Incidental Mutation 'R1121:Ipp'
| ID |
95606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipp
|
| Ensembl Gene |
ENSMUSG00000028696 |
| Gene Name |
IAP promoted placental gene |
| Synonyms |
D4Jhu8, Mipp |
| MMRRC Submission |
039194-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1121 (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 116377872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 247
(N247K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030461]
[ENSMUST00000106479]
|
| AlphaFold |
P28575 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030461
AA Change: N247K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: N247K
| 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
AA Change: N247K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: N247K
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
A |
T |
6: 90,566,366 (GRCm39) |
I646L |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,690,822 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
A |
7: 81,113,943 (GRCm39) |
T815S |
unknown |
Het |
| Atosb |
T |
C |
4: 43,034,947 (GRCm39) |
K317E |
probably damaging |
Het |
| Cops7a |
T |
C |
6: 124,939,379 (GRCm39) |
D90G |
probably benign |
Het |
| Dpysl2 |
C |
T |
14: 67,100,001 (GRCm39) |
M78I |
probably benign |
Het |
| Erc2 |
T |
C |
14: 28,197,612 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,063,913 (GRCm39) |
|
probably null |
Het |
| Fam98a |
C |
A |
17: 75,845,529 (GRCm39) |
G406C |
unknown |
Het |
| G6pc3 |
G |
A |
11: 102,080,768 (GRCm39) |
S6N |
possibly damaging |
Het |
| Grin2d |
T |
G |
7: 45,503,771 (GRCm39) |
M655L |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,440,332 (GRCm39) |
T308K |
possibly damaging |
Het |
| Islr |
T |
C |
9: 58,065,045 (GRCm39) |
N154S |
probably benign |
Het |
| Itk |
A |
G |
11: 46,222,721 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Micu1 |
C |
T |
10: 59,624,804 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or6d14 |
T |
G |
6: 116,534,190 (GRCm39) |
V268G |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,645 (GRCm39) |
Y584N |
probably damaging |
Het |
| Pnlip |
A |
G |
19: 58,669,340 (GRCm39) |
|
probably null |
Het |
| Ppip5k2 |
A |
T |
1: 97,684,585 (GRCm39) |
Y129N |
probably damaging |
Het |
| Prtg |
T |
G |
9: 72,813,449 (GRCm39) |
H936Q |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Spef1l |
T |
A |
7: 139,556,543 (GRCm39) |
D148V |
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 119,899,871 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
A |
G |
2: 21,216,975 (GRCm39) |
D243G |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,619,917 (GRCm39) |
M276K |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,647 (GRCm39) |
T181A |
probably benign |
Het |
| Vwa7 |
T |
A |
17: 35,236,770 (GRCm39) |
N112K |
probably damaging |
Het |
| Xkr7 |
C |
T |
2: 152,896,343 (GRCm39) |
T399I |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,930,248 (GRCm39) |
D19G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTGTACCTCCAGGATGTGGATG -3'
(R):5'- AAATTAAATACGCTTCTGATGGCCTTGC -3'
Sequencing Primer
(F):5'- tcctttaaccctctccaacac -3'
(R):5'- GGCCTTGCATATTAGTAATACCTTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation