Incidental Mutation 'R5889:Gemin5'
ID 456232
Institutional Source Beutler Lab
Gene Symbol Gemin5
Ensembl Gene ENSMUSG00000037275
Gene Name gem nuclear organelle associated protein 5
Synonyms
MMRRC Submission 044090-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5889 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 58010828-58059365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58013181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1422 (V1422A)
Ref Sequence ENSEMBL: ENSMUSP00000099772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020822] [ENSMUST00000035604] [ENSMUST00000102711] [ENSMUST00000108843] [ENSMUST00000172035]
AlphaFold Q8BX17
Predicted Effect probably benign
Transcript: ENSMUST00000020822
SMART Domains Protein: ENSMUSP00000020822
Gene: ENSMUSG00000020515

DomainStartEndE-ValueType
Pfam:CAF1 15 139 4.3e-15 PFAM
Pfam:CAF1 138 238 1.4e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000035604
AA Change: V1423A

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275
AA Change: V1423A

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 possibly damaging
Transcript: ENSMUST00000102711
AA Change: V1422A

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275
AA Change: V1422A

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: ENSMUST00000108843
SMART Domains Protein: ENSMUSP00000104471
Gene: ENSMUSG00000020515

DomainStartEndE-ValueType
Pfam:CAF1 13 240 1.3e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129126
Predicted Effect probably benign
Transcript: ENSMUST00000172035
AA Change: V1424A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
AA Change: V1424A

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 100% (63/63)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,244,461 (GRCm39) E297G probably damaging Het
Astn1 C T 1: 158,427,950 (GRCm39) P707L possibly damaging Het
Cep290 T C 10: 100,334,936 (GRCm39) S319P possibly damaging Het
Chrna4 A C 2: 180,670,451 (GRCm39) L435W probably damaging Het
Cilp C A 9: 65,187,625 (GRCm39) A1240D possibly damaging Het
Col17a1 A G 19: 47,637,511 (GRCm39) F1249S possibly damaging Het
Creb3l3 T C 10: 80,928,367 (GRCm39) probably benign Het
Cyp4f40 C A 17: 32,894,731 (GRCm39) T432N probably benign Het
Dsg1c T G 18: 20,416,658 (GRCm39) I853R possibly damaging Het
Ebna1bp2 T A 4: 118,478,620 (GRCm39) D34E probably damaging Het
Edc4 C T 8: 106,614,654 (GRCm39) T112I possibly damaging Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Exoc6 A G 19: 37,570,693 (GRCm39) H291R probably damaging Het
Fbln5 G T 12: 101,731,485 (GRCm39) N236K probably damaging Het
Fndc8 A T 11: 82,789,555 (GRCm39) T238S probably damaging Het
Frem3 T C 8: 81,340,917 (GRCm39) V1070A probably damaging Het
Gabra4 A T 5: 71,729,234 (GRCm39) N515K possibly damaging Het
Gm10118 A G 10: 63,762,890 (GRCm39) probably benign Het
Grm5 A G 7: 87,252,281 (GRCm39) D177G probably damaging Het
Gtf2h4 G A 17: 35,981,792 (GRCm39) P147L possibly damaging Het
Hgsnat T C 8: 26,453,395 (GRCm39) D265G probably damaging Het
Hsd17b4 T A 18: 50,310,276 (GRCm39) L513Q probably damaging Het
Hsd17b7 A T 1: 169,783,487 (GRCm39) M307K probably benign Het
Hspa5 T C 2: 34,664,629 (GRCm39) V361A probably damaging Het
Iqgap2 A G 13: 95,768,550 (GRCm39) V1450A probably benign Het
Itpr3 A G 17: 27,334,039 (GRCm39) E2037G probably damaging Het
Itprid2 T A 2: 79,488,072 (GRCm39) D718E probably damaging Het
Lama5 T C 2: 179,835,467 (GRCm39) probably benign Het
Manba G T 3: 135,230,359 (GRCm39) G311* probably null Het
Mettl24 T A 10: 40,622,486 (GRCm39) V236E probably benign Het
Myh3 A G 11: 66,977,201 (GRCm39) D310G probably damaging Het
Ncoa4 A T 14: 31,888,616 (GRCm39) probably benign Het
Nop56 G T 2: 130,117,902 (GRCm39) R126L probably damaging Het
Nos3 C A 5: 24,573,775 (GRCm39) probably benign Het
Or13c7b T C 4: 43,820,492 (GRCm39) M290V possibly damaging Het
Pcdhga3 T A 18: 37,809,662 (GRCm39) V705D probably damaging Het
Prom2 C T 2: 127,371,331 (GRCm39) A776T possibly damaging Het
Prss48 A G 3: 85,905,492 (GRCm39) I127T probably damaging Het
Rtca T C 3: 116,293,232 (GRCm39) Y193C possibly damaging Het
Samd9l T C 6: 3,376,460 (GRCm39) Y267C probably damaging Het
Scube3 A G 17: 28,379,887 (GRCm39) R272G possibly damaging Het
Sprr1a G T 3: 92,391,951 (GRCm39) H17N probably benign Het
Stard3 G C 11: 98,266,361 (GRCm39) Q120H probably benign Het
Supt6 A G 11: 78,103,574 (GRCm39) I1377T probably damaging Het
Svop A T 5: 114,203,692 (GRCm39) S30T probably benign Het
Syne2 T A 12: 76,119,026 (GRCm39) L5882* probably null Het
Tanc2 G T 11: 105,812,633 (GRCm39) R1359L probably benign Het
Tmc7 A C 7: 118,165,549 (GRCm39) L55R probably benign Het
Trappc11 G A 8: 47,972,613 (GRCm39) A320V probably benign Het
Ttll8 G C 15: 88,818,142 (GRCm39) P178A probably damaging Het
Ttn T C 2: 76,560,993 (GRCm39) E20809G probably damaging Het
Tubb2a A T 13: 34,259,451 (GRCm39) V113E possibly damaging Het
Ube2d1 A T 10: 71,095,699 (GRCm39) probably benign Het
Usp48 T C 4: 137,343,723 (GRCm39) V452A probably benign Het
Vldlr T A 19: 27,217,064 (GRCm39) I39N probably damaging Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Zyg11b C T 4: 108,094,577 (GRCm39) W669* 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
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'- TTCATAAATCACTTTAGGGAAGCAG -3'
(R):5'- CCATGACTGCACAATTAGACATAAAGT -3'

Sequencing Primer
(F):5'- CTCCCGAGTGCTGGGATTAAAG -3'
(R):5'- CATTAAGACAGTTGTGAGCTGGCC -3'
Posted On 2017-02-15