Incidental Mutation 'IGL01064:Get4'
ID51019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Get4
Ensembl Gene ENSMUSG00000025858
Gene Namegolgi to ER traffic protein 4
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01064
Quality Score
Status
Chromosome5
Chromosomal Location139252324-139270051 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 139252522 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 20 (R20C)
Ref Sequence ENSEMBL: ENSMUSP00000117473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026976] [ENSMUST00000058716] [ENSMUST00000078690] [ENSMUST00000110878] [ENSMUST00000110882] [ENSMUST00000110883] [ENSMUST00000110884] [ENSMUST00000130326] [ENSMUST00000138508]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026976
AA Change: R20C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026976
Gene: ENSMUSG00000025858
AA Change: R20C

DomainStartEndE-ValueType
low complexity region 1 8 N/A INTRINSIC
low complexity region 12 22 N/A INTRINSIC
Pfam:DUF410 56 306 4.6e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058716
SMART Domains Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 108 127 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
ZnF_C2H2 183 205 5.2e0 SMART
SCOP:d1qovm1 334 450 2e-3 SMART
low complexity region 466 475 N/A INTRINSIC
coiled coil region 492 527 N/A INTRINSIC
SCOP:d1eq1a_ 572 689 3e-3 SMART
Pfam:Sad1_UNC 777 911 2.2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078690
SMART Domains Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 108 127 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
ZnF_C2H2 183 205 5.2e0 SMART
SCOP:d1qovm1 270 386 2e-3 SMART
low complexity region 402 411 N/A INTRINSIC
coiled coil region 428 463 N/A INTRINSIC
SCOP:d1eq1a_ 508 625 2e-3 SMART
Pfam:Sad1_UNC 713 847 1.9e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110878
SMART Domains Protein: ENSMUSP00000106502
Gene: ENSMUSG00000025858

DomainStartEndE-ValueType
Pfam:DUF410 1 250 2.6e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110882
SMART Domains Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 108 127 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
ZnF_C2H2 183 205 5.2e0 SMART
low complexity region 263 271 N/A INTRINSIC
low complexity region 310 319 N/A INTRINSIC
coiled coil region 336 371 N/A INTRINSIC
SCOP:d1eq1a_ 416 533 4e-3 SMART
Pfam:Sad1_UNC 621 755 7.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110883
SMART Domains Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 108 127 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
ZnF_C2H2 183 205 5.2e0 SMART
SCOP:d1qovm1 233 327 4e-3 SMART
low complexity region 343 352 N/A INTRINSIC
coiled coil region 369 404 N/A INTRINSIC
SCOP:d1eq1a_ 449 566 3e-3 SMART
Pfam:Sad1_UNC 654 788 1.7e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110884
SMART Domains Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 108 127 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
ZnF_C2H2 183 205 5.2e0 SMART
Pfam:MRP 274 381 1.8e-8 PFAM
low complexity region 382 390 N/A INTRINSIC
low complexity region 429 438 N/A INTRINSIC
coiled coil region 455 490 N/A INTRINSIC
SCOP:d1eq1a_ 535 652 4e-3 SMART
Pfam:Sad1_UNC 740 874 2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127310
SMART Domains Protein: ENSMUSP00000114514
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
PDB:4DXS|A 38 73 3e-6 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000130326
AA Change: R20C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117473
Gene: ENSMUSG00000025858
AA Change: R20C

DomainStartEndE-ValueType
low complexity region 1 8 N/A INTRINSIC
low complexity region 12 22 N/A INTRINSIC
Pfam:DUF410 54 246 1.1e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138508
SMART Domains Protein: ENSMUSP00000116975
Gene: ENSMUSG00000025858

DomainStartEndE-ValueType
Pfam:DUF410 1 197 4.5e-82 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,483,855 T4137S probably benign Het
Abcb1a T C 5: 8,732,388 Y924H possibly damaging Het
Ash1l T G 3: 89,072,484 C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpne6 T C 14: 55,512,730 F106S probably damaging Het
Cysltr1 A T X: 106,578,736 I48N probably damaging Het
Dsg1a A T 18: 20,340,206 I779F probably damaging Het
Fpr-rs4 T A 17: 18,022,517 L262H probably damaging Het
Gart G A 16: 91,623,007 R871C probably damaging Het
Gm13030 G A 4: 138,873,558 probably benign Het
Gm17654 A T 14: 43,578,998 H49Q unknown Het
Gpnmb A G 6: 49,055,659 I506V probably benign Het
Ist1 T C 8: 109,682,611 I86V probably damaging Het
Kcnip1 C T 11: 33,633,192 D198N probably damaging Het
Kif5c A G 2: 49,694,816 I184V possibly damaging Het
Mink1 A T 11: 70,603,481 M236L probably benign Het
Muc5ac A T 7: 141,807,473 N1507I probably benign Het
Nrxn2 G T 19: 6,517,053 E1326D probably damaging Het
Olfr1329 A T 4: 118,916,894 M191K possibly damaging Het
Olfr1469 T C 19: 13,411,226 I219T probably benign Het
Olfr635 A T 7: 103,979,792 Y200F probably benign Het
Patj T C 4: 98,496,973 S326P possibly damaging Het
Pdha2 T C 3: 141,211,015 H244R possibly damaging Het
Pkhd1 C T 1: 20,534,530 probably benign Het
Ptk7 A T 17: 46,573,566 L746* probably null Het
Rad54b G A 4: 11,604,866 G438D probably damaging Het
Rbm27 T C 18: 42,319,814 V536A possibly damaging Het
Rundc3b T A 5: 8,569,553 M135L probably damaging Het
Sorcs2 T C 5: 36,065,352 Y353C probably damaging Het
Srcap T C 7: 127,559,892 probably benign Het
Sytl5 A G X: 9,905,595 H66R probably benign Het
Tlr7 T A X: 167,308,211 E93V probably damaging Het
Tmem156 A G 5: 65,079,984 L76S probably damaging Het
Tmem246 C T 4: 49,586,860 V103M possibly damaging Het
Tomm70a T C 16: 57,152,612 F571S probably damaging Het
Trmt10b A G 4: 45,314,347 Y261C possibly damaging Het
Other mutations in Get4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02219:Get4 APN 5 139263629 critical splice donor site probably null
IGL02348:Get4 APN 5 139252499 missense probably benign 0.13
R0741:Get4 UTSW 5 139263629 critical splice donor site probably benign
R3805:Get4 UTSW 5 139252531 missense probably damaging 0.98
R3807:Get4 UTSW 5 139252531 missense probably damaging 0.98
R6609:Get4 UTSW 5 139269065 unclassified probably benign
R7026:Get4 UTSW 5 139252603 missense possibly damaging 0.94
R8066:Get4 UTSW 5 139263538 missense probably damaging 0.99
R8292:Get4 UTSW 5 139262931 missense probably null 0.01
R8428:Get4 UTSW 5 139265638 missense probably benign 0.00
Posted On2013-06-21