Incidental Mutation 'R7091:Gulp1'
ID 550188
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 045185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R7091 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 44590671-44835998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44805294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 128 (F128I)
Ref Sequence ENSEMBL: ENSMUSP00000125506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074525] [ENSMUST00000159555] [ENSMUST00000160854] [ENSMUST00000162600]
AlphaFold Q8K2A1
Predicted Effect probably damaging
Transcript: ENSMUST00000074525
AA Change: F128I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074115
Gene: ENSMUSG00000056870
AA Change: F128I

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: F128I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125506
Gene: ENSMUSG00000056870
AA Change: F128I

DomainStartEndE-ValueType
PTB 22 158 1.11e-38 SMART
coiled coil region 159 202 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000162600
AA Change: F128I

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124756
Gene: ENSMUSG00000056870
AA Change: F128I

DomainStartEndE-ValueType
PTB 22 158 1.11e-38 SMART
coiled coil region 178 210 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (56/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A C 3: 40,871,173 (GRCm39) I111L probably damaging Het
Ank1 A G 8: 23,548,679 (GRCm39) D11G probably benign Het
Ank2 G T 3: 126,817,000 (GRCm39) Q472K probably damaging Het
Apbb2 A T 5: 66,470,677 (GRCm39) L520H probably damaging Het
Baat T C 4: 49,499,692 (GRCm39) K205E probably benign Het
Brca1 T A 11: 101,417,253 (GRCm39) M294L probably benign Het
Capn1 A G 19: 6,041,586 (GRCm39) M641T possibly damaging Het
Cluap1 T A 16: 3,758,670 (GRCm39) D377E probably benign Het
Col6a2 C T 10: 76,450,925 (GRCm39) V39I unknown Het
Crybg3 T A 16: 59,377,531 (GRCm39) D1241V possibly damaging Het
Dnah10 A G 5: 124,893,206 (GRCm39) K3380R probably benign Het
Eml5 T C 12: 98,768,733 (GRCm39) I1400M probably benign Het
Fancd2 A G 6: 113,522,062 (GRCm39) D219G probably damaging Het
Fras1 A G 5: 96,856,535 (GRCm39) S1973G probably benign Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
G3bp1 T A 11: 55,387,047 (GRCm39) H271Q possibly damaging Het
Glce A G 9: 61,967,870 (GRCm39) V427A probably damaging Het
Gm5141 T C 13: 62,921,778 (GRCm39) T464A possibly damaging Het
H2-T13 T C 17: 36,394,833 (GRCm39) E30G possibly damaging Het
Hcrtr1 A C 4: 130,024,707 (GRCm39) L393W probably damaging Het
Heg1 T C 16: 33,547,090 (GRCm39) S650P probably benign Het
Hspa4l T A 3: 40,736,024 (GRCm39) N569K probably benign Het
Ifi206 A G 1: 173,301,441 (GRCm39) F746L unknown Het
Ivl T C 3: 92,479,549 (GRCm39) D172G possibly damaging Het
Lrp5 A T 19: 3,680,184 (GRCm39) D433E probably damaging Het
Mgam T C 6: 40,745,210 (GRCm39) S1826P possibly damaging Het
Ms4a18 A T 19: 10,986,092 (GRCm39) L206M probably damaging Het
Msln A T 17: 25,969,054 (GRCm39) C444S probably damaging Het
Mta1 A G 12: 113,100,022 (GRCm39) D644G probably damaging Het
Muc5ac G C 7: 141,363,424 (GRCm39) probably benign Het
Naa15 T C 3: 51,366,177 (GRCm39) probably null Het
Nadk A G 4: 155,672,215 (GRCm39) H302R probably benign Het
Neb T A 2: 52,146,124 (GRCm39) N15I Het
Nup153 A T 13: 46,837,404 (GRCm39) S1273T probably benign Het
Ofcc1 A G 13: 40,226,243 (GRCm39) I763T probably damaging Het
Or4b13 T C 2: 90,082,807 (GRCm39) Y175C probably damaging Het
Oxsr1 T C 9: 119,113,727 (GRCm39) I107V probably benign Het
Prmt5 A G 14: 54,748,799 (GRCm39) probably null Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ranbp6 A G 19: 29,790,116 (GRCm39) S79P probably damaging Het
Reln T C 5: 22,104,027 (GRCm39) I3315V probably null Het
Rnf223 T C 4: 156,217,156 (GRCm39) V177A probably benign Het
Slc20a1 C T 2: 129,050,192 (GRCm39) T450M possibly damaging Het
Smg5 C T 3: 88,258,654 (GRCm39) P542S probably benign Het
Sorl1 T A 9: 41,913,930 (GRCm39) Q1333L probably benign Het
Spag5 T A 11: 78,204,017 (GRCm39) probably null Het
Spopfm1 T C 3: 94,173,945 (GRCm39) F314L probably damaging Het
Tdp2 T A 13: 25,022,207 (GRCm39) F209I probably damaging Het
Tgm4 C A 9: 122,869,525 (GRCm39) L35M probably damaging Het
Tma7 A G 9: 108,911,580 (GRCm39) probably benign Het
Tmprss4 A T 9: 45,095,571 (GRCm39) V91D probably damaging Het
Tnfsf4 T A 1: 161,223,268 (GRCm39) M39K probably benign Het
Ttn T A 2: 76,543,912 (GRCm39) T33025S probably benign Het
Tut1 A G 19: 8,943,175 (GRCm39) H754R probably benign Het
Vmn2r27 T G 6: 124,200,904 (GRCm39) Q351P possibly damaging Het
Wee2 G T 6: 40,438,936 (GRCm39) G353V probably benign Het
Zfp747l1 C A 7: 126,983,534 (GRCm39) A523S possibly damaging Het
Zfp879 T A 11: 50,724,222 (GRCm39) H278L probably damaging 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
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
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'- GGGCATGTGCAATGATAAGATC -3'
(R):5'- CCTGAAGCCTGTTCTCATGACAG -3'

Sequencing Primer
(F):5'- GTGCAATGATAAGATCAAGGTTTGAC -3'
(R):5'- GCCTGTTCTCATGACAGGATGAATC -3'
Posted On 2019-05-15