Incidental Mutation 'IGL02510:Med31'
ID296511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med31
Ensembl Gene ENSMUSG00000020801
Gene Namemediator complex subunit 31
Synonyms3110004H13Rik, l11Jus15
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02510
Quality Score
Status
Chromosome11
Chromosomal Location72211724-72215592 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 72212056 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 75 (M75I)
Ref Sequence ENSEMBL: ENSMUSP00000021157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021157] [ENSMUST00000021158] [ENSMUST00000108505] [ENSMUST00000131546] [ENSMUST00000142530]
Predicted Effect probably benign
Transcript: ENSMUST00000021157
AA Change: M75I

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021157
Gene: ENSMUSG00000020801
AA Change: M75I

DomainStartEndE-ValueType
Pfam:Med31 15 109 2.7e-43 PFAM
low complexity region 115 125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000021158
SMART Domains Protein: ENSMUSP00000021158
Gene: ENSMUSG00000020803

DomainStartEndE-ValueType
Pfam:DUF953 8 122 7.4e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000066087
Predicted Effect probably benign
Transcript: ENSMUST00000108505
SMART Domains Protein: ENSMUSP00000104145
Gene: ENSMUSG00000020807

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
coiled coil region 210 231 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129264
Predicted Effect probably benign
Transcript: ENSMUST00000131546
SMART Domains Protein: ENSMUSP00000122273
Gene: ENSMUSG00000020807

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
coiled coil region 210 231 N/A INTRINSIC
coiled coil region 256 279 N/A INTRINSIC
low complexity region 291 305 N/A INTRINSIC
low complexity region 360 377 N/A INTRINSIC
low complexity region 545 559 N/A INTRINSIC
coiled coil region 625 653 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142530
SMART Domains Protein: ENSMUSP00000115276
Gene: ENSMUSG00000020807

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
coiled coil region 210 231 N/A INTRINSIC
coiled coil region 256 279 N/A INTRINSIC
low complexity region 291 305 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154093
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit developmental delay, reduced cell proliferation, reduced ossification and chondrogenesis, and death during late-gestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 G A 1: 171,251,390 S193N probably benign Het
Arrdc1 C A 2: 24,935,100 V16F probably damaging Het
Bsx A T 9: 40,874,221 Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 T253A probably benign Het
Cdkl3 T C 11: 52,011,270 L102P probably damaging Het
Cgnl1 G T 9: 71,725,357 N237K probably benign Het
Cldn14 T A 16: 93,919,956 M1L probably damaging Het
Col1a2 C T 6: 4,516,398 R171C unknown Het
Col7a1 C A 9: 108,973,231 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhrs2 G A 14: 55,236,075 V64M probably damaging Het
Disp3 G A 4: 148,252,701 H886Y probably benign Het
Dst G A 1: 34,229,251 probably null Het
Fnbp4 T C 2: 90,751,475 V215A probably benign Het
Fzd9 A G 5: 135,249,615 L472P probably damaging Het
Gm5096 A G 18: 87,757,529 Q392R probably benign Het
Hpd C T 5: 123,181,910 R15Q possibly damaging Het
Htra2 A G 6: 83,051,611 V412A probably damaging Het
Ift80 A G 3: 68,898,543 F722S probably benign Het
Kcnq2 T C 2: 181,081,361 T741A probably benign Het
Kl A C 5: 150,989,001 E738D probably damaging Het
Klra4 T A 6: 130,059,543 I178L probably damaging Het
Klra9 T C 6: 130,191,222 E27G probably benign Het
Kntc1 T C 5: 123,819,062 Y2145H probably benign Het
Mbd5 T A 2: 49,257,029 M417K probably benign Het
Mpeg1 A T 19: 12,461,424 D82V probably damaging Het
Msto1 A G 3: 88,910,345 Y439H probably damaging Het
Olfr23 G A 11: 73,941,005 G253E probably damaging Het
Olfr332 T C 11: 58,490,539 Y72C probably damaging Het
Olfr344 T C 2: 36,568,681 S28P possibly damaging Het
Olfr488 T A 7: 108,256,141 probably benign Het
Prtg G A 9: 72,890,869 V706M probably damaging Het
Sfxn2 G T 19: 46,588,272 A186S probably benign Het
Slc12a5 A T 2: 164,982,808 probably benign Het
Slc7a3 T C X: 101,082,833 E222G probably benign Het
Stox1 A T 10: 62,664,047 H911Q probably benign Het
Sult3a2 A T 10: 33,766,439 N289K probably benign Het
Supt20 A G 3: 54,715,524 probably benign Het
Tchh A G 3: 93,444,078 E275G unknown Het
Tectb A T 19: 55,191,511 N263I probably damaging Het
Tsga10 C T 1: 37,760,985 R608Q possibly damaging Het
Ttyh3 A G 5: 140,629,464 Y390H probably damaging Het
Utf1 C A 7: 139,944,016 S48* probably null Het
Zfp358 G A 8: 3,496,786 G456D probably benign Het
Zufsp A G 10: 33,930,154 probably null Het
Other mutations in Med31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Med31 APN 11 72212079 unclassified probably null
R0627:Med31 UTSW 11 72213775 critical splice donor site probably null
R0815:Med31 UTSW 11 72213831 missense probably damaging 1.00
R1971:Med31 UTSW 11 72215418 start gained probably benign
R2353:Med31 UTSW 11 72214140 missense probably damaging 0.99
R3964:Med31 UTSW 11 72211929 missense probably benign 0.01
R3965:Med31 UTSW 11 72211929 missense probably benign 0.01
R3966:Med31 UTSW 11 72211929 missense probably benign 0.01
R4883:Med31 UTSW 11 72214149 missense possibly damaging 0.49
Posted On2015-04-16