Incidental Mutation 'IGL02978:Itpripl1'
| ID |
406457 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itpripl1
|
| Ensembl Gene |
ENSMUSG00000074825 |
| Gene Name |
inositol 1,4,5-triphosphate receptor interacting protein-like 1 |
| Synonyms |
1700041B20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL02978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
126980692-126985362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126982932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 397
(F397I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110386]
[ENSMUST00000132773]
[ENSMUST00000154021]
|
| AlphaFold |
A2ASA8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110386
AA Change: F397I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106016
Gene: ENSMUSG00000074825
AA Change: F397I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
coiled coil region
|
32 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
140 |
N/A |
INTRINSIC |
|
Mab-21
|
214 |
533 |
1.66e-66 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132773
|
| SMART Domains |
Protein: ENSMUSP00000118487
Gene: ENSMUSG00000074825
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
coiled coil region
|
32 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154021
AA Change: F397I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122289
Gene: ENSMUSG00000074825
AA Change: F397I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
coiled coil region
|
32 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
140 |
N/A |
INTRINSIC |
|
Mab-21
|
214 |
533 |
1.66e-66 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
A |
3: 97,073,875 (GRCm39) |
F160I |
probably benign |
Het |
| Agt |
T |
C |
8: 125,284,502 (GRCm39) |
D412G |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,254,324 (GRCm39) |
Q344H |
probably benign |
Het |
| Ate1 |
C |
A |
7: 129,996,470 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,744 (GRCm39) |
H321R |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,277,075 (GRCm39) |
H694N |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,211 (GRCm39) |
N157S |
unknown |
Het |
| Cyp3a44 |
T |
A |
5: 145,725,208 (GRCm39) |
K331I |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,569,082 (GRCm39) |
D749G |
probably damaging |
Het |
| Gal3st4 |
C |
A |
5: 138,263,931 (GRCm39) |
W351L |
probably damaging |
Het |
| H2-T22 |
A |
T |
17: 36,352,517 (GRCm39) |
L136H |
probably benign |
Het |
| Ift25 |
A |
G |
4: 107,132,471 (GRCm39) |
E86G |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,093,076 (GRCm39) |
Q1705* |
probably null |
Het |
| Mfge8 |
A |
T |
7: 78,791,458 (GRCm39) |
L248Q |
probably damaging |
Het |
| Mfge8 |
T |
C |
7: 78,791,476 (GRCm39) |
E279G |
possibly damaging |
Het |
| Obox3 |
T |
C |
7: 15,360,178 (GRCm39) |
T164A |
probably benign |
Het |
| Plat |
T |
C |
8: 23,266,835 (GRCm39) |
C276R |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,480,674 (GRCm39) |
R594C |
probably benign |
Het |
| Shroom4 |
T |
A |
X: 6,497,244 (GRCm39) |
D801E |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 59,964,129 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
C |
T |
7: 86,460,555 (GRCm39) |
T627I |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,298 (GRCm39) |
T851S |
probably benign |
Het |
|
| Other mutations in Itpripl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02444:Itpripl1
|
APN |
2 |
126,983,621 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0328:Itpripl1
|
UTSW |
2 |
126,983,924 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0579:Itpripl1
|
UTSW |
2 |
126,983,011 (GRCm39) |
nonsense |
probably null |
|
|
R1178:Itpripl1
|
UTSW |
2 |
126,983,819 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1623:Itpripl1
|
UTSW |
2 |
126,983,555 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1956:Itpripl1
|
UTSW |
2 |
126,983,927 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2877:Itpripl1
|
UTSW |
2 |
126,983,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2878:Itpripl1
|
UTSW |
2 |
126,983,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4949:Itpripl1
|
UTSW |
2 |
126,983,327 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5161:Itpripl1
|
UTSW |
2 |
126,983,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Itpripl1
|
UTSW |
2 |
126,983,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Itpripl1
|
UTSW |
2 |
126,983,739 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5637:Itpripl1
|
UTSW |
2 |
126,984,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5715:Itpripl1
|
UTSW |
2 |
126,983,927 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7545:Itpripl1
|
UTSW |
2 |
126,983,581 (GRCm39) |
nonsense |
probably null |
|
|
R8409:Itpripl1
|
UTSW |
2 |
126,982,686 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8708:Itpripl1
|
UTSW |
2 |
126,983,262 (GRCm39) |
missense |
probably benign |
|
|
R9321:Itpripl1
|
UTSW |
2 |
126,984,000 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9452:Itpripl1
|
UTSW |
2 |
126,983,334 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation