Incidental Mutation 'R6867:Ipp'
ID |
535966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipp
|
Ensembl Gene |
ENSMUSG00000028696 |
Gene Name |
IAP promoted placental gene |
Synonyms |
D4Jhu8, Mipp |
MMRRC Submission |
045028-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6867 (G1)
|
Quality Score |
87.0076 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116364746-116395440 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 116367606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030461
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030461]
[ENSMUST00000106479]
|
AlphaFold |
P28575 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030461
|
SMART Domains |
Protein: ENSMUSP00000030461 Gene: ENSMUSG00000028696
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 |
probably benign
Transcript: ENSMUST00000106479
|
SMART Domains |
Protein: ENSMUSP00000102088 Gene: ENSMUSG00000028696
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (43/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apold1 |
T |
C |
6: 134,961,019 (GRCm39) |
S158P |
possibly damaging |
Het |
Cep162 |
A |
T |
9: 87,099,134 (GRCm39) |
L788* |
probably null |
Het |
Cyp7b1 |
T |
C |
3: 18,151,394 (GRCm39) |
Y273C |
probably damaging |
Het |
Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,508,976 (GRCm39) |
I1605K |
probably damaging |
Het |
Enox1 |
T |
C |
14: 77,936,739 (GRCm39) |
|
probably null |
Het |
F3 |
T |
C |
3: 121,523,020 (GRCm39) |
S77P |
possibly damaging |
Het |
Fam186a |
T |
A |
15: 99,843,731 (GRCm39) |
I838L |
unknown |
Het |
Flrt2 |
T |
C |
12: 95,746,156 (GRCm39) |
F165L |
probably damaging |
Het |
Gcgr |
T |
A |
11: 120,427,295 (GRCm39) |
V135E |
possibly damaging |
Het |
Gm6741 |
T |
C |
17: 91,544,339 (GRCm39) |
L34P |
probably benign |
Het |
Gna13 |
T |
C |
11: 109,286,948 (GRCm39) |
M257T |
possibly damaging |
Het |
Hsd11b2 |
G |
A |
8: 106,248,949 (GRCm39) |
R147H |
probably benign |
Het |
Hydin |
A |
G |
8: 111,266,434 (GRCm39) |
Y2865C |
probably benign |
Het |
Igdcc3 |
A |
G |
9: 65,090,320 (GRCm39) |
N610D |
probably damaging |
Het |
Kdm5d |
A |
G |
Y: 927,425 (GRCm39) |
T682A |
probably benign |
Het |
Megf8 |
A |
G |
7: 25,030,460 (GRCm39) |
Y471C |
probably benign |
Het |
Mprip |
T |
C |
11: 59,640,456 (GRCm39) |
|
probably null |
Het |
Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
Myrfl |
T |
A |
10: 116,684,187 (GRCm39) |
R179* |
probably null |
Het |
Nek1 |
C |
A |
8: 61,525,364 (GRCm39) |
Q601K |
possibly damaging |
Het |
Neurod4 |
C |
G |
10: 130,106,583 (GRCm39) |
K230N |
probably damaging |
Het |
Or1ab2 |
C |
T |
8: 72,863,707 (GRCm39) |
T99I |
possibly damaging |
Het |
Or8u10 |
A |
G |
2: 85,916,082 (GRCm39) |
I13T |
possibly damaging |
Het |
Orc3 |
A |
G |
4: 34,605,539 (GRCm39) |
L114P |
probably damaging |
Het |
Rag1 |
T |
C |
2: 101,472,292 (GRCm39) |
D950G |
probably damaging |
Het |
Rasgrp2 |
G |
A |
19: 6,463,213 (GRCm39) |
S504N |
probably benign |
Het |
Rgl2 |
A |
G |
17: 34,151,661 (GRCm39) |
D235G |
probably benign |
Het |
Slc35e2 |
A |
G |
4: 155,703,157 (GRCm39) |
E390G |
probably benign |
Het |
Slc39a1 |
T |
A |
3: 90,156,759 (GRCm39) |
V105E |
probably damaging |
Het |
Tesk2 |
T |
A |
4: 116,658,995 (GRCm39) |
C291S |
probably damaging |
Het |
Tmco3 |
T |
A |
8: 13,363,927 (GRCm39) |
F83Y |
probably damaging |
Het |
Trim25 |
T |
C |
11: 88,901,713 (GRCm39) |
I336T |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,643,170 (GRCm39) |
I4177M |
probably damaging |
Het |
Veph1 |
T |
A |
3: 66,162,458 (GRCm39) |
T67S |
probably damaging |
Het |
Vmn2r43 |
A |
G |
7: 8,258,125 (GRCm39) |
F363L |
probably benign |
Het |
Vps28 |
A |
T |
15: 76,506,871 (GRCm39) |
I109N |
probably damaging |
Het |
Vps50 |
A |
G |
6: 3,517,835 (GRCm39) |
D91G |
probably benign |
Het |
Wdr20 |
T |
C |
12: 110,760,133 (GRCm39) |
F340L |
probably benign |
Het |
Wdr95 |
A |
G |
5: 149,504,388 (GRCm39) |
|
probably null |
Het |
Zfand6 |
A |
G |
7: 84,265,122 (GRCm39) |
V193A |
probably damaging |
Het |
Zfp703 |
C |
A |
8: 27,468,668 (GRCm39) |
P111T |
probably damaging |
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 |
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 |
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'- TCCCTCCTAACTGTAGTGATACAAC -3'
(R):5'- GAATTGTCAGCAGCCTTGGG -3'
Sequencing Primer
(F):5'- ACTGTAGTGATACAACTCTTTTCTGC -3'
(R):5'- GGCACTCCTCCTTAGACATGGTG -3'
|
Posted On |
2018-10-18 |