Incidental Mutation 'R9298:Mrtfb'
ID 704751
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 068963-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9298 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 13074345-13235393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13202082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 115 (Q115R)
Ref Sequence ENSEMBL: ENSMUSP00000122815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009713] [ENSMUST00000149359]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000009713
AA Change: Q126R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: Q126R

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 probably benign
Transcript: ENSMUST00000149359
AA Change: Q115R

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: Q115R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 73,198,923 (GRCm39) A110D probably benign Het
4930407I10Rik A G 15: 81,947,615 (GRCm39) E504G probably benign Het
Apbb2 T C 5: 66,609,018 (GRCm39) K210E probably benign Het
Arhgef37 G T 18: 61,651,072 (GRCm39) A151D probably damaging Het
Btaf1 A G 19: 36,964,114 (GRCm39) Y895C probably benign Het
Catsperb A G 12: 101,560,600 (GRCm39) I864V possibly damaging Het
Cdhr17 T A 5: 16,996,855 (GRCm39) C10* probably null Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Col18a1 G A 10: 76,893,204 (GRCm39) T1057M probably damaging Het
Col1a2 T A 6: 4,515,260 (GRCm39) probably null Het
Col6a4 A G 9: 105,945,534 (GRCm39) I860T probably damaging Het
Csmd3 A C 15: 47,617,187 (GRCm39) H1000Q Het
Cyp4a29 T A 4: 115,108,395 (GRCm39) M373K probably damaging Het
Dnhd1 A G 7: 105,333,173 (GRCm39) E215G probably damaging Het
Dop1b A G 16: 93,597,087 (GRCm39) E1972G probably damaging Het
Dusp19 T C 2: 80,447,729 (GRCm39) M1T probably null Het
Eif4b A G 15: 101,990,449 (GRCm39) T18A possibly damaging Het
Exosc6 G A 8: 111,783,513 (GRCm39) A171T probably damaging Het
Fau G A 19: 6,108,297 (GRCm39) R6H probably benign Het
Flrt3 T C 2: 140,501,879 (GRCm39) D583G probably damaging Het
Fpgt A T 3: 154,792,695 (GRCm39) L444* probably null Het
Gm10226 A G 17: 21,910,768 (GRCm39) E1G probably null Het
Gm14443 A T 2: 175,011,869 (GRCm39) C192* probably null Het
Gm4353 T A 7: 115,682,843 (GRCm39) N246I probably benign Het
Igfn1 A G 1: 135,926,327 (GRCm39) L41P probably benign Het
Iigp1 T G 18: 60,523,063 (GRCm39) D60E probably benign Het
Kcnt2 T A 1: 140,353,035 (GRCm39) V248D probably damaging Het
Kctd14 A G 7: 97,107,243 (GRCm39) K166R probably benign Het
Kdm4d G A 9: 14,375,336 (GRCm39) T174M probably damaging Het
Kdm5b T C 1: 134,528,493 (GRCm39) probably null Het
Maz CGCGGCCTCGGCGGCTGGTGCGG CGCGG 7: 126,625,075 (GRCm39) probably benign Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Or10a5 A T 7: 106,635,640 (GRCm39) I93F probably damaging Het
Or2h1b A T 17: 37,462,572 (GRCm39) V97D probably damaging Het
Or5b95 T A 19: 12,658,190 (GRCm39) C239* probably null Het
Pigc C T 1: 161,798,032 (GRCm39) R5C probably benign Het
Plekhm2 C A 4: 141,356,829 (GRCm39) M771I probably benign Het
Runx1 T A 16: 92,441,147 (GRCm39) T221S possibly damaging Het
S100pbp A G 4: 129,044,847 (GRCm39) Y363H probably damaging Het
Sema5a A G 15: 32,619,040 (GRCm39) T523A probably benign Het
Slc38a8 A G 8: 120,212,851 (GRCm39) F270S possibly damaging Het
Slc4a1ap T C 5: 31,693,538 (GRCm39) S491P probably damaging Het
Slc66a2 T C 18: 80,300,300 (GRCm39) L57P probably damaging Het
Slc7a6 T C 8: 106,922,534 (GRCm39) V440A probably damaging Het
Sobp A T 10: 42,898,902 (GRCm39) C228S probably damaging Het
Svop G A 5: 114,168,231 (GRCm39) T456M probably benign Het
Synrg A G 11: 83,900,278 (GRCm39) D750G probably damaging Het
Syt14 C A 1: 192,612,944 (GRCm39) E336* probably null Het
Tcp11l1 C T 2: 104,528,897 (GRCm39) V134I possibly damaging Het
Tex51 T C 18: 32,594,029 (GRCm39) R110G possibly damaging Het
Tle3 T A 9: 61,319,562 (GRCm39) H443Q possibly damaging Het
Unc13a C T 8: 72,108,335 (GRCm39) R506Q possibly damaging Het
Vmn1r121 A C 7: 20,832,344 (GRCm39) V32G probably damaging Het
Wiz A G 17: 32,580,714 (GRCm39) F246L probably benign Het
Zfp672 A T 11: 58,220,590 (GRCm39) M3K unknown Het
Zfp709 A T 8: 72,644,648 (GRCm39) E692D possibly damaging Het
Zglp1 A T 9: 20,977,482 (GRCm39) L111Q probably benign 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
R6511:Mrtfb UTSW 16 13,197,714 (GRCm39) missense probably damaging 1.00
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
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'- ATGGTGATTCATCCTTGGAGC -3'
(R):5'- ACACCCTTGACTGACGTTAG -3'

Sequencing Primer
(F):5'- AGCTGCTATGTTGCATAGACAG -3'
(R):5'- GACTGACGTTAGCATCTTAGTCAG -3'
Posted On 2022-03-25