Incidental Mutation 'IGL02136:Myl12a'
ID281317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myl12a
Ensembl Gene ENSMUSG00000024048
Gene Namemyosin, light chain 12A, regulatory, non-sarcomeric
Synonyms2900073G15Rik, brain specific myosin regulatory light chain, NMDA receptor-interacting protein
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.343) question?
Stock #IGL02136
Quality Score
Status
Chromosome17
Chromosomal Location70993656-71002878 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 70996856 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 9 (K9*)
Ref Sequence ENSEMBL: ENSMUSP00000114712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024846] [ENSMUST00000123686] [ENSMUST00000128179] [ENSMUST00000148960] [ENSMUST00000150456]
Predicted Effect probably null
Transcript: ENSMUST00000024846
AA Change: K9*
SMART Domains Protein: ENSMUSP00000024846
Gene: ENSMUSG00000024048
AA Change: K9*

DomainStartEndE-ValueType
low complexity region 7 13 N/A INTRINSIC
EFh 33 61 2.52e-7 SMART
EFh 102 130 6.95e0 SMART
Blast:EFh 138 166 6e-12 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000123686
AA Change: K9*
SMART Domains Protein: ENSMUSP00000116398
Gene: ENSMUSG00000024048
AA Change: K9*

DomainStartEndE-ValueType
low complexity region 7 13 N/A INTRINSIC
EFh 33 61 2.52e-7 SMART
EFh 102 130 6.95e0 SMART
Blast:EFh 138 166 6e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126529
Predicted Effect probably null
Transcript: ENSMUST00000128179
AA Change: K9*
SMART Domains Protein: ENSMUSP00000119491
Gene: ENSMUSG00000024048
AA Change: K9*

DomainStartEndE-ValueType
low complexity region 7 13 N/A INTRINSIC
Pfam:EF-hand_1 33 58 7.7e-9 PFAM
Pfam:EF-hand_6 33 58 7.4e-9 PFAM
Pfam:EF-hand_5 34 58 1.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129093
Predicted Effect probably null
Transcript: ENSMUST00000148960
AA Change: K9*
SMART Domains Protein: ENSMUSP00000123412
Gene: ENSMUSG00000024048
AA Change: K9*

DomainStartEndE-ValueType
low complexity region 7 13 N/A INTRINSIC
EFh 33 61 2.52e-7 SMART
EFh 102 130 6.95e0 SMART
Blast:EFh 138 166 6e-12 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000150456
AA Change: K9*
SMART Domains Protein: ENSMUSP00000114712
Gene: ENSMUSG00000024048
AA Change: K9*

DomainStartEndE-ValueType
Pfam:EF-hand_7 13 78 1.2e-8 PFAM
Pfam:EF-hand_1 33 61 1.7e-9 PFAM
Pfam:EF-hand_6 33 62 1.8e-9 PFAM
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.] The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,247,142 T2511K probably damaging Het
Acta2 T A 19: 34,251,830 D53V probably damaging Het
Banf1 G A 19: 5,365,070 A71V probably benign Het
Cacng5 A T 11: 107,881,731 I97N probably benign Het
Clec14a T A 12: 58,268,629 E69V probably damaging Het
Cracr2a T C 6: 127,629,930 probably benign Het
Dysf A G 6: 84,108,167 R845G probably benign Het
Dzip3 T C 16: 48,927,582 N949S possibly damaging Het
Eprs T G 1: 185,384,983 W408G probably damaging Het
Fgf14 G A 14: 123,980,372 P240S possibly damaging Het
Fpgt G T 3: 155,093,352 A2E probably benign Het
Galntl5 T A 5: 25,220,062 S392R probably benign Het
Gatd1 A G 7: 141,408,960 *221Q probably null Het
Gcsam T A 16: 45,610,533 M1K probably null Het
Ksr2 A G 5: 117,616,894 N351S possibly damaging Het
Map1a T C 2: 121,300,212 V503A probably damaging Het
Ncapg2 A T 12: 116,460,583 M1129L probably benign Het
Olfr228 T C 2: 86,483,465 I92M probably damaging Het
Olfr744 T C 14: 50,618,251 S10P possibly damaging Het
Otof T C 5: 30,373,992 K1691E possibly damaging Het
Pdk4 A T 6: 5,486,715 M353K probably damaging Het
Pkhd1 A T 1: 20,275,615 W2730R probably damaging Het
Pkn2 T A 3: 142,853,590 K58I probably damaging Het
Plk5 T C 10: 80,363,167 probably null Het
Prkcq T C 2: 11,260,668 F399L probably benign Het
Ptprz1 G A 6: 22,972,822 V244M probably damaging Het
Rpusd2 T C 2: 119,038,178 F361L probably damaging Het
Rttn T A 18: 89,046,128 L1168I possibly damaging Het
S100a9 T C 3: 90,692,768 H107R probably benign Het
Serpinb3a T A 1: 107,046,285 M299L probably benign Het
Slfn8 G A 11: 83,003,465 Q783* probably null Het
Smc3 T C 19: 53,635,716 I721T probably benign Het
Top2b C A 14: 16,407,103 probably benign Het
Uvssa T A 5: 33,391,848 W351R probably damaging Het
Vmn2r107 G T 17: 20,374,906 V574L probably benign Het
Wdr3 G A 3: 100,138,725 R931* probably null Het
Other mutations in Myl12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01670:Myl12a APN 17 70996853 missense probably benign 0.00
IGL01949:Myl12a APN 17 70996714 missense probably benign 0.18
R3405:Myl12a UTSW 17 70994742 missense probably benign 0.00
R3406:Myl12a UTSW 17 70994742 missense probably benign 0.00
R3777:Myl12a UTSW 17 70994636 missense possibly damaging 0.93
R3779:Myl12a UTSW 17 70994636 missense possibly damaging 0.93
R4757:Myl12a UTSW 17 70996803 missense possibly damaging 0.86
R4798:Myl12a UTSW 17 70996302 intron probably benign
R5086:Myl12a UTSW 17 70994616 missense possibly damaging 0.70
R5419:Myl12a UTSW 17 70994699 missense probably benign 0.03
R7838:Myl12a UTSW 17 70996171 missense probably benign 0.02
R7921:Myl12a UTSW 17 70996171 missense probably benign 0.02
Posted On2015-04-16