Incidental Mutation 'IGL01322:Mcrs1'
ID 74099
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcrs1
Ensembl Gene ENSMUSG00000037570
Gene Name microspherule protein 1
Synonyms MSP58, P78, C78274, ICP22BP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01322
Quality Score
Status
Chromosome 15
Chromosomal Location 99140698-99149838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99141266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 399 (I399N)
Ref Sequence ENSEMBL: ENSMUSP00000131407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041190] [ENSMUST00000041415] [ENSMUST00000163506]
AlphaFold Q99L90
Predicted Effect probably damaging
Transcript: ENSMUST00000041190
AA Change: I412N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043901
Gene: ENSMUSG00000037570
AA Change: I412N

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 damaging
Transcript: ENSMUST00000163506
AA Change: I399N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131407
Gene: ENSMUSG00000037570
AA Change: I399N

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 noncoding transcript
Transcript: ENSMUST00000231020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230552
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,038,422 (GRCm39) L368Q probably damaging Het
Abca2 T A 2: 25,336,794 (GRCm39) probably null Het
Ano7 T A 1: 93,323,230 (GRCm39) V497D probably benign Het
B4gat1 T C 19: 5,090,037 (GRCm39) Y345H probably damaging Het
Bckdha T A 7: 25,358,132 (GRCm39) R12W possibly damaging Het
Bcl7c T A 7: 127,306,608 (GRCm39) N93Y probably damaging Het
Cc2d2a C A 5: 43,846,345 (GRCm39) T368K probably benign Het
Chek1 G A 9: 36,629,717 (GRCm39) Q210* probably null Het
Chrdl2 A G 7: 99,666,248 (GRCm39) Y56C probably damaging Het
Cspg4 T A 9: 56,805,872 (GRCm39) F2228I probably damaging Het
Dnah7a T C 1: 53,473,205 (GRCm39) M3474V probably benign Het
Dph7 T C 2: 24,855,629 (GRCm39) S143P possibly damaging Het
Ehbp1 T A 11: 22,039,636 (GRCm39) K821N probably damaging Het
Eomes T C 9: 118,313,898 (GRCm39) S648P probably benign Het
Fam20a A G 11: 109,573,738 (GRCm39) V215A probably damaging Het
Fer1l4 T A 2: 155,862,259 (GRCm39) probably null Het
Frem2 A G 3: 53,448,459 (GRCm39) V2319A probably benign Het
Gtf3c4 T C 2: 28,723,584 (GRCm39) D575G probably benign Het
Ifit1bl2 A G 19: 34,596,404 (GRCm39) V404A probably benign Het
Kcnf1 T C 12: 17,225,349 (GRCm39) M291V probably benign Het
Klra1 T A 6: 130,341,224 (GRCm39) I250F probably benign Het
Klra4 T A 6: 130,038,985 (GRCm39) T136S probably benign Het
Neo1 T C 9: 58,814,368 (GRCm39) E866G possibly damaging Het
Notch3 T C 17: 32,363,445 (GRCm39) D1206G probably damaging Het
Or10ab4 A G 7: 107,654,188 (GRCm39) probably benign Het
Or14c43 T A 7: 86,115,480 (GRCm39) I287N probably damaging Het
Or4z4 A C 19: 12,076,769 (GRCm39) V78G probably benign Het
Or5ae1 T A 7: 84,565,590 (GRCm39) V201E probably damaging Het
Or5b95 A C 19: 12,658,113 (GRCm39) I214L probably benign Het
Or6c210 A G 10: 129,495,995 (GRCm39) T107A probably benign Het
Pnkd A G 1: 74,390,716 (GRCm39) N336D probably damaging Het
Prag1 T C 8: 36,571,088 (GRCm39) V557A probably benign Het
Ptgfr A C 3: 151,541,323 (GRCm39) S62A probably benign Het
Smc2 A G 4: 52,450,842 (GRCm39) Y220C probably damaging Het
Sufu G A 19: 46,439,382 (GRCm39) E246K probably damaging Het
Sult2a1 T A 7: 13,566,604 (GRCm39) R124* probably null Het
Sult4a1 T A 15: 83,970,817 (GRCm39) Y196F possibly damaging Het
Trim15 G A 17: 37,175,975 (GRCm39) R191W probably damaging Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Usp16 T C 16: 87,263,164 (GRCm39) V122A possibly damaging Het
Vmn1r122 T A 7: 20,868,036 (GRCm39) K6N probably benign Het
Vmn1r34 G A 6: 66,613,899 (GRCm39) Q280* probably null Het
Vmn2r45 T A 7: 8,484,332 (GRCm39) H491L possibly damaging Het
Wdpcp T C 11: 21,661,949 (GRCm39) L407P probably damaging Het
Zfp157 T C 5: 138,445,840 (GRCm39) I65T probably benign Het
Other mutations in Mcrs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Mcrs1 APN 15 99,147,382 (GRCm39) missense probably damaging 1.00
IGL01975:Mcrs1 APN 15 99,141,559 (GRCm39) critical splice donor site probably null
PIT4651001:Mcrs1 UTSW 15 99,144,832 (GRCm39) missense probably damaging 1.00
R0125:Mcrs1 UTSW 15 99,142,608 (GRCm39) unclassified probably benign
R0520:Mcrs1 UTSW 15 99,146,336 (GRCm39) splice site probably null
R0744:Mcrs1 UTSW 15 99,141,330 (GRCm39) unclassified probably benign
R0833:Mcrs1 UTSW 15 99,141,330 (GRCm39) unclassified probably benign
R0836:Mcrs1 UTSW 15 99,141,330 (GRCm39) unclassified probably benign
R2099:Mcrs1 UTSW 15 99,147,827 (GRCm39) missense probably benign 0.00
R2133:Mcrs1 UTSW 15 99,141,256 (GRCm39) missense probably damaging 1.00
R4557:Mcrs1 UTSW 15 99,141,028 (GRCm39) missense probably benign 0.01
R5425:Mcrs1 UTSW 15 99,141,569 (GRCm39) missense probably damaging 1.00
R5517:Mcrs1 UTSW 15 99,144,876 (GRCm39) missense possibly damaging 0.88
R7129:Mcrs1 UTSW 15 99,146,609 (GRCm39) missense probably damaging 1.00
R8012:Mcrs1 UTSW 15 99,147,766 (GRCm39) missense probably damaging 1.00
R8015:Mcrs1 UTSW 15 99,146,735 (GRCm39) nonsense probably null
R8025:Mcrs1 UTSW 15 99,144,814 (GRCm39) nonsense probably null
R8171:Mcrs1 UTSW 15 99,146,613 (GRCm39) missense probably damaging 1.00
R8191:Mcrs1 UTSW 15 99,141,206 (GRCm39) missense probably damaging 1.00
R8420:Mcrs1 UTSW 15 99,141,575 (GRCm39) missense probably damaging 1.00
R8486:Mcrs1 UTSW 15 99,146,349 (GRCm39) nonsense probably null
R8777:Mcrs1 UTSW 15 99,141,237 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Mcrs1 UTSW 15 99,141,237 (GRCm39) missense probably damaging 1.00
R9626:Mcrs1 UTSW 15 99,146,353 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07