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 |
|
Is this an essential gene? |
Possibly essential
(E-score: 0.683)
|
Stock # |
IGL00487
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
48279760-48431954 bp(+) (GRCm38) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 48407689 bp (GRCm38)
|
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*
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,309,450 |
|
probably null |
Het |
Dusp23 |
T |
C |
1: 172,631,632 |
|
probably benign |
Het |
Mak16 |
T |
C |
8: 31,166,750 |
N9D |
probably benign |
Het |
Mrps7 |
T |
C |
11: 115,604,858 |
I74T |
possibly damaging |
Het |
Nlrp4a |
T |
G |
7: 26,449,985 |
V339G |
possibly damaging |
Het |
Nucb1 |
A |
G |
7: 45,501,651 |
L102P |
probably damaging |
Het |
Pdp2 |
T |
C |
8: 104,594,197 |
M226T |
probably benign |
Het |
Pik3r2 |
T |
C |
8: 70,770,429 |
D449G |
probably damaging |
Het |
Rnf157 |
G |
A |
11: 116,362,355 |
P76S |
probably benign |
Het |
Senp6 |
C |
A |
9: 80,113,838 |
Q267K |
probably damaging |
Het |
Slc9a2 |
A |
G |
1: 40,742,658 |
E349G |
probably damaging |
Het |
Snx14 |
G |
T |
9: 88,402,190 |
S475Y |
probably damaging |
Het |
Vmn1r180 |
A |
T |
7: 23,952,523 |
H37L |
probably benign |
Het |
Wdr66 |
T |
G |
5: 123,274,177 |
I84S |
probably damaging |
Het |
Xrn1 |
A |
T |
9: 96,038,949 |
H1371L |
probably benign |
Het |
|
Other mutations in Invs |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00428:Invs
|
APN |
4 |
48402909 |
missense |
probably damaging |
0.98 |
IGL01487:Invs
|
APN |
4 |
48398136 |
missense |
probably benign |
0.26 |
IGL01696:Invs
|
APN |
4 |
48425997 |
missense |
probably damaging |
1.00 |
IGL02238:Invs
|
APN |
4 |
48390029 |
missense |
probably damaging |
1.00 |
IGL03286:Invs
|
APN |
4 |
48382261 |
missense |
probably benign |
0.26 |
R0645:Invs
|
UTSW |
4 |
48407653 |
missense |
probably benign |
0.00 |
R0661:Invs
|
UTSW |
4 |
48421861 |
missense |
probably benign |
|
R0698:Invs
|
UTSW |
4 |
48396364 |
missense |
probably benign |
0.04 |
R0763:Invs
|
UTSW |
4 |
48392628 |
missense |
possibly damaging |
0.82 |
R1183:Invs
|
UTSW |
4 |
48421725 |
missense |
possibly damaging |
0.68 |
R1381:Invs
|
UTSW |
4 |
48421942 |
nonsense |
probably null |
|
R1511:Invs
|
UTSW |
4 |
48382148 |
missense |
possibly damaging |
0.82 |
R1843:Invs
|
UTSW |
4 |
48422035 |
missense |
probably damaging |
0.96 |
R1903:Invs
|
UTSW |
4 |
48402824 |
splice site |
probably null |
|
R1928:Invs
|
UTSW |
4 |
48390095 |
missense |
probably damaging |
1.00 |
R1990:Invs
|
UTSW |
4 |
48392599 |
missense |
possibly damaging |
0.88 |
R2063:Invs
|
UTSW |
4 |
48396287 |
missense |
probably damaging |
1.00 |
R2064:Invs
|
UTSW |
4 |
48396287 |
missense |
probably damaging |
1.00 |
R2065:Invs
|
UTSW |
4 |
48396287 |
missense |
probably damaging |
1.00 |
R2066:Invs
|
UTSW |
4 |
48396287 |
missense |
probably damaging |
1.00 |
R4744:Invs
|
UTSW |
4 |
48397609 |
missense |
probably damaging |
1.00 |
R4997:Invs
|
UTSW |
4 |
48396332 |
missense |
probably damaging |
0.98 |
R5011:Invs
|
UTSW |
4 |
48421807 |
missense |
probably damaging |
1.00 |
R5013:Invs
|
UTSW |
4 |
48421807 |
missense |
probably damaging |
1.00 |
R5083:Invs
|
UTSW |
4 |
48396307 |
missense |
possibly damaging |
0.90 |
R5184:Invs
|
UTSW |
4 |
48283242 |
utr 5 prime |
probably benign |
|
R5258:Invs
|
UTSW |
4 |
48396374 |
missense |
possibly damaging |
0.82 |
R5375:Invs
|
UTSW |
4 |
48385262 |
missense |
probably benign |
0.12 |
R5509:Invs
|
UTSW |
4 |
48396337 |
missense |
probably damaging |
1.00 |
R5560:Invs
|
UTSW |
4 |
48416084 |
missense |
probably benign |
0.00 |
R5748:Invs
|
UTSW |
4 |
48307823 |
missense |
probably damaging |
0.98 |
R5813:Invs
|
UTSW |
4 |
48398146 |
missense |
probably damaging |
0.98 |
R5840:Invs
|
UTSW |
4 |
48396284 |
missense |
probably damaging |
1.00 |
R5984:Invs
|
UTSW |
4 |
48421674 |
missense |
probably benign |
0.00 |
R6513:Invs
|
UTSW |
4 |
48397534 |
missense |
possibly damaging |
0.46 |
R6637:Invs
|
UTSW |
4 |
48416203 |
splice site |
probably null |
|
R6667:Invs
|
UTSW |
4 |
48402870 |
missense |
possibly damaging |
0.66 |
R6838:Invs
|
UTSW |
4 |
48283278 |
missense |
possibly damaging |
0.95 |
R6921:Invs
|
UTSW |
4 |
48396260 |
missense |
possibly damaging |
0.46 |
R6945:Invs
|
UTSW |
4 |
48421785 |
missense |
probably benign |
0.00 |
R7102:Invs
|
UTSW |
4 |
48407674 |
missense |
probably benign |
0.21 |
R7142:Invs
|
UTSW |
4 |
48407696 |
missense |
probably damaging |
1.00 |
R7263:Invs
|
UTSW |
4 |
48396381 |
missense |
probably damaging |
1.00 |
R7283:Invs
|
UTSW |
4 |
48392526 |
splice site |
probably null |
|
R7461:Invs
|
UTSW |
4 |
48392668 |
missense |
probably damaging |
1.00 |
R7503:Invs
|
UTSW |
4 |
48396347 |
missense |
probably damaging |
0.96 |
R7581:Invs
|
UTSW |
4 |
48421909 |
missense |
probably benign |
0.00 |
R7613:Invs
|
UTSW |
4 |
48392668 |
missense |
probably damaging |
1.00 |
R7861:Invs
|
UTSW |
4 |
48397559 |
missense |
possibly damaging |
0.50 |
R8316:Invs
|
UTSW |
4 |
48426199 |
missense |
possibly damaging |
0.68 |
R8321:Invs
|
UTSW |
4 |
48283267 |
missense |
probably benign |
0.13 |
R8500:Invs
|
UTSW |
4 |
48422109 |
missense |
probably damaging |
1.00 |
R8544:Invs
|
UTSW |
4 |
48397598 |
missense |
probably damaging |
0.96 |
R9171:Invs
|
UTSW |
4 |
48398149 |
missense |
possibly damaging |
0.90 |
R9663:Invs
|
UTSW |
4 |
48426218 |
missense |
probably damaging |
1.00 |
X0026:Invs
|
UTSW |
4 |
48398221 |
missense |
possibly damaging |
0.92 |
|
Posted On |
2012-04-20 |