Incidental Mutation 'IGL00675:Saraf'
| ID |
14503 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Saraf
|
| Ensembl Gene |
ENSMUSG00000031532 |
| Gene Name |
store-operated calcium entry-associated regulatory factor |
| Synonyms |
Tmem66, 1810045K07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00675
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
34621733-34638001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34634962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 288
(S288T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033933]
|
| AlphaFold |
Q8R3Q0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033933
AA Change: S288T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000033933
Gene: ENSMUSG00000031532
AA Change: S288T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
Pfam:SARAF
|
48 |
363 |
4.8e-98 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211664
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,195,811 (GRCm39) |
D549E |
probably damaging |
Het |
| Abcc9 |
A |
G |
6: 142,610,347 (GRCm39) |
F606L |
probably damaging |
Het |
| Bltp3a |
C |
T |
17: 28,095,891 (GRCm39) |
|
probably benign |
Het |
| Canx |
A |
G |
11: 50,191,823 (GRCm39) |
S363P |
possibly damaging |
Het |
| Cdh6 |
T |
C |
15: 13,041,525 (GRCm39) |
D513G |
possibly damaging |
Het |
| Cyp11a1 |
G |
T |
9: 57,926,596 (GRCm39) |
G111W |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,151,691 (GRCm39) |
|
probably null |
Het |
| Dsg1b |
T |
A |
18: 20,524,975 (GRCm39) |
L137* |
probably null |
Het |
| Kcnh5 |
A |
T |
12: 75,160,963 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
A |
G |
8: 26,341,877 (GRCm39) |
E74G |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,111 (GRCm39) |
I116K |
possibly damaging |
Het |
| Notch2 |
T |
C |
3: 98,018,991 (GRCm39) |
Y718H |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,605,022 (GRCm39) |
L2980P |
probably benign |
Het |
| Samm50 |
C |
T |
15: 84,084,576 (GRCm39) |
S171F |
possibly damaging |
Het |
| Ubr5 |
C |
T |
15: 38,018,528 (GRCm39) |
V865I |
possibly damaging |
Het |
| Vnn3 |
G |
T |
10: 23,743,066 (GRCm39) |
K425N |
possibly damaging |
Het |
| Zswim8 |
T |
C |
14: 20,766,969 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Saraf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1615:Saraf
|
UTSW |
8 |
34,632,442 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2679:Saraf
|
UTSW |
8 |
34,632,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2899:Saraf
|
UTSW |
8 |
34,628,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Saraf
|
UTSW |
8 |
34,635,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4458:Saraf
|
UTSW |
8 |
34,621,870 (GRCm39) |
missense |
unknown |
|
|
R4661:Saraf
|
UTSW |
8 |
34,635,616 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4662:Saraf
|
UTSW |
8 |
34,635,616 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5029:Saraf
|
UTSW |
8 |
34,628,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5473:Saraf
|
UTSW |
8 |
34,628,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Saraf
|
UTSW |
8 |
34,621,799 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5776:Saraf
|
UTSW |
8 |
34,632,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5980:Saraf
|
UTSW |
8 |
34,632,541 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6793:Saraf
|
UTSW |
8 |
34,635,767 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8404:Saraf
|
UTSW |
8 |
34,632,602 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8406:Saraf
|
UTSW |
8 |
34,632,602 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8425:Saraf
|
UTSW |
8 |
34,632,602 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9168:Saraf
|
UTSW |
8 |
34,632,343 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Saraf
|
UTSW |
8 |
34,637,249 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation