Incidental Mutation 'R4744:Invs'
| ID |
356560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Invs
|
| Ensembl Gene |
ENSMUSG00000028344 |
| Gene Name |
inversin |
| Synonyms |
|
| MMRRC Submission |
042027-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.670)
|
| Stock # |
R4744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
48279760-48431954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48397609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 339
(F339L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030029]
[ENSMUST00000143433]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030029
AA Change: F395L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: F395L
| 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: F339L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344
AA Change: F339L
| 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 |
|
| Meta Mutation Damage Score |
0.5583 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (82/83) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
C |
5: 115,017,617 (GRCm39) |
S143P |
possibly damaging |
Het |
| 4933427D14Rik |
T |
C |
11: 72,066,365 (GRCm39) |
K614E |
probably damaging |
Het |
| Aatk |
A |
G |
11: 119,906,948 (GRCm39) |
M155T |
possibly damaging |
Het |
| Acvr2b |
T |
C |
9: 119,260,328 (GRCm39) |
L333P |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,128,699 (GRCm39) |
E865G |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,087,870 (GRCm39) |
S358G |
probably damaging |
Het |
| Agap2 |
T |
C |
10: 126,926,072 (GRCm39) |
|
probably null |
Het |
| Alkbh8 |
G |
A |
9: 3,344,604 (GRCm39) |
W49* |
probably null |
Het |
| AU015228 |
A |
T |
2: 129,942,549 (GRCm39) |
|
noncoding transcript |
Het |
| Bank1 |
G |
T |
3: 135,953,450 (GRCm39) |
R102S |
probably benign |
Het |
| Brap |
T |
A |
5: 121,800,193 (GRCm39) |
D27E |
probably damaging |
Het |
| Cyb5r2 |
G |
T |
7: 107,349,484 (GRCm39) |
H276N |
possibly damaging |
Het |
| Dhh |
A |
G |
15: 98,792,139 (GRCm39) |
F290L |
possibly damaging |
Het |
| Dhrs7 |
T |
A |
12: 72,699,025 (GRCm39) |
N319I |
possibly damaging |
Het |
| Ebpl |
A |
G |
14: 61,597,682 (GRCm39) |
V53A |
probably damaging |
Het |
| Eif3j2 |
TGCCGCCGCCGCCGCCGCCGCCGCCGCC |
TGCCGCCGCCGCCGCCGCCGCCGCC |
18: 43,610,782 (GRCm39) |
|
probably benign |
Het |
| Etnk1 |
A |
C |
6: 143,132,319 (GRCm39) |
N220T |
probably damaging |
Het |
| F11r |
T |
A |
1: 171,288,166 (GRCm39) |
V64D |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,225,946 (GRCm39) |
S360P |
probably damaging |
Het |
| Fignl1 |
A |
G |
11: 11,751,585 (GRCm39) |
M490T |
probably damaging |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,265 (GRCm39) |
M75K |
probably benign |
Het |
| Fzd7 |
T |
A |
1: 59,523,595 (GRCm39) |
F493I |
possibly damaging |
Het |
| Galnt14 |
G |
T |
17: 73,814,828 (GRCm39) |
P412T |
probably damaging |
Het |
| Gcg |
T |
A |
2: 62,308,975 (GRCm39) |
S60C |
probably damaging |
Het |
| Ggt1 |
A |
G |
10: 75,421,733 (GRCm39) |
K527E |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,758,153 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9972 |
A |
G |
11: 42,927,517 (GRCm39) |
K55E |
unknown |
Het |
| Gpr141 |
T |
A |
13: 19,935,884 (GRCm39) |
D297V |
probably benign |
Het |
| Grin2b |
G |
A |
6: 135,755,697 (GRCm39) |
S539L |
probably damaging |
Het |
| Hhipl1 |
A |
T |
12: 108,286,238 (GRCm39) |
N515I |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,453,363 (GRCm39) |
E5317D |
probably damaging |
Het |
| Hsf5 |
T |
A |
11: 87,513,617 (GRCm39) |
N227K |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,910,196 (GRCm39) |
D129E |
probably benign |
Het |
| Jak2 |
T |
A |
19: 29,239,656 (GRCm39) |
S17T |
probably benign |
Het |
| Mdga2 |
T |
A |
12: 66,844,501 (GRCm39) |
I166F |
probably benign |
Het |
| Nck1 |
T |
C |
9: 100,388,797 (GRCm39) |
I6V |
probably benign |
Het |
| Neb |
T |
C |
2: 52,040,589 (GRCm39) |
D6624G |
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,931,661 (GRCm39) |
Y17H |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,964,310 (GRCm39) |
L1298P |
probably damaging |
Het |
| Ocel1 |
A |
G |
8: 71,825,397 (GRCm39) |
E161G |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,991 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
A |
G |
18: 39,907,881 (GRCm39) |
Y382C |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,921,594 (GRCm39) |
|
probably benign |
Het |
| Pdhx |
A |
T |
2: 102,872,641 (GRCm39) |
V147D |
probably benign |
Het |
| Pigz |
A |
T |
16: 31,764,151 (GRCm39) |
H403L |
probably damaging |
Het |
| Pilra |
T |
C |
5: 137,833,769 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
T |
C |
5: 66,184,036 (GRCm39) |
D189G |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,031,451 (GRCm39) |
L558P |
probably damaging |
Het |
| Scarf2 |
G |
A |
16: 17,621,380 (GRCm39) |
R322H |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,174,658 (GRCm39) |
|
probably null |
Het |
| Sirt2 |
T |
C |
7: 28,476,438 (GRCm39) |
F26L |
probably damaging |
Het |
| Slc1a1 |
A |
T |
19: 28,871,925 (GRCm39) |
T133S |
probably benign |
Het |
| Slc1a2 |
A |
G |
2: 102,568,214 (GRCm39) |
I84V |
probably benign |
Het |
| Slc28a2b |
A |
T |
2: 122,353,286 (GRCm39) |
K489* |
probably null |
Het |
| Slc6a9 |
A |
T |
4: 117,725,092 (GRCm39) |
Q562L |
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,167,773 (GRCm39) |
Q25* |
probably null |
Het |
| St6galnac6 |
A |
G |
2: 32,508,555 (GRCm39) |
I231V |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,526,604 (GRCm39) |
T954A |
probably benign |
Het |
| Sufu |
A |
G |
19: 46,472,069 (GRCm39) |
M443V |
possibly damaging |
Het |
| Sv2b |
T |
C |
7: 74,856,266 (GRCm39) |
D8G |
probably benign |
Het |
| Tapbpl |
G |
A |
6: 125,205,248 (GRCm39) |
R233W |
probably damaging |
Het |
| Tex10 |
A |
G |
4: 48,469,990 (GRCm39) |
L25S |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,794 (GRCm39) |
V1254D |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,310,639 (GRCm39) |
I307N |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,839,126 (GRCm39) |
D575G |
probably damaging |
Het |
| Usf2 |
A |
T |
7: 30,654,197 (GRCm39) |
D166E |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,911,877 (GRCm39) |
L969M |
probably damaging |
Het |
| Usp32 |
G |
A |
11: 84,885,219 (GRCm39) |
P1276L |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,956,447 (GRCm39) |
E58D |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,011,598 (GRCm39) |
C40F |
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 |
|
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 |
|
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'- ATTCAGTCACAGTGAGGTGG -3'
(R):5'- GAAGACCGTTTTCTTCTGGTGC -3'
Sequencing Primer
(F):5'- TTCAGTCACAGTGAGGTGGAAATC -3'
(R):5'- GTGCCACTTGGGTGCTC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation