Incidental Mutation 'IGL02439:Gulp1'
ID 293381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gulp1
Ensembl Gene ENSMUSG00000056870
Gene Name GULP, engulfment adaptor PTB domain containing 1
Synonyms CED-6, 3110030A04Rik, Ced6, GULP, 5730529O06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02439
Quality Score
Status
Chromosome 1
Chromosomal Location 44590671-44835998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44820164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 216 (I216F)
Ref Sequence ENSEMBL: ENSMUSP00000125506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074525] [ENSMUST00000159555] [ENSMUST00000160854] [ENSMUST00000162600]
AlphaFold Q8K2A1
Predicted Effect possibly damaging
Transcript: ENSMUST00000074525
AA Change: I216F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074115
Gene: ENSMUSG00000056870
AA Change: I216F

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 damaging
Transcript: ENSMUST00000160854
AA Change: I216F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125506
Gene: ENSMUSG00000056870
AA Change: I216F

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 possibly damaging
Transcript: ENSMUST00000162600
AA Change: I224F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124756
Gene: ENSMUSG00000056870
AA Change: I224F

DomainStartEndE-ValueType
PTB 22 158 1.11e-38 SMART
coiled coil region 178 210 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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik A T 14: 4,348,890 (GRCm38) Y17F probably benign Het
Ablim2 A C 5: 36,015,206 (GRCm39) T507P possibly damaging Het
Arhgef28 T C 13: 98,067,647 (GRCm39) Y1426C possibly damaging Het
Cftr T A 6: 18,258,237 (GRCm39) Y592* probably null Het
Eogt C T 6: 97,120,934 (GRCm39) G93D possibly damaging Het
Exosc9 A G 3: 36,607,180 (GRCm39) probably benign Het
Frem1 T C 4: 82,874,582 (GRCm39) I1329V probably benign Het
Gal3st1 T C 11: 3,948,110 (GRCm39) F106L possibly damaging Het
Ints13 A T 6: 146,455,721 (GRCm39) probably benign Het
Kars1 G A 8: 112,724,268 (GRCm39) T453I probably benign Het
Kif14 A G 1: 136,417,999 (GRCm39) D844G probably damaging Het
Lgals3bp A T 11: 118,289,046 (GRCm39) C93S probably damaging Het
Lst1 T C 17: 35,405,958 (GRCm39) I32V probably benign Het
Malsu1 T A 6: 49,052,121 (GRCm39) Y114N probably damaging Het
Ndufa5 A T 6: 24,519,201 (GRCm39) V41E probably damaging Het
Nme6 C A 9: 109,670,999 (GRCm39) P80T probably damaging Het
Odad2 T A 18: 7,268,444 (GRCm39) R358S probably benign Het
Or5ac20 A G 16: 59,104,818 (GRCm39) L14P probably damaging Het
Padi4 T C 4: 140,473,532 (GRCm39) D635G probably damaging Het
Pcf11 C T 7: 92,311,049 (GRCm39) S313N possibly damaging Het
Pdik1l T C 4: 134,006,015 (GRCm39) H309R probably benign Het
Pdk2 A T 11: 94,930,323 (GRCm39) probably benign Het
Pprc1 A G 19: 46,060,758 (GRCm39) S1606G possibly damaging Het
Ptch1 A G 13: 63,692,910 (GRCm39) I230T probably damaging Het
Scn10a C T 9: 119,447,914 (GRCm39) R1381Q probably benign Het
Sestd1 T C 2: 77,027,174 (GRCm39) K479E possibly damaging Het
Sez6l2 C T 7: 126,567,361 (GRCm39) S892L probably damaging Het
Slc39a9 G T 12: 80,713,350 (GRCm39) A83S probably benign Het
Slc6a6 A G 6: 91,726,808 (GRCm39) Y483C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tas2r131 A G 6: 132,934,732 (GRCm39) S26P probably damaging Het
Timd2 A G 11: 46,569,063 (GRCm39) probably benign Het
Tmem126a T C 7: 90,104,641 (GRCm39) E27G probably damaging Het
Tns2 G A 15: 102,022,978 (GRCm39) G1256E probably damaging Het
Trpv6 T A 6: 41,602,421 (GRCm39) I322F probably damaging Het
Tshr G A 12: 91,504,321 (GRCm39) V420M probably damaging Het
Ttn C A 2: 76,596,431 (GRCm39) A20161S probably damaging Het
Vmn2r66 A T 7: 84,654,455 (GRCm39) probably benign Het
Zfp438 T A 18: 5,213,216 (GRCm39) S581C probably damaging Het
Other mutations in Gulp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Gulp1 APN 1 44,783,708 (GRCm39) splice site probably benign
IGL03410:Gulp1 APN 1 44,747,777 (GRCm39) missense probably damaging 0.97
guzzle UTSW 1 44,747,829 (GRCm39) nonsense probably null
R1746:Gulp1 UTSW 1 44,793,513 (GRCm39) missense possibly damaging 0.81
R1990:Gulp1 UTSW 1 44,805,274 (GRCm39) missense possibly damaging 0.92
R4166:Gulp1 UTSW 1 44,747,829 (GRCm39) nonsense probably null
R4895:Gulp1 UTSW 1 44,827,757 (GRCm39) missense probably benign
R5208:Gulp1 UTSW 1 44,820,199 (GRCm39) missense probably benign 0.00
R5244:Gulp1 UTSW 1 44,827,613 (GRCm39) missense probably damaging 1.00
R5533:Gulp1 UTSW 1 44,812,441 (GRCm39) missense probably damaging 1.00
R5911:Gulp1 UTSW 1 44,793,534 (GRCm39) missense possibly damaging 0.55
R6164:Gulp1 UTSW 1 44,793,511 (GRCm39) missense probably damaging 0.98
R6503:Gulp1 UTSW 1 44,812,540 (GRCm39) missense probably damaging 1.00
R7026:Gulp1 UTSW 1 44,820,245 (GRCm39) missense possibly damaging 0.65
R7091:Gulp1 UTSW 1 44,805,294 (GRCm39) missense probably damaging 0.99
R7207:Gulp1 UTSW 1 44,805,292 (GRCm39) missense possibly damaging 0.61
R8219:Gulp1 UTSW 1 44,793,501 (GRCm39) critical splice acceptor site probably null
R8669:Gulp1 UTSW 1 44,805,270 (GRCm39) missense probably benign 0.21
R9001:Gulp1 UTSW 1 44,827,709 (GRCm39) missense probably benign
R9037:Gulp1 UTSW 1 44,793,524 (GRCm39) missense probably benign 0.05
R9304:Gulp1 UTSW 1 44,793,593 (GRCm39) nonsense probably null
Z1176:Gulp1 UTSW 1 44,827,639 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16