Incidental Mutation 'R4372:Ipp'
| ID |
326020 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4372 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
116364746-116395440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116372560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 196
(D196E)
|
| 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: D196E
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: D196E
| 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: D196E
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: D196E
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
T |
C |
11: 106,919,293 (GRCm39) |
Y213H |
probably damaging |
Het |
| Alg5 |
T |
C |
3: 54,646,376 (GRCm39) |
|
probably null |
Het |
| Bend7 |
A |
T |
2: 4,754,421 (GRCm39) |
I175F |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 31,026,879 (GRCm39) |
R715H |
probably damaging |
Het |
| Kcna5 |
A |
G |
6: 126,510,320 (GRCm39) |
*603Q |
probably null |
Het |
| Kdm3b |
A |
G |
18: 34,960,497 (GRCm39) |
T1161A |
probably benign |
Het |
| Kif20a |
A |
T |
18: 34,762,531 (GRCm39) |
Q468L |
probably damaging |
Het |
| Map7d2 |
A |
G |
X: 158,273,680 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,743,809 (GRCm39) |
E4015G |
probably benign |
Het |
| Mri1 |
A |
G |
8: 84,980,554 (GRCm39) |
V296A |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,007,386 (GRCm39) |
S516P |
probably damaging |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,366 (GRCm39) |
S481P |
possibly damaging |
Het |
| Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
| Pklr |
C |
T |
3: 89,052,830 (GRCm39) |
R528* |
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Samsn1 |
G |
A |
16: 75,656,344 (GRCm39) |
T368I |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,866,767 (GRCm39) |
E241G |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,964,599 (GRCm39) |
G729R |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,656 (GRCm39) |
V721A |
probably damaging |
Het |
| Wdr17 |
T |
A |
8: 55,092,930 (GRCm39) |
Y1076F |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,845,833 (GRCm39) |
|
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,697 (GRCm39) |
S689G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTGATTGTTGCAGCAGAC -3'
(R):5'- TCTCAGAGATCAACTAGCTAGTTTG -3'
Sequencing Primer
(F):5'- TGATCCACAGAACTGCATTGG -3'
(R):5'- AGCCTCTGAGATGGTAAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation