Incidental Mutation 'IGL00941:Ipp'
| ID |
27272 |
| 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 # |
IGL00941
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116364746-116395440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116389856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 471
(M471V)
|
| 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: M471V
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: M471V
| 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: M471V
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: M471V
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
C |
17: 24,536,104 (GRCm39) |
I521S |
probably damaging |
Het |
| Ace |
A |
T |
11: 105,870,376 (GRCm39) |
K265I |
probably benign |
Het |
| Acss3 |
A |
G |
10: 106,889,187 (GRCm39) |
|
probably null |
Het |
| Aldh3a2 |
A |
G |
11: 61,153,082 (GRCm39) |
Y215H |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,082,729 (GRCm39) |
M393V |
probably damaging |
Het |
| Cyc1 |
A |
G |
15: 76,229,365 (GRCm39) |
I242V |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,118,727 (GRCm39) |
L657F |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,764,327 (GRCm39) |
V675M |
probably damaging |
Het |
| Fgf21 |
A |
G |
7: 45,264,597 (GRCm39) |
V45A |
probably damaging |
Het |
| Gm5134 |
T |
C |
10: 75,836,255 (GRCm39) |
I412T |
possibly damaging |
Het |
| Gnat3 |
T |
C |
5: 18,208,749 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
C |
T |
13: 55,162,239 (GRCm39) |
|
probably null |
Het |
| Ifna12 |
A |
T |
4: 88,521,551 (GRCm39) |
|
probably benign |
Het |
| Kcnj1 |
G |
A |
9: 32,307,794 (GRCm39) |
V73I |
probably benign |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,920,652 (GRCm39) |
|
probably benign |
Het |
| Mllt1 |
A |
T |
17: 57,202,086 (GRCm39) |
S428R |
probably damaging |
Het |
| Ppm1k |
T |
A |
6: 57,501,740 (GRCm39) |
H141L |
probably benign |
Het |
| Septin4 |
G |
T |
11: 87,480,599 (GRCm39) |
C392F |
probably damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,270,727 (GRCm39) |
F550L |
probably benign |
Het |
| Ssb |
T |
A |
2: 69,701,179 (GRCm39) |
|
probably null |
Het |
| Stk36 |
T |
A |
1: 74,663,093 (GRCm39) |
M588K |
possibly damaging |
Het |
| Ubqln4 |
G |
A |
3: 88,471,808 (GRCm39) |
A415T |
probably benign |
Het |
| Zfp839 |
C |
A |
12: 110,827,382 (GRCm39) |
S424R |
probably damaging |
Het |
| Zkscan6 |
G |
T |
11: 65,705,573 (GRCm39) |
G95W |
probably damaging |
Het |
|
| Other mutations in Ipp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02805:Ipp
|
APN |
4 |
116,386,885 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
2013-04-17 |
Incidental Mutation