaging	Het
Lmtk2	T	A	5: 144,110,704 (GRCm39)	Y475N	probably damaging	Het
Mep1b	A	T	18: 21,230,379 (GRCm39)	K644*	probably null	Het
Muc4	A	C	16: 32,576,889 (GRCm39)	T60P	possibly damaging	Het
Nckap5	G	T	1: 125,909,423 (GRCm39)	Q1603K	possibly damaging	Het
Npy6r	C	T	18: 44,408,606 (GRCm39)	T9I	probably benign	Het
Nsd2	T	C	5: 34,039,885 (GRCm39)	C846R	probably damaging	Het
Oard1	A	C	17: 48,721,259 (GRCm39)	K64Q	probably benign	Het
Or4c103	T	A	2: 88,513,735 (GRCm39)	I114F	possibly damaging	Het
Or52e19b	A	T	7: 103,032,357 (GRCm39)	V284D	probably damaging	Het
Or5w8	G	T	2: 87,687,545 (GRCm39)	V9L	probably benign	Het
Or6c208	A	G	10: 129,224,065 (GRCm39)	T188A	probably damaging	Het
Pkhd1l1	T	G	15: 44,368,650 (GRCm39)	S823A	probably benign	Het
Pla2r1	A	G	2: 60,259,053 (GRCm39)	S1112P	possibly damaging	Het
Plekho2	T	C	9: 65,465,963 (GRCm39)	T142A	probably damaging	Het
Prr35	A	T	17: 26,165,823 (GRCm39)	V488E	probably benign	Het
Prrc2b	T	A	2: 32,102,105 (GRCm39)	M726K	possibly damaging	Het
Prrc2b	A	T	2: 32,106,162 (GRCm39)	K1514I	possibly damaging	Het
Rin1	A	T	19: 5,104,947 (GRCm39)	D669V	probably damaging	Het
Sigmar1	G	A	4: 41,741,234 (GRCm39)	R7W	probably damaging	Het
Slain1	C	T	14: 103,925,747 (GRCm39)	T365I	possibly damaging	Het
Slc38a2	G	A	15: 96,592,900 (GRCm39)	T186I	probably benign	Het
Tas2r130	A	T	6: 131,607,642 (GRCm39)	V51E	probably benign	Het
Tgfb1i1	A	T	7: 127,851,690 (GRCm39)	H332L	possibly damaging	Het
Trav7n-4	T	C	14: 53,328,846 (GRCm39)	L15S	probably damaging	Het
Ttc28	T	C	5: 111,372,041 (GRCm39)	V861A	probably benign	Het
Ttn	A	G	2: 76,632,658 (GRCm39)	I14132T	probably damaging	Het
Ttn	T	C	2: 76,606,380 (GRCm39)	E18143G	probably damaging	Het
Vmn1r203	C	T	13: 22,708,720 (GRCm39)	S167L	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,361 (GRCm39)	H387Q	probably benign	Het
Vps33a	A	T	5: 123,709,538 (GRCm39)		probably null	Het
Vps50	G	A	6: 3,504,926 (GRCm39)	V31I	probably benign	Het
Wdcp	A	G	12: 4,901,439 (GRCm39)	T432A	probably benign	Het
Wdr36	T	A	18: 32,994,098 (GRCm39)	Y645*	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
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
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'- AGATCGATGAGTTCTACGTGGG -3'
(R):5'- TTGGCTCCATGTGACTCTGC -3'

Sequencing Primer
(F):5'- AGTTCTACGTGGGCCCTG -3'
(R):5'- TTTCCAAGATGAGGGTGAGACTGAC -3'

Posted On

2021-07-15