Incidental Mutation 'R8321:Invs'
| ID |
641945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Invs
|
| Ensembl Gene |
ENSMUSG00000028344 |
| Gene Name |
inversin |
| Synonyms |
|
| MMRRC Submission |
067723-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
R8321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
48279760-48431954 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48283267 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 6
(D6E)
|
| 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 |
probably benign
Transcript: ENSMUST00000030029
AA Change: D6E
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: D6E
| 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: D6E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344
AA Change: D6E
| 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: 99.7%
- 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap44 |
A |
G |
11: 65,008,227 (GRCm38) |
V708A |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,185,698 (GRCm38) |
Q523* |
probably null |
Het |
| Bank1 |
T |
A |
3: 136,234,634 (GRCm38) |
E329V |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,634,033 (GRCm38) |
A859S |
probably damaging |
Het |
| Cdh11 |
T |
C |
8: 102,634,784 (GRCm38) |
R641G |
probably damaging |
Het |
| Cfap58 |
A |
G |
19: 47,958,147 (GRCm38) |
E373G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,232,567 (GRCm38) |
T529A |
probably benign |
Het |
| Chtf18 |
G |
A |
17: 25,720,891 (GRCm38) |
T747I |
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,553,447 (GRCm38) |
L2P |
probably benign |
Het |
| Cyp4f18 |
G |
A |
8: 71,988,583 (GRCm38) |
P518S |
possibly damaging |
Het |
| Dmrtc1a |
G |
A |
X: 102,908,615 (GRCm38) |
R8W |
probably benign |
Het |
| Dpyd |
T |
C |
3: 118,781,924 (GRCm38) |
V137A |
possibly damaging |
Het |
| Epha6 |
A |
G |
16: 59,915,954 (GRCm38) |
V739A |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 122,173,208 (GRCm38) |
A676T |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,757,931 (GRCm38) |
I241F |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,747,979 (GRCm38) |
H524R |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,559,268 (GRCm38) |
Y118H |
probably damaging |
Het |
| Gfm1 |
C |
T |
3: 67,430,261 (GRCm38) |
A8V |
probably benign |
Het |
| Gfm2 |
C |
T |
13: 97,162,992 (GRCm38) |
T407M |
possibly damaging |
Het |
| Gldc |
G |
A |
19: 30,143,407 (GRCm38) |
Q375* |
probably null |
Het |
| Gm5114 |
A |
G |
7: 39,410,849 (GRCm38) |
I192T |
possibly damaging |
Het |
| Gnb1 |
A |
T |
4: 155,555,025 (GRCm38) |
N237I |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 56,229,348 (GRCm38) |
P4662S |
possibly damaging |
Het |
| Herc3 |
C |
T |
6: 58,843,769 (GRCm38) |
S46F |
possibly damaging |
Het |
| Hgsnat |
C |
T |
8: 25,971,151 (GRCm38) |
G153E |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 80,098,331 (GRCm38) |
|
probably benign |
Het |
| Igkv2-137 |
GA |
GAA |
6: 67,556,170 (GRCm38) |
|
probably null |
Het |
| Jakmip3 |
T |
C |
7: 139,026,884 (GRCm38) |
V463A |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 44,848,386 (GRCm38) |
S96R |
probably damaging |
Het |
| Krtap6-1 |
A |
C |
16: 89,031,736 (GRCm38) |
N7H |
unknown |
Het |
| Matn4 |
A |
T |
2: 164,393,287 (GRCm38) |
V455D |
probably damaging |
Het |
| Nbea |
G |
A |
3: 56,183,097 (GRCm38) |
P47S |
possibly damaging |
Het |
| Oit3 |
T |
C |
10: 59,428,160 (GRCm38) |
H384R |
probably benign |
Het |
| Or1e27-ps1 |
G |
A |
11: 73,665,536 (GRCm38) |
R309H |
unknown |
Het |
| Or8b42 |
A |
T |
9: 38,430,554 (GRCm38) |
I91F |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,446,294 (GRCm38) |
D305V |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,774,941 (GRCm38) |
W314* |
probably null |
Het |
| Pask |
G |
A |
1: 93,320,655 (GRCm38) |
R975C |
possibly damaging |
Het |
| Pate13 |
G |
T |
9: 35,909,453 (GRCm38) |
C111F |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,651,936 (GRCm38) |
N542S |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,666,355 (GRCm38) |
R431C |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,424,542 (GRCm38) |
132 |
probably null |
Het |
| Sez6l2 |
C |
A |
7: 126,958,416 (GRCm38) |
T334N |
probably damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,093,764 (GRCm38) |
T256A |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,230,267 (GRCm38) |
N545Y |
probably damaging |
Het |
| Sprtn |
A |
T |
8: 124,903,255 (GRCm38) |
D429V |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,540,896 (GRCm38) |
V1389A |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,373,053 (GRCm38) |
C912F |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,985,780 (GRCm38) |
|
probably null |
Het |
| Tprg1l |
A |
G |
4: 154,160,403 (GRCm38) |
V76A |
probably benign |
Het |
| Trav12-2 |
G |
T |
14: 53,616,383 (GRCm38) |
|
probably benign |
Het |
| Trio |
T |
C |
15: 27,881,326 (GRCm38) |
D612G |
possibly damaging |
Het |
| Usp6nl |
A |
T |
2: 6,391,089 (GRCm38) |
Q36H |
possibly damaging |
Het |
| Vps9d1 |
A |
T |
8: 123,248,805 (GRCm38) |
M167K |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,401,127 (GRCm38) |
L2140Q |
probably damaging |
Het |
| Zfp512b |
A |
G |
2: 181,587,138 (GRCm38) |
V678A |
possibly damaging |
Het |
| Zfp800 |
A |
G |
6: 28,242,993 (GRCm38) |
S658P |
probably damaging |
Het |
| Zscan22 |
A |
G |
7: 12,903,698 (GRCm38) |
S6G |
probably benign |
Het |
|
| Other mutations in Invs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Invs
|
APN |
4 |
48,402,909 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL00487:Invs
|
APN |
4 |
48,407,689 (GRCm38) |
nonsense |
probably null |
|
|
IGL01487:Invs
|
APN |
4 |
48,398,136 (GRCm38) |
missense |
probably benign |
0.26 |
|
IGL01696:Invs
|
APN |
4 |
48,425,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02238:Invs
|
APN |
4 |
48,390,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03286:Invs
|
APN |
4 |
48,382,261 (GRCm38) |
missense |
probably benign |
0.26 |
|
R0645:Invs
|
UTSW |
4 |
48,407,653 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0661:Invs
|
UTSW |
4 |
48,421,861 (GRCm38) |
missense |
probably benign |
|
|
R0698:Invs
|
UTSW |
4 |
48,396,364 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0763:Invs
|
UTSW |
4 |
48,392,628 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1183:Invs
|
UTSW |
4 |
48,421,725 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1381:Invs
|
UTSW |
4 |
48,421,942 (GRCm38) |
nonsense |
probably null |
|
|
R1511:Invs
|
UTSW |
4 |
48,382,148 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1843:Invs
|
UTSW |
4 |
48,422,035 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1903:Invs
|
UTSW |
4 |
48,402,824 (GRCm38) |
splice site |
probably null |
|
|
R1928:Invs
|
UTSW |
4 |
48,390,095 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1990:Invs
|
UTSW |
4 |
48,392,599 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2063:Invs
|
UTSW |
4 |
48,396,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2064:Invs
|
UTSW |
4 |
48,396,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2065:Invs
|
UTSW |
4 |
48,396,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2066:Invs
|
UTSW |
4 |
48,396,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4744:Invs
|
UTSW |
4 |
48,397,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4997:Invs
|
UTSW |
4 |
48,396,332 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5011:Invs
|
UTSW |
4 |
48,421,807 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5013:Invs
|
UTSW |
4 |
48,421,807 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5083:Invs
|
UTSW |
4 |
48,396,307 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5184:Invs
|
UTSW |
4 |
48,283,242 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5258:Invs
|
UTSW |
4 |
48,396,374 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5375:Invs
|
UTSW |
4 |
48,385,262 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5509:Invs
|
UTSW |
4 |
48,396,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5560:Invs
|
UTSW |
4 |
48,416,084 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5748:Invs
|
UTSW |
4 |
48,307,823 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5813:Invs
|
UTSW |
4 |
48,398,146 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5840:Invs
|
UTSW |
4 |
48,396,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5984:Invs
|
UTSW |
4 |
48,421,674 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6513:Invs
|
UTSW |
4 |
48,397,534 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6637:Invs
|
UTSW |
4 |
48,416,203 (GRCm38) |
splice site |
probably null |
|
|
R6667:Invs
|
UTSW |
4 |
48,402,870 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6838:Invs
|
UTSW |
4 |
48,283,278 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6921:Invs
|
UTSW |
4 |
48,396,260 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6945:Invs
|
UTSW |
4 |
48,421,785 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7102:Invs
|
UTSW |
4 |
48,407,674 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7142:Invs
|
UTSW |
4 |
48,407,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7263:Invs
|
UTSW |
4 |
48,396,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7283:Invs
|
UTSW |
4 |
48,392,526 (GRCm38) |
splice site |
probably null |
|
|
R7461:Invs
|
UTSW |
4 |
48,392,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7503:Invs
|
UTSW |
4 |
48,396,347 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7581:Invs
|
UTSW |
4 |
48,421,909 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7613:Invs
|
UTSW |
4 |
48,392,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7861:Invs
|
UTSW |
4 |
48,397,559 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R8316:Invs
|
UTSW |
4 |
48,426,199 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R8500:Invs
|
UTSW |
4 |
48,422,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8544:Invs
|
UTSW |
4 |
48,397,598 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9171:Invs
|
UTSW |
4 |
48,398,149 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9663:Invs
|
UTSW |
4 |
48,426,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0026:Invs
|
UTSW |
4 |
48,398,221 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGCAGTTGTAGAAGTAGG -3'
(R):5'- GCAGCAGTCAGAGAACTTGC -3'
Sequencing Primer
(F):5'- AGAAGTAGGAGTGAGTTTTTAAGTCC -3'
(R):5'- TGCTAAGCTATGTCACAGGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation