Incidental Mutation 'R5184:Invs'
| ID |
397738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Invs
|
| Ensembl Gene |
ENSMUSG00000028344 |
| Gene Name |
inversin |
| Synonyms |
|
| MMRRC Submission |
042763-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.658)
|
| Stock # |
R5184 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
48279760-48431954 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to G
at 48283242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138580
(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 |
probably benign
Transcript: ENSMUST00000030029
|
| SMART Domains |
Protein: ENSMUSP00000030029
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
|
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156602
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (63/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aph1a |
T |
A |
3: 95,803,051 (GRCm39) |
|
probably null |
Het |
| Arid3a |
A |
G |
10: 79,786,603 (GRCm39) |
E452G |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,605,506 (GRCm39) |
S68P |
unknown |
Het |
| Carf |
T |
C |
1: 60,147,333 (GRCm39) |
S17P |
probably damaging |
Het |
| Ccdc90b |
A |
G |
7: 92,224,019 (GRCm39) |
D145G |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,271,207 (GRCm39) |
N316K |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,801,419 (GRCm39) |
I106T |
possibly damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,176,641 (GRCm39) |
V437A |
probably benign |
Het |
| E2f2 |
A |
T |
4: 135,911,751 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,779,182 (GRCm39) |
T221A |
probably benign |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Fermt1 |
A |
G |
2: 132,783,883 (GRCm39) |
V42A |
possibly damaging |
Het |
| Fgf3 |
A |
G |
7: 144,396,547 (GRCm39) |
D187G |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,901,945 (GRCm38) |
V936E |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,772,099 (GRCm39) |
Y1093H |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,824,608 (GRCm39) |
I534N |
possibly damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,472,711 (GRCm39) |
D826E |
probably damaging |
Het |
| Klra9 |
A |
T |
6: 130,165,675 (GRCm39) |
N113K |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,899,657 (GRCm39) |
K453E |
probably damaging |
Het |
| Lgi4 |
C |
T |
7: 30,770,182 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,739,058 (GRCm39) |
S289G |
probably benign |
Het |
| Mapre1 |
T |
A |
2: 153,599,987 (GRCm39) |
V137E |
possibly damaging |
Het |
| Mark4 |
A |
G |
7: 19,181,168 (GRCm39) |
F144L |
possibly damaging |
Het |
| Mogat2 |
G |
T |
7: 98,872,842 (GRCm39) |
A114E |
possibly damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Nell2 |
A |
G |
15: 95,425,690 (GRCm39) |
L19P |
possibly damaging |
Het |
| Nfia |
A |
T |
4: 97,671,585 (GRCm39) |
K98N |
probably damaging |
Het |
| Nutm1 |
T |
A |
2: 112,079,345 (GRCm39) |
T857S |
possibly damaging |
Het |
| Or14a257 |
TG |
T |
7: 86,138,499 (GRCm39) |
|
probably null |
Het |
| Or52a5 |
T |
C |
7: 103,426,611 (GRCm39) |
K314E |
probably benign |
Het |
| Or8g17 |
T |
A |
9: 38,929,998 (GRCm39) |
I280F |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,195,987 (GRCm39) |
L706P |
probably damaging |
Het |
| Penk |
A |
G |
4: 4,134,296 (GRCm39) |
L117P |
probably damaging |
Het |
| Pgap1 |
A |
G |
1: 54,521,015 (GRCm39) |
S876P |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,254,399 (GRCm39) |
I478T |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,442,800 (GRCm39) |
E318K |
possibly damaging |
Het |
| Prr12 |
C |
A |
7: 44,695,801 (GRCm39) |
V1222L |
unknown |
Het |
| Prune2 |
T |
C |
19: 17,193,721 (GRCm39) |
S3070P |
possibly damaging |
Het |
| Rnf19a |
A |
G |
15: 36,244,342 (GRCm39) |
C573R |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,267,629 (GRCm39) |
S1072P |
probably damaging |
Het |
| Rskr |
T |
C |
11: 78,183,573 (GRCm39) |
F194L |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,584,729 (GRCm39) |
C394S |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,261,850 (GRCm39) |
N315S |
possibly damaging |
Het |
| Snph |
T |
C |
2: 151,436,464 (GRCm39) |
I86V |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,376,463 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tbc1d13 |
T |
A |
2: 30,032,323 (GRCm39) |
C145S |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,530,289 (GRCm39) |
E65G |
probably damaging |
Het |
| Thrb |
G |
T |
14: 18,011,181 (GRCm38) |
E186* |
probably null |
Het |
| Tmem101 |
A |
G |
11: 102,047,059 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Trarg1 |
T |
A |
11: 76,571,134 (GRCm39) |
L50Q |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,580,162 (GRCm39) |
|
probably null |
Het |
| Usp10 |
G |
A |
8: 120,683,420 (GRCm39) |
V764I |
possibly damaging |
Het |
| Usp25 |
A |
G |
16: 76,906,115 (GRCm39) |
E857G |
probably benign |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,068,142 (GRCm39) |
L775P |
probably damaging |
Het |
| Xpnpep1 |
T |
C |
19: 53,001,845 (GRCm39) |
T134A |
probably benign |
Het |
| Zbtb10 |
T |
C |
3: 9,329,731 (GRCm39) |
V363A |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
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 |
|
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'- AAGCCATCCAATTTGCCATG -3'
(R):5'- GCAGTCAGAGAACTTGCAGG -3'
Sequencing Primer
(F):5'- ATCCAATTTGCCATGTCAGCAG -3'
(R):5'- TGTGCGGCAGACAACTTTAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation