Incidental Mutation 'IGL00546:Mrtfb'
ID 12016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrtfb
Ensembl Gene ENSMUSG00000009569
Gene Name myocardin related transcription factor B
Synonyms Mkl2, Gt4-1, Mrtfb, MRTF-B
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00546
Quality Score
Status
Chromosome 16
Chromosomal Location 13074345-13235393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13221086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 754 (A754D)
Ref Sequence ENSEMBL: ENSMUSP00000122815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009713] [ENSMUST00000149359]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000009713
AA Change: A765D

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: A765D

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 benign
Transcript: ENSMUST00000149359
AA Change: A754D

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: A754D

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
Coding Region Coverage
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik T C 17: 48,401,096 (GRCm39) V127A possibly damaging Het
9130008F23Rik C A 17: 41,191,004 (GRCm39) V142L possibly damaging Het
Adnp2 T C 18: 80,172,082 (GRCm39) T776A probably benign Het
Arid4a T A 12: 71,122,445 (GRCm39) V942E probably benign Het
Bdnf C T 2: 109,553,892 (GRCm39) P89S probably benign Het
Camsap3 A G 8: 3,652,077 (GRCm39) D302G probably damaging Het
Cnot6 A T 11: 49,576,093 (GRCm39) S158T probably benign Het
Dbt A C 3: 116,332,930 (GRCm39) K250Q probably benign Het
Exd2 A G 12: 80,527,321 (GRCm39) I171M probably benign Het
Ints14 A T 9: 64,880,074 (GRCm39) N196I probably benign Het
Krt79 G T 15: 101,838,308 (GRCm39) N482K probably benign Het
Loxhd1 G A 18: 77,493,672 (GRCm39) A678T probably damaging Het
Mrpl51 A G 6: 125,170,177 (GRCm39) probably benign Het
Nipsnap1 A G 11: 4,839,098 (GRCm39) E126G possibly damaging Het
Plxnb2 A G 15: 89,046,569 (GRCm39) probably benign Het
Semp2l1 A T 1: 32,585,748 (GRCm39) M54K probably benign Het
Slc15a5 A G 6: 138,020,536 (GRCm39) Y266H probably damaging Het
Ttn C A 2: 76,697,817 (GRCm39) D73Y probably damaging Het
Other mutations in Mrtfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Mrtfb APN 16 13,221,089 (GRCm39) missense possibly damaging 0.71
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
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
Posted On 2012-12-06