Incidental Mutation 'R7581:Invs'
| ID |
586730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Invs
|
| Ensembl Gene |
ENSMUSG00000028344 |
| Gene Name |
inversin |
| Synonyms |
|
| MMRRC Submission |
045634-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.670)
|
| Stock # |
R7581 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
48279760-48431954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48421909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 847
(V847A)
|
| 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: V847A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: V847A
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (47/48) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
C |
6: 92,914,319 (GRCm39) |
D196E |
probably benign |
Het |
| Adnp |
A |
T |
2: 168,025,386 (GRCm39) |
D636E |
probably damaging |
Het |
| Afdn |
T |
C |
17: 14,069,500 (GRCm39) |
V723A |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,407,662 (GRCm39) |
F1897I |
unknown |
Het |
| Atp6v0b |
T |
C |
4: 117,742,483 (GRCm39) |
M137V |
probably benign |
Het |
| Bicd1 |
T |
A |
6: 149,420,502 (GRCm39) |
I784N |
probably damaging |
Het |
| Cckbr |
A |
G |
7: 105,082,993 (GRCm39) |
T119A |
probably benign |
Het |
| Creb5 |
T |
C |
6: 53,658,222 (GRCm39) |
L184P |
probably damaging |
Het |
| Cyp2a22 |
T |
G |
7: 26,637,573 (GRCm39) |
K141Q |
possibly damaging |
Het |
| D16Ertd472e |
T |
C |
16: 78,343,445 (GRCm39) |
T219A |
possibly damaging |
Het |
| Ep400 |
A |
T |
5: 110,903,891 (GRCm39) |
L236Q |
unknown |
Het |
| Exph5 |
A |
G |
9: 53,283,857 (GRCm39) |
S313G |
possibly damaging |
Het |
| Gm10024 |
T |
C |
10: 77,547,397 (GRCm39) |
V36A |
unknown |
Het |
| Gm5493 |
A |
G |
17: 22,966,247 (GRCm39) |
E44G |
probably damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,680,017 (GRCm39) |
|
probably null |
Het |
| Kif18b |
C |
A |
11: 102,805,548 (GRCm39) |
Q236H |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,954,818 (GRCm39) |
T2079A |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,200,538 (GRCm39) |
S89P |
probably damaging |
Het |
| Maml3 |
A |
C |
3: 51,764,189 (GRCm39) |
D258E |
probably benign |
Het |
| Mdga2 |
A |
T |
12: 66,553,029 (GRCm39) |
M868K |
probably damaging |
Het |
| Mtss2 |
A |
G |
8: 111,452,845 (GRCm39) |
E30G |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,556,910 (GRCm39) |
I3128V |
unknown |
Het |
| Mug2 |
C |
T |
6: 122,040,670 (GRCm39) |
T740I |
probably damaging |
Het |
| Noc2l |
T |
C |
4: 156,329,906 (GRCm39) |
V612A |
probably benign |
Het |
| Or10g9 |
A |
T |
9: 39,911,718 (GRCm39) |
D268E |
probably damaging |
Het |
| Or6k2 |
G |
A |
1: 173,986,337 (GRCm39) |
|
probably null |
Het |
| Padi6 |
T |
C |
4: 140,456,240 (GRCm39) |
T585A |
probably benign |
Het |
| Pcdhga1 |
A |
T |
18: 37,795,230 (GRCm39) |
N78I |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,293,894 (GRCm39) |
Y156C |
probably damaging |
Het |
| Peg10 |
GCACATCAGGATCC |
GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
C |
T |
16: 17,118,924 (GRCm39) |
V1307I |
|
Het |
| Pip5k1c |
A |
G |
10: 81,144,794 (GRCm39) |
N212D |
probably damaging |
Het |
| Plekha1 |
A |
G |
7: 130,512,595 (GRCm39) |
T264A |
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,474,551 (GRCm39) |
R463G |
probably damaging |
Het |
| Psd2 |
T |
G |
18: 36,113,050 (GRCm39) |
D248E |
probably benign |
Het |
| Rag1 |
G |
T |
2: 101,473,649 (GRCm39) |
Q498K |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,583,372 (GRCm39) |
I2853T |
probably damaging |
Het |
| Selenow |
G |
T |
7: 15,656,307 (GRCm39) |
|
probably null |
Het |
| Sned1 |
C |
T |
1: 93,184,267 (GRCm39) |
S165F |
probably benign |
Het |
| Spata31d1a |
A |
G |
13: 59,851,953 (GRCm39) |
|
probably null |
Het |
| Taar4 |
C |
A |
10: 23,837,052 (GRCm39) |
H221N |
probably damaging |
Het |
| Tgm6 |
A |
T |
2: 129,983,205 (GRCm39) |
R265W |
probably damaging |
Het |
| Trpm1 |
A |
T |
7: 63,854,303 (GRCm39) |
Q275L |
probably benign |
Het |
| Ulk3 |
T |
C |
9: 57,499,325 (GRCm39) |
L173P |
probably damaging |
Het |
| Urah |
A |
T |
7: 140,415,540 (GRCm39) |
T3S |
probably benign |
Het |
| Vmn1r149 |
A |
T |
7: 22,137,329 (GRCm39) |
V109D |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,474,999 (GRCm39) |
|
probably benign |
Het |
| Zfp1007 |
G |
A |
5: 109,838,654 (GRCm39) |
|
probably benign |
Het |
| Zglp1 |
T |
A |
9: 20,974,004 (GRCm39) |
K227N |
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 |
|
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 |
|
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'- CAGTTGCAAGTGCTTCCCAG -3'
(R):5'- TCTGGATTATCAGCAGGCGC -3'
Sequencing Primer
(F):5'- GCAGGACCACCCCAGGAAG -3'
(R):5'- CTGCTCTACAGGAAGAAGGTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation