Incidental Mutation 'R4577:Setd1b'
ID 342542
Institutional Source Beutler Lab
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 # R4577 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 123142193-123168629 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123148616 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 575 (E575G)
Ref Sequence ENSEMBL: ENSMUSP00000134461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056053] [ENSMUST00000163030] [ENSMUST00000174836]
AlphaFold Q8CFT2
Predicted Effect unknown
Transcript: ENSMUST00000056053
AA Change: E575G
SMART Domains Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: E575G

DomainStartEndE-ValueType
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: ENSMUST00000100731
Predicted Effect unknown
Transcript: ENSMUST00000163030
AA Change: E575G
SMART Domains Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: E575G

DomainStartEndE-ValueType
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: E575G
SMART Domains Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: E575G

DomainStartEndE-ValueType
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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik A G 7: 139,978,130 I51T probably damaging Het
Abca1 C A 4: 53,062,568 C1429F possibly damaging Het
Acacb A G 5: 114,226,831 E1524G probably damaging Het
Ankrd50 A G 3: 38,455,941 V759A probably damaging Het
Ano9 T C 7: 141,104,138 Q538R probably damaging Het
Bnip2 A G 9: 69,997,162 D67G probably benign Het
Cacna1e A T 1: 154,402,027 S2060T possibly damaging Het
Cand2 G A 6: 115,791,259 C455Y probably damaging Het
Cdh16 T C 8: 104,618,559 D366G probably damaging Het
Cep170b A G 12: 112,744,718 R595G probably damaging Het
Chaf1a G A 17: 56,065,184 R784Q probably damaging Het
Clca4a C A 3: 144,954,969 S698I probably damaging Het
Dnah5 A C 15: 28,289,250 Y1195S probably benign Het
Dysf T C 6: 84,137,326 I1229T probably damaging Het
Eef2 GCCC GCCCC 10: 81,178,767 probably null Het
Ep300 T A 15: 81,611,410 probably benign Het
Ep300 T C 15: 81,649,009 S1756P unknown Het
F3 A G 3: 121,734,114 I254V probably benign Het
Fam166a T C 2: 25,220,288 S71P probably benign Het
Frmd4a C A 2: 4,603,679 A786E possibly damaging Het
Fsd1l T C 4: 53,686,397 F270S probably damaging Het
Galnt3 T C 2: 66,097,859 Y231C probably benign Het
Gm10220 A C 5: 26,117,871 I181S probably benign Het
Gm13178 A C 4: 144,703,753 I222S probably damaging Het
Gnb5 G A 9: 75,343,541 V316I possibly damaging Het
Gys2 A G 6: 142,454,510 F325S possibly damaging Het
Hmgn2 G A 4: 133,967,357 probably benign Het
Hsph1 A G 5: 149,618,843 V705A probably benign Het
Ighg2b T C 12: 113,306,892 E206G unknown Het
Iqub A T 6: 24,501,291 I220N probably damaging Het
Jmjd1c A G 10: 67,249,750 T2259A probably damaging Het
Kcnq3 T C 15: 66,286,214 K4R unknown Het
Klk12 A G 7: 43,773,243 D198G probably damaging Het
L3mbtl2 G A 15: 81,686,285 E655K probably benign Het
Lrp1b C T 2: 40,821,719 C3163Y probably damaging Het
Map3k19 T A 1: 127,822,813 R934* probably null Het
Map4 A G 9: 110,081,421 T1061A possibly damaging Het
Mbnl1 G A 3: 60,529,778 V50I probably damaging Het
Med15 G A 16: 17,674,515 Q132* probably null Het
Mef2a T C 7: 67,240,439 N131S probably benign Het
Mtmr3 G C 11: 4,497,375 L361V probably damaging Het
Myo5a A G 9: 75,217,545 E1792G probably damaging Het
Nup88 C A 11: 70,969,717 A55S probably damaging Het
Olfr1252 T C 2: 89,722,043 K23E possibly damaging Het
Olfr374 T A 8: 72,110,323 Y252* probably null Het
Pacs1 G T 19: 5,143,833 S556* probably null Het
Parp4 A G 14: 56,590,410 E206G probably benign Het
Paxbp1 T G 16: 91,015,154 K889N probably damaging Het
Pcdhga2 G A 18: 37,669,249 A49T possibly damaging Het
Pcsk6 T A 7: 65,959,266 L292* probably null Het
Plb1 C T 5: 32,247,557 Q20* probably null Het
Plec C A 15: 76,184,069 Q1142H possibly damaging Het
Pnpla2 T C 7: 141,457,344 S87P probably damaging Het
Prss28 T C 17: 25,310,105 V140A probably damaging Het
Rad17 A T 13: 100,633,278 S258T probably damaging Het
Rnf111 A T 9: 70,429,584 C932* probably null Het
Sdc2 T C 15: 33,017,132 Y31H probably damaging Het
Selenoh T C 2: 84,670,331 E55G possibly damaging Het
Serpina3k T G 12: 104,344,192 V327G possibly damaging Het
Slco1a4 A T 6: 141,819,540 S325R probably damaging Het
Smtnl1 C A 2: 84,818,443 V156L possibly damaging Het
Speg A G 1: 75,415,395 D1607G probably damaging Het
Tctex1d4 A G 4: 117,128,615 T212A possibly damaging Het
Tmem101 T A 11: 102,155,837 M69L possibly damaging Het
Treh G A 9: 44,685,911 M542I probably benign Het
Trim30b T C 7: 104,357,331 Y106C possibly damaging Het
Ttc6 T C 12: 57,576,655 I280T probably benign Het
Ubtfl1 A G 9: 18,409,493 T106A probably damaging Het
Wdr27 T C 17: 14,903,462 H583R probably benign Het
Xirp2 C T 2: 67,513,897 P2161S probably damaging Het
Other mutations in Setd1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Setd1b APN 5 123,158,747 (GRCm38) unclassified probably benign
IGL01453:Setd1b APN 5 123,158,464 (GRCm38) intron probably benign
IGL01637:Setd1b APN 5 123,148,513 (GRCm38) missense unknown
IGL01792:Setd1b APN 5 123,157,146 (GRCm38) missense unknown
IGL01877:Setd1b APN 5 123,148,448 (GRCm38) missense unknown
IGL01906:Setd1b APN 5 123,157,667 (GRCm38) missense unknown
IGL01942:Setd1b APN 5 123,163,426 (GRCm38) missense possibly damaging 0.73
IGL02284:Setd1b APN 5 123,163,428 (GRCm38) missense possibly damaging 0.52
IGL02667:Setd1b APN 5 123,157,497 (GRCm38) missense unknown
IGL02850:Setd1b APN 5 123,148,589 (GRCm38) missense unknown
IGL02864:Setd1b APN 5 123,158,939 (GRCm38) unclassified probably benign
IGL03006:Setd1b APN 5 123,148,451 (GRCm38) missense unknown
IGL03307:Setd1b APN 5 123,148,671 (GRCm38) missense unknown
P0037:Setd1b UTSW 5 123,165,921 (GRCm38) unclassified probably benign
R0282:Setd1b UTSW 5 123,161,017 (GRCm38) unclassified probably benign
R0375:Setd1b UTSW 5 123,157,437 (GRCm38) missense unknown
R0550:Setd1b UTSW 5 123,157,660 (GRCm38) missense unknown
R0607:Setd1b UTSW 5 123,159,951 (GRCm38) unclassified probably benign
