Incidental Mutation 'IGL02114:Myl12b'
ID 280280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myl12b
Ensembl Gene ENSMUSG00000034868
Gene Name myosin, light chain 12B, regulatory
Synonyms 1500001M02Rik, RLC-B, Mylc2b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # IGL02114
Quality Score
Status
Chromosome 17
Chromosomal Location 71280958-71297511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71284164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 21 (N21K)
Ref Sequence ENSEMBL: ENSMUSP00000042364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038446]
AlphaFold Q3THE2
Predicted Effect possibly damaging
Transcript: ENSMUST00000038446
AA Change: N21K

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000042364
Gene: ENSMUSG00000034868
AA Change: N21K

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
EFh 33 61 1.26e-7 SMART
EFh 102 130 1.25e0 SMART
Blast:EFh 138 166 6e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180743
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik C A 15: 33,405,844 (GRCm39) probably benign Het
Akap3 T C 6: 126,842,959 (GRCm39) V526A probably damaging Het
Ano6 C A 15: 95,841,341 (GRCm39) S479R probably damaging Het
Aqp8 C A 7: 123,063,419 (GRCm39) H90N probably damaging Het
Arih1 A T 9: 59,333,452 (GRCm39) C229S probably damaging Het
Col6a6 C A 9: 105,644,398 (GRCm39) probably null Het
Cp A G 3: 20,020,511 (GRCm39) E168G probably benign Het
Creb5 C T 6: 53,581,443 (GRCm39) probably benign Het
Cstdc3 T A 16: 36,131,617 (GRCm39) Y42* probably null Het
Cyp2c66 C A 19: 39,159,519 (GRCm39) probably benign Het
Dcpp2 C A 17: 24,119,609 (GRCm39) A141D possibly damaging Het
Dnah5 A G 15: 28,397,270 (GRCm39) D3321G probably damaging Het
Ecsit T C 9: 21,989,440 (GRCm39) probably benign Het
Gabra1 T C 11: 42,026,402 (GRCm39) I297V probably damaging Het
Gja8 T C 3: 96,827,341 (GRCm39) K107R probably benign Het
Gm16686 A T 4: 88,673,739 (GRCm39) L30Q probably null Het
Hbp1 T C 12: 31,980,674 (GRCm39) probably benign Het
Inhbc T C 10: 127,205,971 (GRCm39) I99V probably benign Het
Kcne3 T A 7: 99,833,697 (GRCm39) probably benign Het
Larp1 T C 11: 57,947,881 (GRCm39) Y926H probably damaging Het
Lhfpl5 G T 17: 28,795,149 (GRCm39) A59S possibly damaging Het
Mov10 T A 3: 104,702,634 (GRCm39) probably benign Het
Ncoa7 A T 10: 30,538,360 (GRCm39) V675E probably damaging Het
Nt5c1b T C 12: 10,425,444 (GRCm39) I255T probably damaging Het
Numa1 T A 7: 101,661,083 (GRCm39) probably benign Het
Or13c3 T A 4: 52,856,144 (GRCm39) Y123F probably damaging Het
Otop2 A T 11: 115,217,806 (GRCm39) D214V possibly damaging Het
Plec C A 15: 76,057,748 (GRCm39) G3928V probably damaging Het
Prkcz T C 4: 155,356,047 (GRCm39) E176G probably damaging Het
Qdpr G A 5: 45,592,018 (GRCm39) T106I possibly damaging Het
R3hdm2 T G 10: 127,319,978 (GRCm39) M481R probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Skic2 C T 17: 35,060,092 (GRCm39) V145M probably damaging Het
Slx4ip T A 2: 136,842,120 (GRCm39) V15D probably damaging Het
Stat4 T C 1: 52,142,024 (GRCm39) S624P probably damaging Het
Tecpr2 T A 12: 110,935,321 (GRCm39) L1380Q probably damaging Het
Traf2 T C 2: 25,415,004 (GRCm39) I286V possibly damaging Het
Vmn2r30 T C 7: 7,340,408 (GRCm39) I29V possibly damaging Het
Wdr43 A G 17: 71,959,843 (GRCm39) Q561R probably benign Het
Zfp607b T A 7: 27,403,150 (GRCm39) F535L probably benign Het
Other mutations in Myl12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3837:Myl12b UTSW 17 71,281,480 (GRCm39) nonsense probably null
R6904:Myl12b UTSW 17 71,284,135 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16