Incidental Mutation 'R5350:Gemin5'
ID 423764
Institutional Source Beutler Lab
Gene Symbol Gemin5
Ensembl Gene ENSMUSG00000037275
Gene Name gem nuclear organelle associated protein 5
Synonyms
MMRRC Submission 042929-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5350 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 58010828-58059365 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 58032412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035604] [ENSMUST00000035604] [ENSMUST00000102711] [ENSMUST00000102711] [ENSMUST00000172035] [ENSMUST00000172035]
AlphaFold Q8BX17
Predicted Effect probably null
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 null
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 null
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 probably null
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: ENSMUST00000134733
Predicted Effect probably null
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
Predicted Effect probably null
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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Abca9 A G 11: 110,006,364 (GRCm39) V1247A probably benign Het
Acaca A T 11: 84,106,699 (GRCm39) M133L probably damaging Het
Acacb C T 5: 114,382,612 (GRCm39) A2100V probably damaging Het
Adamts16 T A 13: 70,901,315 (GRCm39) K921* probably null Het
Ankrd55 T G 13: 112,472,760 (GRCm39) V144G probably damaging Het
Arap3 A G 18: 38,115,088 (GRCm39) L976P probably damaging Het
Atg2a T A 19: 6,301,368 (GRCm39) V814E probably damaging Het
Atp2b2 A T 6: 113,736,199 (GRCm39) M960K probably damaging Het
Bag1 C T 4: 40,948,007 (GRCm39) G66S possibly damaging Het
Bmp8a A T 4: 123,207,088 (GRCm39) M391K probably damaging Het
Capns1 C A 7: 29,889,551 (GRCm39) R216L probably damaging Het
Cdk13 T C 13: 17,978,515 (GRCm39) probably benign Het
Cmtm3 T C 8: 105,070,465 (GRCm39) F75L probably damaging Het
Cops4 T A 5: 100,666,405 (GRCm39) D21E possibly damaging Het
Dach1 G T 14: 98,207,395 (GRCm39) A318E probably damaging Het
Ddx27 A G 2: 166,869,780 (GRCm39) probably benign Het
Disp2 A G 2: 118,618,056 (GRCm39) T201A probably benign Het
Dnah2 G T 11: 69,406,862 (GRCm39) D214E possibly damaging Het
Dnah7b G T 1: 46,272,849 (GRCm39) G2326C probably benign Het
Dusp5 T C 19: 53,529,665 (GRCm39) F356S probably damaging Het
Duxf3 C A 10: 58,066,915 (GRCm39) S528I probably damaging Het
Ell T A 8: 70,992,439 (GRCm39) V28E probably damaging Het
Evi5 C T 5: 107,963,544 (GRCm39) D344N probably benign Het
Fv1 G T 4: 147,954,546 (GRCm39) V371L possibly damaging Het
Glce A T 9: 61,967,587 (GRCm39) Y521* probably null Het
Grn T A 11: 102,327,070 (GRCm39) L556Q possibly damaging Het
Icam1 C A 9: 20,939,182 (GRCm39) Y518* probably null Het
Jag2 A T 12: 112,872,542 (GRCm39) S1237R possibly damaging Het
Macf1 A T 4: 123,421,251 (GRCm39) M1K probably null Het
Nbea T C 3: 55,926,845 (GRCm39) E786G probably damaging Het
Nr4a2 A G 2: 57,001,877 (GRCm39) M192T probably damaging Het
Or2v2 T C 11: 49,003,879 (GRCm39) T225A probably benign Het
Or4a73 T A 2: 89,421,432 (GRCm39) E9V possibly damaging Het
Or52s1b T A 7: 102,822,766 (GRCm39) H26L probably damaging Het
Or7e169 A T 9: 19,757,912 (GRCm39) M1K probably null Het
Pcnx4 A C 12: 72,626,138 (GRCm39) N1115H probably damaging Het
Ppargc1b A G 18: 61,442,134 (GRCm39) S585P possibly damaging Het
Ppip5k2 C T 1: 97,648,853 (GRCm39) S1024N probably damaging Het
Prkar1b C T 5: 139,092,383 (GRCm39) E145K probably damaging Het
Psd3 T A 8: 68,361,513 (GRCm39) T539S probably benign Het
Rit2 A G 18: 31,449,905 (GRCm39) V31A probably damaging Het
Rps6kc1 G A 1: 190,531,663 (GRCm39) P780S probably benign Het
Serpina6 G T 12: 103,614,838 (GRCm39) T336K possibly damaging Het
Smo A T 6: 29,754,466 (GRCm39) Q232L probably benign Het
Stx2 T C 5: 129,068,155 (GRCm39) D184G probably damaging Het
Tmprss11d T C 5: 86,486,746 (GRCm39) Y48C probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F 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
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
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'- AGAGGCGTTTAGAGCTTTAACC -3'
(R):5'- CGACTCTCTCAATTTAAGCCAAAG -3'

Sequencing Primer
(F):5'- CTGGTTCCTTTTACAAAGAACCTGGG -3'
(R):5'- GTAAAGGAGAACTCTGGAC -3'
Posted On 2016-08-04