Incidental Mutation 'R1980:Gemin5'
ID 222175
Institutional Source Beutler Lab
Gene Symbol Gemin5
Ensembl Gene ENSMUSG00000037275
Gene Name gem nuclear organelle associated protein 5
Synonyms
MMRRC Submission 039992-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1980 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 58010828-58059365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58027743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 935 (L935P)
Ref Sequence ENSEMBL: ENSMUSP00000131842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035604] [ENSMUST00000102711] [ENSMUST00000172035]
AlphaFold Q8BX17
Predicted Effect probably damaging
Transcript: ENSMUST00000035604
AA Change: L935P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275
AA Change: L935P

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 damaging
Transcript: ENSMUST00000102711
AA Change: L934P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275
AA Change: L934P

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: ENSMUST00000134733
Predicted Effect probably damaging
Transcript: ENSMUST00000172035
AA Change: L935P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
AA Change: L935P

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.1%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A C 11: 100,386,702 (GRCm39) I620S possibly damaging Het
Acot8 A G 2: 164,636,964 (GRCm39) F262S probably damaging Het
Adgb C T 10: 10,309,242 (GRCm39) V246I probably benign Het
Akap9 T A 5: 4,022,771 (GRCm39) M1200K probably damaging Het
Alg11 T A 8: 22,551,903 (GRCm39) F16I possibly damaging Het
Apol7c A G 15: 77,410,244 (GRCm39) V234A probably benign Het
Arhgap19 T G 19: 41,776,784 (GRCm39) I122L possibly damaging Het
Arhgef37 A G 18: 61,641,767 (GRCm39) S201P probably damaging Het
Asgr1 A T 11: 69,945,772 (GRCm39) D16V probably damaging Het
Camta2 A T 11: 70,573,308 (GRCm39) C227S probably benign Het
Cd22 A T 7: 30,572,658 (GRCm39) L317Q probably damaging Het
Cenpf A T 1: 189,386,112 (GRCm39) I2056K probably benign Het
Cenpi T A X: 133,218,782 (GRCm39) F161L possibly damaging Het
Ciapin1 C T 8: 95,559,161 (GRCm39) V43I probably benign Het
Cox5b-ps T G 13: 21,685,294 (GRCm39) T99P possibly damaging Het
Dach1 A G 14: 98,068,777 (GRCm39) L601P probably damaging Het
Ddx11 T A 17: 66,455,734 (GRCm39) L711Q probably damaging Het
Dsg1a A T 18: 20,471,707 (GRCm39) N653I probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Galnt5 T C 2: 57,914,735 (GRCm39) probably null Het
Gm9507 A T 10: 77,647,519 (GRCm39) C53* probably null Het
Irgm2 A G 11: 58,110,902 (GRCm39) I198V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klf12 A C 14: 100,387,162 (GRCm39) probably null Het
Lpp C T 16: 24,480,451 (GRCm39) P73L probably damaging Het
Lrrc34 G A 3: 30,696,890 (GRCm39) H127Y probably benign Het
Lyar T C 5: 38,382,053 (GRCm39) S12P probably damaging Het
Maml3 A G 3: 52,011,473 (GRCm39) I31T unknown Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Minar2 T A 18: 59,208,739 (GRCm39) M129K probably damaging Het
Mysm1 A T 4: 94,840,450 (GRCm39) N655K probably benign Het
Npnt T C 3: 132,653,893 (GRCm39) I29M probably benign Het
Nrxn1 A G 17: 91,395,746 (GRCm39) W137R probably benign Het
Numb C T 12: 83,844,118 (GRCm39) probably null Het
Obsl1 A G 1: 75,482,480 (GRCm39) F130S probably damaging Het
Or2h1 T G 17: 37,404,295 (GRCm39) Q157P probably damaging Het
Or4k47 T A 2: 111,451,586 (GRCm39) I278F probably benign Het
Pbx4 T C 8: 70,322,776 (GRCm39) V294A probably benign Het
Pde4dip A C 3: 97,664,312 (GRCm39) L524R possibly damaging Het
Plppr1 G A 4: 49,337,655 (GRCm39) A319T probably benign Het
Ppid A T 3: 79,500,925 (GRCm39) I32F probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr27 A G 5: 87,991,261 (GRCm39) E291G probably benign Het
Psme4 A T 11: 30,782,615 (GRCm39) K923N possibly damaging Het
Rab25 T C 3: 88,450,765 (GRCm39) T45A probably damaging Het
Rapgef1 C T 2: 29,612,239 (GRCm39) P630S probably benign Het
Rasa2 T C 9: 96,452,821 (GRCm39) D355G probably damaging Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rtn4 A T 11: 29,658,634 (GRCm39) E929D probably benign Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Slk T G 19: 47,600,428 (GRCm39) I151S probably damaging Het
Spin1 T A 13: 51,298,506 (GRCm39) V175D probably damaging Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tmem151b G C 17: 45,856,387 (GRCm39) P351R possibly damaging Het
Tmod1 A C 4: 46,061,043 (GRCm39) Y10S probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm1 T C 7: 63,858,182 (GRCm39) Y225H possibly damaging Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Tyro3 A G 2: 119,639,298 (GRCm39) D335G probably benign Het
Unc79 C A 12: 102,977,538 (GRCm39) Y180* probably null Het
Upp1 A T 11: 9,084,872 (GRCm39) D197V possibly damaging Het
Vmn1r226 T A 17: 20,908,308 (GRCm39) M180K possibly damaging Het
Vtn T A 11: 78,392,724 (GRCm39) I434N probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp819 A G 7: 43,265,885 (GRCm39) T47A probably benign Het
Zyg11b G A 4: 108,123,127 (GRCm39) T280I probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CAAGTGCTGCCAAGTCATCTC -3'
(R):5'- AAAGTCATTCTGGTGGTAGCATC -3'

Sequencing Primer
(F):5'- GCCAAGTCATCTCTCTATTTTTGG -3'
(R):5'- TCCTCATCAGGAAGTGACTGGATAC -3'
Posted On 2014-08-25