Incidental Mutation 'IGL03180:Pacc1'
ID 412186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pacc1
Ensembl Gene ENSMUSG00000026627
Gene Name proton activated chloride channel 1
Synonyms Tmem206, 2310028N02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL03180
Quality Score
Status
Chromosome 1
Chromosomal Location 191058109-191083111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 191071089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 82 (V82F)
Ref Sequence ENSEMBL: ENSMUSP00000027940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027940]
AlphaFold Q9D771
Predicted Effect probably damaging
Transcript: ENSMUST00000027940
AA Change: V82F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027940
Gene: ENSMUSG00000026627
AA Change: V82F

DomainStartEndE-ValueType
coiled coil region 2 36 N/A INTRINSIC
Pfam:TMEM206 55 349 7.2e-173 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,082,951 (GRCm39) Y321H probably benign Het
Adam28 T A 14: 68,874,883 (GRCm39) I265L probably damaging Het
Adcy8 T C 15: 64,655,799 (GRCm39) D560G possibly damaging Het
Aff3 A G 1: 38,574,743 (GRCm39) M79T probably damaging Het
Ahctf1 A G 1: 179,602,895 (GRCm39) probably null Het
Aspn C T 13: 49,716,991 (GRCm39) R256W probably damaging Het
Birc6 T C 17: 74,966,226 (GRCm39) V4051A probably benign Het
Cfap46 G A 7: 139,183,168 (GRCm39) L2584F unknown Het
Chdh T A 14: 29,756,559 (GRCm39) probably null Het
Clasp1 A G 1: 118,433,255 (GRCm39) T245A probably benign Het
Clec4a1 G A 6: 122,901,777 (GRCm39) V70I probably benign Het
Cpt2 A T 4: 107,764,157 (GRCm39) S536T probably damaging Het
Dnah9 A T 11: 65,777,465 (GRCm39) H3694Q probably damaging Het
Dntt T A 19: 41,017,990 (GRCm39) F38Y probably benign Het
Dync2i1 T C 12: 116,182,485 (GRCm39) S706G probably benign Het
Eif4ebp2 T C 10: 61,269,589 (GRCm39) E117G probably damaging Het
Eif5b T C 1: 38,075,350 (GRCm39) I609T probably damaging Het
Esam G A 9: 37,445,866 (GRCm39) G135S probably damaging Het
Fut7 C A 2: 25,315,465 (GRCm39) A241D possibly damaging Het
Grin2d T A 7: 45,502,753 (GRCm39) K706M probably damaging Het
Grip2 A G 6: 91,762,742 (GRCm39) probably benign Het
Gtf2ird2 A G 5: 134,220,087 (GRCm39) T22A probably damaging Het
Hadh T C 3: 131,065,533 (GRCm39) I42V probably benign Het
Iqsec3 T A 6: 121,390,467 (GRCm39) probably benign Het
Izumo3 G A 4: 92,034,524 (GRCm39) probably benign Het
Ldlrad1 G T 4: 107,075,032 (GRCm39) C193F probably damaging Het
Lgals4 G A 7: 28,537,053 (GRCm39) G118R probably damaging Het
Map4k1 A C 7: 28,687,510 (GRCm39) E136A probably damaging Het
Mapk8ip1 G T 2: 92,217,257 (GRCm39) P346Q possibly damaging Het
Mrtfb A G 16: 13,216,196 (GRCm39) K303E probably damaging Het
Nlrp14 T A 7: 106,781,833 (GRCm39) H343Q probably benign Het
Ogg1 T G 6: 113,310,455 (GRCm39) probably null Het
Or12k8 C T 2: 36,975,722 (GRCm39) V13M possibly damaging Het
Or5m10 A T 2: 85,717,740 (GRCm39) M199L probably benign Het
Pafah1b1 A T 11: 74,574,344 (GRCm39) C281S possibly damaging Het
Papss1 C T 3: 131,313,143 (GRCm39) R386W probably damaging Het
Pex5 A G 6: 124,390,522 (GRCm39) probably benign Het
Pibf1 C A 14: 99,370,780 (GRCm39) Q261K probably benign Het
Plcb3 T C 19: 6,933,521 (GRCm39) S935G probably benign Het
Polg A G 7: 79,101,601 (GRCm39) probably benign Het
Ptpdc1 G A 13: 48,739,553 (GRCm39) T626I probably damaging Het
Rab34 A T 11: 78,081,144 (GRCm39) Y87F probably damaging Het
Rsrc1 T G 3: 66,989,876 (GRCm39) probably benign Het
Ryr2 T C 13: 11,583,449 (GRCm39) N4735S possibly damaging Het
Scn7a T C 2: 66,506,578 (GRCm39) D1437G possibly damaging Het
Sdk1 A G 5: 142,071,497 (GRCm39) E1229G probably damaging Het
Sez6l A T 5: 112,584,151 (GRCm39) V806D probably damaging Het
Sgsm2 A C 11: 74,759,401 (GRCm39) probably null Het
Sla A G 15: 66,661,569 (GRCm39) I121T probably benign Het
Son T C 16: 91,453,896 (GRCm39) L881S probably damaging Het
Srms A G 2: 180,854,573 (GRCm39) probably benign Het
Stoml1 T C 9: 58,168,200 (GRCm39) S304P probably damaging Het
Stt3a T C 9: 36,670,552 (GRCm39) D73G probably damaging Het
Tpp1 T C 7: 105,395,856 (GRCm39) T558A probably benign Het
Trp53i13 T C 11: 77,403,528 (GRCm39) probably benign Het
Vmn2r77 A G 7: 86,450,843 (GRCm39) Y243C possibly damaging Het
Vwde T C 6: 13,205,764 (GRCm39) D261G probably damaging Het
Zfpm2 A G 15: 40,964,790 (GRCm39) K293R probably damaging Het
Other mutations in Pacc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Pacc1 APN 1 191,060,405 (GRCm39) missense unknown
IGL02318:Pacc1 APN 1 191,080,605 (GRCm39) missense possibly damaging 0.90
R1301:Pacc1 UTSW 1 191,080,632 (GRCm39) missense probably damaging 1.00
R1445:Pacc1 UTSW 1 191,080,559 (GRCm39) unclassified probably benign
R1463:Pacc1 UTSW 1 191,060,486 (GRCm39) splice site probably benign
R1610:Pacc1 UTSW 1 191,077,262 (GRCm39) missense probably benign 0.04
R2149:Pacc1 UTSW 1 191,077,306 (GRCm39) missense probably benign 0.04
R4418:Pacc1 UTSW 1 191,080,629 (GRCm39) missense probably damaging 1.00
R4825:Pacc1 UTSW 1 191,073,040 (GRCm39) missense probably damaging 0.97
R5274:Pacc1 UTSW 1 191,080,665 (GRCm39) missense probably damaging 0.99
R5842:Pacc1 UTSW 1 191,078,986 (GRCm39) missense probably damaging 1.00
R5956:Pacc1 UTSW 1 191,080,568 (GRCm39) missense probably damaging 1.00
R6031:Pacc1 UTSW 1 191,073,037 (GRCm39) missense probably benign 0.09
R6031:Pacc1 UTSW 1 191,073,037 (GRCm39) missense probably benign 0.09
R7500:Pacc1 UTSW 1 191,078,910 (GRCm39) splice site probably null
R7670:Pacc1 UTSW 1 191,073,065 (GRCm39) missense probably benign 0.19
R9331:Pacc1 UTSW 1 191,077,318 (GRCm39) critical splice donor site probably null
R9516:Pacc1 UTSW 1 191,082,004 (GRCm39) missense probably damaging 1.00
R9539:Pacc1 UTSW 1 191,077,174 (GRCm39) nonsense probably null
Posted On 2016-08-02