Incidental Mutation 'R2066:Invs'
ID |
226660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Invs
|
Ensembl Gene |
ENSMUSG00000028344 |
Gene Name |
inversin |
Synonyms |
|
MMRRC Submission |
040071-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.658)
|
Stock # |
R2066 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
48279760-48431954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 48396287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 320
(L320Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030029
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030029]
[ENSMUST00000143433]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030029
AA Change: L320Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030029 Gene: ENSMUSG00000028344 AA Change: L320Q
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 damaging
Transcript: ENSMUST00000143433
AA Change: L264Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138580 Gene: ENSMUSG00000028344 AA Change: L264Q
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 |
|
Meta Mutation Damage Score |
0.1545 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (79/79) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933436I01Rik |
T |
A |
X: 66,964,308 (GRCm39) |
I184L |
probably benign |
Het |
9530002B09Rik |
T |
A |
4: 122,583,115 (GRCm39) |
|
probably benign |
Het |
Acadl |
C |
T |
1: 66,880,905 (GRCm39) |
|
probably null |
Het |
Acss1 |
G |
A |
2: 150,510,051 (GRCm39) |
Q23* |
probably null |
Het |
Afap1l1 |
A |
T |
18: 61,872,193 (GRCm39) |
|
probably null |
Het |
Akt3 |
A |
G |
1: 176,930,551 (GRCm39) |
S136P |
possibly damaging |
Het |
Amy2a1 |
T |
C |
3: 113,324,217 (GRCm39) |
I108V |
probably benign |
Het |
Ano5 |
T |
G |
7: 51,235,134 (GRCm39) |
L639R |
probably damaging |
Het |
Arhgap26 |
T |
C |
18: 39,439,781 (GRCm39) |
S71P |
probably damaging |
Het |
B3gnt2 |
A |
G |
11: 22,786,735 (GRCm39) |
L151P |
probably damaging |
Het |
Bach1 |
A |
T |
16: 87,526,513 (GRCm39) |
K658N |
probably damaging |
Het |
Bdnf |
C |
A |
2: 109,554,247 (GRCm39) |
T207K |
probably damaging |
Het |
Bod1l |
G |
T |
5: 41,962,499 (GRCm39) |
T2746K |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,847,665 (GRCm39) |
S652P |
probably benign |
Het |
Ccnt1 |
A |
T |
15: 98,449,823 (GRCm39) |
H156Q |
probably benign |
Het |
Clasp2 |
T |
A |
9: 113,735,225 (GRCm39) |
I1021N |
possibly damaging |
Het |
Cnep1r1 |
G |
T |
8: 88,845,445 (GRCm39) |
|
probably benign |
Het |
Cntn6 |
C |
T |
6: 104,838,783 (GRCm39) |
R946* |
probably null |
Het |
Dnaaf3 |
T |
C |
7: 4,526,798 (GRCm39) |
I426M |
possibly damaging |
Het |
Dnajc13 |
A |
T |
9: 104,098,640 (GRCm39) |
I471N |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
Emx2 |
A |
G |
19: 59,450,130 (GRCm39) |
N149S |
probably benign |
Het |
Fbln7 |
G |
T |
2: 128,719,386 (GRCm39) |
R61L |
probably damaging |
Het |
Fgb |
C |
A |
3: 82,956,996 (GRCm39) |
D25Y |
probably benign |
Het |
Filip1 |
A |
G |
9: 79,727,498 (GRCm39) |
S374P |
probably damaging |
Het |
Fry |
T |
A |
5: 150,293,584 (GRCm39) |
|
probably benign |
Het |
Gm12695 |
T |
C |
4: 96,657,963 (GRCm39) |
T69A |
probably benign |
Het |
Gm2959 |
A |
G |
14: 42,235,658 (GRCm39) |
|
noncoding transcript |
Het |
Gm9912 |
T |
C |
3: 148,890,795 (GRCm39) |
T113A |
unknown |
Het |
Hdlbp |
A |
G |
1: 93,349,602 (GRCm39) |
|
probably benign |
Het |
Hunk |
G |
A |
16: 90,278,133 (GRCm39) |
|
probably null |
Het |
Ifnb1 |
T |
A |
4: 88,440,996 (GRCm39) |
I6F |
possibly damaging |
Het |
Il2rg |
A |
G |
X: 100,311,416 (GRCm39) |
L57P |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,753,251 (GRCm39) |
V720A |
probably benign |
Het |
Jpt2 |
G |
A |
17: 25,167,713 (GRCm39) |
Q79* |
probably null |
Het |
Lingo2 |
A |
G |
4: 35,709,179 (GRCm39) |
L267P |
probably benign |
Het |
Lonp2 |
A |
G |
8: 87,392,403 (GRCm39) |
T490A |
probably damaging |
Het |
Meiob |
G |
T |
17: 25,037,290 (GRCm39) |
R56L |
probably damaging |
Het |
Mindy3 |
A |
T |
2: 12,424,060 (GRCm39) |
S2T |
probably damaging |
Het |
Mrm3 |
A |
T |
11: 76,141,147 (GRCm39) |
D385V |
probably damaging |
Het |
Mrto4 |
T |
C |
4: 139,076,334 (GRCm39) |
K86E |
probably benign |
Het |
Naf1 |
A |
G |
8: 67,340,432 (GRCm39) |
D414G |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,875,567 (GRCm39) |
V1701A |
probably damaging |
Het |
Nipal4 |
T |
G |
11: 46,047,622 (GRCm39) |
D104A |
probably damaging |
Het |
Npas4 |
A |
G |
19: 5,037,442 (GRCm39) |
V284A |
probably damaging |
Het |
Nup133 |
C |
A |
8: 124,641,314 (GRCm39) |
D869Y |
probably damaging |
Het |
Obscn |
G |
A |
11: 59,026,558 (GRCm39) |
A215V |
possibly damaging |
Het |
Or4c113 |
A |
G |
2: 88,885,243 (GRCm39) |
Y176H |
probably damaging |
Het |
Or8b12i |
G |
T |
9: 20,082,850 (GRCm39) |
Q6K |
probably benign |
Het |
Or8g24 |
T |
C |
9: 38,989,510 (GRCm39) |
Y177C |
probably damaging |
Het |
Pgs1 |
G |
A |
11: 117,905,396 (GRCm39) |
|
probably benign |
Het |
Phc2 |
T |
C |
4: 128,640,929 (GRCm39) |
F672S |
probably damaging |
Het |
Phldb2 |
A |
T |
16: 45,591,121 (GRCm39) |
L970Q |
probably damaging |
Het |
Plxnb3 |
T |
A |
X: 72,815,357 (GRCm39) |
Y1845* |
probably null |
Het |
Ppip5k1 |
A |
G |
2: 121,173,352 (GRCm39) |
|
probably benign |
Het |
Prune2 |
A |
G |
19: 17,098,042 (GRCm39) |
D1182G |
possibly damaging |
Het |
Psg25 |
G |
A |
7: 18,263,487 (GRCm39) |
T112I |
probably damaging |
Het |
Sec61g |
T |
C |
11: 16,458,124 (GRCm39) |
T24A |
probably benign |
Het |
Skint1 |
T |
A |
4: 111,882,730 (GRCm39) |
V258D |
probably benign |
Het |
Sorbs1 |
T |
C |
19: 40,353,472 (GRCm39) |
|
probably null |
Het |
Sox2 |
C |
A |
3: 34,705,456 (GRCm39) |
Q298K |
possibly damaging |
Het |
Spatc1 |
T |
A |
15: 76,167,737 (GRCm39) |
|
probably null |
Het |
Szt2 |
T |
C |
4: 118,231,177 (GRCm39) |
M2529V |
unknown |
Het |
Thrap3 |
T |
C |
4: 126,069,189 (GRCm39) |
Y654C |
possibly damaging |
Het |
Tpp2 |
T |
G |
1: 44,017,598 (GRCm39) |
I734S |
possibly damaging |
Het |
Troap |
T |
C |
15: 98,980,344 (GRCm39) |
L508P |
probably benign |
Het |
Ttc28 |
C |
A |
5: 111,373,799 (GRCm39) |
F1078L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,544,717 (GRCm39) |
N32795S |
probably damaging |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Ugt2b36 |
T |
C |
5: 87,240,100 (GRCm39) |
E95G |
probably benign |
Het |
Vmn1r55 |
A |
G |
7: 5,150,048 (GRCm39) |
V125A |
possibly damaging |
Het |
Vstm2a |
A |
T |
11: 16,211,483 (GRCm39) |
I98F |
probably benign |
Het |
Zdhhc13 |
T |
A |
7: 48,466,175 (GRCm39) |
V284D |
probably benign |
Het |
Zfp668 |
C |
A |
7: 127,466,203 (GRCm39) |
R327L |
probably damaging |
Het |
Zgrf1 |
T |
C |
3: 127,406,999 (GRCm39) |
C1589R |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCAAATGTAATGGTGTTGCATGAG -3'
(R):5'- ACTTGGTGGCACCTTTCAGC -3'
Sequencing Primer
(F):5'- TGTTCTTGAAGTGTTCCAGAAAC -3'
(R):5'- GCACCTTTCAGCACCCG -3'
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Posted On |
2014-09-17 |