Incidental Mutation 'R8500:Invs'
| ID |
658462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Invs
|
| Ensembl Gene |
ENSMUSG00000028344 |
| Gene Name |
inversin |
| Synonyms |
|
| MMRRC Submission |
067942-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.658)
|
| Stock # |
R8500 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
48279760-48431954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48422109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 914
(K914E)
|
| 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: K914E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: K914E
| 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: 99.8%
- 20x: 99.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,871,836 (GRCm39) |
S56N |
probably benign |
Het |
| Atg16l2 |
T |
G |
7: 100,939,473 (GRCm39) |
D542A |
probably damaging |
Het |
| Blm |
A |
G |
7: 80,105,032 (GRCm39) |
L1412P |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,052,097 (GRCm39) |
D314G |
probably damaging |
Het |
| Cela1 |
T |
A |
15: 100,573,213 (GRCm39) |
M39L |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,517,133 (GRCm39) |
D2849V |
probably damaging |
Het |
| Fam53c |
A |
G |
18: 34,901,854 (GRCm39) |
E257G |
probably damaging |
Het |
| Fmo9 |
A |
T |
1: 166,502,039 (GRCm39) |
N144K |
probably damaging |
Het |
| Gabrd |
T |
A |
4: 155,470,148 (GRCm39) |
M354L |
probably benign |
Het |
| Gm5773 |
A |
T |
3: 93,680,835 (GRCm39) |
D169V |
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,599,774 (GRCm39) |
F703L |
probably damaging |
Het |
| Grm3 |
A |
T |
5: 9,561,726 (GRCm39) |
I708N |
probably benign |
Het |
| Hlcs |
G |
A |
16: 94,063,617 (GRCm39) |
P481L |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,314,311 (GRCm39) |
Y43C |
|
Het |
| Igf2r |
A |
G |
17: 12,928,328 (GRCm39) |
L1005P |
probably damaging |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,759,834 (GRCm39) |
N92D |
possibly damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,389,813 (GRCm39) |
|
probably benign |
Het |
| Klra6 |
T |
C |
6: 129,999,660 (GRCm39) |
T103A |
probably benign |
Het |
| Lipo5 |
C |
T |
19: 33,441,849 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
T |
C |
11: 60,595,809 (GRCm39) |
|
probably null |
Het |
| Lonrf1 |
T |
C |
8: 36,698,292 (GRCm39) |
E402G |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,396,791 (GRCm39) |
Y311F |
probably benign |
Het |
| Lrrc8a |
T |
A |
2: 30,146,208 (GRCm39) |
W341R |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,882,016 (GRCm39) |
I117T |
|
Het |
| Mmp9 |
T |
C |
2: 164,795,486 (GRCm39) |
V668A |
possibly damaging |
Het |
| Naip5 |
A |
C |
13: 100,359,220 (GRCm39) |
M672R |
probably damaging |
Het |
| Ncam1 |
A |
T |
9: 49,431,445 (GRCm39) |
L664Q |
probably damaging |
Het |
| Nol4l |
T |
C |
2: 153,278,266 (GRCm39) |
D234G |
probably damaging |
Het |
| Or5t16 |
T |
C |
2: 86,818,822 (GRCm39) |
K233E |
probably damaging |
Het |
| Oscp1 |
T |
A |
4: 125,971,203 (GRCm39) |
H170Q |
possibly damaging |
Het |
| Pard3 |
T |
A |
8: 128,186,784 (GRCm39) |
M1021K |
probably damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,774,302 (GRCm39) |
|
probably null |
Het |
| Plcxd2 |
T |
C |
16: 45,800,949 (GRCm39) |
K92E |
probably damaging |
Het |
| Ptpdc1 |
A |
T |
13: 48,739,759 (GRCm39) |
C557* |
probably null |
Het |
| Robo2 |
G |
A |
16: 73,745,228 (GRCm39) |
T849I |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,416,813 (GRCm39) |
I1433N |
possibly damaging |
Het |
| Scarb1 |
A |
G |
5: 125,371,227 (GRCm39) |
S282P |
probably damaging |
Het |
| Schip1 |
G |
T |
3: 68,401,946 (GRCm39) |
G36C |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,125,039 (GRCm39) |
S357T |
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,249,216 (GRCm39) |
M1K |
probably null |
Het |
| Slc1a3 |
T |
C |
15: 8,671,853 (GRCm39) |
T368A |
probably damaging |
Het |
| Slc66a1 |
A |
G |
4: 139,027,440 (GRCm39) |
|
probably benign |
Het |
| Taf11 |
A |
T |
17: 28,121,594 (GRCm39) |
I138N |
probably damaging |
Het |
| Tnfaip8l1 |
C |
T |
17: 56,478,749 (GRCm39) |
A13V |
probably damaging |
Het |
| Trav6-2 |
T |
G |
14: 52,905,092 (GRCm39) |
F38V |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,638 (GRCm39) |
V440A |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,826,691 (GRCm39) |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,538,828 (GRCm39) |
C205* |
probably null |
Het |
| Zfp735 |
C |
G |
11: 73,601,811 (GRCm39) |
L252V |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,334,454 (GRCm39) |
L188Q |
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 |
|
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 |
|
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'- TTTGCCGCTCAGCACAGAAG -3'
(R):5'- TCCTTATATCGTGTAAAGTGCTGG -3'
Sequencing Primer
(F):5'- TCAGCACAGAAGCGTCG -3'
(R):5'- ATATCGTGTAAAGTGCTGGGGAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation