Incidental Mutation 'IGL01670:Myl12a'
ID103435
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: 0.381) question?
Stock #IGL01670
Quality Score
Status
Chromosome17
Chromosomal Location70993656-71002878 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70996853 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 10 (T10A)
Ref Sequence ENSEMBL: ENSMUSP00000119491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024846] [ENSMUST00000123686] [ENSMUST00000128179] [ENSMUST00000148960] [ENSMUST00000150456]
Predicted Effect probably benign
Transcript: ENSMUST00000024846
AA Change: T10A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024846
Gene: ENSMUSG00000024048
AA Change: T10A

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: ENSMUST00000123686
AA Change: T10A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116398
Gene: ENSMUSG00000024048
AA Change: T10A

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
AA Change: T10A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000119491
Gene: ENSMUSG00000024048
AA Change: T10A

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 benign
Transcript: ENSMUST00000148960
AA Change: T10A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123412
Gene: ENSMUSG00000024048
AA Change: T10A

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
AA Change: T10A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114712
Gene: ENSMUSG00000024048
AA Change: T10A

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A C 9: 106,436,807 probably benign Het
Add1 C A 5: 34,620,063 Q57K probably damaging Het
Alms1 A G 6: 85,678,150 E3226G probably benign Het
Arl1 G T 10: 88,742,022 R151L probably damaging Het
Cabs1 T A 5: 87,980,010 D173E possibly damaging Het
Cdc34b T C 11: 94,742,019 L15P probably benign Het
Cdyl2 A G 8: 116,624,353 V13A probably damaging Het
Chd7 G T 4: 8,827,033 R1026L probably damaging Het
Cldn34b4 T C X: 76,397,589 S151P probably damaging Het
Col14a1 T A 15: 55,329,266 I25N unknown Het
Crisp4 T A 1: 18,128,677 T178S probably benign Het
Csmd2 C T 4: 128,513,371 probably benign Het
Csmd3 T G 15: 47,611,829 N2454H probably damaging Het
Cytip A T 2: 58,133,773 I345N probably damaging Het
Frem2 A T 3: 53,656,937 S50T possibly damaging Het
Gm12666 T C 4: 92,191,500 probably null Het
Gm9747 C T 1: 82,234,149 probably benign Het
Gpr37 A G 6: 25,669,834 F337S probably damaging Het
Herc1 A G 9: 66,487,060 E4182G probably damaging Het
Isyna1 C T 8: 70,597,056 P511L probably benign Het
Kdm4a T C 4: 118,160,501 Y456C probably damaging Het
Kera A T 10: 97,609,077 R99S possibly damaging Het
Mcm2 A G 6: 88,887,632 probably benign Het
Nav3 A G 10: 109,714,241 V1876A possibly damaging Het
Nkx6-1 T A 5: 101,661,940 Q247L probably benign Het
Nol8 A C 13: 49,661,308 K297N possibly damaging Het
Olfr1143 A G 2: 87,802,880 T164A probably benign Het
Olfr1224-ps1 T A 2: 89,156,917 Y86F probably benign Het
Olfr558 A T 7: 102,709,565 Q102L probably damaging Het
Pard3b A T 1: 62,211,648 N579Y probably damaging Het
Pdcd11 T A 19: 47,106,304 L509H probably damaging Het
Prss29 T C 17: 25,322,463 S266P probably benign Het
Rapgef3 G T 15: 97,749,662 H766N probably benign Het
Rasa1 A T 13: 85,225,490 S818T probably damaging Het
Rtn4ip1 A G 10: 43,928,326 M1V probably null Het
Sall1 A T 8: 89,031,571 V635D probably benign Het
Slc35b4 C T 6: 34,170,549 V35I probably benign Het
Slc5a11 G A 7: 123,269,949 A587T probably benign Het
Slc6a21 T C 7: 45,288,133 V616A possibly damaging Het
Sorl1 A G 9: 42,001,492 S1398P possibly damaging Het
Srcap A G 7: 127,528,432 K390E probably damaging Het
Sycp2 C T 2: 178,378,050 E558K probably benign Het
Tcf20 T C 15: 82,855,363 N629S possibly damaging Het
Tmem154 A G 3: 84,684,230 Y29C probably damaging Het
Tmtc3 A G 10: 100,447,125 I856T probably benign Het
Zswim6 A G 13: 107,728,566 noncoding transcript Het
Other mutations in Myl12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2014-01-21