Incidental Mutation 'R6511:Mrtfb'
ID 519933
Institutional Source Beutler Lab
Gene Symbol Mrtfb
Ensembl Gene ENSMUSG00000009569
Gene Name myocardin related transcription factor B
Synonyms Mkl2, Gt4-1, Mrtfb, MRTF-B
MMRRC Submission 044639-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6511 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 13074345-13235393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13197714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 66 (S66R)
Ref Sequence ENSEMBL: ENSMUSP00000122815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009713] [ENSMUST00000149359]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000009713
AA Change: S77R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: S77R

DomainStartEndE-ValueType
RPEL 51 76 9.67e-5 SMART
RPEL 95 120 2.22e-4 SMART
RPEL 139 164 1.56e-8 SMART
low complexity region 217 230 N/A INTRINSIC
low complexity region 291 304 N/A INTRINSIC
low complexity region 329 352 N/A INTRINSIC
low complexity region 369 381 N/A INTRINSIC
SAP 394 428 1.29e-8 SMART
low complexity region 495 510 N/A INTRINSIC
coiled coil region 552 601 N/A INTRINSIC
low complexity region 603 617 N/A INTRINSIC
low complexity region 699 722 N/A INTRINSIC
low complexity region 749 775 N/A INTRINSIC
low complexity region 842 854 N/A INTRINSIC
low complexity region 1039 1050 N/A INTRINSIC
low complexity region 1057 1074 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140892
Predicted Effect probably damaging
Transcript: ENSMUST00000149359
AA Change: S66R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: S66R

DomainStartEndE-ValueType
RPEL 40 65 4.51e-5 SMART
RPEL 84 109 2.22e-4 SMART
RPEL 128 153 1.56e-8 SMART
low complexity region 206 219 N/A INTRINSIC
low complexity region 280 293 N/A INTRINSIC
low complexity region 318 341 N/A INTRINSIC
low complexity region 358 370 N/A INTRINSIC
SAP 383 417 1.29e-8 SMART
low complexity region 484 499 N/A INTRINSIC
coiled coil region 541 590 N/A INTRINSIC
low complexity region 592 606 N/A INTRINSIC
low complexity region 688 711 N/A INTRINSIC
low complexity region 738 764 N/A INTRINSIC
low complexity region 831 843 N/A INTRINSIC
low complexity region 1028 1039 N/A INTRINSIC
low complexity region 1046 1063 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210378
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (39/39)
MGI Phenotype PHENOTYPE: Mice homozygous for knock-out alleles exhibit prenatal lethality with widespread hemorrhaging, cardiovascular defects, and craniofacial anomalies. Mice homozygous for a gene trap allele exhibit fetal lethality due to cardiac outflow tractdefects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,195,344 (GRCm39) H718Y probably damaging Het
Abcc8 G A 7: 45,800,285 (GRCm39) T499I possibly damaging Het
Azin2 C A 4: 128,828,259 (GRCm39) R316L probably damaging Het
Cep85l C T 10: 53,154,188 (GRCm39) V702I probably benign Het
Cfap69 A T 5: 5,667,220 (GRCm39) C442S probably damaging Het
Commd3 G A 2: 18,679,650 (GRCm39) G148R probably benign Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Cyp4a30b A T 4: 115,313,905 (GRCm39) D162V probably damaging Het
Exoc3l G T 8: 106,019,887 (GRCm39) T346K probably benign Het
Gas8 T C 8: 124,250,896 (GRCm39) V123A probably benign Het
Hmcn2 T G 2: 31,246,354 (GRCm39) D774E possibly damaging Het
Itga1 G T 13: 115,129,037 (GRCm39) S540R probably damaging Het
Itpr2 T C 6: 146,231,225 (GRCm39) N1145S probably damaging Het
Kcnc2 C T 10: 112,297,972 (GRCm39) probably benign Het
Lrp5 G A 19: 3,702,296 (GRCm39) R174W probably damaging Het
Lrrn4 T G 2: 132,712,246 (GRCm39) S526R probably benign Het
Map3k6 G A 4: 132,975,389 (GRCm39) R708H probably damaging Het
Mefv T C 16: 3,533,810 (GRCm39) T154A probably benign Het
Mtif2 G T 11: 29,486,949 (GRCm39) A320S possibly damaging Het
Nos2 A G 11: 78,846,290 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,266 (GRCm39) L198P probably damaging Het
Or9g4 A G 2: 85,505,184 (GRCm39) S104P possibly damaging Het
Pip5k1c T C 10: 81,146,651 (GRCm39) Y44H probably damaging Het
Ppp1r13b T C 12: 111,798,001 (GRCm39) E972G probably damaging Het
Prdm12 T C 2: 31,530,321 (GRCm39) S71P probably damaging Het
Prkag2 G T 5: 25,305,286 (GRCm39) probably benign Het
Ptprb T C 10: 116,182,725 (GRCm39) L1467P probably damaging Het
Rnf43 G A 11: 87,622,989 (GRCm39) V697I probably benign Het
Rpl7 C A 1: 16,173,889 (GRCm39) A12S probably benign Het
Slc25a54 T G 3: 109,001,572 (GRCm39) I120S possibly damaging Het
Slc41a2 T C 10: 83,119,652 (GRCm39) H370R probably damaging Het
Speer1d A G 5: 11,307,275 (GRCm39) Y51C probably benign Het
Sv2c C T 13: 96,185,033 (GRCm39) V215I probably benign Het
Synpo2l T C 14: 20,712,518 (GRCm39) E34G probably damaging Het
Tubgcp5 T A 7: 55,467,140 (GRCm39) C703* probably null Het
Vmn1r158 T C 7: 22,490,116 (GRCm39) K31R probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp2 A T 11: 50,791,234 (GRCm39) C270S probably damaging Het
Other mutations in Mrtfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Mrtfb APN 16 13,221,089 (GRCm39) missense possibly damaging 0.71
IGL00546:Mrtfb APN 16 13,221,086 (GRCm39) missense probably benign 0.28
IGL01325:Mrtfb APN 16 13,219,088 (GRCm39) missense probably damaging 1.00
IGL02125:Mrtfb APN 16 13,218,047 (GRCm39) splice site probably null
IGL02803:Mrtfb APN 16 13,221,020 (GRCm39) missense possibly damaging 0.94
IGL03143:Mrtfb APN 16 13,218,676 (GRCm39) missense possibly damaging 0.46
IGL03180:Mrtfb APN 16 13,216,196 (GRCm39) missense probably damaging 1.00
R0281:Mrtfb UTSW 16 13,230,027 (GRCm39) missense probably damaging 0.99
R0505:Mrtfb UTSW 16 13,230,390 (GRCm39) missense possibly damaging 0.80
R0540:Mrtfb UTSW 16 13,199,465 (GRCm39) missense probably damaging 1.00
R0607:Mrtfb UTSW 16 13,199,465 (GRCm39) missense probably damaging 1.00
R1073:Mrtfb UTSW 16 13,230,182 (GRCm39) missense possibly damaging 0.89
R1423:Mrtfb UTSW 16 13,230,105 (GRCm39) missense possibly damaging 0.96
R1432:Mrtfb UTSW 16 13,218,866 (GRCm39) missense probably benign 0.01
R1459:Mrtfb UTSW 16 13,219,433 (GRCm39) missense possibly damaging 0.93
R1693:Mrtfb UTSW 16 13,216,335 (GRCm39) missense probably damaging 0.99
R1693:Mrtfb UTSW 16 13,216,334 (GRCm39) missense possibly damaging 0.67
R2006:Mrtfb UTSW 16 13,199,440 (GRCm39) nonsense probably null
R2076:Mrtfb UTSW 16 13,219,246 (GRCm39) missense probably benign 0.01
R2125:Mrtfb UTSW 16 13,218,668 (GRCm39) missense possibly damaging 0.94
R2145:Mrtfb UTSW 16 13,230,450 (GRCm39) missense probably damaging 0.98
R3722:Mrtfb UTSW 16 13,203,557 (GRCm39) missense probably damaging 1.00
R3883:Mrtfb UTSW 16 13,219,322 (GRCm39) missense probably damaging 0.99
R4088:Mrtfb UTSW 16 13,202,064 (GRCm39) missense probably damaging 0.98
R4204:Mrtfb UTSW 16 13,221,119 (GRCm39) missense possibly damaging 0.88
R4301:Mrtfb UTSW 16 13,216,169 (GRCm39) missense probably damaging 1.00
R4622:Mrtfb UTSW 16 13,150,570 (GRCm39) missense probably damaging 1.00
R4633:Mrtfb UTSW 16 13,197,737 (GRCm39) missense possibly damaging 0.95
R4765:Mrtfb UTSW 16 13,230,458 (GRCm39) missense probably damaging 1.00
R5201:Mrtfb UTSW 16 13,219,456 (GRCm39) missense probably benign 0.00
R5403:Mrtfb UTSW 16 13,218,877 (GRCm39) missense probably damaging 0.97
R5725:Mrtfb UTSW 16 13,202,174 (GRCm39) nonsense probably null
R7207:Mrtfb UTSW 16 13,144,300 (GRCm39) missense probably benign
R7269:Mrtfb UTSW 16 13,218,898 (GRCm39) missense possibly damaging 0.48
R7311:Mrtfb UTSW 16 13,223,718 (GRCm39) nonsense probably null
R7460:Mrtfb UTSW 16 13,218,840 (GRCm39) missense probably benign 0.00
R8480:Mrtfb UTSW 16 13,202,056 (GRCm39) critical splice acceptor site probably null
R9032:Mrtfb UTSW 16 13,230,092 (GRCm39) missense probably damaging 1.00
R9085:Mrtfb UTSW 16 13,230,092 (GRCm39) missense probably damaging 1.00
R9098:Mrtfb UTSW 16 13,221,053 (GRCm39) missense probably benign
R9229:Mrtfb UTSW 16 13,230,185 (GRCm39) missense possibly damaging 0.89
R9298:Mrtfb UTSW 16 13,202,082 (GRCm39) missense probably benign 0.10
R9310:Mrtfb UTSW 16 13,218,954 (GRCm39) missense probably benign
R9343:Mrtfb UTSW 16 13,218,791 (GRCm39) missense probably benign 0.00
R9436:Mrtfb UTSW 16 13,223,151 (GRCm39) nonsense probably null
Z1177:Mrtfb UTSW 16 13,203,470 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCAAAGAATGTAAGTTCAGTTGGG -3'
(R):5'- ACTGAACTGTCACACACTTTCTG -3'

Sequencing Primer
(F):5'- GGGTAATGTTGAAGAGTCCAAATTTG -3'
(R):5'- ACTGTCACACACTTTCTGAAAATCTC -3'
Posted On 2018-06-06