Incidental Mutation 'R0582:Ipp'
| ID |
56460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipp
|
| Ensembl Gene |
ENSMUSG00000028696 |
| Gene Name |
IAP promoted placental gene |
| Synonyms |
D4Jhu8, Mipp |
| MMRRC Submission |
038772-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0582 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116364746-116395440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116372664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 231
(L231S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030461]
[ENSMUST00000106479]
|
| AlphaFold |
P28575 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030461
AA Change: L231S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: L231S
| 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 damaging
Transcript: ENSMUST00000106479
AA Change: L231S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: L231S
| 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 |
|
| Meta Mutation Damage Score |
0.7488 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.6%
|
| Validation Efficiency |
100% (45/45) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,904,147 (GRCm39) |
M186K |
probably benign |
Het |
| Afm |
T |
C |
5: 90,672,639 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
G |
A |
10: 18,487,038 (GRCm39) |
A1332V |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,881,214 (GRCm39) |
S451P |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,950,332 (GRCm39) |
V3189E |
probably damaging |
Het |
| Ccdc150 |
C |
T |
1: 54,368,670 (GRCm39) |
A626V |
probably benign |
Het |
| Ccdc50 |
G |
A |
16: 27,263,409 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
C |
4: 84,802,978 (GRCm39) |
S93P |
probably damaging |
Het |
| Ctnna2 |
C |
A |
6: 77,735,400 (GRCm39) |
V106L |
probably benign |
Het |
| Ctnnal1 |
G |
C |
4: 56,813,228 (GRCm39) |
Q668E |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,587,529 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,937,935 (GRCm39) |
D1604G |
probably benign |
Het |
| Dscaml1 |
A |
T |
9: 45,579,562 (GRCm39) |
I370F |
possibly damaging |
Het |
| Duxf4 |
A |
T |
10: 58,071,508 (GRCm39) |
S235R |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,654,881 (GRCm39) |
E129G |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,188 (GRCm39) |
I2162V |
probably benign |
Het |
| Ints9 |
C |
T |
14: 65,217,598 (GRCm39) |
P42S |
probably damaging |
Het |
| Lyn |
T |
A |
4: 3,743,296 (GRCm39) |
L72Q |
probably damaging |
Het |
| Nfe2l2 |
T |
A |
2: 75,507,112 (GRCm39) |
E329D |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or52a24 |
G |
A |
7: 103,381,880 (GRCm39) |
C249Y |
possibly damaging |
Het |
| Pdyn |
A |
C |
2: 129,531,658 (GRCm39) |
L44R |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,881,699 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,035,704 (GRCm39) |
F695L |
probably damaging |
Het |
| Rnf217 |
A |
G |
10: 31,484,763 (GRCm39) |
Y140H |
possibly damaging |
Het |
| Sema6c |
C |
T |
3: 95,076,508 (GRCm39) |
R265C |
probably damaging |
Het |
| Slc7a8 |
C |
A |
14: 54,995,901 (GRCm39) |
C167F |
probably damaging |
Het |
| Snap47 |
A |
T |
11: 59,319,259 (GRCm39) |
L293* |
probably null |
Het |
| Snx3 |
A |
T |
10: 42,409,276 (GRCm39) |
|
probably benign |
Het |
| Sycp2l |
T |
A |
13: 41,291,431 (GRCm39) |
|
probably benign |
Het |
| Taar3 |
A |
G |
10: 23,825,715 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tm4sf4 |
T |
C |
3: 57,341,278 (GRCm39) |
|
probably benign |
Het |
| Tssc4 |
T |
C |
7: 142,624,246 (GRCm39) |
S185P |
probably damaging |
Het |
| Ttc28 |
G |
T |
5: 111,331,162 (GRCm39) |
A430S |
probably damaging |
Het |
| Ulbp3 |
G |
A |
10: 3,075,082 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
T |
C |
6: 124,201,249 (GRCm39) |
D236G |
probably benign |
Het |
| Vps54 |
G |
T |
11: 21,250,137 (GRCm39) |
D508Y |
probably damaging |
Het |
| Wdr53 |
G |
A |
16: 32,070,726 (GRCm39) |
V24M |
probably damaging |
Het |
| Xirp2 |
T |
G |
2: 67,339,210 (GRCm39) |
L484V |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,292,996 (GRCm39) |
D2051G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGAGTTCCTCGGGCTTACAAAAG -3'
(R):5'- AGTCCCTCTGGTTGTGGTAGTACATAC -3'
Sequencing Primer
(F):5'- TTCCTCGGGCTTACAAAAGATCAG -3'
(R):5'- acacaaggggaggaacaac -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation