Incidental Mutation 'R0698:Invs'
| ID |
62901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Invs
|
| Ensembl Gene |
ENSMUSG00000028344 |
| Gene Name |
inversin |
| Synonyms |
|
| MMRRC Submission |
038882-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.658)
|
| Stock # |
R0698 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
48279760-48431954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 48396364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 346
(S346A)
|
| 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: S346A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: S346A
| 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: S290A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344
AA Change: S290A
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
C |
T |
16: 35,110,452 (GRCm39) |
T873M |
possibly damaging |
Het |
| Ap4e1 |
G |
A |
2: 126,905,283 (GRCm39) |
E985K |
probably benign |
Het |
| Arhgap18 |
T |
C |
10: 26,788,625 (GRCm39) |
I579T |
probably damaging |
Het |
| Arhgef11 |
G |
T |
3: 87,640,766 (GRCm39) |
A1308S |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,275 (GRCm39) |
E342G |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,426,539 (GRCm39) |
E573G |
probably damaging |
Het |
| Baz1b |
T |
C |
5: 135,227,075 (GRCm39) |
V92A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,552,114 (GRCm39) |
V459A |
unknown |
Het |
| Cpne4 |
T |
C |
9: 104,802,994 (GRCm39) |
S213P |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,507,895 (GRCm39) |
Q1672L |
probably damaging |
Het |
| Grm8 |
C |
T |
6: 27,363,913 (GRCm39) |
C534Y |
probably damaging |
Het |
| Ints7 |
A |
G |
1: 191,326,576 (GRCm39) |
M183V |
probably damaging |
Het |
| Krtap9-3 |
C |
A |
11: 99,488,663 (GRCm39) |
C73F |
probably damaging |
Het |
| Lrrtm4 |
T |
C |
6: 79,999,911 (GRCm39) |
L441P |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,897,856 (GRCm39) |
R81* |
probably null |
Het |
| Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
| Necab1 |
T |
C |
4: 15,005,041 (GRCm39) |
N141S |
probably benign |
Het |
| Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,430,419 (GRCm39) |
E797D |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,762,530 (GRCm39) |
Y3668H |
unknown |
Het |
| Peg10 |
T |
A |
6: 4,756,835 (GRCm39) |
|
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,145,764 (GRCm39) |
I723V |
probably benign |
Het |
| Ptprn2 |
C |
T |
12: 116,685,750 (GRCm39) |
R70* |
probably null |
Het |
| R3hdm1 |
A |
G |
1: 128,109,476 (GRCm39) |
Y309C |
probably damaging |
Het |
| Rab13 |
C |
T |
3: 90,132,043 (GRCm39) |
T69M |
probably damaging |
Het |
| Rpl32 |
T |
C |
6: 115,782,551 (GRCm39) |
N126S |
probably benign |
Het |
| Sis |
C |
A |
3: 72,817,831 (GRCm39) |
A1461S |
probably damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,205,870 (GRCm39) |
D439G |
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,008,670 (GRCm39) |
L258P |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,757,503 (GRCm39) |
T882A |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tada3 |
A |
T |
6: 113,343,968 (GRCm39) |
L227Q |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,173,145 (GRCm39) |
S1706T |
probably benign |
Het |
| Ttc6 |
G |
A |
12: 57,720,002 (GRCm39) |
V858I |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,412,730 (GRCm39) |
M1477K |
probably benign |
Het |
| Vps13c |
C |
A |
9: 67,797,005 (GRCm39) |
A464E |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,193,407 (GRCm39) |
|
probably null |
Het |
| Zcwpw1 |
G |
A |
5: 137,815,783 (GRCm39) |
E429K |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGAACCACACAGGTGCTCTATTAC -3'
(R):5'- GGTGTAGCCAAAGCTATAAACCAGGTG -3'
Sequencing Primer
(F):5'- ATGTAGAGATGTTCTCCACCACTG -3'
(R):5'- CCTGGTAGAGACACTAATTTTAGCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation