Incidental Mutation 'R2899:Saraf'
| ID |
261410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Saraf
|
| Ensembl Gene |
ENSMUSG00000031532 |
| Gene Name |
store-operated calcium entry-associated regulatory factor |
| Synonyms |
Tmem66, 1810045K07Rik |
| MMRRC Submission |
040487-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2899 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
34621733-34638001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34628385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 77
(L77P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033933]
|
| AlphaFold |
Q8R3Q0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033933
AA Change: L77P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033933
Gene: ENSMUSG00000031532
AA Change: L77P
| 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: ENSMUST00000211637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211664
|
| Meta Mutation Damage Score |
0.9588 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,443 (GRCm39) |
K211E |
probably benign |
Het |
| Amigo3 |
T |
C |
9: 107,931,353 (GRCm39) |
S259P |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cd200r4 |
T |
C |
16: 44,653,728 (GRCm39) |
I175T |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,962,854 (GRCm39) |
D425G |
probably benign |
Het |
| Clmp |
T |
C |
9: 40,693,688 (GRCm39) |
S302P |
probably damaging |
Het |
| Dusp6 |
T |
C |
10: 99,099,707 (GRCm39) |
S52P |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,381,667 (GRCm39) |
I395F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,014,469 (GRCm39) |
E580G |
possibly damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,881,480 (GRCm39) |
Y271N |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,650,323 (GRCm39) |
W131* |
probably null |
Het |
| Gdf7 |
C |
T |
12: 8,348,470 (GRCm39) |
A276T |
unknown |
Het |
| Limk1 |
A |
T |
5: 134,717,154 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Neb |
A |
G |
2: 52,075,335 (GRCm39) |
I210T |
probably benign |
Het |
| Nf1 |
T |
G |
11: 79,303,584 (GRCm39) |
N420K |
possibly damaging |
Het |
| Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
| Pask |
G |
T |
1: 93,262,269 (GRCm39) |
T197K |
probably damaging |
Het |
| Potefam1 |
C |
A |
2: 111,051,015 (GRCm39) |
|
probably benign |
Het |
| Pou4f3 |
T |
C |
18: 42,528,588 (GRCm39) |
L177P |
probably benign |
Het |
| Rassf1 |
G |
A |
9: 107,431,393 (GRCm39) |
G107R |
probably null |
Het |
| Rdx |
T |
C |
9: 51,980,211 (GRCm39) |
|
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,178,959 (GRCm39) |
E483G |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,002,124 (GRCm39) |
N69S |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,167,582 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h6 |
T |
C |
2: 128,844,152 (GRCm39) |
V232A |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,336 (GRCm39) |
S99R |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,143 (GRCm39) |
L219Q |
probably damaging |
Het |
|
| Other mutations in Saraf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00675:Saraf
|
APN |
8 |
34,634,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACACTTGACTTTGAGCCTG -3'
(R):5'- TCATGTCTCCCCAGGAAGAG -3'
Sequencing Primer
(F):5'- TGAGCCTGCTCCTTAGGATGC -3'
(R):5'- ATCACTCCATGGGATGCCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation