Incidental Mutation 'IGL02823:Gemin5'
ID 361109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gemin5
Ensembl Gene ENSMUSG00000037275
Gene Name gem nuclear organelle associated protein 5
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02823
Quality Score
Status
Chromosome 11
Chromosomal Location 58010828-58059365 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 58058531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020820] [ENSMUST00000035604] [ENSMUST00000102711] [ENSMUST00000172035]
AlphaFold Q8BX17
Predicted Effect probably benign
Transcript: ENSMUST00000020820
SMART Domains Protein: ENSMUSP00000020820
Gene: ENSMUSG00000020514

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Ribosomal_L22 70 173 6.8e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035604
SMART Domains Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275

DomainStartEndE-ValueType
WD40 53 95 1.47e-6 SMART
WD40 98 138 6.19e-1 SMART
WD40 141 180 1.54e0 SMART
WD40 184 255 2.45e-8 SMART
WD40 280 312 1.42e2 SMART
WD40 316 365 1.99e0 SMART
WD40 368 408 5.15e-2 SMART
WD40 415 455 8.49e-3 SMART
WD40 460 511 8.84e1 SMART
WD40 529 564 4.28e0 SMART
WD40 567 613 2.24e-2 SMART
WD40 628 668 2.2e-10 SMART
WD40 671 711 2.31e-4 SMART
low complexity region 731 754 N/A INTRINSIC
low complexity region 788 804 N/A INTRINSIC
low complexity region 813 844 N/A INTRINSIC
low complexity region 1064 1084 N/A INTRINSIC
low complexity region 1117 1132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102711
SMART Domains Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275

DomainStartEndE-ValueType
WD40 53 95 1.47e-6 SMART
WD40 98 138 6.19e-1 SMART
WD40 141 180 1.54e0 SMART
WD40 184 255 2.45e-8 SMART
WD40 280 312 1.42e2 SMART
WD40 316 365 1.99e0 SMART
WD40 368 408 5.15e-2 SMART
WD40 415 455 8.49e-3 SMART
WD40 460 511 8.84e1 SMART
WD40 529 564 4.28e0 SMART
WD40 567 613 2.24e-2 SMART
WD40 628 668 2.2e-10 SMART
WD40 671 711 2.31e-4 SMART
low complexity region 731 754 N/A INTRINSIC
low complexity region 788 804 N/A INTRINSIC
low complexity region 813 844 N/A INTRINSIC
low complexity region 1063 1083 N/A INTRINSIC
low complexity region 1116 1131 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140997
Predicted Effect probably benign
Transcript: ENSMUST00000172035
SMART Domains Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275

DomainStartEndE-ValueType
WD40 53 95 1.47e-6 SMART
WD40 98 138 6.19e-1 SMART
WD40 141 180 1.54e0 SMART
WD40 184 255 2.45e-8 SMART
WD40 280 312 1.42e2 SMART
WD40 316 365 1.99e0 SMART
WD40 368 408 5.15e-2 SMART
WD40 415 455 8.49e-3 SMART
WD40 460 511 8.84e1 SMART
WD40 529 564 4.28e0 SMART
WD40 567 613 2.24e-2 SMART
WD40 628 668 2.2e-10 SMART
WD40 671 711 2.31e-4 SMART
low complexity region 731 754 N/A INTRINSIC
low complexity region 788 804 N/A INTRINSIC
low complexity region 813 844 N/A INTRINSIC
low complexity region 1064 1084 N/A INTRINSIC
low complexity region 1117 1132 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,410,074 (GRCm39) S194P probably damaging Het
Abca7 T A 10: 79,844,656 (GRCm39) D1488E probably damaging Het
Abhd18 A G 3: 40,887,953 (GRCm39) probably benign Het
Atp6ap1l A G 13: 91,047,644 (GRCm39) V56A probably benign Het
Atrip A G 9: 108,890,246 (GRCm39) Y631H probably damaging Het
C9orf72 A T 4: 35,213,031 (GRCm39) C215S probably damaging Het
Dst A T 1: 34,231,164 (GRCm39) H3097L possibly damaging Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
Eif2a G T 3: 58,456,092 (GRCm39) A364S probably benign Het
Eps8l2 A T 7: 140,921,988 (GRCm39) D22V probably damaging Het
Fndc7 A G 3: 108,776,487 (GRCm39) F432S probably damaging Het
Grxcr2 T C 18: 42,125,046 (GRCm39) K121E probably damaging Het
Gucy1a2 T C 9: 3,894,656 (GRCm39) I713T possibly damaging Het
Hs3st1 A G 5: 39,772,100 (GRCm39) L181P probably damaging Het
Ksr1 C A 11: 78,912,229 (GRCm39) V627L probably benign Het
Lama2 T C 10: 26,877,141 (GRCm39) N2682D probably damaging Het
Lratd2 T C 15: 60,694,972 (GRCm39) D258G probably damaging Het
Map3k19 G T 1: 127,750,001 (GRCm39) H1117N probably benign Het
Mdc1 C T 17: 36,163,815 (GRCm39) A1121V probably damaging Het
Nlrp1a C T 11: 70,983,249 (GRCm39) S1239N probably damaging Het
Or2w3 T C 11: 58,556,793 (GRCm39) M136T possibly damaging Het
Prkra G T 2: 76,460,768 (GRCm39) A310E probably damaging Het
Prl2c1 T C 13: 28,040,416 (GRCm39) probably benign Het
Prl7a2 T C 13: 27,846,734 (GRCm39) Y93C possibly damaging Het
Prob1 A T 18: 35,785,800 (GRCm39) V818E possibly damaging Het
Rbbp8 A G 18: 11,865,270 (GRCm39) S720G possibly damaging Het
Rexo4 T C 2: 26,852,489 (GRCm39) T149A probably benign Het
Slc39a2 T A 14: 52,132,869 (GRCm39) Y271N probably damaging Het
Sprr2d T A 3: 92,247,734 (GRCm39) C58* probably null Het
Srebf2 G A 15: 82,083,975 (GRCm39) G965D possibly damaging Het
Tcof1 T C 18: 60,949,120 (GRCm39) E1265G probably benign Het
Terf2 T C 8: 107,799,257 (GRCm39) N389S possibly damaging Het
Vsig10l T C 7: 43,115,888 (GRCm39) S410P probably damaging Het
Vwa3b A T 1: 37,225,985 (GRCm39) probably benign Het
Other mutations in Gemin5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Gemin5 APN 11 58,054,643 (GRCm39) missense probably damaging 1.00
IGL00540:Gemin5 APN 11 58,051,644 (GRCm39) missense probably damaging 1.00
IGL01521:Gemin5 APN 11 58,025,744 (GRCm39) splice site probably benign
IGL02190:Gemin5 APN 11 58,025,668 (GRCm39) missense probably damaging 1.00
IGL02274:Gemin5 APN 11 58,047,621 (GRCm39) missense possibly damaging 0.80
IGL02494:Gemin5 APN 11 58,012,583 (GRCm39) missense probably benign 0.12
IGL02549:Gemin5 APN 11 58,025,629 (GRCm39) missense probably damaging 1.00
IGL02740:Gemin5 APN 11 58,042,390 (GRCm39) missense probably damaging 1.00
IGL02815:Gemin5 APN 11 58,037,235 (GRCm39) missense probably damaging 1.00
IGL02939:Gemin5 APN 11 58,047,556 (GRCm39) missense probably damaging 1.00
Landscape UTSW 11 58,054,730 (GRCm39) missense probably benign 0.16
R0101:Gemin5 UTSW 11 58,036,322 (GRCm39) missense probably damaging 1.00
R0479:Gemin5 UTSW 11 58,030,377 (GRCm39) missense probably benign 0.00
R1481:Gemin5 UTSW 11 58,032,480 (GRCm39) missense probably damaging 1.00
R1642:Gemin5 UTSW 11 58,029,906 (GRCm39) missense probably damaging 1.00
R1648:Gemin5 UTSW 11 58,038,805 (GRCm39) nonsense probably null
R1980:Gemin5 UTSW 11 58,027,743 (GRCm39) missense probably damaging 1.00
R3079:Gemin5 UTSW 11 58,036,345 (GRCm39) missense probably damaging 1.00
R3418:Gemin5 UTSW 11 58,047,454 (GRCm39) splice site probably null
R4260:Gemin5 UTSW 11 58,059,185 (GRCm39) missense probably damaging 0.99
R4396:Gemin5 UTSW 11 58,030,375 (GRCm39) missense probably benign 0.05
R4902:Gemin5 UTSW 11 58,055,103 (GRCm39) missense probably benign 0.18
R5178:Gemin5 UTSW 11 58,037,344 (GRCm39) missense probably benign 0.01
R5296:Gemin5 UTSW 11 58,020,887 (GRCm39) missense probably damaging 1.00
R5350:Gemin5 UTSW 11 58,032,412 (GRCm39) critical splice donor site probably null
R5426:Gemin5 UTSW 11 58,016,113 (GRCm39) missense probably benign 0.00
R5494:Gemin5 UTSW 11 58,021,526 (GRCm39) missense probably damaging 1.00
R5744:Gemin5 UTSW 11 58,046,009 (GRCm39) missense possibly damaging 0.88
R5889:Gemin5 UTSW 11 58,013,181 (GRCm39) missense possibly damaging 0.76
R5984:Gemin5 UTSW 11 58,047,587 (GRCm39) missense probably damaging 1.00
R6844:Gemin5 UTSW 11 58,054,730 (GRCm39) missense probably benign 0.16
R6934:Gemin5 UTSW 11 58,038,738 (GRCm39) missense probably damaging 1.00
R6999:Gemin5 UTSW 11 58,015,947 (GRCm39) missense probably benign 0.00
R7015:Gemin5 UTSW 11 58,047,566 (GRCm39) missense probably damaging 1.00
R7144:Gemin5 UTSW 11 58,032,489 (GRCm39) missense probably benign 0.30
R7176:Gemin5 UTSW 11 58,056,828 (GRCm39) missense probably benign 0.05
R7540:Gemin5 UTSW 11 58,021,228 (GRCm39) splice site probably null
R7670:Gemin5 UTSW 11 58,038,754 (GRCm39) missense probably benign 0.01
R7717:Gemin5 UTSW 11 58,042,356 (GRCm39) critical splice donor site probably null
R7791:Gemin5 UTSW 11 58,015,819 (GRCm39) missense probably benign 0.04
R7981:Gemin5 UTSW 11 58,036,231 (GRCm39) missense probably damaging 1.00
R8050:Gemin5 UTSW 11 58,019,686 (GRCm39) missense probably benign 0.00
R8307:Gemin5 UTSW 11 58,042,420 (GRCm39) missense probably damaging 1.00
R8353:Gemin5 UTSW 11 58,016,065 (GRCm39) missense probably benign 0.00
R8371:Gemin5 UTSW 11 58,017,384 (GRCm39) missense probably benign
R8453:Gemin5 UTSW 11 58,016,065 (GRCm39) missense probably benign 0.00
R9181:Gemin5 UTSW 11 58,021,035 (GRCm39) missense probably benign 0.00
R9294:Gemin5 UTSW 11 58,028,574 (GRCm39) missense probably benign 0.08
R9400:Gemin5 UTSW 11 58,028,541 (GRCm39) missense probably damaging 1.00
R9672:Gemin5 UTSW 11 58,058,585 (GRCm39) missense probably benign 0.00
R9722:Gemin5 UTSW 11 58,041,418 (GRCm39) missense probably damaging 1.00
R9790:Gemin5 UTSW 11 58,020,846 (GRCm39) nonsense probably null
R9791:Gemin5 UTSW 11 58,020,846 (GRCm39) nonsense probably null
