Incidental Mutation 'IGL03143:Mkl2'
ID410779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mkl2
Ensembl Gene ENSMUSG00000009569
Gene NameMKL/myocardin-like 2
SynonymsGt4-1, MRTF-B, Mrtfb
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03143
Quality Score
Status
Chromosome16
Chromosomal Location13256481-13417529 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13400812 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 452 (N452D)
Ref Sequence ENSEMBL: ENSMUSP00000009713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009713] [ENSMUST00000149359]
Predicted Effect possibly damaging
Transcript: ENSMUST00000009713
AA Change: N452D

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: N452D

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: N441D

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: N441D

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T G 9: 121,909,267 L236R probably damaging Het
Agbl1 C T 7: 76,420,045 Q442* probably null Het
Ahrr G A 13: 74,257,495 Q108* probably null Het
Ankrd23 T C 1: 36,531,645 probably benign Het
Art5 A G 7: 102,097,897 I225T probably damaging Het
Asxl3 T C 18: 22,522,974 V1347A probably benign Het
Birc6 A G 17: 74,598,999 M1326V possibly damaging Het
Bpifb6 A C 2: 153,902,735 N32T probably damaging Het
Brip1 T A 11: 86,061,827 T1043S possibly damaging Het
Cbx5 A T 15: 103,213,105 V35E probably damaging Het
Ccdc175 T A 12: 72,136,058 M396L probably benign Het
Ceacam3 G T 7: 17,158,120 E263* probably null Het
Cyp4a12a A G 4: 115,302,003 T157A probably benign Het
Derl3 T C 10: 75,894,490 V129A possibly damaging Het
Dnajb1 T C 8: 83,608,474 I48T probably damaging Het
Dopey2 G A 16: 93,759,655 E349K probably benign Het
E330009J07Rik A T 6: 40,422,894 probably benign Het
Fkbp10 A T 11: 100,422,754 I285F probably benign Het
Frrs1 A T 3: 116,899,187 T37S probably damaging Het
Gata2 A G 6: 88,204,695 Y377C probably damaging Het
Gm9789 T A 16: 89,157,995 probably benign Het
Itpkb T A 1: 180,333,368 V353D probably benign Het
Kcng4 T C 8: 119,625,770 E467G probably damaging Het
Kdm3a A T 6: 71,596,861 I906N probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lamc1 A T 1: 153,332,274 L89Q probably benign Het
Lef1 G T 3: 131,200,316 E314* probably null Het
Lpin3 T C 2: 160,903,598 probably benign Het
Naaladl1 C T 19: 6,114,866 T628I possibly damaging Het
Nell1 C T 7: 50,279,533 Q259* probably null Het
Neu2 G T 1: 87,596,976 E228* probably null Het
Olfr1051 T C 2: 86,276,236 N84D probably benign Het
Olfr1475 A T 19: 13,479,471 H242Q probably damaging Het
Olfr178 A G 16: 58,889,461 F253S probably damaging Het
Olfr935 T G 9: 38,995,436 probably benign Het
Osbpl6 T A 2: 76,548,372 D124E probably damaging Het
Palm T C 10: 79,816,783 probably benign Het
Parp8 C A 13: 116,910,961 probably benign Het
Pax7 A G 4: 139,829,487 probably benign Het
Pcnx3 G A 19: 5,685,395 R468W probably damaging Het
Pds5b T A 5: 150,779,257 V818D probably damaging Het
Piezo2 C T 18: 63,108,076 V694I probably damaging Het
Plk1 A G 7: 122,161,654 probably benign Het
Polb T C 8: 22,640,351 probably benign Het
Rad54b A G 4: 11,599,755 T320A probably damaging Het
Reg3b G A 6: 78,372,200 W103* probably null Het
Slc17a3 T G 13: 23,855,979 probably null Het
Snrnp200 C T 2: 127,230,042 probably benign Het
Stox2 T A 8: 47,193,804 H207L possibly damaging Het
Tbx15 A C 3: 99,352,198 M462L possibly damaging Het
Tcirg1 G A 19: 3,898,811 T458I probably damaging Het
Tnfrsf25 A G 4: 152,116,927 probably benign Het
Trank1 A G 9: 111,366,087 K1060E probably damaging Het
Ttc16 T C 2: 32,774,445 D3G possibly damaging Het
Vmn1r199 A C 13: 22,383,129 N155H probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Other mutations in Mkl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Mkl2 APN 16 13403222 missense probably benign 0.28
IGL00546:Mkl2 APN 16 13403225 missense possibly damaging 0.71
IGL01325:Mkl2 APN 16 13401224 missense probably damaging 1.00
IGL02125:Mkl2 APN 16 13400183 splice site probably null
IGL02803:Mkl2 APN 16 13403156 missense possibly damaging 0.94
IGL03180:Mkl2 APN 16 13398332 missense probably damaging 1.00
R0281:Mkl2 UTSW 16 13412163 missense probably damaging 0.99
R0505:Mkl2 UTSW 16 13412526 missense possibly damaging 0.80
R0540:Mkl2 UTSW 16 13381601 missense probably damaging 1.00
R0607:Mkl2 UTSW 16 13381601 missense probably damaging 1.00
R1073:Mkl2 UTSW 16 13412318 missense possibly damaging 0.89
R1423:Mkl2 UTSW 16 13412241 missense possibly damaging 0.96
R1432:Mkl2 UTSW 16 13401002 missense probably benign 0.01
R1459:Mkl2 UTSW 16 13401569 missense possibly damaging 0.93
R1693:Mkl2 UTSW 16 13398470 missense possibly damaging 0.67
R1693:Mkl2 UTSW 16 13398471 missense probably damaging 0.99
R2006:Mkl2 UTSW 16 13381576 nonsense probably null
R2076:Mkl2 UTSW 16 13401382 missense probably benign 0.01
R2125:Mkl2 UTSW 16 13400804 missense possibly damaging 0.94
R2145:Mkl2 UTSW 16 13412586 missense probably damaging 0.98
R3722:Mkl2 UTSW 16 13385693 missense probably damaging 1.00
R3883:Mkl2 UTSW 16 13401458 missense probably damaging 0.99
R4088:Mkl2 UTSW 16 13384200 missense probably damaging 0.98
R4204:Mkl2 UTSW 16 13403255 missense possibly damaging 0.88
R4301:Mkl2 UTSW 16 13398305 missense probably damaging 1.00
R4622:Mkl2 UTSW 16 13332706 missense probably damaging 1.00
R4633:Mkl2 UTSW 16 13379873 missense possibly damaging 0.95
R4765:Mkl2 UTSW 16 13412594 missense probably damaging 1.00
R5201:Mkl2 UTSW 16 13401592 missense probably benign 0.00
R5403:Mkl2 UTSW 16 13401013 missense probably damaging 0.97
R5725:Mkl2 UTSW 16 13384310 nonsense probably null
R6511:Mkl2 UTSW 16 13379850 missense probably damaging 1.00
R7207:Mkl2 UTSW 16 13326436 missense probably benign
R7269:Mkl2 UTSW 16 13401034 missense possibly damaging 0.48
R7311:Mkl2 UTSW 16 13405854 nonsense probably null
R7460:Mkl2 UTSW 16 13400976 missense probably benign 0.00
Z1177:Mkl2 UTSW 16 13385606 missense probably benign 0.01
Posted On2016-08-02