Incidental Mutation 'R5013:Invs'
| ID |
390623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Invs
|
| Ensembl Gene |
ENSMUSG00000028344 |
| Gene Name |
inversin |
| Synonyms |
|
| MMRRC Submission |
042604-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.658)
|
| Stock # |
R5013 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
48279760-48431954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48421807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 813
(R813Q)
|
| 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: R813Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: R813Q
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (86/86) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,303,926 (GRCm39) |
L2117P |
probably damaging |
Het |
| Ago3 |
A |
T |
4: 126,262,391 (GRCm39) |
S386R |
probably benign |
Het |
| Agxt |
T |
C |
1: 93,069,779 (GRCm39) |
|
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,611,675 (GRCm39) |
I565N |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,572,300 (GRCm39) |
T70I |
probably damaging |
Het |
| Anxa1 |
A |
G |
19: 20,360,287 (GRCm39) |
V108A |
probably benign |
Het |
| Aqp3 |
A |
G |
4: 41,093,819 (GRCm39) |
F225L |
probably damaging |
Het |
| Atp11b |
T |
G |
3: 35,888,532 (GRCm39) |
I934R |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,169,566 (GRCm39) |
L42Q |
probably damaging |
Het |
| Bcr |
A |
G |
10: 74,960,898 (GRCm39) |
D443G |
probably benign |
Het |
| Cbfa2t3 |
G |
T |
8: 123,365,598 (GRCm39) |
D211E |
possibly damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,538,036 (GRCm39) |
L96Q |
probably damaging |
Het |
| Cdh16 |
A |
G |
8: 105,343,660 (GRCm39) |
I612T |
probably damaging |
Het |
| Clcn2 |
G |
A |
16: 20,525,965 (GRCm39) |
P785S |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,513,983 (GRCm39) |
I743T |
possibly damaging |
Het |
| Dnah12 |
T |
A |
14: 26,431,326 (GRCm39) |
D381E |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnajc2 |
G |
A |
5: 21,962,771 (GRCm39) |
R521* |
probably null |
Het |
| Dst |
T |
C |
1: 34,289,728 (GRCm39) |
V5776A |
probably damaging |
Het |
| Eddm13 |
G |
A |
7: 6,269,332 (GRCm39) |
|
probably benign |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,512 (GRCm39) |
K16* |
probably null |
Het |
| Ercc4 |
G |
A |
16: 12,941,445 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,254,582 (GRCm39) |
N417Y |
probably damaging |
Het |
| Fam149b |
T |
A |
14: 20,413,439 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Fbxw17 |
C |
T |
13: 50,586,506 (GRCm39) |
R403C |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,873,135 (GRCm39) |
Y1315C |
probably damaging |
Het |
| Gatd1 |
G |
T |
7: 140,988,861 (GRCm39) |
|
probably benign |
Het |
| Gm10330 |
A |
T |
12: 23,829,961 (GRCm39) |
Y73* |
probably null |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsn |
T |
A |
2: 35,188,933 (GRCm39) |
Y440N |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,446,220 (GRCm39) |
E180K |
probably benign |
Het |
| Ilk |
A |
G |
7: 105,391,456 (GRCm39) |
D374G |
probably damaging |
Het |
| Itln1 |
T |
A |
1: 171,360,958 (GRCm39) |
K45* |
probably null |
Het |
| Ivd |
A |
G |
2: 118,710,946 (GRCm39) |
Y385C |
probably damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,860,492 (GRCm39) |
N170S |
probably benign |
Het |
| Klk1b9 |
A |
C |
7: 43,445,419 (GRCm39) |
D203A |
probably damaging |
Het |
| Lamtor3 |
A |
T |
3: 137,630,909 (GRCm39) |
R27S |
probably damaging |
Het |
| Lcn6 |
T |
A |
2: 25,567,082 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
T |
C |
10: 103,025,784 (GRCm39) |
D946G |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,322,699 (GRCm39) |
D332G |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,382,493 (GRCm39) |
I1523T |
probably damaging |
Het |
| Nagpa |
A |
T |
16: 5,013,743 (GRCm39) |
M365K |
probably benign |
Het |
| Nckap5l |
G |
T |
15: 99,324,457 (GRCm39) |
P682Q |
probably benign |
Het |
| Nfix |
A |
G |
8: 85,498,713 (GRCm39) |
F87L |
possibly damaging |
Het |
| Nup155 |
C |
A |
15: 8,153,722 (GRCm39) |
T421K |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,067 (GRCm39) |
N171K |
probably damaging |
Het |
| Or5ae2 |
T |
C |
7: 84,505,646 (GRCm39) |
V23A |
probably damaging |
Het |
| Or7c74 |
A |
G |
2: 37,160,937 (GRCm39) |
|
noncoding transcript |
Het |
| Or8k53 |
A |
T |
2: 86,177,647 (GRCm39) |
F154L |
probably benign |
Het |
| Pate14 |
T |
C |
9: 36,549,120 (GRCm39) |
N47D |
probably benign |
Het |
| Pds5a |
A |
C |
5: 65,792,680 (GRCm39) |
V751G |
probably benign |
Het |
| Podnl1 |
G |
T |
8: 84,852,965 (GRCm39) |
C45F |
probably damaging |
Het |
| Psme2b |
C |
T |
11: 48,836,654 (GRCm39) |
E98K |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,427,713 (GRCm39) |
I764N |
probably damaging |
Het |
| Rbm33 |
A |
T |
5: 28,547,409 (GRCm39) |
Q193L |
probably benign |
Het |
| Rnasel |
C |
A |
1: 153,629,677 (GRCm39) |
H64Q |
probably damaging |
Het |
| Ryr1 |
G |
A |
7: 28,802,234 (GRCm39) |
|
probably null |
Het |
| Scamp3 |
A |
G |
3: 89,088,216 (GRCm39) |
|
probably benign |
Het |
| Sema6b |
C |
T |
17: 56,439,497 (GRCm39) |
|
probably null |
Het |
| Six4 |
A |
C |
12: 73,150,400 (GRCm39) |
I715R |
probably benign |
Het |
| Slc28a2 |
T |
C |
2: 122,288,371 (GRCm39) |
M554T |
possibly damaging |
Het |
| Snhg11 |
T |
C |
2: 158,218,872 (GRCm39) |
|
probably benign |
Het |
| Spdya |
A |
T |
17: 71,869,499 (GRCm39) |
Y98F |
possibly damaging |
Het |
| Tert |
T |
C |
13: 73,794,428 (GRCm39) |
|
probably null |
Het |
| Tex22 |
G |
A |
12: 113,052,104 (GRCm39) |
C54Y |
probably damaging |
Het |
| Tmem198b |
C |
T |
10: 128,637,942 (GRCm39) |
R207H |
probably damaging |
Het |
| Trbv13-1 |
C |
T |
6: 41,093,189 (GRCm39) |
Q42* |
probably null |
Het |
| Trcg1 |
T |
C |
9: 57,149,562 (GRCm39) |
L378P |
probably damaging |
Het |
| Trpv5 |
T |
G |
6: 41,636,647 (GRCm39) |
D433A |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,545,702 (GRCm39) |
N654D |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Vwa7 |
A |
T |
17: 35,241,709 (GRCm39) |
Y448F |
probably damaging |
Het |
| Zan |
A |
C |
5: 137,382,099 (GRCm39) |
D5149E |
unknown |
Het |
| Zfp106 |
A |
G |
2: 120,341,015 (GRCm39) |
W1832R |
probably damaging |
Het |
| Zfp189 |
G |
A |
4: 49,530,438 (GRCm39) |
G514S |
probably damaging |
Het |
| Zhx1 |
G |
A |
15: 57,917,538 (GRCm39) |
T236I |
possibly 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 |
|
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 |
|
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'- GTGAGACCAATGGCAAACAC -3'
(R):5'- GCACAGATGTCCTCATAAAGCTG -3'
Sequencing Primer
(F):5'- CCTTGTGCACTGGGTCAG -3'
(R):5'- AGATGTCCTCATAAAGCTGCTTGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation