Incidental Mutation 'IGL01446:Gulp1'
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ID84444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gulp1
Ensembl Gene ENSMUSG00000056870
Gene NameGULP, engulfment adaptor PTB domain containing 1
Synonyms3110030A04Rik, GULP, CED-6, Ced6, 5730529O06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL01446
Quality Score
Status
Chromosome1
Chromosomal Location44551511-44796838 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 44744548 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074525] [ENSMUST00000159555] [ENSMUST00000160854] [ENSMUST00000162600]
Predicted Effect probably benign
Transcript: ENSMUST00000074525
SMART Domains Protein: ENSMUSP00000074115
Gene: ENSMUSG00000056870

DomainStartEndE-ValueType
PTB 22 158 1.11e-38 SMART
coiled coil region 159 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159555
Predicted Effect probably benign
Transcript: ENSMUST00000160854
SMART Domains Protein: ENSMUSP00000125506
Gene: ENSMUSG00000056870

DomainStartEndE-ValueType
PTB 22 158 1.11e-38 SMART
coiled coil region 159 202 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161793
Predicted Effect probably benign
Transcript: ENSMUST00000162600
SMART Domains Protein: ENSMUSP00000124756
Gene: ENSMUSG00000056870

DomainStartEndE-ValueType
PTB 22 158 1.11e-38 SMART
coiled coil region 178 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186732
Coding Region Coverage
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 an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Acaca A G 11: 84,260,631 K785R probably damaging Het
Acsm3 G A 7: 119,778,454 V401M probably damaging Het
Aff4 G T 11: 53,415,469 R1146L probably damaging Het
Alms1 C A 6: 85,696,701 P3562T probably damaging Het
Arsj A G 3: 126,438,814 E403G probably benign Het
Baiap2l1 C T 5: 144,275,913 V431I probably benign Het
Cecr2 T A 6: 120,758,599 M904K probably benign Het
Cenpe A T 3: 135,237,539 T775S probably benign Het
Dennd1b G A 1: 139,023,110 E30K possibly damaging Het
Dnah5 A G 15: 28,326,669 D2008G probably damaging Het
Dnm2 T C 9: 21,481,376 V460A probably damaging Het
Ell2 G T 13: 75,761,991 L285F probably benign Het
Erg A G 16: 95,361,282 S322P probably damaging Het
Extl3 A G 14: 65,077,080 F218L probably benign Het
Fam84a A T 12: 14,149,928 I266N probably damaging Het
Fzd9 T C 5: 135,250,566 E155G probably damaging Het
Ghr A G 15: 3,333,355 W212R probably damaging Het
Hdgfl2 C T 17: 56,097,281 R332C possibly damaging Het
Nsd2 T C 5: 33,861,186 probably benign Het
Olfr1259 A G 2: 89,943,938 F59S probably damaging Het
Olfr1441 T C 19: 12,422,801 I164T possibly damaging Het
Olfr1480 C T 19: 13,530,252 T237I probably benign Het
Phf11b A C 14: 59,341,291 S9A probably benign Het
Psd4 T C 2: 24,405,395 S854P probably damaging Het
Reln C T 5: 21,969,317 D1963N probably damaging Het
Rpe65 T A 3: 159,600,405 probably benign Het
Sdccag8 T C 1: 176,845,245 S235P probably damaging Het
Sgip1 G T 4: 102,928,913 probably null Het
Skint5 G A 4: 113,942,822 P36L probably damaging Het
Slc26a3 G T 12: 31,452,491 probably benign Het
Snx13 T A 12: 35,124,480 C669* probably null Het
Svil A T 18: 5,062,385 T902S probably damaging Het
Syne2 T C 12: 76,041,375 S4989P probably damaging Het
Ttn G A 2: 76,809,939 T13775M probably damaging Het
Ubr4 T C 4: 139,438,040 probably benign Het
Ush1c C T 7: 46,208,956 R636H possibly damaging Het
Usp17lc A T 7: 103,418,444 R315S probably benign Het
Vmn1r236 T A 17: 21,286,656 V12D probably benign Het
Wsb2 T G 5: 117,371,164 I170S probably damaging Het
Zfp800 G A 6: 28,242,984 L661F possibly damaging Het
Other mutations in Gulp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02439:Gulp1 APN 1 44781004 missense probably damaging 0.96
IGL03410:Gulp1 APN 1 44708617 missense probably damaging 0.97
guzzle UTSW 1 44708669 nonsense probably null
R1746:Gulp1 UTSW 1 44754353 missense possibly damaging 0.81
R1990:Gulp1 UTSW 1 44766114 missense possibly damaging 0.92
R4166:Gulp1 UTSW 1 44708669 nonsense probably null
R4895:Gulp1 UTSW 1 44788597 missense probably benign
R5208:Gulp1 UTSW 1 44781039 missense probably benign 0.00
R5244:Gulp1 UTSW 1 44788453 missense probably damaging 1.00
R5533:Gulp1 UTSW 1 44773281 missense probably damaging 1.00
R5911:Gulp1 UTSW 1 44754374 missense possibly damaging 0.55
R6164:Gulp1 UTSW 1 44754351 missense probably damaging 0.98
R6503:Gulp1 UTSW 1 44773380 missense probably damaging 1.00
R7026:Gulp1 UTSW 1 44781085 missense possibly damaging 0.65
R7091:Gulp1 UTSW 1 44766134 missense probably damaging 0.99
R7207:Gulp1 UTSW 1 44766132 missense possibly damaging 0.61
R8219:Gulp1 UTSW 1 44754341 critical splice acceptor site probably null
Z1176:Gulp1 UTSW 1 44788479 missense probably damaging 1.00
Posted On2013-11-11