Incidental Mutation 'R6642:Aip'
| ID |
525890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aip
|
| Ensembl Gene |
ENSMUSG00000024847 |
| Gene Name |
aryl-hydrocarbon receptor-interacting protein |
| Synonyms |
Ara9, Xap2, Fkbp16, D19Bwg1412e |
| MMRRC Submission |
044763-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6642 (G1)
|
| Quality Score |
204.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4164446-4175858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4165149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 240
(C240F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025767]
[ENSMUST00000049658]
[ENSMUST00000100022]
[ENSMUST00000117831]
[ENSMUST00000121402]
|
| AlphaFold |
O08915 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025767
AA Change: C240F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025767
Gene: ENSMUSG00000024847
AA Change: C240F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
26 |
155 |
5.3e-11 |
PFAM |
|
PDB:4APO|B
|
166 |
330 |
1e-113 |
PDB |
|
SCOP:d1ihga1
|
170 |
322 |
1e-14 |
SMART |
|
Blast:TPR
|
231 |
264 |
3e-7 |
BLAST |
|
Blast:TPR
|
265 |
298 |
7e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049658
|
| SMART Domains |
Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
252 |
2e-145 |
PFAM |
|
low complexity region
|
284 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
|
DDHD
|
685 |
879 |
5.94e-86 |
SMART |
|
Blast:DDHD
|
880 |
963 |
2e-42 |
BLAST |
|
LNS2
|
1022 |
1153 |
1.35e-57 |
SMART |
|
low complexity region
|
1184 |
1195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100022
|
| SMART Domains |
Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
250 |
1.6e-113 |
PFAM |
|
low complexity region
|
284 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
|
DDHD
|
685 |
879 |
5.94e-86 |
SMART |
|
Blast:DDHD
|
880 |
963 |
2e-42 |
BLAST |
|
LNS2
|
1022 |
1153 |
1.35e-57 |
SMART |
|
low complexity region
|
1184 |
1195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117831
AA Change: C240F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113807
Gene: ENSMUSG00000024847
AA Change: C240F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
26 |
155 |
1e-10 |
PFAM |
|
PDB:4APO|B
|
166 |
330 |
1e-113 |
PDB |
|
SCOP:d1ihga1
|
170 |
322 |
1e-14 |
SMART |
|
Blast:TPR
|
231 |
264 |
3e-7 |
BLAST |
|
Blast:TPR
|
265 |
298 |
7e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121402
|
| SMART Domains |
Protein: ENSMUSP00000114096
Gene: ENSMUSG00000024847
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
26 |
155 |
1.5e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128798
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: This gene encodes an Hsp90-associated protein that is localized to the cytoplasm. The encoded protein interacts with the aryl hydrocarbon receptor (AhR) and the tyrosine kinase receptor RET, inhibits AhR ubiquitination, and regulates the intracellular localization of AhR. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality from E10 to E19. Mice exhibit cardiac malformations such as double outlet right ventricle and ventricular septal defect and sometimes hemorrhage or petechiae. Mice homozygous for a hypomorphic allele exhibit patent ductus venosus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
A |
2: 152,282,790 (GRCm39) |
V215D |
probably damaging |
Het |
| Ablim1 |
A |
G |
19: 57,119,284 (GRCm39) |
S267P |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,768,945 (GRCm39) |
C1061Y |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,160,268 (GRCm39) |
D98V |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,228,419 (GRCm39) |
|
probably benign |
Het |
| Cplx2 |
G |
T |
13: 54,526,736 (GRCm39) |
R48L |
probably damaging |
Het |
| Ctrl |
C |
T |
8: 106,659,451 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,353,006 (GRCm39) |
T2720A |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,805,696 (GRCm39) |
Y629H |
probably damaging |
Het |
| Gins1 |
T |
C |
2: 150,770,038 (GRCm39) |
|
probably null |
Het |
| Gpr149 |
C |
T |
3: 62,437,995 (GRCm39) |
A721T |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,920,835 (GRCm39) |
M1036K |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,337,335 (GRCm39) |
F127L |
probably benign |
Het |
| Kctd20 |
A |
T |
17: 29,180,640 (GRCm39) |
H138L |
probably damaging |
Het |
| Kctd9 |
T |
A |
14: 67,962,122 (GRCm39) |
L55* |
probably null |
Het |
| Marf1 |
C |
T |
16: 13,950,611 (GRCm39) |
R925H |
probably benign |
Het |
| Mbip |
A |
T |
12: 56,389,191 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nod1 |
T |
G |
6: 54,925,014 (GRCm39) |
D99A |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,259,107 (GRCm39) |
K419E |
probably damaging |
Het |
| Or6c214 |
A |
T |
10: 129,591,232 (GRCm39) |
L29Q |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,521,845 (GRCm39) |
D137G |
probably benign |
Het |
| Prdm4 |
T |
C |
10: 85,743,682 (GRCm39) |
E191G |
probably benign |
Het |
| Rassf10 |
A |
T |
7: 112,554,784 (GRCm39) |
T462S |
probably benign |
Het |
| Rundc3b |
A |
T |
5: 8,629,071 (GRCm39) |
I110N |
probably damaging |
Het |
| Sgsm3 |
C |
T |
15: 80,893,901 (GRCm39) |
R479C |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,144,834 (GRCm39) |
Y575* |
probably null |
Het |
| Trim33 |
T |
C |
3: 103,244,830 (GRCm39) |
L310S |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,565,740 (GRCm39) |
E28204G |
probably damaging |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,002 (GRCm39) |
L316Q |
probably damaging |
Het |
| Vmn2r110 |
A |
T |
17: 20,803,779 (GRCm39) |
N265K |
possibly damaging |
Het |
| Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
|
| Other mutations in Aip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01959:Aip
|
APN |
19 |
4,171,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0331:Aip
|
UTSW |
19 |
4,168,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2244:Aip
|
UTSW |
19 |
4,164,796 (GRCm39) |
missense |
probably benign |
|
|
R5219:Aip
|
UTSW |
19 |
4,165,180 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5840:Aip
|
UTSW |
19 |
4,166,010 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6167:Aip
|
UTSW |
19 |
4,165,188 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6815:Aip
|
UTSW |
19 |
4,166,066 (GRCm39) |
missense |
probably benign |
|
|
R7016:Aip
|
UTSW |
19 |
4,171,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7097:Aip
|
UTSW |
19 |
4,165,381 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7316:Aip
|
UTSW |
19 |
4,164,793 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8025:Aip
|
UTSW |
19 |
4,165,346 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8374:Aip
|
UTSW |
19 |
4,165,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Aip
|
UTSW |
19 |
4,166,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Aip
|
UTSW |
19 |
4,168,217 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTCTGGTCAGGCTCTTG -3'
(R):5'- AGTACTATGACGCCATCGCC -3'
Sequencing Primer
(F):5'- GTGGGGAGCTCAGAGATGTC -3'
(R):5'- TGCCTCAAGAATCTGCAGATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation