Incidental Mutation 'R7263:Invs'
| ID |
564735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Invs
|
| Ensembl Gene |
ENSMUSG00000028344 |
| Gene Name |
inversin |
| Synonyms |
|
| MMRRC Submission |
045388-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.658)
|
| Stock # |
R7263 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
48279760-48431954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 48396381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 351
(N351K)
|
| 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: N351K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: N351K
| 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 damaging
Transcript: ENSMUST00000143433
AA Change: N295K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344
AA Change: N295K
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
96% (67/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
A |
3: 121,847,843 (GRCm39) |
H55N |
probably damaging |
Het |
| Acan |
G |
T |
7: 78,742,066 (GRCm39) |
V488L |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,521,240 (GRCm39) |
E638G |
possibly damaging |
Het |
| Adamts20 |
T |
A |
15: 94,220,772 (GRCm39) |
Q1387L |
possibly damaging |
Het |
| Adamts3 |
G |
T |
5: 89,825,601 (GRCm39) |
D1079E |
probably benign |
Het |
| Barx1 |
G |
T |
13: 48,818,555 (GRCm39) |
G93C |
probably damaging |
Het |
| Carmil2 |
C |
T |
8: 106,419,677 (GRCm39) |
R828C |
probably damaging |
Het |
| Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
| Ccdc159 |
T |
C |
9: 21,843,007 (GRCm39) |
M148T |
probably benign |
Het |
| Cdk5rap1 |
T |
A |
2: 154,202,652 (GRCm39) |
N193Y |
probably benign |
Het |
| Csnk1g2 |
G |
A |
10: 80,470,332 (GRCm39) |
G15D |
probably damaging |
Het |
| Dach1 |
T |
C |
14: 98,406,295 (GRCm39) |
S151G |
probably benign |
Het |
| Elf5 |
C |
A |
2: 103,269,645 (GRCm39) |
N75K |
probably benign |
Het |
| Elp3 |
T |
C |
14: 65,802,782 (GRCm39) |
D272G |
probably damaging |
Het |
| Epb41l1 |
T |
A |
2: 156,337,043 (GRCm39) |
|
probably null |
Het |
| Epha6 |
A |
G |
16: 59,596,028 (GRCm39) |
Y888H |
probably damaging |
Het |
| Fibcd1 |
T |
C |
2: 31,707,222 (GRCm39) |
Y345C |
probably damaging |
Het |
| Gjd3 |
C |
T |
11: 102,690,963 (GRCm39) |
E347K |
possibly damaging |
Het |
| Gse1 |
A |
G |
8: 121,300,910 (GRCm39) |
D892G |
unknown |
Het |
| Gtpbp6 |
A |
T |
5: 110,251,915 (GRCm39) |
I506N |
probably benign |
Het |
| Hivep1 |
T |
A |
13: 42,311,668 (GRCm39) |
F1303I |
possibly damaging |
Het |
| Il21r |
A |
G |
7: 125,232,077 (GRCm39) |
T502A |
probably benign |
Het |
| Ints1 |
T |
C |
5: 139,749,834 (GRCm39) |
T997A |
possibly damaging |
Het |
| Iqcm |
A |
G |
8: 76,489,701 (GRCm39) |
T390A |
probably benign |
Het |
| Iqcn |
A |
G |
8: 71,163,425 (GRCm39) |
N873D |
possibly damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,632,643 (GRCm39) |
G948D |
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,566,314 (GRCm39) |
|
probably null |
Het |
| Lrrc72 |
A |
G |
12: 36,258,611 (GRCm39) |
V82A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,271,943 (GRCm39) |
L6535Q |
probably damaging |
Het |
| Ncor2 |
G |
C |
5: 125,109,196 (GRCm39) |
L585V |
|
Het |
| Nipal2 |
G |
C |
15: 34,578,904 (GRCm39) |
Y298* |
probably null |
Het |
| Nipsnap1 |
C |
T |
11: 4,832,960 (GRCm39) |
|
probably benign |
Het |
| Or12e1 |
T |
A |
2: 87,022,476 (GRCm39) |
C148* |
probably null |
Het |
| Or4x12-ps1 |
T |
C |
2: 89,916,332 (GRCm39) |
I158V |
not run |
Het |
| Or51g1 |
A |
T |
7: 102,633,524 (GRCm39) |
Y282* |
probably null |
Het |
| Pcdhga4 |
C |
T |
18: 37,819,873 (GRCm39) |
T474I |
probably benign |
Het |
| Pdp1 |
G |
T |
4: 11,960,821 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Pik3c2b |
C |
T |
1: 133,017,940 (GRCm39) |
P934L |
probably damaging |
Het |
| Pp2d1 |
A |
G |
17: 53,822,358 (GRCm39) |
I236T |
probably benign |
Het |
| Pygm |
G |
A |
19: 6,438,357 (GRCm39) |
R278H |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,520,363 (GRCm39) |
C215* |
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,015,789 (GRCm39) |
S1156P |
possibly damaging |
Het |
| Rgs9bp |
T |
C |
7: 35,284,126 (GRCm39) |
T174A |
probably damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,667 (GRCm39) |
Y130* |
probably null |
Het |
| Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
| Serpinb6e |
A |
T |
13: 34,022,923 (GRCm39) |
F153L |
probably benign |
Het |
| Slc22a1 |
A |
T |
17: 12,885,587 (GRCm39) |
Y200N |
probably damaging |
Het |
| Slc22a22 |
C |
A |
15: 57,113,107 (GRCm39) |
M377I |
probably benign |
Het |
| Slc36a4 |
A |
G |
9: 15,633,452 (GRCm39) |
|
probably null |
Het |
| Slc39a6 |
A |
G |
18: 24,734,260 (GRCm39) |
V143A |
probably benign |
Het |
| Slf2 |
G |
A |
19: 44,926,863 (GRCm39) |
|
probably null |
Het |
| Sowaha |
T |
C |
11: 53,370,485 (GRCm39) |
K84E |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,653,098 (GRCm39) |
|
probably null |
Het |
| Sphkap |
A |
T |
1: 83,254,399 (GRCm39) |
F1117I |
probably damaging |
Het |
| Tas2r113 |
T |
C |
6: 132,870,539 (GRCm39) |
I189T |
possibly damaging |
Het |
| Tescl |
T |
C |
7: 24,033,247 (GRCm39) |
E26G |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,854,150 (GRCm39) |
I1847F |
probably damaging |
Het |
| Uba1y |
T |
A |
Y: 822,200 (GRCm39) |
C178S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,175,526 (GRCm39) |
V1208D |
possibly damaging |
Het |
| Usp13 |
G |
C |
3: 32,949,000 (GRCm39) |
A446P |
probably damaging |
Het |
| Usp7 |
A |
T |
16: 8,514,588 (GRCm39) |
C722S |
possibly damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,156,535 (GRCm39) |
S280G |
probably benign |
Het |
| Vmn2r84 |
T |
C |
10: 130,225,077 (GRCm39) |
K478E |
probably damaging |
Het |
| Zfp112 |
C |
A |
7: 23,824,952 (GRCm39) |
L311I |
probably benign |
Het |
| Zfp180 |
G |
T |
7: 23,805,125 (GRCm39) |
E515* |
probably null |
Het |
| Zfp518b |
A |
G |
5: 38,829,671 (GRCm39) |
I778T |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,243,662 (GRCm39) |
H434Q |
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 |
|
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 |
|
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'- CCACACAGGTGCTCTATTACC -3'
(R):5'- TTTGGAGTAAGATCTTGGCAAACTC -3'
Sequencing Primer
(F):5'- GTAGAGATGTTCTCCACCACTGCAG -3'
(R):5'- GTAAGATCTTGGCAAACTCAAGATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation