Incidental Mutation 'PIT4377001:Gemin7'
ID 554920
Institutional Source Beutler Lab
Gene Symbol Gemin7
Ensembl Gene ENSMUSG00000044709
Gene Name gem nuclear organelle associated protein 7
Synonyms 2400008I04Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # PIT4377001 (G1)
Quality Score 218.009
Status Not validated
Chromosome 7
Chromosomal Location 19298874-19307268 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 19299242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 118 (R118*)
Ref Sequence ENSEMBL: ENSMUSP00000055844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051364] [ENSMUST00000058444] [ENSMUST00000117222] [ENSMUST00000119912] [ENSMUST00000122055] [ENSMUST00000122127] [ENSMUST00000151646] [ENSMUST00000208826]
AlphaFold Q9CWY4
Predicted Effect probably null
Transcript: ENSMUST00000051364
AA Change: R118*
SMART Domains Protein: ENSMUSP00000055844
Gene: ENSMUSG00000044709
AA Change: R118*

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
Pfam:Gemin7 50 129 1.9e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058444
SMART Domains Protein: ENSMUSP00000060233
Gene: ENSMUSG00000051403

DomainStartEndE-ValueType
low complexity region 7 38 N/A INTRINSIC
Blast:LRR 139 166 1e-9 BLAST
LRR 224 251 1.77e2 SMART
LRR 252 280 3.52e-1 SMART
LRR 281 308 8.27e-7 SMART
LRR 310 337 3.05e1 SMART
LRR 338 365 1.4e-4 SMART
LRR 366 393 1.56e-2 SMART
LRR 394 421 2.36e-2 SMART
low complexity region 504 540 N/A INTRINSIC
low complexity region 566 574 N/A INTRINSIC
low complexity region 596 628 N/A INTRINSIC
low complexity region 660 679 N/A INTRINSIC
low complexity region 696 702 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117222
AA Change: R118*
SMART Domains Protein: ENSMUSP00000113266
Gene: ENSMUSG00000044709
AA Change: R118*

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
Pfam:Gemin7 50 129 1.9e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119912
AA Change: R118*
SMART Domains Protein: ENSMUSP00000112742
Gene: ENSMUSG00000044709
AA Change: R118*

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
Pfam:Gemin7 50 129 1.9e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000122055
AA Change: R118*
SMART Domains Protein: ENSMUSP00000113583
Gene: ENSMUSG00000044709
AA Change: R118*

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
Pfam:Gemin7 50 129 1.9e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000122127
AA Change: R118*
SMART Domains Protein: ENSMUSP00000113709
Gene: ENSMUSG00000044709
AA Change: R118*

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
Pfam:Gemin7 50 129 1.9e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151646
SMART Domains Protein: ENSMUSP00000116207
Gene: ENSMUSG00000044709

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
Pfam:Gemin7 50 81 7e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208826
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.8%
  • 10x: 85.9%
  • 20x: 75.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik T C 4: 39,451,129 (GRCm39) C112R possibly damaging Het
Acadl G A 1: 66,877,564 (GRCm39) T329M probably damaging Het
Adgrv1 A G 13: 81,677,104 (GRCm39) L1909P probably damaging Het
Aff3 A C 1: 38,578,044 (GRCm39) V31G probably damaging Het
Bag3 A G 7: 128,147,441 (GRCm39) D352G probably damaging Het
Bcas3 A T 11: 85,386,668 (GRCm39) T368S probably damaging Het
Bmp3 A G 5: 99,027,608 (GRCm39) I434V unknown Het
Casq1 T A 1: 172,039,568 (GRCm39) T336S probably benign Het
Cib2 T G 9: 54,467,271 (GRCm39) E11A probably damaging Het
Cttn C A 7: 143,993,833 (GRCm39) E393D possibly damaging Het
Dchs1 G A 7: 105,406,795 (GRCm39) R2237W probably damaging Het
Dclre1a C T 19: 56,532,837 (GRCm39) A586T probably benign Het
Defb1 C A 8: 22,266,716 (GRCm39) Q17K possibly damaging Het
Dgat2 T C 7: 98,806,342 (GRCm39) Y285C probably damaging Het
Dhx57 A T 17: 80,571,404 (GRCm39) F732Y probably damaging Het
Dock2 T G 11: 34,611,835 (GRCm39) D176A probably benign Het
Epha6 A G 16: 60,025,915 (GRCm39) I509T probably damaging Het
Fblim1 C T 4: 141,322,720 (GRCm39) R21H probably damaging Het
Fbxw20 T A 9: 109,050,795 (GRCm39) H371L probably benign Het
Foxa1 T A 12: 57,589,567 (GRCm39) I218F probably damaging Het
Fstl1 A T 16: 37,636,167 (GRCm39) I53F probably benign Het
Gdnf A G 15: 7,864,011 (GRCm39) R141G probably benign Het
Gm43218 T C 6: 70,217,565 (GRCm39) T64A probably benign Het
Gnat3 G A 5: 18,220,557 (GRCm39) M243I Het
Gramd1a A T 7: 30,843,095 (GRCm39) I71N possibly damaging Het
H4c12 C G 13: 21,934,654 (GRCm39) G8R unknown Het
Htt A T 5: 35,033,309 (GRCm39) D1859V probably benign Het
Hyal1 T C 9: 107,456,468 (GRCm39) F415S probably damaging Het
Ighv1-47 T C 12: 114,954,858 (GRCm39) N74S probably benign Het
Igkv1-131 T C 6: 67,743,192 (GRCm39) R64G probably benign Het
Itgb1 T A 8: 129,436,864 (GRCm39) V95D probably damaging Het
Jak1 A C 4: 101,036,748 (GRCm39) N297K probably benign Het
Kcna4 T A 2: 107,127,205 (GRCm39) N646K possibly damaging Het
Krt42 A G 11: 100,153,931 (GRCm39) S442P probably damaging Het
Mcm3ap G A 10: 76,338,596 (GRCm39) S1408N possibly damaging Het
Mdga2 T A 12: 66,763,469 (GRCm39) Q278L probably damaging Het
Mkln1 C T 6: 31,451,289 (GRCm39) T410M probably damaging Het
Nav3 T C 10: 109,552,466 (GRCm39) E1792G probably damaging Het
Ndrg1 A G 15: 66,820,288 (GRCm39) C49R probably benign Het
Neurl4 A G 11: 69,801,232 (GRCm39) H1201R probably benign Het
Nfasc T C 1: 132,510,804 (GRCm39) Y1073C unknown Het
Nrbp2 A G 15: 75,958,945 (GRCm39) Y253H probably benign Het
Or10c1 T A 17: 37,521,980 (GRCm39) I255F probably benign Het
Or4g16 T A 2: 111,137,225 (GRCm39) V225D probably damaging Het
Or4k45 T C 2: 111,395,556 (GRCm39) T78A probably damaging Het
Pcsk5 A T 19: 17,416,466 (GRCm39) C1661S probably damaging Het
Qsox2 T G 2: 26,110,924 (GRCm39) D147A probably damaging Het
Siglec15 T A 18: 78,100,590 (GRCm39) probably benign Het
Skint5 T A 4: 113,454,900 (GRCm39) T1011S unknown Het
Slc9a2 A G 1: 40,783,001 (GRCm39) T422A probably damaging Het
Tert C T 13: 73,776,380 (GRCm39) T377I possibly damaging Het
Tex15 T A 8: 34,061,129 (GRCm39) S186R probably damaging Het
Tgfb1 A G 7: 25,396,343 (GRCm39) D212G probably benign Het
Tnc T G 4: 63,935,973 (GRCm39) D321A probably damaging Het
Topbp1 G A 9: 103,187,088 (GRCm39) E98K possibly damaging Het
Ugp2 C A 11: 21,320,203 (GRCm39) M1I probably null Het
Vipr2 G A 12: 116,058,418 (GRCm39) D112N probably benign Het
Vps13a T C 19: 16,718,265 (GRCm39) E485G probably damaging Het
Vps37a T A 8: 40,990,087 (GRCm39) I198N possibly damaging Het
Zbtb9 T C 17: 27,193,735 (GRCm39) V380A probably damaging Het
Zfhx4 G C 3: 5,307,802 (GRCm39) V343L probably damaging Het
Other mutations in Gemin7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02750:Gemin7 APN 7 19,299,344 (GRCm39) missense probably null 1.00
R5020:Gemin7 UTSW 7 19,299,348 (GRCm39) missense possibly damaging 0.61
R5896:Gemin7 UTSW 7 19,299,223 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTGAGTTCAAAGCCAGAGTTTG -3'
(R):5'- GACCATCCTGAGACCAGAAGTC -3'

Sequencing Primer
(F):5'- TCAAAGCCAGAGTTTGTTGGAG -3'
(R):5'- TCGGAGAAGGTCATATTCAAGATCCC -3'
Posted On 2019-06-07