Incidental Mutation 'IGL03286:Invs'
| ID |
415737 |
| 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)
|
| Stock # |
IGL03286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
48279760-48431954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48382261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 144
(T144A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030029]
[ENSMUST00000143433]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030029
AA Change: T144A
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: T144A
| 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 |
noncoding transcript
Transcript: ENSMUST00000129480
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143433
AA Change: T144A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344
AA Change: T144A
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
G |
A |
1: 58,088,543 (GRCm39) |
G110S |
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,170,816 (GRCm39) |
S1548P |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,005,397 (GRCm39) |
D147G |
probably benign |
Het |
| Calcoco2 |
A |
G |
11: 95,994,098 (GRCm39) |
V116A |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,469,952 (GRCm39) |
M1842L |
probably benign |
Het |
| Comt |
T |
C |
16: 18,230,490 (GRCm39) |
D73G |
probably damaging |
Het |
| Ctnna1 |
A |
G |
18: 35,308,206 (GRCm39) |
I175M |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,060,068 (GRCm39) |
Y2839N |
probably damaging |
Het |
| Dph7 |
T |
A |
2: 24,856,628 (GRCm39) |
H193Q |
probably damaging |
Het |
| Eif2b5 |
A |
G |
16: 20,321,012 (GRCm39) |
D258G |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,826,762 (GRCm39) |
D630G |
probably damaging |
Het |
| Ext2 |
C |
T |
2: 93,537,617 (GRCm39) |
V590M |
probably damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,908,982 (GRCm39) |
|
probably null |
Het |
| Gm13272 |
A |
G |
4: 88,698,586 (GRCm39) |
Q167R |
probably benign |
Het |
| Gm21834 |
A |
G |
17: 58,048,922 (GRCm39) |
V98A |
possibly damaging |
Het |
| Grid1 |
T |
A |
14: 35,242,642 (GRCm39) |
|
probably benign |
Het |
| H2-DMa |
T |
A |
17: 34,356,083 (GRCm39) |
|
probably null |
Het |
| Ighv5-17 |
T |
G |
12: 113,822,797 (GRCm39) |
E108A |
possibly damaging |
Het |
| Ipo9 |
A |
G |
1: 135,334,816 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,119,706 (GRCm39) |
Y504F |
probably damaging |
Het |
| Krt5 |
A |
G |
15: 101,615,983 (GRCm39) |
F544S |
unknown |
Het |
| Larp4 |
A |
G |
15: 99,883,967 (GRCm39) |
Y67C |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,990,095 (GRCm39) |
M261T |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,382,274 (GRCm39) |
C1367S |
probably benign |
Het |
| Nox4 |
T |
A |
7: 87,019,349 (GRCm39) |
|
probably benign |
Het |
| Noxa1 |
A |
G |
2: 24,975,732 (GRCm39) |
|
probably null |
Het |
| Or5b98 |
A |
C |
19: 12,931,532 (GRCm39) |
Y193S |
probably benign |
Het |
| Or6p1 |
A |
C |
1: 174,258,743 (GRCm39) |
I250L |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,091,040 (GRCm39) |
|
probably benign |
Het |
| Pdlim2 |
C |
T |
14: 70,411,925 (GRCm39) |
G36S |
possibly damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,361,658 (GRCm39) |
S262P |
possibly damaging |
Het |
| Pnpla6 |
C |
A |
8: 3,581,473 (GRCm39) |
T582K |
probably damaging |
Het |
| Rap1b |
A |
T |
10: 117,654,480 (GRCm39) |
L120* |
probably null |
Het |
| Rft1 |
C |
T |
14: 30,383,323 (GRCm39) |
T121I |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,107,920 (GRCm39) |
I1613T |
probably damaging |
Het |
| Slc47a2 |
T |
G |
11: 61,233,293 (GRCm39) |
E79A |
possibly damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,619,928 (GRCm39) |
I85V |
probably null |
Het |
| Slfn8 |
A |
T |
11: 82,904,294 (GRCm39) |
F365L |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,668,853 (GRCm39) |
|
probably benign |
Het |
| Sntb1 |
T |
C |
15: 55,655,442 (GRCm39) |
D258G |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,332,858 (GRCm39) |
I520T |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,797,860 (GRCm39) |
S1896P |
probably damaging |
Het |
| Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,881,283 (GRCm39) |
|
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,662,067 (GRCm39) |
|
probably benign |
Het |
| Tchhl1 |
C |
T |
3: 93,378,430 (GRCm39) |
A378V |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,352,760 (GRCm39) |
F1012Y |
probably damaging |
Het |
| Tuba8 |
A |
G |
6: 121,199,913 (GRCm39) |
D199G |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,804,468 (GRCm39) |
T151S |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,346,654 (GRCm39) |
I2965T |
probably damaging |
Het |
| Zfp688 |
T |
A |
7: 127,018,703 (GRCm39) |
M141L |
probably benign |
Het |
|
| Other mutations in Invs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Invs
|
APN |
4 |
48,402,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00487:Invs
|
APN |
4 |
48,407,689 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation