Incidental Mutation 'IGL00487:Invs'
ID 6674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Invs
Ensembl Gene ENSMUSG00000028344
Gene Name inversin
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.670) question?
Stock # IGL00487
Quality Score
Status
Chromosome 4
Chromosomal Location 48279760-48431954 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 48407689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 555 (Q555*)
Ref Sequence ENSEMBL: ENSMUSP00000030029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030029] [ENSMUST00000143433]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000030029
AA Change: Q555*
SMART Domains Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: Q555*

DomainStartEndE-ValueType
ANK 47 76 2.66e-5 SMART
ANK 80 110 1.8e-2 SMART
ANK 113 144 1.63e0 SMART
ANK 148 177 6.46e-4 SMART
ANK 181 215 3.44e1 SMART
ANK 220 250 1.11e-2 SMART
ANK 254 285 2.07e-2 SMART
ANK 288 317 3.18e-3 SMART
ANK 321 350 3.91e-3 SMART
ANK 356 385 2.28e-4 SMART
ANK 389 418 8.39e-3 SMART
ANK 422 451 3.76e-5 SMART
ANK 455 484 2.45e-4 SMART
ANK 488 517 1.31e-4 SMART
ANK 523 553 6.71e-2 SMART
IQ 554 576 5.75e-2 SMART
low complexity region 589 607 N/A INTRINSIC
IQ 913 935 2.46e-1 SMART
low complexity region 973 989 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143433
SMART Domains Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344

DomainStartEndE-ValueType
ANK 47 76 2.66e-5 SMART
ANK 80 110 1.8e-2 SMART
ANK 113 144 1.63e0 SMART
ANK 164 194 1.11e-2 SMART
ANK 198 229 2.07e-2 SMART
ANK 232 261 3.18e-3 SMART
ANK 265 294 3.91e-3 SMART
ANK 300 329 2.28e-4 SMART
ANK 333 362 8.39e-3 SMART
ANK 366 395 3.76e-5 SMART
ANK 399 428 2.45e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Transgenic mice homozygous for an insertional mutation exhibit complete inversion of the L-R body axis, reversal of embryo turning, complex cardiac anomalies, an abnormally slow turbulent leftward nodal flow, and renal cyst formation. Most succumb to renal failure within 1 week of life. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,200,276 (GRCm39) probably null Het
Cfap251 T G 5: 123,412,240 (GRCm39) I84S probably damaging Het
Dusp23 T C 1: 172,459,199 (GRCm39) probably benign Het
Mak16 T C 8: 31,656,778 (GRCm39) N9D probably benign Het
Mrps7 T C 11: 115,495,684 (GRCm39) I74T possibly damaging Het
Nlrp4a T G 7: 26,149,410 (GRCm39) V339G possibly damaging Het
Nucb1 A G 7: 45,151,075 (GRCm39) L102P probably damaging Het
Pdp2 T C 8: 105,320,829 (GRCm39) M226T probably benign Het
Pik3r2 T C 8: 71,223,073 (GRCm39) D449G probably damaging Het
Rnf157 G A 11: 116,253,181 (GRCm39) P76S probably benign Het
Senp6 C A 9: 80,021,120 (GRCm39) Q267K probably damaging Het
Slc9a2 A G 1: 40,781,818 (GRCm39) E349G probably damaging Het
Snx14 G T 9: 88,284,243 (GRCm39) S475Y probably damaging Het
Vmn1r180 A T 7: 23,651,948 (GRCm39) H37L probably benign Het
Xrn1 A T 9: 95,921,002 (GRCm39) H1371L probably benign Het
Other mutations in Invs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Invs APN 4 48,402,909 (GRCm39) missense probably damaging 0.98
IGL01487:Invs APN 4 48,398,136 (GRCm39) missense probably benign 0.26
IGL01696:Invs APN 4 48,425,997 (GRCm39) missense probably damaging 1.00
IGL02238:Invs APN 4 48,390,029 (GRCm39) missense probably damaging 1.00
IGL03286:Invs APN 4 48,382,261 (GRCm39) missense probably benign 0.26
R0645:Invs UTSW 4 48,407,653 (GRCm39) missense probably benign 0.00
R0661:Invs UTSW 4 48,421,861 (GRCm39) missense probably benign
R0698:Invs UTSW 4 48,396,364 (GRCm39) missense probably benign 0.04
R0763:Invs UTSW 4 48,392,628 (GRCm39) missense possibly damaging 0.82
R1183:Invs UTSW 4 48,421,725 (GRCm39) missense possibly damaging 0.68
R1381:Invs UTSW 4 48,421,942 (GRCm39) nonsense probably null
R1511:Invs UTSW 4 48,382,148 (GRCm39) missense possibly damaging 0.82
R1843:Invs UTSW 4 48,422,035 (GRCm39) missense probably damaging 0.96
R1903:Invs UTSW 4 48,402,824 (GRCm39) splice site probably null
R1928:Invs UTSW 4 48,390,095 (GRCm39) missense probably damaging 1.00
R1990:Invs UTSW 4 48,392,599 (GRCm39) missense possibly damaging 0.88
R2063:Invs UTSW 4 48,396,287 (GRCm39) missense probably damaging 1.00
R2064:Invs UTSW 4 48,396,287 (GRCm39) missense probably damaging 1.00
R2065:Invs UTSW 4 48,396,287 (GRCm39) missense probably damaging 1.00
R2066:Invs UTSW 4 48,396,287 (GRCm39) missense probably damaging 1.00
R4744:Invs UTSW 4 48,397,609 (GRCm39) missense probably damaging 1.00
R4997:Invs UTSW 4 48,396,332 (GRCm39) missense probably damaging 0.98
R5011:Invs UTSW 4 48,421,807 (GRCm39) missense probably damaging 1.00
R5013:Invs UTSW 4 48,421,807 (GRCm39) missense probably damaging 1.00
R5083:Invs UTSW 4 48,396,307 (GRCm39) missense possibly damaging 0.90
R5184:Invs UTSW 4 48,283,242 (GRCm39) utr 5 prime probably benign
R5258:Invs UTSW 4 48,396,374 (GRCm39) missense possibly damaging 0.82
R5375:Invs UTSW 4 48,385,262 (GRCm39) missense probably benign 0.12
R5509:Invs UTSW 4 48,396,337 (GRCm39) missense probably damaging 1.00
R5560:Invs UTSW 4 48,416,084 (GRCm39) missense probably benign 0.00
R5748:Invs UTSW 4 48,307,823 (GRCm39) missense probably damaging 0.98
R5813:Invs UTSW 4 48,398,146 (GRCm39) missense probably damaging 0.98
R5840:Invs UTSW 4 48,396,284 (GRCm39) missense probably damaging 1.00
R5984:Invs UTSW 4 48,421,674 (GRCm39) missense probably benign 0.00
R6513:Invs UTSW 4 48,397,534 (GRCm39) missense possibly damaging 0.46
R6637:Invs UTSW 4 48,416,203 (GRCm39) splice site probably null
R6667:Invs UTSW 4 48,402,870 (GRCm39) missense possibly damaging 0.66
R6838:Invs UTSW 4 48,283,278 (GRCm39) missense possibly damaging 0.95
R6921:Invs UTSW 4 48,396,260 (GRCm39) missense possibly damaging 0.46
R6945:Invs UTSW 4 48,421,785 (GRCm39) missense probably benign 0.00
R7102:Invs UTSW 4 48,407,674 (GRCm39) missense probably benign 0.21
R7142:Invs UTSW 4 48,407,696 (GRCm39) missense probably damaging 1.00
R7263:Invs UTSW 4 48,396,381 (GRCm39) missense probably damaging 1.00
R7283:Invs UTSW 4 48,392,526 (GRCm39) splice site probably null
R7461:Invs UTSW 4 48,392,668 (GRCm39) missense probably damaging 1.00
R7503:Invs UTSW 4 48,396,347 (GRCm39) missense probably damaging 0.96
R7581:Invs UTSW 4 48,421,909 (GRCm39) missense probably benign 0.00
R7613:Invs UTSW 4 48,392,668 (GRCm39) missense probably damaging 1.00
R7861:Invs UTSW 4 48,397,559 (GRCm39) missense possibly damaging 0.50
R8316:Invs UTSW 4 48,426,199 (GRCm39) missense possibly damaging 0.68
R8321:Invs UTSW 4 48,283,267 (GRCm39) missense probably benign 0.13
R8500:Invs UTSW 4 48,422,109 (GRCm39) missense probably damaging 1.00
R8544:Invs UTSW 4 48,397,598 (GRCm39) missense probably damaging 0.96
R9171:Invs UTSW 4 48,398,149 (GRCm39) missense possibly damaging 0.90
R9663:Invs UTSW 4 48,426,218 (GRCm39) missense probably damaging 1.00
X0026:Invs UTSW 4 48,398,221 (GRCm39) missense possibly damaging 0.92
Posted On 2012-04-20