Incidental Mutation 'IGL02805:Ipp'
| ID |
360395 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ipp
|
| Ensembl Gene |
ENSMUSG00000028696 |
| Gene Name |
IAP promoted placental gene |
| Synonyms |
D4Jhu8, Mipp |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02805
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116364746-116395440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116386885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 356
(I356V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030461]
[ENSMUST00000106479]
|
| AlphaFold |
P28575 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030461
AA Change: I356V
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: I356V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
37 |
134 |
5.37e-30 |
SMART |
|
BACK
|
139 |
241 |
6.59e-29 |
SMART |
|
Kelch
|
289 |
343 |
3.8e-9 |
SMART |
|
Kelch
|
344 |
390 |
1.61e-12 |
SMART |
|
Kelch
|
391 |
437 |
2.9e-14 |
SMART |
|
Kelch
|
438 |
485 |
1.94e-15 |
SMART |
|
Kelch
|
486 |
533 |
2.79e-16 |
SMART |
|
Kelch
|
534 |
584 |
1.67e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106479
AA Change: I356V
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: I356V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
37 |
134 |
5.37e-30 |
SMART |
|
BACK
|
139 |
241 |
6.59e-29 |
SMART |
|
Kelch
|
289 |
343 |
3.8e-9 |
SMART |
|
Kelch
|
344 |
390 |
1.61e-12 |
SMART |
|
Kelch
|
391 |
437 |
2.9e-14 |
SMART |
|
Kelch
|
438 |
485 |
1.94e-15 |
SMART |
|
Kelch
|
486 |
533 |
2.79e-16 |
SMART |
|
Kelch
|
534 |
584 |
1.67e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,113,959 (GRCm39) |
|
probably benign |
Het |
| Ankdd1b |
A |
G |
13: 96,580,810 (GRCm39) |
S163P |
probably benign |
Het |
| Ap5z1 |
G |
A |
5: 142,456,038 (GRCm39) |
|
probably benign |
Het |
| Asb14 |
A |
G |
14: 26,623,144 (GRCm39) |
N172S |
possibly damaging |
Het |
| Avil |
G |
A |
10: 126,843,486 (GRCm39) |
V139I |
possibly damaging |
Het |
| C130073F10Rik |
A |
T |
4: 101,748,171 (GRCm39) |
M1K |
probably null |
Het |
| Ccdc33 |
T |
A |
9: 58,005,874 (GRCm39) |
I37F |
probably benign |
Het |
| Ccdc9 |
T |
C |
7: 16,009,199 (GRCm39) |
M550V |
probably benign |
Het |
| Cfap119 |
T |
C |
7: 127,185,566 (GRCm39) |
D121G |
possibly damaging |
Het |
| Cgn |
T |
A |
3: 94,681,687 (GRCm39) |
L469F |
probably damaging |
Het |
| Dnaaf3 |
C |
T |
7: 4,526,704 (GRCm39) |
G458R |
possibly damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,359,195 (GRCm39) |
N151K |
probably damaging |
Het |
| Dsel |
A |
G |
1: 111,790,046 (GRCm39) |
V163A |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,406 (GRCm39) |
|
probably benign |
Het |
| Fanca |
A |
T |
8: 124,016,233 (GRCm39) |
I670N |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,823,839 (GRCm39) |
V6524A |
probably benign |
Het |
| Gm10985 |
T |
C |
3: 53,752,514 (GRCm39) |
|
probably null |
Het |
| Gm1818 |
C |
T |
12: 48,602,518 (GRCm39) |
|
noncoding transcript |
Het |
| Hars2 |
C |
T |
18: 36,920,630 (GRCm39) |
R158* |
probably null |
Het |
| Htr5b |
A |
G |
1: 121,455,617 (GRCm39) |
V101A |
probably damaging |
Het |
| Itga8 |
T |
A |
2: 12,194,291 (GRCm39) |
N703I |
possibly damaging |
Het |
| Or8b3 |
T |
A |
9: 38,315,132 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,542,428 (GRCm39) |
N406D |
probably benign |
Het |
| Rbbp6 |
G |
A |
7: 122,600,411 (GRCm39) |
|
probably benign |
Het |
| Rgs7 |
T |
C |
1: 174,977,262 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ripor1 |
A |
G |
8: 106,344,203 (GRCm39) |
T446A |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,325,892 (GRCm39) |
D1562G |
probably damaging |
Het |
| Scaf11 |
A |
T |
15: 96,318,063 (GRCm39) |
D500E |
possibly damaging |
Het |
| Spock1 |
A |
G |
13: 58,055,391 (GRCm39) |
I4T |
possibly damaging |
Het |
| Srebf2 |
C |
A |
15: 82,054,045 (GRCm39) |
N35K |
probably benign |
Het |
| Srgap3 |
G |
T |
6: 112,704,224 (GRCm39) |
H922N |
probably damaging |
Het |
| Stk32c |
A |
C |
7: 138,701,762 (GRCm39) |
H112Q |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,926,630 (GRCm39) |
E994G |
probably damaging |
Het |
| Thumpd3 |
A |
G |
6: 113,043,758 (GRCm39) |
D391G |
probably damaging |
Het |
| Vmn2r38 |
T |
A |
7: 9,078,546 (GRCm39) |
H612L |
probably damaging |
Het |
| Vsig10l |
T |
G |
7: 43,114,666 (GRCm39) |
I289S |
probably damaging |
Het |
| Wwox |
G |
A |
8: 115,438,753 (GRCm39) |
G273E |
probably damaging |
Het |
| Zscan4d |
T |
G |
7: 10,898,897 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ipp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00941:Ipp
|
APN |
4 |
116,389,856 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01399:Ipp
|
APN |
4 |
116,372,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01934:Ipp
|
APN |
4 |
116,367,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Iguacu
|
UTSW |
4 |
116,395,135 (GRCm39) |
nonsense |
probably null |
|
|
R0582:Ipp
|
UTSW |
4 |
116,372,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0669:Ipp
|
UTSW |
4 |
116,395,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1121:Ipp
|
UTSW |
4 |
116,377,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1394:Ipp
|
UTSW |
4 |
116,395,109 (GRCm39) |
nonsense |
probably null |
|
|
R1738:Ipp
|
UTSW |
4 |
116,387,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2021:Ipp
|
UTSW |
4 |
116,372,565 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3103:Ipp
|
UTSW |
4 |
116,381,446 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4372:Ipp
|
UTSW |
4 |
116,372,560 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4439:Ipp
|
UTSW |
4 |
116,372,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4571:Ipp
|
UTSW |
4 |
116,387,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Ipp
|
UTSW |
4 |
116,372,654 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5503:Ipp
|
UTSW |
4 |
116,395,135 (GRCm39) |
nonsense |
probably null |
|
|
R5519:Ipp
|
UTSW |
4 |
116,367,964 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5640:Ipp
|
UTSW |
4 |
116,377,886 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5768:Ipp
|
UTSW |
4 |
116,367,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6867:Ipp
|
UTSW |
4 |
116,367,606 (GRCm39) |
splice site |
probably null |
|
|
R7575:Ipp
|
UTSW |
4 |
116,389,841 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7851:Ipp
|
UTSW |
4 |
116,372,672 (GRCm39) |
nonsense |
probably null |
|
|
R7992:Ipp
|
UTSW |
4 |
116,381,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8069:Ipp
|
UTSW |
4 |
116,368,053 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1176:Ipp
|
UTSW |
4 |
116,395,082 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation