Incidental Mutation 'R8353:Gemin5'
ID 645631
Institutional Source Beutler Lab
Gene Symbol Gemin5
Ensembl Gene ENSMUSG00000037275
Gene Name gem nuclear organelle associated protein 5
Synonyms
MMRRC Submission 067805-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8353 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 58010828-58059365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58016065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 1314 (S1314G)
Ref Sequence ENSEMBL: ENSMUSP00000131842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035604] [ENSMUST00000102711] [ENSMUST00000172035]
AlphaFold Q8BX17
Predicted Effect probably benign
Transcript: ENSMUST00000035604
AA Change: S1314G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275
AA Change: S1314G

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
AA Change: S1313G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275
AA Change: S1313G

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 probably benign
Transcript: ENSMUST00000172035
AA Change: S1314G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
AA Change: S1314G

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik G T 9: 101,815,884 (GRCm39) C23F possibly damaging Het
Adam29 T C 8: 56,326,196 (GRCm39) H86R possibly damaging Het
Alas1 C T 9: 106,113,721 (GRCm39) R508Q possibly damaging Het
Albfm1 A T 5: 90,714,360 (GRCm39) R123S possibly damaging Het
Ark2n T C 18: 77,761,604 (GRCm39) E236G probably damaging Het
Bmp3 G A 5: 99,003,282 (GRCm39) probably null Het
Bud13 A G 9: 46,199,499 (GRCm39) T287A probably benign Het
C3 T C 17: 57,519,643 (GRCm39) E1203G probably benign Het
Carmil2 A C 8: 106,416,843 (GRCm39) Q476P probably damaging Het
Ccdc187 T A 2: 26,166,458 (GRCm39) T707S probably damaging Het
Cfap43 A T 19: 47,735,086 (GRCm39) V1435E probably damaging Het
Chrm3 A T 13: 9,927,267 (GRCm39) *590K probably null Het
Commd1 C T 11: 22,928,503 (GRCm39) probably benign Het
Creb3l1 A T 2: 91,821,274 (GRCm39) Y314* probably null Het
Ctc1 T A 11: 68,913,275 (GRCm39) S90R probably benign Het
Dixdc1 T C 9: 50,596,186 (GRCm39) Q413R probably benign Het
Dlg5 T C 14: 24,208,213 (GRCm39) T998A probably benign Het
Dnai4 A G 4: 102,917,113 (GRCm39) I577T possibly damaging Het
Eif1ad14 C T 12: 87,886,323 (GRCm39) S102N probably benign Het
Fam89b A G 19: 5,778,903 (GRCm39) S99P possibly damaging Het
Fbxo30 A G 10: 11,166,479 (GRCm39) I400M probably benign Het
Gad1 A T 2: 70,431,057 (GRCm39) M567L probably benign Het
Gm9195 T G 14: 72,678,201 (GRCm39) I2323L probably benign Het
Gria1 T A 11: 57,133,877 (GRCm39) F585L probably damaging Het
Hbs1l A T 10: 21,185,178 (GRCm39) H200L probably benign Het
Igsf5 A G 16: 96,222,996 (GRCm39) Q360R probably benign Het
Il31ra A T 13: 112,660,717 (GRCm39) V624E probably damaging Het
Iqsec3 T C 6: 121,364,779 (GRCm39) R837G probably damaging Het
Itprid2 T C 2: 79,475,129 (GRCm39) S363P probably benign Het
Lpl A G 8: 69,348,433 (GRCm39) I221V probably damaging Het
Mink1 T A 11: 70,501,154 (GRCm39) D887E possibly damaging Het
Mmp10 T G 9: 7,508,203 (GRCm39) F443C probably damaging Het
Mmrn1 T A 6: 60,965,361 (GRCm39) Y1131N probably damaging Het
Mrc2 T A 11: 105,223,137 (GRCm39) V460E probably damaging Het
Nicn1 T A 9: 108,170,572 (GRCm39) F57Y probably damaging Het
Nlrp4b A G 7: 10,449,528 (GRCm39) Y577C probably damaging Het
Nrap T C 19: 56,312,352 (GRCm39) T1535A probably damaging Het
Opa1 G A 16: 29,439,686 (GRCm39) R755H probably damaging Het
Phldb2 A G 16: 45,645,385 (GRCm39) S354P probably benign Het
Phykpl T C 11: 51,489,121 (GRCm39) S316P probably damaging Het
Pnpla1 T A 17: 29,077,873 (GRCm39) D11E probably benign Het
Pold2 A G 11: 5,825,104 (GRCm39) F98L probably damaging Het
Prph G A 15: 98,954,657 (GRCm39) R241Q probably benign Het
Rcl1 T C 19: 29,093,159 (GRCm39) I58T possibly damaging Het
Rps6ka2 A G 17: 7,514,151 (GRCm39) N117D probably benign Het
Sars1 G A 3: 108,336,029 (GRCm39) S331L probably benign Het
Scfd1 A C 12: 51,459,374 (GRCm39) K312Q possibly damaging Het
Senp5 A G 16: 31,808,166 (GRCm39) C363R probably benign Het
Senp7 A G 16: 56,008,691 (GRCm39) I1024V probably damaging Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sptbn4 A G 7: 27,103,663 (GRCm39) L1191P probably damaging Het
Stk40 A G 4: 126,022,766 (GRCm39) E180G probably damaging Het
Stxbp5 A T 10: 9,684,792 (GRCm39) V536E probably benign Het
Tex15 G T 8: 34,066,899 (GRCm39) E2110* probably null Het
Thbs4 G A 13: 92,927,325 (GRCm39) P55S probably benign Het
Tmem115 T C 9: 107,411,997 (GRCm39) V107A probably benign Het
Tnfaip6 A C 2: 51,945,879 (GRCm39) I242L probably benign Het
Trabd G T 15: 88,969,616 (GRCm39) A270S possibly damaging Het
Trim30d T A 7: 104,136,947 (GRCm39) I86F probably damaging Het
Trpc7 A G 13: 56,970,372 (GRCm39) V404A probably benign Het
Vmn1r61 A G 7: 5,613,886 (GRCm39) Y143H probably benign Het
Vmn2r18 T A 5: 151,485,373 (GRCm39) D707V probably damaging Het
Vnn3 G A 10: 23,745,443 (GRCm39) R464H probably benign Het
Wdr27 T C 17: 15,112,751 (GRCm39) T652A probably benign Het
Yeats2 C T 16: 20,041,637 (GRCm39) R1176* probably null 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
IGL02823:Gemin5 APN 11 58,058,531 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ATCTCTGCTGGGACCATTTG -3'
(R):5'- ACCTACGAGACAAACTGGGTG -3'

Sequencing Primer
(F):5'- TGGCCTTGCAGAGCTGACTC -3'
(R):5'- GGTGACCTCTCTCCTGCCATG -3'
Posted On 2020-09-02