Incidental Mutation 'IGL03410:Gulp1'
ID 421729
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 # IGL03410
Quality Score
Status
Chromosome 1
Chromosomal Location 44590671-44835998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44747777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 10 (D10V)
Ref Sequence ENSEMBL: ENSMUSP00000124756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074525] [ENSMUST00000159555] [ENSMUST00000160854] [ENSMUST00000161066] [ENSMUST00000162600]
AlphaFold Q8K2A1
Predicted Effect possibly damaging
Transcript: ENSMUST00000074525
AA Change: D10V

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074115
Gene: ENSMUSG00000056870
AA Change: D10V

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 possibly damaging
Transcript: ENSMUST00000160854
AA Change: D10V

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125506
Gene: ENSMUSG00000056870
AA Change: D10V

DomainStartEndE-ValueType
PTB 22 158 1.11e-38 SMART
coiled coil region 159 202 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000161066
AA Change: D10V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161793
Predicted Effect probably damaging
Transcript: ENSMUST00000162600
AA Change: D10V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124756
Gene: ENSMUSG00000056870
AA Change: D10V

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,220,728 (GRCm39) V409E probably damaging Het
1700086D15Rik A G 11: 65,043,393 (GRCm39) probably benign Het
Apba1 A G 19: 23,914,945 (GRCm39) N715S possibly damaging Het
Arfgef3 G T 10: 18,476,238 (GRCm39) A1527D probably damaging Het
Cmtm2a G T 8: 105,010,501 (GRCm39) P133T probably damaging Het
Cyp2d9 T C 15: 82,340,900 (GRCm39) V483A probably benign Het
Dclre1b T A 3: 103,715,456 (GRCm39) D14V probably damaging Het
Dock5 T C 14: 68,083,535 (GRCm39) I125V probably benign Het
Dok3 G T 13: 55,672,044 (GRCm39) Y211* probably null Het
Fat4 T C 3: 38,945,325 (GRCm39) V1406A probably damaging Het
Fbn2 A G 18: 58,183,315 (GRCm39) F1790S possibly damaging Het
Gm4787 A T 12: 81,425,948 (GRCm39) M70K probably damaging Het
Hagh T C 17: 25,079,916 (GRCm39) probably benign Het
Htt A G 5: 34,956,789 (GRCm39) E206G probably damaging Het
Hyou1 A G 9: 44,299,355 (GRCm39) E682G probably benign Het
Ift56 T C 6: 38,362,435 (GRCm39) L70P probably damaging Het
Igkv4-59 G T 6: 69,415,450 (GRCm39) A35E probably damaging Het
Krt78 A G 15: 101,862,421 (GRCm39) V80A probably damaging Het
Lars2 G A 9: 123,247,841 (GRCm39) A333T possibly damaging Het
Lrrc4 G A 6: 28,830,515 (GRCm39) R367W probably damaging Het
Med1 A T 11: 98,080,009 (GRCm39) M44K possibly damaging Het
Mep1a T A 17: 43,788,986 (GRCm39) probably null Het
Mmrn1 A G 6: 60,952,819 (GRCm39) I367V probably benign Het
Myo18a T C 11: 77,738,830 (GRCm39) L1677P probably damaging Het
Neb T C 2: 52,209,717 (GRCm39) T246A probably benign Het
Nkiras1 A G 14: 18,280,073 (GRCm38) R155G probably benign Het
Nrip1 T C 16: 76,089,379 (GRCm39) N726S probably benign Het
Nyap2 A G 1: 81,219,156 (GRCm39) T393A possibly damaging Het
Oprm1 A T 10: 6,780,051 (GRCm39) I238F probably damaging Het
Or4b1b A G 2: 90,112,557 (GRCm39) Y121H probably damaging Het
Or4b1d G A 2: 89,969,489 (GRCm39) probably benign Het
Or5m11b T A 2: 85,805,764 (GRCm39) M59K probably damaging Het
Pcnx2 T A 8: 126,613,779 (GRCm39) E557D probably damaging Het
Pole A G 5: 110,472,425 (GRCm39) I1563V probably benign Het
Pramel21 C A 4: 143,341,851 (GRCm39) H93Q probably benign Het
Prdx3 T G 19: 60,859,848 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,669,501 (GRCm39) R295K probably null Het
Rhbdl2 T A 4: 123,723,463 (GRCm39) L289* probably null Het
Rnps1 A G 17: 24,640,835 (GRCm39) probably benign Het
Rpgrip1 A G 14: 52,395,823 (GRCm39) probably benign Het
Ryr2 A T 13: 11,603,033 (GRCm39) Y4518N probably damaging Het
Scyl3 A G 1: 163,772,436 (GRCm39) N296S probably damaging Het
Sipa1l3 G A 7: 29,047,964 (GRCm39) T1308M probably damaging Het
Slc39a9 A G 12: 80,691,662 (GRCm39) D3G probably damaging Het
Slc4a9 A G 18: 36,662,740 (GRCm39) E165G probably benign Het
Slc6a3 A T 13: 73,686,776 (GRCm39) I48F probably benign Het
Stxbp3 C T 3: 108,709,476 (GRCm39) C354Y probably damaging Het
Terb1 C A 8: 105,199,674 (GRCm39) probably benign Het
Tfrc G A 16: 32,443,649 (GRCm39) probably null Het
Toporsl A C 4: 52,611,134 (GRCm39) R342S probably benign Het
Ube2d3 T A 3: 135,170,978 (GRCm39) W141R probably damaging Het
Vps13b G T 15: 35,910,486 (GRCm39) V3417L probably benign Het
Other mutations in Gulp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Gulp1 APN 1 44,783,708 (GRCm39) splice site probably benign
IGL02439:Gulp1 APN 1 44,820,164 (GRCm39) missense probably damaging 0.96
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 2016-08-02