Incidental Mutation 'IGL01975:Mcrs1'
ID182657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcrs1
Ensembl Gene ENSMUSG00000037570
Gene Namemicrospherule protein 1
SynonymsP78, MSP58, ICP22BP, C78274
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01975
Quality Score
Status
Chromosome15
Chromosomal Location99242817-99251961 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 99243678 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041190] [ENSMUST00000041415] [ENSMUST00000163506] [ENSMUST00000229671]
Predicted Effect probably null
Transcript: ENSMUST00000041190
SMART Domains Protein: ENSMUSP00000043901
Gene: ENSMUSG00000037570

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
low complexity region 81 113 N/A INTRINSIC
Pfam:MCRS_N 134 331 5.7e-98 PFAM
FHA 362 419 2.04e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041415
SMART Domains Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579

DomainStartEndE-ValueType
PAS 20 88 3.94e0 SMART
PAC 94 136 9.92e-6 SMART
low complexity region 148 159 N/A INTRINSIC
Pfam:Ion_trans 224 523 3.8e-34 PFAM
Pfam:Ion_trans_2 453 517 1e-12 PFAM
cNMP 593 708 2.04e-16 SMART
low complexity region 781 800 N/A INTRINSIC
low complexity region 857 872 N/A INTRINSIC
coiled coil region 886 918 N/A INTRINSIC
low complexity region 977 993 N/A INTRINSIC
low complexity region 1022 1035 N/A INTRINSIC
low complexity region 1054 1062 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000163506
SMART Domains Protein: ENSMUSP00000131407
Gene: ENSMUSG00000037570

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 68 100 N/A INTRINSIC
Pfam:MCRS_N 121 318 2.4e-97 PFAM
FHA 349 406 2.04e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229143
Predicted Effect probably benign
Transcript: ENSMUST00000229399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229656
Predicted Effect probably benign
Transcript: ENSMUST00000229671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231020
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C T 5: 8,167,396 C133Y probably damaging Het
Akap3 G T 6: 126,874,000 S827I probably damaging Het
Arhgap20 C T 9: 51,849,797 Q947* probably null Het
Csf2rb2 A G 15: 78,288,886 I258T probably benign Het
Egln2 T C 7: 27,160,320 I323V possibly damaging Het
Erlin1 C A 19: 44,036,931 G348V probably damaging Het
Fbxo38 C T 18: 62,515,413 A685T probably damaging Het
Gm10272 G A 10: 77,706,774 C50Y probably damaging Het
Gm11559 G T 11: 99,864,856 Q110H unknown Het
Gpr75 T C 11: 30,891,835 S247P probably benign Het
Grid1 A T 14: 35,323,426 M409L probably benign Het
Herc3 A C 6: 58,916,576 D941A possibly damaging Het
Ilf3 T A 9: 21,392,379 S166T probably benign Het
Kcnu1 A C 8: 25,934,497 E273D probably benign Het
Kdm8 A G 7: 125,452,357 S41G probably benign Het
Ldlr G A 9: 21,733,697 V174I probably benign Het
Lpar5 T C 6: 125,081,787 L157P probably damaging Het
Ndst3 T A 3: 123,601,514 Y489F possibly damaging Het
Olfr822 A G 10: 130,075,270 I287V probably damaging Het
Palmd A T 3: 116,923,634 S405T probably benign Het
Ptger1 T C 8: 83,669,520 probably benign Het
Rbp3 A T 14: 33,958,645 K1068M probably damaging Het
Rimbp2 T C 5: 128,797,648 D293G probably benign Het
Rnf20 T A 4: 49,654,473 D843E probably benign Het
Rxfp1 A G 3: 79,660,078 S322P possibly damaging Het
Slc22a8 T A 19: 8,605,411 I152N probably damaging Het
Slc6a21 T A 7: 45,287,851 D268E probably benign Het
Sstr1 A G 12: 58,213,626 N345S probably benign Het
Stx17 T C 4: 48,180,670 S172P probably damaging Het
Syne1 A G 10: 5,068,908 probably benign Het
Tpte A G 8: 22,349,337 T467A probably damaging Het
Trappc12 A G 12: 28,692,492 probably null Het
Trav13-2 A T 14: 53,635,366 T100S possibly damaging Het
Trip12 A G 1: 84,814,813 probably benign Het
Wdr36 A G 18: 32,852,488 H486R probably damaging Het
Zswim5 T C 4: 116,965,692 I453T probably benign Het
Other mutations in Mcrs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Mcrs1 APN 15 99243385 missense probably damaging 0.97
IGL01338:Mcrs1 APN 15 99249501 missense probably damaging 1.00
PIT4651001:Mcrs1 UTSW 15 99246951 missense probably damaging 1.00
R0125:Mcrs1 UTSW 15 99244727 unclassified probably benign
R0520:Mcrs1 UTSW 15 99248455 unclassified probably null
R0744:Mcrs1 UTSW 15 99243449 unclassified probably benign
R0833:Mcrs1 UTSW 15 99243449 unclassified probably benign
R0836:Mcrs1 UTSW 15 99243449 unclassified probably benign
R2099:Mcrs1 UTSW 15 99249946 missense probably benign 0.00
R2133:Mcrs1 UTSW 15 99243375 missense probably damaging 1.00
R4557:Mcrs1 UTSW 15 99243147 missense probably benign 0.01
R5425:Mcrs1 UTSW 15 99243688 missense probably damaging 1.00
R5517:Mcrs1 UTSW 15 99246995 missense possibly damaging 0.88
R7129:Mcrs1 UTSW 15 99248728 missense probably damaging 1.00
Posted On2014-05-07