R0844:Setd1b UTSW 5 123,160,685 (GRCm38) unclassified probably benign
R0973:Setd1b UTSW 5 123,160,703 (GRCm38) small insertion probably benign
R1119:Setd1b UTSW 5 123,147,716 (GRCm38) missense unknown
R1266:Setd1b UTSW 5 123,147,841 (GRCm38) missense unknown
R1370:Setd1b UTSW 5 123,160,685 (GRCm38) unclassified probably benign
R1416:Setd1b UTSW 5 123,160,685 (GRCm38) unclassified probably benign
R1575:Setd1b UTSW 5 123,163,147 (GRCm38) splice site probably benign
R1862:Setd1b UTSW 5 123,147,613 (GRCm38) missense unknown
R1987:Setd1b UTSW 5 123,147,706 (GRCm38) missense unknown
R4109:Setd1b UTSW 5 123,152,074 (GRCm38) small deletion probably benign
R4399:Setd1b UTSW 5 123,161,798 (GRCm38) unclassified probably benign
R4445:Setd1b UTSW 5 123,148,104 (GRCm38) missense unknown
R4604:Setd1b UTSW 5 123,152,074 (GRCm38) small deletion probably benign
R4647:Setd1b UTSW 5 123,148,112 (GRCm38) missense unknown
R4648:Setd1b UTSW 5 123,148,112 (GRCm38) missense unknown
R4675:Setd1b UTSW 5 123,160,998 (GRCm38) unclassified probably benign
R5044:Setd1b UTSW 5 123,151,866 (GRCm38) missense unknown
R5071:Setd1b UTSW 5 123,160,914 (GRCm38) unclassified probably benign
R5220:Setd1b UTSW 5 123,143,408 (GRCm38) missense unknown
R5933:Setd1b UTSW 5 123,158,752 (GRCm38) unclassified probably benign
R6247:Setd1b UTSW 5 123,158,398 (GRCm38) intron probably benign
R6446:Setd1b UTSW 5 123,161,799 (GRCm38) unclassified probably benign
R6714:Setd1b UTSW 5 123,157,591 (GRCm38) missense unknown
R6907:Setd1b UTSW 5 123,163,232 (GRCm38) unclassified probably benign
R7328:Setd1b UTSW 5 123,152,379 (GRCm38) missense unknown
R7412:Setd1b UTSW 5 123,152,576 (GRCm38) missense unknown
R7486:Setd1b UTSW 5 123,163,592 (GRCm38) missense probably benign 0.03
R7542:Setd1b UTSW 5 123,148,447 (GRCm38) missense unknown
R7555:Setd1b UTSW 5 123,157,757 (GRCm38) missense unknown
R7611:Setd1b UTSW 5 123,152,594 (GRCm38) missense unknown
R7764:Setd1b UTSW 5 123,146,559 (GRCm38) missense unknown
R7770:Setd1b UTSW 5 123,158,752 (GRCm38) unclassified probably benign
R7881:Setd1b UTSW 5 123,152,273 (GRCm38) missense unknown
R7977:Setd1b UTSW 5 123,147,680 (GRCm38) missense unknown
R7987:Setd1b UTSW 5 123,147,680 (GRCm38) missense unknown
R8131:Setd1b UTSW 5 123,143,380 (GRCm38) missense unknown
R8386:Setd1b UTSW 5 123,144,256 (GRCm38) missense unknown
R8845:Setd1b UTSW 5 123,144,247 (GRCm38) missense unknown
R8901:Setd1b UTSW 5 123,161,051 (GRCm38) unclassified probably benign
R9224:Setd1b UTSW 5 123,158,710 (GRCm38) missense unknown
R9438:Setd1b UTSW 5 123,147,881 (GRCm38) missense unknown
R9643:Setd1b UTSW 5 123,160,338 (GRCm38) missense probably damaging 1.00
R9664:Setd1b UTSW 5 123,159,983 (GRCm38) missense unknown
Z1177:Setd1b UTSW 5 123,158,625 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- GACTCAGACACCGAGATACAGATG -3'
(R):5'- TGCTCCCGCATCTTAGCTAG -3'

Sequencing Primer
(F):5'- TACAGATGGAAGGCAGCCCC -3'
(R):5'- GCTCCCGCATCTTAGCTAGTAAAATG -3'
Posted On 2015-09-24