Incidental Mutation 'R7953:Golga7'
ID 649669
Institutional Source Beutler Lab
Gene Symbol Golga7
Ensembl Gene ENSMUSG00000015341
Gene Name golgin A7
Synonyms GOLGA3AP1, HSPC041, GCP16, C130038N16Rik
MMRRC Submission 045997-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7953 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 23731362-23747090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23746731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 24 (C24S)
Ref Sequence ENSEMBL: ENSMUSP00000062983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051094] [ENSMUST00000121783]
AlphaFold Q91W53
Predicted Effect possibly damaging
Transcript: ENSMUST00000051094
AA Change: C24S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000062983
Gene: ENSMUSG00000015341
AA Change: C24S

DomainStartEndE-ValueType
Pfam:Erf4 11 125 3.2e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121783
AA Change: C24S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112935
Gene: ENSMUSG00000015341
AA Change: C24S

DomainStartEndE-ValueType
Pfam:Erf4 11 125 3.2e-38 PFAM
Meta Mutation Damage Score 0.2195 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,450,896 (GRCm39) R120G probably null Het
Abcb9 T C 5: 124,211,665 (GRCm39) Y628C probably damaging Het
Adrm1b A T 3: 92,336,637 (GRCm39) Y22N probably benign Het
Alpk2 C T 18: 65,482,901 (GRCm39) C369Y probably damaging Het
Caskin1 T G 17: 24,723,195 (GRCm39) L661R probably damaging Het
Cep83 A C 10: 94,573,804 (GRCm39) N231T probably damaging Het
Cfap44 G A 16: 44,234,054 (GRCm39) G338D probably benign Het
Chrna7 T G 7: 62,753,541 (GRCm39) K326T possibly damaging Het
Col4a4 A G 1: 82,431,689 (GRCm39) S1532P unknown Het
Cplx4 A T 18: 66,090,190 (GRCm39) probably null Het
Csf1r G C 18: 61,257,947 (GRCm39) G639R probably damaging Het
Dnajc27 T C 12: 4,147,270 (GRCm39) L151P possibly damaging Het
Epha5 A G 5: 84,381,513 (GRCm39) V446A probably benign Het
Esam T C 9: 37,448,317 (GRCm39) V252A probably damaging Het
Flnc C A 6: 29,447,828 (GRCm39) D1210E probably damaging Het
Fmn1 G A 2: 113,426,689 (GRCm39) M1233I probably benign Het
Fstl4 T C 11: 52,891,050 (GRCm39) S63P probably benign Het
Gas2l2 A G 11: 83,314,070 (GRCm39) V414A possibly damaging Het
Glra1 G A 11: 55,424,688 (GRCm39) P174L probably damaging Het
Gm16485 A T 9: 8,972,196 (GRCm39) N21Y unknown Het
Ints8 T C 4: 11,227,128 (GRCm39) T582A probably benign Het
Irx2 A T 13: 72,777,343 (GRCm39) T55S probably benign Het
Lce1j A T 3: 92,696,390 (GRCm39) C129* probably null Het
Mettl25b T C 3: 87,834,955 (GRCm39) N115S possibly damaging Het
Mocs1 G A 17: 49,761,799 (GRCm39) G631E possibly damaging Het
Mpi A T 9: 57,457,881 (GRCm39) L107Q probably damaging Het
Msrb2 A G 2: 19,399,166 (GRCm39) *176W probably null Het
Myh13 T A 11: 67,231,206 (GRCm39) L401Q probably damaging Het
Npffr2 G A 5: 89,730,513 (GRCm39) V148I probably benign Het
Oas1a T C 5: 121,035,080 (GRCm39) E360G probably benign Het
Or4k15c A T 14: 50,321,367 (GRCm39) I257N possibly damaging Het
Or5b96 A C 19: 12,867,095 (GRCm39) V282G probably damaging Het
Or9g20 A T 2: 85,630,239 (GRCm39) I125N probably damaging Het
Pcdha2 A G 18: 37,072,579 (GRCm39) D70G probably benign Het
Phf11b T C 14: 59,568,722 (GRCm39) S64G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plpp2 A C 10: 79,366,374 (GRCm39) L146R possibly damaging Het
Poc5 T A 13: 96,539,408 (GRCm39) N316K probably benign Het
Rad51ap2 A T 12: 11,512,593 (GRCm39) R947* probably null Het
Ralgapb A G 2: 158,307,803 (GRCm39) H1037R probably benign Het
Rpl21 T C 5: 146,772,702 (GRCm39) V141A probably benign Het
Rufy3 C A 5: 88,790,851 (GRCm39) D517E probably benign Het
Scn7a A G 2: 66,587,670 (GRCm39) V11A possibly damaging Het
Sipa1l1 A C 12: 82,496,700 (GRCm39) Q1744P probably damaging Het
Smc2 T C 4: 52,470,911 (GRCm39) probably null Het
Sorcs3 T A 19: 48,752,734 (GRCm39) L843Q possibly damaging Het
Strc A T 2: 121,207,844 (GRCm39) F509Y probably damaging Het
Tas2r117 A C 6: 132,780,281 (GRCm39) T140P probably damaging Het
Tnxb T A 17: 34,928,509 (GRCm39) I2641N possibly damaging Het
Tnxb C A 17: 34,929,077 (GRCm39) P2707T probably benign Het
Vmn1r4 T A 6: 56,933,515 (GRCm39) N6K probably benign Het
Vmn1r91 T A 7: 19,835,218 (GRCm39) S46T possibly damaging Het
Zfp750 T C 11: 121,402,706 (GRCm39) T681A probably benign Het
Other mutations in Golga7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5115:Golga7 UTSW 8 23,735,986 (GRCm39) splice site probably null
R5152:Golga7 UTSW 8 23,735,965 (GRCm39) missense probably benign
R5671:Golga7 UTSW 8 23,740,360 (GRCm39) missense probably damaging 1.00
R5994:Golga7 UTSW 8 23,740,281 (GRCm39) missense probably benign 0.06
R6167:Golga7 UTSW 8 23,735,904 (GRCm39) missense probably damaging 0.97
R8043:Golga7 UTSW 8 23,746,731 (GRCm39) missense possibly damaging 0.56
R8778:Golga7 UTSW 8 23,735,944 (GRCm39) missense possibly damaging 0.88
R8922:Golga7 UTSW 8 23,740,288 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAATCCTGACGTCTCATGCTC -3'
(R):5'- GCTACAGCCATGAGTGAAGG -3'

Sequencing Primer
(F):5'- ATGCTCTCCCGAACCGTGAG -3'
(R):5'- CTACAGCCATGAGTGAAGGGGATC -3'
Posted On 2020-09-15