Incidental Mutation 'IGL00579:Pacc1'
ID 7296
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: 0.084) question?
Stock # IGL00579
Quality Score
Status
Chromosome 1
Chromosomal Location 191058109-191083111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 191060405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 21 (V21A)
Ref Sequence ENSEMBL: ENSMUSP00000027940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027940]
AlphaFold Q9D771
Predicted Effect unknown
Transcript: ENSMUST00000027940
AA Change: V21A
SMART Domains Protein: ENSMUSP00000027940
Gene: ENSMUSG00000026627
AA Change: V21A

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T C 5: 24,773,794 (GRCm39) E365G possibly damaging Het
Adamts12 T C 15: 11,152,100 (GRCm39) Y197H probably benign Het
Cept1 A T 3: 106,413,119 (GRCm39) V202E possibly damaging Het
Cfap53 A T 18: 74,438,611 (GRCm39) K263* probably null Het
Dennd3 T C 15: 73,412,691 (GRCm39) I451T possibly damaging Het
Dync2h1 A C 9: 7,035,728 (GRCm39) probably benign Het
Egf T A 3: 129,491,447 (GRCm39) H850L probably benign Het
Gm11595 T C 11: 99,662,868 (GRCm39) T271A unknown Het
Gorab T C 1: 163,222,256 (GRCm39) E142G probably damaging Het
Gpat4 A G 8: 23,672,791 (GRCm39) S20P probably damaging Het
Gpr83 T C 9: 14,771,897 (GRCm39) V23A probably benign Het
Il13ra2 A G X: 146,177,386 (GRCm39) Y146H probably damaging Het
Kcnj16 C T 11: 110,916,034 (GRCm39) T232M probably benign Het
Mdfic A T 6: 15,741,073 (GRCm39) I61F possibly damaging Het
Mmp3 G T 9: 7,445,894 (GRCm39) probably benign Het
Olr1 C T 6: 129,470,486 (GRCm39) R227K probably benign Het
Otof T A 5: 30,556,666 (GRCm39) I257F possibly damaging Het
Oxsr1 T A 9: 119,088,277 (GRCm39) R43S probably damaging Het
Prkdc A G 16: 15,482,103 (GRCm39) D382G probably damaging Het
Slc35b2 G T 17: 45,875,886 (GRCm39) V81L probably damaging Het
Thumpd3 G A 6: 113,024,622 (GRCm39) R72H possibly damaging Het
Tsga10 G A 1: 37,874,534 (GRCm39) T117I probably damaging Het
Vps13a T A 19: 16,684,726 (GRCm39) T953S probably benign Het
Wdr62 A C 7: 29,967,320 (GRCm39) C311W probably damaging Het
Wdr74 A G 19: 8,716,830 (GRCm39) T247A possibly damaging Het
Zbtb26 A T 2: 37,326,454 (GRCm39) V194D possibly damaging Het
Zfp639 A T 3: 32,574,626 (GRCm39) E417V probably damaging Het
Other mutations in Pacc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Pacc1 APN 1 191,080,605 (GRCm39) missense possibly damaging 0.90
IGL03180:Pacc1 APN 1 191,071,089 (GRCm39) missense probably damaging 1.00
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 2012-04-20