Incidental Mutation 'IGL03105:Orai3'
ID 418943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Orai3
Ensembl Gene ENSMUSG00000043964
Gene Name ORAI calcium release-activated calcium modulator 3
Synonyms Tmem142c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # IGL03105
Quality Score
Status
Chromosome 7
Chromosomal Location 127368987-127374322 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 127372725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033081] [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000061587] [ENSMUST00000118865] [ENSMUST00000121504] [ENSMUST00000206893] [ENSMUST00000186116] [ENSMUST00000186207] [ENSMUST00000143951] [ENSMUST00000126761] [ENSMUST00000144406] [ENSMUST00000188580]
AlphaFold Q6P8G8
Predicted Effect probably benign
Transcript: ENSMUST00000033081
SMART Domains Protein: ENSMUSP00000033081
Gene: ENSMUSG00000030811

DomainStartEndE-ValueType
Pfam:zf-CXXC 11 57 1.7e-16 PFAM
PHD 67 129 4e-4 SMART
low complexity region 166 183 N/A INTRINSIC
low complexity region 302 325 N/A INTRINSIC
low complexity region 355 377 N/A INTRINSIC
FBOX 404 444 4.6e-4 SMART
low complexity region 509 520 N/A INTRINSIC
LRR 576 601 3.58e1 SMART
LRR 631 656 1.28e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047075
SMART Domains Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308

DomainStartEndE-ValueType
RRM 95 168 7.6e-6 SMART
low complexity region 209 242 N/A INTRINSIC
low complexity region 278 295 N/A INTRINSIC
low complexity region 315 357 N/A INTRINSIC
low complexity region 427 487 N/A INTRINSIC
Blast:SET 488 976 N/A BLAST
low complexity region 977 1007 N/A INTRINSIC
low complexity region 1015 1079 N/A INTRINSIC
low complexity region 1087 1098 N/A INTRINSIC
low complexity region 1122 1152 N/A INTRINSIC
low complexity region 1157 1173 N/A INTRINSIC
Blast:SET 1193 1310 2e-24 BLAST
low complexity region 1311 1368 N/A INTRINSIC
low complexity region 1369 1396 N/A INTRINSIC
N-SET 1428 1567 6.75e-64 SMART
SET 1577 1700 3.22e-35 SMART
PostSET 1700 1716 1.16e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047157
SMART Domains Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308

DomainStartEndE-ValueType
RRM 95 168 7.6e-6 SMART
low complexity region 209 242 N/A INTRINSIC
low complexity region 278 295 N/A INTRINSIC
low complexity region 315 357 N/A INTRINSIC
low complexity region 427 487 N/A INTRINSIC
Blast:SET 488 976 N/A BLAST
low complexity region 977 1007 N/A INTRINSIC
low complexity region 1015 1079 N/A INTRINSIC
low complexity region 1087 1098 N/A INTRINSIC
low complexity region 1122 1152 N/A INTRINSIC
low complexity region 1157 1173 N/A INTRINSIC
Blast:SET 1193 1310 2e-24 BLAST
low complexity region 1311 1368 N/A INTRINSIC
low complexity region 1369 1396 N/A INTRINSIC
N-SET 1428 1567 6.75e-64 SMART
SET 1577 1700 3.22e-35 SMART
PostSET 1700 1716 1.16e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000061587
SMART Domains Protein: ENSMUSP00000050279
Gene: ENSMUSG00000043964

DomainStartEndE-ValueType
Pfam:Orai-1 46 271 1.3e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118865
SMART Domains Protein: ENSMUSP00000112382
Gene: ENSMUSG00000043964

DomainStartEndE-ValueType
Pfam:Orai-1 42 165 1.5e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121504
SMART Domains Protein: ENSMUSP00000113142
Gene: ENSMUSG00000043964

DomainStartEndE-ValueType
Pfam:Orai-1 42 94 1.3e-16 PFAM
low complexity region 125 133 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206893
Predicted Effect probably benign
Transcript: ENSMUST00000186116
SMART Domains Protein: ENSMUSP00000140083
Gene: ENSMUSG00000030811

DomainStartEndE-ValueType
low complexity region 10 33 N/A INTRINSIC
low complexity region 63 85 N/A INTRINSIC
FBOX 112 152 3e-6 SMART
low complexity region 217 228 N/A INTRINSIC
LRR 284 309 1.5e-1 SMART
LRR 339 364 5.3e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186207
SMART Domains Protein: ENSMUSP00000140303
Gene: ENSMUSG00000030811

DomainStartEndE-ValueType
Pfam:zf-CXXC 11 57 1.7e-16 PFAM
PHD 67 129 4e-4 SMART
low complexity region 166 183 N/A INTRINSIC
low complexity region 302 325 N/A INTRINSIC
low complexity region 355 377 N/A INTRINSIC
FBOX 404 444 4.6e-4 SMART
low complexity region 509 520 N/A INTRINSIC
LRR 576 601 3.58e1 SMART
LRR 631 656 1.28e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143951
Predicted Effect probably benign
Transcript: ENSMUST00000126761
SMART Domains Protein: ENSMUSP00000120666
Gene: ENSMUSG00000042308

DomainStartEndE-ValueType
RRM 95 168 7.6e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144406
SMART Domains Protein: ENSMUSP00000115248
Gene: ENSMUSG00000042308

DomainStartEndE-ValueType
RRM 95 168 7.6e-6 SMART
low complexity region 209 242 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188580
SMART Domains Protein: ENSMUSP00000140021
Gene: ENSMUSG00000030811

DomainStartEndE-ValueType
Pfam:zf-CXXC 11 57 1.3e-16 PFAM
PHD 67 129 4e-4 SMART
low complexity region 186 209 N/A INTRINSIC
low complexity region 239 261 N/A INTRINSIC
FBOX 288 328 4.6e-4 SMART
low complexity region 393 404 N/A INTRINSIC
LRR 460 485 3.58e1 SMART
LRR 515 540 1.28e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging Het
Other mutations in Orai3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02378:Orai3 APN 7 127,369,333 (GRCm39) missense probably damaging 1.00
R1493:Orai3 UTSW 7 127,373,077 (GRCm39) missense possibly damaging 0.69
R4795:Orai3 UTSW 7 127,373,060 (GRCm39) missense probably benign 0.03
R4973:Orai3 UTSW 7 127,373,348 (GRCm39) missense probably damaging 1.00
R6053:Orai3 UTSW 7 127,373,050 (GRCm39) missense probably benign 0.00
R6684:Orai3 UTSW 7 127,372,892 (GRCm39) missense probably damaging 1.00
R7490:Orai3 UTSW 7 127,372,799 (GRCm39) missense possibly damaging 0.53
R7651:Orai3 UTSW 7 127,373,236 (GRCm39) missense probably damaging 0.97
R7762:Orai3 UTSW 7 127,372,743 (GRCm39) missense unknown
R9269:Orai3 UTSW 7 127,373,194 (GRCm39) missense probably benign
R9584:Orai3 UTSW 7 127,373,177 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02