Incidental Mutation 'IGL02429:Golm2'
ID 293049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golm2
Ensembl Gene ENSMUSG00000060227
Gene Name golgi membrane protein 2
Synonyms D130060C09Rik, Casc4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02429
Quality Score
Status
Chromosome 2
Chromosomal Location 121697451-121766701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121742468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 306 (T306A)
Ref Sequence ENSEMBL: ENSMUSP00000087360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078752] [ENSMUST00000089912] [ENSMUST00000089915] [ENSMUST00000110586] [ENSMUST00000136023]
AlphaFold Q6P2L7
Predicted Effect probably benign
Transcript: ENSMUST00000078752
AA Change: T339A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077811
Gene: ENSMUSG00000060227
AA Change: T339A

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
low complexity region 400 418 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089912
AA Change: T306A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000087357
Gene: ENSMUSG00000060227
AA Change: T306A

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
low complexity region 367 385 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089915
AA Change: T306A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000087360
Gene: ENSMUSG00000060227
AA Change: T306A

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110586
AA Change: T339A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106216
Gene: ENSMUSG00000060227
AA Change: T339A

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126256
Predicted Effect probably benign
Transcript: ENSMUST00000136023
AA Change: T227A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117883
Gene: ENSMUSG00000060227
AA Change: T227A

DomainStartEndE-ValueType
coiled coil region 2 83 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,687,453 (GRCm39) D245V probably damaging Het
Adamts16 G A 13: 70,935,289 (GRCm39) probably benign Het
Arhgap36 A G X: 48,583,583 (GRCm39) D77G possibly damaging Het
Asap1 A T 15: 64,039,589 (GRCm39) M187K probably damaging Het
Aspm T C 1: 139,407,548 (GRCm39) V2145A probably benign Het
Ccn6 T C 10: 39,030,989 (GRCm39) N178S probably benign Het
Cd46 T C 1: 194,767,732 (GRCm39) T110A probably benign Het
Chl1 T A 6: 103,641,770 (GRCm39) probably benign Het
Clca3b A G 3: 144,533,896 (GRCm39) L493S probably damaging Het
Col11a2 C T 17: 34,261,266 (GRCm39) T72M probably damaging Het
Cyfip1 T A 7: 55,521,730 (GRCm39) probably benign Het
Frmd4b T C 6: 97,302,390 (GRCm39) probably benign Het
Glyr1 A G 16: 4,837,240 (GRCm39) M397T probably benign Het
Gtf2a1l G T 17: 88,976,141 (GRCm39) M1I probably null Het
Hdac4 A G 1: 91,940,417 (GRCm39) L154P probably benign Het
Ints8 A T 4: 11,231,720 (GRCm39) C422S probably damaging Het
Kng2 T A 16: 22,830,829 (GRCm39) K160I probably damaging Het
Lrrc23 C A 6: 124,755,130 (GRCm39) A136S probably damaging Het
Ltf T C 9: 110,855,193 (GRCm39) I402T possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mfsd4a T C 1: 131,956,237 (GRCm39) H509R probably benign Het
Mthfd1l A G 10: 4,039,334 (GRCm39) K782E probably damaging Het
Mvb12b G A 2: 33,717,800 (GRCm39) R114W probably damaging Het
Myh4 A T 11: 67,149,808 (GRCm39) K1818* probably null Het
Myo1h C T 5: 114,497,799 (GRCm39) probably benign Het
Ncapd3 T A 9: 27,000,598 (GRCm39) S1402T probably benign Het
Nutm2 A G 13: 50,623,516 (GRCm39) N71S probably benign Het
Oas1c C A 5: 120,940,133 (GRCm39) M344I probably benign Het
Or10g7 T A 9: 39,905,138 (GRCm39) F11I probably benign Het
Phldb1 A G 9: 44,612,247 (GRCm39) L1019P probably damaging Het
Plxnc1 T C 10: 94,718,453 (GRCm39) E494G probably benign Het
Pole T C 5: 110,447,666 (GRCm39) I734T probably benign Het
Ppp1r3b T C 8: 35,851,769 (GRCm39) S203P probably benign Het
Pth2r G T 1: 65,385,998 (GRCm39) M240I probably benign Het
Ptprr T A 10: 116,109,672 (GRCm39) F394I probably damaging Het
Rabgef1 T C 5: 130,239,329 (GRCm39) S265P possibly damaging Het
Rbpjl A G 2: 164,255,815 (GRCm39) D353G possibly damaging Het
Rfc3 A G 5: 151,574,596 (GRCm39) Y8H probably benign Het
Rph3a A T 5: 121,118,187 (GRCm39) probably null Het
Runx1t1 A T 4: 13,865,294 (GRCm39) probably benign Het
Slc37a1 T A 17: 31,519,483 (GRCm39) probably null Het
Slc38a10 T C 11: 120,025,714 (GRCm39) probably benign Het
Slc38a6 T C 12: 73,397,342 (GRCm39) V328A probably benign Het
Slf2 T C 19: 44,930,167 (GRCm39) S415P probably benign Het
Spata17 C A 1: 186,872,631 (GRCm39) R60L possibly damaging Het
Svil T A 18: 5,118,369 (GRCm39) D2237E probably benign Het
Swap70 T A 7: 109,863,179 (GRCm39) N169K probably benign Het
Tnfrsf11a A G 1: 105,755,443 (GRCm39) D505G probably benign Het
Traf1 A G 2: 34,839,115 (GRCm39) V70A probably benign Het
Traf3 T A 12: 111,209,899 (GRCm39) V165E probably benign Het
Trpc5 T C X: 143,194,795 (GRCm39) E570G probably damaging Het
Ubash3a A G 17: 31,460,279 (GRCm39) N601S probably benign Het
Vmn2r30 C T 7: 7,337,243 (GRCm39) C131Y possibly damaging Het
Vmn2r43 T C 7: 8,258,551 (GRCm39) I221V probably benign Het
Vmn2r97 T A 17: 19,150,596 (GRCm39) V481E possibly damaging Het
Other mutations in Golm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Golm2 APN 2 121,741,274 (GRCm39) splice site probably benign
IGL01020:Golm2 APN 2 121,756,203 (GRCm39) missense probably benign 0.06
IGL01794:Golm2 APN 2 121,742,407 (GRCm39) missense probably benign 0.36
R0126:Golm2 UTSW 2 121,736,565 (GRCm39) splice site probably benign
R0709:Golm2 UTSW 2 121,697,906 (GRCm39) missense probably damaging 1.00
R2182:Golm2 UTSW 2 121,697,909 (GRCm39) missense probably damaging 1.00
R4771:Golm2 UTSW 2 121,756,126 (GRCm39) missense probably damaging 1.00
R5533:Golm2 UTSW 2 121,756,178 (GRCm39) intron probably benign
R5817:Golm2 UTSW 2 121,736,525 (GRCm39) missense probably benign 0.30
R6519:Golm2 UTSW 2 121,737,218 (GRCm39) missense probably benign 0.31
R6598:Golm2 UTSW 2 121,763,967 (GRCm39) missense probably damaging 1.00
R6598:Golm2 UTSW 2 121,763,966 (GRCm39) missense probably damaging 1.00
R7799:Golm2 UTSW 2 121,764,022 (GRCm39) missense probably benign 0.01
R8009:Golm2 UTSW 2 121,737,242 (GRCm39) missense probably benign 0.00
R8359:Golm2 UTSW 2 121,697,632 (GRCm39) start gained probably benign
R8360:Golm2 UTSW 2 121,697,632 (GRCm39) start gained probably benign
R8995:Golm2 UTSW 2 121,756,199 (GRCm39) missense probably damaging 1.00
R9095:Golm2 UTSW 2 121,756,096 (GRCm39) missense probably damaging 1.00
R9620:Golm2 UTSW 2 121,737,242 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16