Incidental Mutation 'R3406:Myl12a'
ID259408
Institutional Source Beutler Lab
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
MMRRC Submission 040624-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.517) question?
Stock #R3406 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location70993656-71002878 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 70994742 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 130 (M130K)
Ref Sequence ENSEMBL: ENSMUSP00000123412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024846] [ENSMUST00000038446] [ENSMUST00000123686] [ENSMUST00000128179] [ENSMUST00000148960] [ENSMUST00000150456]
Predicted Effect probably benign
Transcript: ENSMUST00000024846
AA Change: M130K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000024846
Gene: ENSMUSG00000024048
AA Change: M130K

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 benign
Transcript: ENSMUST00000038446
SMART Domains Protein: ENSMUSP00000042364
Gene: ENSMUSG00000034868

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 probably benign
Transcript: ENSMUST00000123686
AA Change: M130K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000116398
Gene: ENSMUSG00000024048
AA Change: M130K

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 benign
Transcript: ENSMUST00000128179
SMART Domains Protein: ENSMUSP00000119491
Gene: ENSMUSG00000024048

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 noncoding transcript
Transcript: ENSMUST00000131820
Predicted Effect probably benign
Transcript: ENSMUST00000148960
AA Change: M130K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123412
Gene: ENSMUSG00000024048
AA Change: M130K

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 benign
Transcript: ENSMUST00000150456
SMART Domains Protein: ENSMUSP00000114712
Gene: ENSMUSG00000024048

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
Meta Mutation Damage Score 0.192 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 98% (52/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,904,903 M1K probably null Het
Bdkrb2 T C 12: 105,592,496 V332A possibly damaging Het
Cdc27 T C 11: 104,507,200 E778G probably damaging Het
Chd4 C A 6: 125,122,007 T1586K probably benign Het
Cnga3 A G 1: 37,262,065 E622G probably benign Het
Dbh A G 2: 27,174,965 D396G possibly damaging Het
Dhodh G A 8: 109,603,475 R86* probably null Het
Dpt A C 1: 164,796,931 E67A probably damaging Het
Eif2ak2 A G 17: 78,858,639 probably benign Het
Esp4 T A 17: 40,602,445 L68M possibly damaging Het
Exo1 A G 1: 175,905,970 K787E possibly damaging Het
Fbxo38 T C 18: 62,514,843 T875A probably damaging Het
Gm5346 A T 8: 43,626,052 C378* probably null Het
Gsdma T C 11: 98,673,138 probably benign Het
Hemk1 G A 9: 107,337,216 Q6* probably null Het
Hmcn2 C T 2: 31,433,272 probably benign Het
Hook2 A G 8: 84,993,984 probably benign Het
Irx3 A G 8: 91,798,927 S507P unknown Het
Kazn C A 4: 142,239,195 probably benign Het
Kcne4 C T 1: 78,817,971 A112V possibly damaging Het
Lamb1 C T 12: 31,287,529 R372C probably damaging Het
Lrrc30 A G 17: 67,632,180 L135P probably damaging Het
Lyst T A 13: 13,635,230 M495K possibly damaging Het
Mab21l3 C A 3: 101,823,531 V131F probably damaging Het
Mki67 T A 7: 135,707,475 T416S probably benign Het
Mlst8 A T 17: 24,478,125 M56K probably benign Het
Mmp9 A G 2: 164,949,390 Y160C probably damaging Het
Mslnl A G 17: 25,746,181 Y507C probably damaging Het
Muc6 G A 7: 141,638,400 S2120F possibly damaging Het
Ncdn C T 4: 126,748,595 R423Q probably benign Het
Ncf2 A G 1: 152,825,947 probably benign Het
Nek8 G T 11: 78,170,746 S319* probably null Het
Olfr553 T C 7: 102,614,786 M68V possibly damaging Het
Olfr740 G A 14: 50,453,196 C48Y probably benign Het
Pcdh17 T A 14: 84,446,622 D176E probably damaging Het
Pcdhb15 C A 18: 37,475,389 A558E probably benign Het
Plrg1 T A 3: 83,071,219 W431R probably damaging Het
Rbfox3 T A 11: 118,496,457 Q277L possibly damaging Het
Rpgrip1 G A 14: 52,145,209 D600N possibly damaging Het
Siah3 A G 14: 75,525,981 D224G probably damaging Het
Slc22a6 T C 19: 8,621,311 L244P probably damaging Het
Stap2 A T 17: 55,997,511 W374R probably benign Het
Tbck T A 3: 132,727,084 N418K probably benign Het
Tcp11x2 T C X: 135,654,984 N474S probably damaging Het
Tenm3 A C 8: 48,228,555 V2680G probably damaging Het
Thada A T 17: 84,230,785 probably benign Het
Tlr6 C T 5: 64,953,429 V712M probably damaging Het
Tmem28 A G X: 99,845,503 I325V probably benign Het
Uvssa G T 5: 33,389,818 G243C probably damaging Het
Vwa8 T A 14: 79,164,220 probably benign Het
Znrf2 A T 6: 54,884,791 N229I probably damaging 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
IGL02136:Myl12a APN 17 70996856 nonsense probably null
R3405: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
Predicted Primers PCR Primer
(F):5'- AATACCCCAATGGCAACGGG -3'
(R):5'- AGGCACCTGTTGTATTGGC -3'

Sequencing Primer
(F):5'- CCAATGGCAACGGGAGCAATG -3'
(R):5'- CTTGTGCTGATGAGCCACG -3'
Posted On2015-01-23