Incidental Mutation 'R1746:Gulp1'
ID 193956
Institutional Source Beutler Lab
Gene Symbol Gulp1
Ensembl Gene ENSMUSG00000056870
Gene Name GULP, engulfment adaptor PTB domain containing 1
Synonyms CED-6, 3110030A04Rik, Ced6, GULP, 5730529O06Rik
MMRRC Submission 039778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R1746 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 44590671-44835998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44793513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 58 (H58R)
Ref Sequence ENSEMBL: ENSMUSP00000124756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074525] [ENSMUST00000159555] [ENSMUST00000160854] [ENSMUST00000162600]
AlphaFold Q8K2A1
Predicted Effect possibly damaging
Transcript: ENSMUST00000074525
AA Change: H58R

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074115
Gene: ENSMUSG00000056870
AA Change: H58R

DomainStartEndE-ValueType
PTB 22 158 1.11e-38 SMART
coiled coil region 159 202 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000159555
Predicted Effect possibly damaging
Transcript: ENSMUST00000160854
AA Change: H58R

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125506
Gene: ENSMUSG00000056870
AA Change: H58R

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: H58R

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124756
Gene: ENSMUSG00000056870
AA Change: H58R

DomainStartEndE-ValueType
PTB 22 158 1.11e-38 SMART
coiled coil region 178 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194594
Meta Mutation Damage Score 0.1315 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,927,717 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aknad1 A G 3: 108,659,099 (GRCm39) T38A possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgap21 T C 2: 20,865,910 (GRCm39) E902G probably damaging Het
Atg2b A G 12: 105,635,588 (GRCm39) S227P possibly damaging Het
Atp2c2 C T 8: 120,461,182 (GRCm39) probably benign Het
Atxn10 T C 15: 85,260,864 (GRCm39) V203A probably damaging Het
Chd9 A C 8: 91,737,326 (GRCm39) E1468D probably benign Het
Cntn5 T A 9: 9,831,577 (GRCm39) D601V probably damaging Het
Col4a2 G A 8: 11,496,020 (GRCm39) G1547D probably benign Het
Cul1 A G 6: 47,485,179 (GRCm39) E270G probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dmgdh C A 13: 93,888,933 (GRCm39) T857K probably benign Het
Ednra T G 8: 78,398,211 (GRCm39) T279P probably benign Het
Erbin A G 13: 103,987,339 (GRCm39) I407T probably damaging Het
Fggy A G 4: 95,814,965 (GRCm39) Y440C probably damaging Het
Flrt2 A T 12: 95,747,566 (GRCm39) N635Y possibly damaging Het
Fnbp1l A G 3: 122,350,140 (GRCm39) I357T probably benign Het
Hid1 A T 11: 115,245,464 (GRCm39) V446E probably damaging Het
Igfn1 A G 1: 135,897,561 (GRCm39) S1002P possibly damaging Het
Klri1 A G 6: 129,675,118 (GRCm39) probably null Het
Kmt2d A C 15: 98,762,259 (GRCm39) L409R probably damaging Het
Ltn1 A C 16: 87,208,669 (GRCm39) S810A possibly damaging Het
Mysm1 G A 4: 94,836,648 (GRCm39) Q721* probably null Het
Nae1 A G 8: 105,254,017 (GRCm39) V105A possibly damaging Het
Nagpa C T 16: 5,021,503 (GRCm39) V83M probably damaging Het
Nrg2 G A 18: 36,154,975 (GRCm39) T503M probably damaging Het
Nrxn3 A G 12: 89,221,789 (GRCm39) M150V possibly damaging Het
Or5p52 C A 7: 107,502,093 (GRCm39) H56Q probably benign Het
Or8g28 A G 9: 39,169,498 (GRCm39) S157P probably damaging Het
Papola T A 12: 105,773,468 (GRCm39) D162E probably benign Het
Plxnc1 T C 10: 94,680,041 (GRCm39) probably null Het
Ppp1r16b T A 2: 158,588,585 (GRCm39) probably null Het
Ptprq T A 10: 107,474,691 (GRCm39) E1338V probably damaging Het
Puf60 G A 15: 75,942,633 (GRCm39) H437Y probably benign Het
Qsox2 C T 2: 26,110,650 (GRCm39) V189I probably benign Het
Rad51ap2 A T 12: 11,507,776 (GRCm39) D566V probably benign Het
Rb1cc1 T A 1: 6,333,237 (GRCm39) probably null Het
Rfpl4b C T 10: 38,697,049 (GRCm39) C184Y possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rundc3a GAGCC GAGCCAGCC 11: 102,291,739 (GRCm39) probably null Het
Scara5 A C 14: 65,968,539 (GRCm39) M271L probably benign Het
Sel1l2 A G 2: 140,127,157 (GRCm39) L118P probably damaging Het
Sema6a T A 18: 47,439,416 (GRCm39) probably benign Het
Siglech T A 7: 55,418,252 (GRCm39) H73Q probably benign Het
Sim1 A G 10: 50,860,205 (GRCm39) D689G probably benign Het
Skp2 T C 15: 9,139,530 (GRCm39) E55G possibly damaging Het
Slc1a1 T A 19: 28,871,869 (GRCm39) V114E probably benign Het
Slc26a6 G A 9: 108,738,916 (GRCm39) G614D probably benign Het
Sptbn2 C T 19: 4,795,992 (GRCm39) Q1724* probably null Het
Tet3 T C 6: 83,345,050 (GRCm39) T1796A probably damaging Het
Tmem117 A C 15: 94,829,714 (GRCm39) D183A possibly damaging Het
Trmt44 A G 5: 35,721,403 (GRCm39) S587P probably benign Het
Ttn G T 2: 76,619,166 (GRCm39) probably benign Het
Tubgcp5 G A 7: 55,458,285 (GRCm39) V399M probably benign Het
Txndc2 T A 17: 65,945,130 (GRCm39) D349V probably damaging Het
Uggt2 T A 14: 119,250,915 (GRCm39) N1194I probably benign Het
Vmn1r178 A T 7: 23,593,329 (GRCm39) I53L probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript 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
IGL03410:Gulp1 APN 1 44,747,777 (GRCm39) missense probably damaging 0.97
guzzle UTSW 1 44,747,829 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- TGGAGACGGTTACTGAGCAAAGCTA -3'
(R):5'- CCAAAGGCTGTTACCTTTCCCCAAA -3'

Sequencing Primer
(F):5'- CGGTTACTGAGCAAAGCTATTTTATG -3'
(R):5'- ACCAAGAACCAACCATTTTAAGTTAG -3'
Posted On 2014-05-23