Incidental Mutation 'R5813:Invs'
| ID |
447605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Invs
|
| Ensembl Gene |
ENSMUSG00000028344 |
| Gene Name |
inversin |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.670)
|
| Stock # |
R5813 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
48279760-48431954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48398146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 444
(E444G)
|
| 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: E444G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: E444G
| 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 damaging
Transcript: ENSMUST00000143433
AA Change: E388G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344
AA Change: E388G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
A |
G |
3: 89,253,135 (GRCm39) |
Y230H |
probably benign |
Het |
| Ano7 |
G |
T |
1: 93,312,641 (GRCm39) |
|
probably null |
Het |
| Arap2 |
T |
C |
5: 62,834,506 (GRCm39) |
Y792C |
probably damaging |
Het |
| Art3 |
C |
A |
5: 92,560,100 (GRCm39) |
|
probably benign |
Het |
| Atad2 |
C |
T |
15: 57,963,250 (GRCm39) |
G1085D |
probably benign |
Het |
| Birc6 |
C |
A |
17: 74,953,497 (GRCm39) |
A3253E |
probably damaging |
Het |
| C9 |
C |
T |
15: 6,526,607 (GRCm39) |
P547L |
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,739,169 (GRCm39) |
S1271P |
probably damaging |
Het |
| Ces1e |
T |
A |
8: 93,948,305 (GRCm39) |
K105* |
probably null |
Het |
| Cpsf4 |
A |
G |
5: 145,115,683 (GRCm39) |
N204S |
probably benign |
Het |
| Cracd |
A |
G |
5: 77,006,275 (GRCm39) |
T879A |
unknown |
Het |
| Dgkz |
T |
C |
2: 91,769,733 (GRCm39) |
D615G |
possibly damaging |
Het |
| Disp1 |
G |
T |
1: 182,869,974 (GRCm39) |
N815K |
probably damaging |
Het |
| Enah |
A |
G |
1: 181,758,750 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,800,919 (GRCm39) |
T1322A |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,918,395 (GRCm39) |
F516L |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,323,136 (GRCm39) |
A1096T |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,660,413 (GRCm39) |
Y190C |
probably damaging |
Het |
| Gfra1 |
T |
C |
19: 58,227,687 (GRCm39) |
D417G |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,368,485 (GRCm39) |
I1055T |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,559,901 (GRCm39) |
T519A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,009,931 (GRCm39) |
S727P |
probably benign |
Het |
| Kidins220 |
A |
T |
12: 25,107,139 (GRCm39) |
K1531* |
probably null |
Het |
| Ksr1 |
C |
T |
11: 78,929,024 (GRCm39) |
V266M |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lipi |
T |
C |
16: 75,370,798 (GRCm39) |
R140G |
possibly damaging |
Het |
| Lrrc32 |
T |
C |
7: 98,147,618 (GRCm39) |
S133P |
probably damaging |
Het |
| Map3k7 |
T |
A |
4: 31,964,318 (GRCm39) |
I19N |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,970,449 (GRCm39) |
V90A |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,621,877 (GRCm39) |
L673P |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,966,229 (GRCm39) |
H48R |
probably benign |
Het |
| Mettl26 |
G |
A |
17: 26,094,995 (GRCm39) |
V87M |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,511,696 (GRCm39) |
R5G |
probably benign |
Het |
| Mtcl3 |
G |
T |
10: 29,026,240 (GRCm39) |
V441F |
probably damaging |
Het |
| Mterf1b |
T |
C |
5: 4,246,956 (GRCm39) |
V199A |
possibly damaging |
Het |
| Ncs1 |
T |
A |
2: 31,170,666 (GRCm39) |
|
probably null |
Het |
| Nek10 |
T |
C |
14: 14,986,704 (GRCm38) |
V1014A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,042,744 (GRCm39) |
N1370D |
probably benign |
Het |
| Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
| Opn5 |
C |
G |
17: 42,903,897 (GRCm39) |
R146T |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,726,952 (GRCm39) |
M51K |
probably benign |
Het |
| Or8g33 |
A |
G |
9: 39,338,032 (GRCm39) |
C112R |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pcyox1l |
C |
T |
18: 61,832,359 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
T |
C |
15: 89,044,962 (GRCm39) |
T1128A |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,425,127 (GRCm39) |
T960A |
probably benign |
Het |
| Prkaa2 |
A |
C |
4: 104,893,291 (GRCm39) |
*553G |
probably null |
Het |
| Rasgrp4 |
A |
G |
7: 28,844,639 (GRCm39) |
D297G |
probably damaging |
Het |
| Sdf4 |
G |
A |
4: 156,083,856 (GRCm39) |
V109I |
probably benign |
Het |
| Serpinb3d |
T |
C |
1: 107,007,027 (GRCm39) |
K227R |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,398,822 (GRCm39) |
I750N |
probably damaging |
Het |
| Shtn1 |
T |
A |
19: 59,020,673 (GRCm39) |
K183M |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,303,852 (GRCm39) |
T1257A |
probably benign |
Het |
| Slc22a30 |
T |
C |
19: 8,381,945 (GRCm39) |
T109A |
probably benign |
Het |
| Slco1c1 |
A |
G |
6: 141,487,929 (GRCm39) |
D99G |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,122,354 (GRCm39) |
|
probably null |
Het |
| Tex10 |
A |
G |
4: 48,452,928 (GRCm39) |
V677A |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,847,879 (GRCm39) |
S329P |
probably benign |
Het |
| Trappc10 |
T |
A |
10: 78,058,573 (GRCm39) |
N136I |
probably damaging |
Het |
| Trpt1 |
T |
C |
19: 6,975,906 (GRCm39) |
F173L |
probably benign |
Het |
| Ube4b |
G |
A |
4: 149,421,925 (GRCm39) |
R955C |
probably damaging |
Het |
| Usp34 |
C |
A |
11: 23,371,340 (GRCm39) |
P1840T |
probably benign |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,985 (GRCm39) |
N6K |
possibly damaging |
Het |
| Wdr25 |
T |
C |
12: 108,993,347 (GRCm39) |
V521A |
possibly damaging |
Het |
| Wdr64 |
G |
A |
1: 175,639,623 (GRCm39) |
E1031K |
possibly damaging |
Het |
| Wnt10a |
A |
G |
1: 74,839,755 (GRCm39) |
N147S |
probably damaging |
Het |
| Zbed5 |
T |
C |
5: 129,931,059 (GRCm39) |
I336T |
possibly damaging |
Het |
| Zfp758 |
T |
A |
17: 22,594,796 (GRCm39) |
H427Q |
probably damaging |
Het |
| Zfp961 |
C |
A |
8: 72,722,070 (GRCm39) |
H194Q |
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 |
|
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'- GCACAGAAGTATTTGGGGCTG -3'
(R):5'- ATTCATCACAGCGAGGGATAC -3'
Sequencing Primer
(F):5'- ACTTTTAGAGAGCACGGTTAGG -3'
(R):5'- ATACCATGGGGCTGGTAGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation