Incidental Mutation 'R6132:Golph3l'
ID 487167
Institutional Source Beutler Lab
Gene Symbol Golph3l
Ensembl Gene ENSMUSG00000046519
Gene Name golgi phosphoprotein 3-like
Synonyms GPP34R, 2010204I15Rik
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95496280-95526553 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 95499145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 96 (P96A)
Ref Sequence ENSEMBL: ENSMUSP00000096460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029754] [ENSMUST00000060323] [ENSMUST00000090797] [ENSMUST00000098861] [ENSMUST00000107154] [ENSMUST00000177390]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029754
SMART Domains Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109

DomainStartEndE-ValueType
Pfam:HORMA 24 221 4.7e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060323
SMART Domains Protein: ENSMUSP00000058654
Gene: ENSMUSG00000046519

DomainStartEndE-ValueType
Pfam:GPP34 50 275 8.5e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090797
SMART Domains Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098861
AA Change: P96A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096460
Gene: ENSMUSG00000046519
AA Change: P96A

DomainStartEndE-ValueType
low complexity region 58 69 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
Pfam:GPP34 106 277 5.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107154
SMART Domains Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000176541
AA Change: P91A
Predicted Effect unknown
Transcript: ENSMUST00000176674
AA Change: P95A
SMART Domains Protein: ENSMUSP00000134885
Gene: ENSMUSG00000046519
AA Change: P95A

DomainStartEndE-ValueType
low complexity region 58 69 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
Pfam:GPP34 104 288 2.4e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177390
AA Change: P96A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000134799
Gene: ENSMUSG00000046519
AA Change: P96A

DomainStartEndE-ValueType
low complexity region 58 69 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
Pfam:GPP34 106 332 8.3e-61 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000176755
AA Change: P93A
SMART Domains Protein: ENSMUSP00000134804
Gene: ENSMUSG00000046519
AA Change: P93A

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
Pfam:GPP34 104 275 7.5e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198013
Predicted Effect probably benign
Transcript: ENSMUST00000177389
Predicted Effect probably benign
Transcript: ENSMUST00000177399
SMART Domains Protein: ENSMUSP00000134998
Gene: ENSMUSG00000046519

DomainStartEndE-ValueType
Pfam:GPP34 23 170 5.4e-27 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null Het
Other mutations in Golph3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Golph3l APN 3 95,496,414 (GRCm39) missense possibly damaging 0.96
IGL01299:Golph3l APN 3 95,524,588 (GRCm39) missense possibly damaging 0.71
R0749:Golph3l UTSW 3 95,515,260 (GRCm39) missense probably damaging 1.00
R2021:Golph3l UTSW 3 95,524,668 (GRCm39) missense probably benign 0.01
R2161:Golph3l UTSW 3 95,524,436 (GRCm39) missense probably damaging 1.00
R2359:Golph3l UTSW 3 95,499,275 (GRCm39) splice site probably null
R3015:Golph3l UTSW 3 95,499,024 (GRCm39) intron probably benign
R4828:Golph3l UTSW 3 95,499,059 (GRCm39) missense possibly damaging 0.63
R4933:Golph3l UTSW 3 95,524,734 (GRCm39) missense probably benign 0.00
R5088:Golph3l UTSW 3 95,524,501 (GRCm39) missense possibly damaging 0.55
R6339:Golph3l UTSW 3 95,524,750 (GRCm39) missense probably damaging 1.00
R7595:Golph3l UTSW 3 95,517,094 (GRCm39) missense probably benign 0.09
R8164:Golph3l UTSW 3 95,524,517 (GRCm39) missense probably benign 0.06
R9435:Golph3l UTSW 3 95,496,369 (GRCm39) missense probably benign 0.00
R9763:Golph3l UTSW 3 95,517,085 (GRCm39) missense possibly damaging 0.76
R9779:Golph3l UTSW 3 95,499,041 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CGTGTAGGTCTTCTGTGAACC -3'
(R):5'- GGTACTAACACAATGCTATCCATCTC -3'

Sequencing Primer
(F):5'- AGGTCTTCTGTGAACCTGTATTTG -3'
(R):5'- ACACAATGCTATCCATCTCTTTCATC -3'
Posted On 2017-10-10