X0066:Gemin5 UTSW 11 58,042,361 (GRCm39) missense probably benign 0.02
Z1186:Gemin5 UTSW 11 58,016,044 (GRCm39) missense probably benign 0.00
Z1186:Gemin5 UTSW 11 58,013,115 (GRCm39) missense probably benign 0.03
Z1186:Gemin5 UTSW 11 58,037,345 (GRCm39) missense probably benign 0.03
Z1186:Gemin5 UTSW 11 58,030,401 (GRCm39) missense probably benign
Z1186:Gemin5 UTSW 11 58,030,336 (GRCm39) missense probably benign
Z1186:Gemin5 UTSW 11 58,020,897 (GRCm39) missense probably benign
Z1187:Gemin5 UTSW 11 58,013,115 (GRCm39) missense probably benign 0.03
Z1187:Gemin5 UTSW 11 58,037,345 (GRCm39) missense probably benign 0.03
Z1187:Gemin5 UTSW 11 58,030,401 (GRCm39) missense probably benign
Z1187:Gemin5 UTSW 11 58,030,336 (GRCm39) missense probably benign
Z1187:Gemin5 UTSW 11 58,020,897 (GRCm39) missense probably benign
Z1187:Gemin5 UTSW 11 58,016,044 (GRCm39) missense probably benign 0.00
Z1188:Gemin5 UTSW 11 58,020,897 (GRCm39) missense probably benign
Z1188:Gemin5 UTSW 11 58,030,336 (GRCm39) missense probably benign
Z1188:Gemin5 UTSW 11 58,030,401 (GRCm39) missense probably benign
Z1188:Gemin5 UTSW 11 58,037,345 (GRCm39) missense probably benign 0.03
Z1188:Gemin5 UTSW 11 58,013,115 (GRCm39) missense probably benign 0.03
Z1188:Gemin5 UTSW 11 58,016,044 (GRCm39) missense probably benign 0.00
Z1189:Gemin5 UTSW 11 58,016,044 (GRCm39) missense probably benign 0.00
Z1189:Gemin5 UTSW 11 58,013,115 (GRCm39) missense probably benign 0.03
Z1189:Gemin5 UTSW 11 58,037,345 (GRCm39) missense probably benign 0.03
Z1189:Gemin5 UTSW 11 58,030,401 (GRCm39) missense probably benign
Z1189:Gemin5 UTSW 11 58,030,336 (GRCm39) missense probably benign
Z1189:Gemin5 UTSW 11 58,020,897 (GRCm39) missense probably benign
Z1190:Gemin5 UTSW 11 58,016,044 (GRCm39) missense probably benign 0.00
Z1190:Gemin5 UTSW 11 58,013,115 (GRCm39) missense probably benign 0.03
Z1190:Gemin5 UTSW 11 58,037,345 (GRCm39) missense probably benign 0.03
Z1190:Gemin5 UTSW 11 58,030,401 (GRCm39) missense probably benign
Z1190:Gemin5 UTSW 11 58,030,336 (GRCm39) missense probably benign
Z1190:Gemin5 UTSW 11 58,020,897 (GRCm39) missense probably benign
Z1191:Gemin5 UTSW 11 58,016,044 (GRCm39) missense probably benign 0.00
Z1191:Gemin5 UTSW 11 58,013,115 (GRCm39) missense probably benign 0.03
Z1191:Gemin5 UTSW 11 58,037,345 (GRCm39) missense probably benign 0.03
Z1191:Gemin5 UTSW 11 58,030,401 (GRCm39) missense probably benign
Z1191:Gemin5 UTSW 11 58,030,336 (GRCm39) missense probably benign
Z1191:Gemin5 UTSW 11 58,020,897 (GRCm39) missense probably benign
Z1192:Gemin5 UTSW 11 58,016,044 (GRCm39) missense probably benign 0.00
Z1192:Gemin5 UTSW 11 58,013,115 (GRCm39) missense probably benign 0.03
Z1192:Gemin5 UTSW 11 58,037,345 (GRCm39) missense probably benign 0.03
Z1192:Gemin5 UTSW 11 58,030,401 (GRCm39) missense probably benign
Z1192:Gemin5 UTSW 11 58,030,336 (GRCm39) missense probably benign
Z1192:Gemin5 UTSW 11 58,020,897 (GRCm39) missense probably benign
Posted On 2015-12-18