Incidental Mutation 'R6838:Invs'
| ID |
537937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Invs
|
| Ensembl Gene |
ENSMUSG00000028344 |
| Gene Name |
inversin |
| Synonyms |
|
| MMRRC Submission |
044946-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.658)
|
| Stock # |
R6838 (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 T
at 48283278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 10
(T10M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030028]
[ENSMUST00000030029]
[ENSMUST00000143433]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030028
|
| SMART Domains |
Protein: ENSMUSP00000030028
Gene: ENSMUSG00000028343
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
Pfam:Calsequestrin
|
29 |
205 |
6.4e-12 |
PFAM |
|
Pfam:Thioredoxin
|
30 |
139 |
1.1e-23 |
PFAM |
|
Pfam:Thioredoxin_6
|
167 |
350 |
8.6e-45 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030029
AA Change: T10M
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: T10M
| 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
AA Change: T10M
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344
AA Change: T10M
| 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: 98.7%
|
| Validation Efficiency |
97% (64/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
| Aqp9 |
T |
A |
9: 71,019,498 (GRCm39) |
M321L |
probably benign |
Het |
| Avil |
G |
A |
10: 126,849,431 (GRCm39) |
D576N |
probably benign |
Het |
| Bbs1 |
C |
T |
19: 4,953,880 (GRCm39) |
M94I |
possibly damaging |
Het |
| Bms1 |
A |
G |
6: 118,393,455 (GRCm39) |
V139A |
probably benign |
Het |
| Bscl2 |
A |
T |
19: 8,818,745 (GRCm39) |
M57L |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,975,364 (GRCm39) |
I794T |
possibly damaging |
Het |
| Cacna1s |
C |
T |
1: 136,012,175 (GRCm39) |
T539I |
possibly damaging |
Het |
| Cand1 |
T |
C |
10: 119,045,935 (GRCm39) |
K990R |
probably benign |
Het |
| Capn7 |
A |
G |
14: 31,076,130 (GRCm39) |
I311V |
possibly damaging |
Het |
| Cd180 |
A |
G |
13: 102,839,239 (GRCm39) |
N41D |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,607,471 (GRCm39) |
F275L |
possibly damaging |
Het |
| Celsr1 |
G |
A |
15: 85,823,395 (GRCm39) |
T1671I |
probably benign |
Het |
| Cep135 |
A |
T |
5: 76,780,062 (GRCm39) |
Q798L |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,971,180 (GRCm39) |
D46G |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,006,056 (GRCm39) |
T806S |
unknown |
Het |
| Ddx46 |
G |
T |
13: 55,787,748 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,230,948 (GRCm39) |
L1402P |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,929,525 (GRCm39) |
E1402G |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,784,008 (GRCm39) |
Y1989H |
possibly damaging |
Het |
| Ereg |
A |
G |
5: 91,236,323 (GRCm39) |
D50G |
probably benign |
Het |
| Evi5 |
G |
T |
5: 107,990,027 (GRCm39) |
T64K |
possibly damaging |
Het |
| Frem3 |
A |
C |
8: 81,338,660 (GRCm39) |
T318P |
probably damaging |
Het |
| Gpx1 |
A |
G |
9: 108,217,139 (GRCm39) |
D81G |
possibly damaging |
Het |
| Gramd1a |
T |
C |
7: 30,833,929 (GRCm39) |
I499V |
probably benign |
Het |
| H4c12 |
A |
T |
13: 21,934,375 (GRCm39) |
F101I |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,758,526 (GRCm39) |
D804E |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,107,437 (GRCm39) |
E846G |
probably damaging |
Het |
| Iars2 |
G |
A |
1: 185,061,342 (GRCm39) |
A48V |
probably damaging |
Het |
| Ism2 |
A |
T |
12: 87,326,975 (GRCm39) |
D321E |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,448,152 (GRCm39) |
S231P |
possibly damaging |
Het |
| Kif17 |
A |
T |
4: 138,005,710 (GRCm39) |
|
probably null |
Het |
| Lvrn |
A |
G |
18: 47,023,947 (GRCm39) |
I765V |
possibly damaging |
Het |
| Map4k4 |
T |
A |
1: 40,015,882 (GRCm39) |
C108S |
probably damaging |
Het |
| Mapk13 |
G |
T |
17: 28,996,535 (GRCm39) |
|
probably null |
Het |
| Mapkapk2 |
T |
A |
1: 130,985,740 (GRCm39) |
K95* |
probably null |
Het |
| Mau2 |
A |
T |
8: 70,491,947 (GRCm39) |
|
probably null |
Het |
| Mex3a |
A |
G |
3: 88,444,084 (GRCm39) |
T387A |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,061,165 (GRCm39) |
|
probably null |
Het |
| Ncbp3 |
A |
T |
11: 72,964,300 (GRCm39) |
M417L |
possibly damaging |
Het |
| Nod2 |
A |
C |
8: 89,397,086 (GRCm39) |
E810A |
possibly damaging |
Het |
| Nol3 |
A |
T |
8: 106,006,207 (GRCm39) |
E152V |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,567,664 (GRCm39) |
E261G |
possibly damaging |
Het |
| Or2h1 |
A |
T |
17: 37,404,058 (GRCm39) |
L236* |
probably null |
Het |
| Or8b12b |
A |
C |
9: 37,684,348 (GRCm39) |
Y131S |
possibly damaging |
Het |
| P3h2 |
T |
C |
16: 25,924,034 (GRCm39) |
S134G |
possibly damaging |
Het |
| Plxna2 |
A |
T |
1: 194,487,222 (GRCm39) |
R1592S |
possibly damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,097,137 (GRCm39) |
S250L |
possibly damaging |
Het |
| Rab38 |
A |
G |
7: 88,099,917 (GRCm39) |
D144G |
possibly damaging |
Het |
| Septin1 |
T |
C |
7: 126,815,894 (GRCm39) |
M176V |
probably benign |
Het |
| Spata22 |
C |
T |
11: 73,236,759 (GRCm39) |
T355M |
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,468,706 (GRCm39) |
N734S |
probably benign |
Het |
| Tbc1d17 |
C |
A |
7: 44,493,738 (GRCm39) |
R295L |
probably damaging |
Het |
| Thsd7a |
G |
T |
6: 12,504,074 (GRCm39) |
P360Q |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tnnt1 |
T |
C |
7: 4,510,406 (GRCm39) |
N239S |
possibly damaging |
Het |
| Tpst1 |
A |
T |
5: 130,131,279 (GRCm39) |
M250L |
probably benign |
Het |
| Urb1 |
T |
A |
16: 90,578,994 (GRCm39) |
D689V |
possibly damaging |
Het |
| Usp28 |
T |
A |
9: 48,911,730 (GRCm39) |
|
probably null |
Het |
| Vldlr |
G |
A |
19: 27,225,370 (GRCm39) |
D816N |
probably damaging |
Het |
| Vmn1r257 |
T |
A |
7: 22,391,142 (GRCm39) |
M201L |
probably benign |
Het |
| Wdr1 |
A |
G |
5: 38,687,374 (GRCm39) |
V219A |
probably damaging |
Het |
| Xndc1 |
T |
C |
7: 101,722,476 (GRCm39) |
V47A |
possibly damaging |
Het |
| Zfp366 |
C |
T |
13: 99,365,015 (GRCm39) |
P59S |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,382,685 (GRCm39) |
E616G |
possibly damaging |
Het |
| Zfp937 |
T |
A |
2: 150,081,266 (GRCm39) |
I432K |
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 |
|
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'- TGCCATGTCAGCAGTTGTAGAAG -3'
(R):5'- GCAGTCAGAGAACTTGCAGG -3'
Sequencing Primer
(F):5'- AGAAGTAGGAGTGAGTTTTTAAGTCC -3'
(R):5'- TGCTAAGCTATGTCACAGGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation