Incidental Mutation 'R4301:Mrtfb'
ID 322429
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 041088-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4301 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 13074345-13235393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13216169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 294 (Y294H)
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: Y305H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: Y305H

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: ENSMUST00000131985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140892
Predicted Effect probably damaging
Transcript: ENSMUST00000149359
AA Change: Y294H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: Y294H

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 0.5375 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,377,266 (GRCm39) V95D probably damaging Het
Adamtsl2 A G 2: 26,977,295 (GRCm39) D252G probably null Het
Adgra3 T C 5: 50,118,420 (GRCm39) R1043G possibly damaging Het
Atxn7l1 A G 12: 33,417,237 (GRCm39) D562G probably damaging Het
Ccdc70 T C 8: 22,463,228 (GRCm39) V6A possibly damaging Het
Cdc25a T C 9: 109,718,810 (GRCm39) V337A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Crb1 A G 1: 139,176,568 (GRCm39) S472P probably benign Het
Fam193b G A 13: 55,690,417 (GRCm39) R740* probably null Het
Fer G T 17: 64,385,905 (GRCm39) L292F probably damaging Het
Gmppa G A 1: 75,419,140 (GRCm39) R349H possibly damaging Het
Hspa1a T C 17: 35,189,482 (GRCm39) I474V probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc30 A G 17: 67,939,563 (GRCm39) S6P probably damaging Het
Lzts3 A G 2: 130,478,358 (GRCm39) S133P probably damaging Het
Mtmr12 T A 15: 12,236,106 (GRCm39) F122I possibly damaging Het
Mypn A G 10: 62,954,263 (GRCm39) Y124H probably damaging Het
Nfat5 T C 8: 108,082,327 (GRCm39) probably benign Het
Npr2 T C 4: 43,641,332 (GRCm39) probably null Het
Or5a3 T C 19: 12,400,081 (GRCm39) L136P probably damaging Het
Pgm2 G A 5: 64,261,140 (GRCm39) W51* probably null Het
Phip G A 9: 82,841,766 (GRCm39) R48* probably null Het
Piezo2 T C 18: 63,217,911 (GRCm39) T1075A probably damaging Het
Ppat G T 5: 77,076,348 (GRCm39) probably benign Het
Ppp2r2b T A 18: 43,031,811 (GRCm39) E23D probably null Het
Prickle1 T C 15: 93,406,517 (GRCm39) I169V possibly damaging Het
Rab37 T A 11: 115,049,390 (GRCm39) D95E possibly damaging Het
Sash1 A G 10: 8,627,234 (GRCm39) V50A probably benign Het
Siae C A 9: 37,545,009 (GRCm39) Q335K possibly damaging Het
Snx14 A T 9: 88,292,676 (GRCm39) I217K probably damaging Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Sptb A G 12: 76,659,471 (GRCm39) L1143S probably damaging Het
Trim80 T C 11: 115,335,939 (GRCm39) probably null Het
Trpm3 T C 19: 22,964,656 (GRCm39) S1374P probably benign Het
Vldlr C A 19: 27,215,802 (GRCm39) D266E possibly damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zbtb10 A T 3: 9,330,220 (GRCm39) Q526L probably damaging Het
Zfr2 T C 10: 81,078,018 (GRCm39) probably benign Het
Zswim8 G A 14: 20,763,977 (GRCm39) R449H possibly damaging Het
Zzef1 T C 11: 72,779,861 (GRCm39) V1878A 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
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
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'- AGGAACAGACATTTCCTACACTG -3'
(R):5'- ACAGCTTACTTGATGGGTGC -3'

Sequencing Primer
(F):5'- AAAGTTCCTTTGCACTTTCAACACTG -3'
(R):5'- AGCTTACTTGATGGGTGCAGGTAG -3'
Posted On 2015-06-20