Incidental Mutation 'R6904:Myl12b'
ID 538712
Institutional Source Beutler Lab
Gene Symbol Myl12b
Ensembl Gene ENSMUSG00000034868
Gene Name myosin, light chain 12B, regulatory
Synonyms 1500001M02Rik, RLC-B, Mylc2b
MMRRC Submission 045033-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R6904 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 71280958-71297511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71284135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 31 (I31N)
Ref Sequence ENSEMBL: ENSMUSP00000042364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038446]
AlphaFold Q3THE2
Predicted Effect probably damaging
Transcript: ENSMUST00000038446
AA Change: I31N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042364
Gene: ENSMUSG00000034868
AA Change: I31N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,516 (GRCm39) Y406* probably null Het
Acadvl T C 11: 69,905,159 (GRCm39) D109G probably benign Het
Adam24 G A 8: 41,134,542 (GRCm39) G670E probably damaging Het
Angpt1 T C 15: 42,323,136 (GRCm39) M378V probably benign Het
Ankrd33 G A 15: 101,014,993 (GRCm39) probably null Het
Apol7b G A 15: 77,307,625 (GRCm39) T290I probably benign Het
Atg4a-ps A G 3: 103,553,180 (GRCm39) W54R probably damaging Het
B3glct A G 5: 149,663,069 (GRCm39) probably null Het
Bmp7 A G 2: 172,714,706 (GRCm39) S368P probably damaging Het
Boc A G 16: 44,312,154 (GRCm39) V636A probably damaging Het
Cacna1i G A 15: 80,259,002 (GRCm39) R1237H probably damaging Het
Cdcp1 T C 9: 123,002,980 (GRCm39) D697G probably benign Het
Cep85l T C 10: 53,225,194 (GRCm39) T132A probably benign Het
Ces1b T A 8: 93,787,038 (GRCm39) Y447F probably damaging Het
Cfhr4 T G 1: 139,659,391 (GRCm39) N642H possibly damaging Het
Cntn4 A T 6: 106,674,544 (GRCm39) T1015S probably benign Het
Eea1 T G 10: 95,838,741 (GRCm39) probably null Het
Fcgbpl1 C T 7: 27,836,638 (GRCm39) R186C probably damaging Het
Hipk1 A T 3: 103,684,828 (GRCm39) N262K possibly damaging Het
Jmjd8 G A 17: 26,048,026 (GRCm39) R41H possibly damaging Het
Klhl3 T A 13: 58,178,259 (GRCm39) T344S probably damaging Het
Krt39 T C 11: 99,410,647 (GRCm39) D175G probably damaging Het
Map4k1 A G 7: 28,686,227 (GRCm39) Y81C probably damaging Het
Mpdu1 T A 11: 69,549,411 (GRCm39) T95S probably benign Het
Ndufaf5 T A 2: 140,030,700 (GRCm39) Y195* probably null Het
Or4c119 G A 2: 88,987,157 (GRCm39) R121C possibly damaging Het
Or4d5 T C 9: 40,012,652 (GRCm39) I45V probably benign Het
Or51v15-ps1 A T 7: 103,278,790 (GRCm39) F126I probably benign Het
Or52z12 T A 7: 103,233,727 (GRCm39) I166N possibly damaging Het
Or5w17 A G 2: 87,584,223 (GRCm39) V38A probably benign Het
Oxgr1 T A 14: 120,259,431 (GRCm39) I259F possibly damaging Het
Pcdhb9 T A 18: 37,534,970 (GRCm39) D321E probably benign Het
Pi4kb G T 3: 94,900,461 (GRCm39) R392L probably damaging Het
Pramel18 G A 4: 101,767,291 (GRCm39) C180Y possibly damaging Het
Prss41 T C 17: 24,056,622 (GRCm39) K151R probably benign Het
Rev3l T A 10: 39,697,477 (GRCm39) V658D probably benign Het
Snx4 A G 16: 33,115,108 (GRCm39) I430V probably damaging Het
Tanc2 C T 11: 105,726,056 (GRCm39) H407Y possibly damaging Het
Tcf25 G A 8: 124,127,437 (GRCm39) probably null Het
Tsc22d1 A T 14: 76,743,923 (GRCm39) K24* probably null Het
Vmn2r30 A G 7: 7,315,547 (GRCm39) F762S probably damaging Het
Xrcc6 A G 15: 81,913,323 (GRCm39) T319A probably benign Het
Zbtb1 C T 12: 76,432,985 (GRCm39) R324* probably null Het
Zc3h7a A G 16: 10,963,535 (GRCm39) Y729H probably damaging Het
Zfp329 C A 7: 12,540,457 (GRCm39) probably benign Het
Zfp456 A T 13: 67,514,384 (GRCm39) S441T probably benign Het
Other mutations in Myl12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02114:Myl12b APN 17 71,284,164 (GRCm39) missense possibly damaging 0.48
R3837:Myl12b UTSW 17 71,281,480 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTCATAGGTACCTCAGAACAAGG -3'
(R):5'- TGGGCAGACTTACTCTTCCC -3'

Sequencing Primer
(F):5'- GTACCTCAGAACAAGGGTTAAATC -3'
(R):5'- GTTAGGCAATGAGACCCCTG -3'
Posted On 2018-11-06