Incidental Mutation 'R1415:Snx30'
| ID |
159768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx30
|
| Ensembl Gene |
ENSMUSG00000028385 |
| Gene Name |
sorting nexin family member 30 |
| Synonyms |
4732481H14Rik, C030041J06Rik |
| MMRRC Submission |
039471-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.501)
|
| Stock # |
R1415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
59805840-59904737 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59879261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 167
(R167C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030080]
|
| AlphaFold |
Q8CE50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030080
AA Change: R167C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030080
Gene: ENSMUSG00000028385
AA Change: R167C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
73 |
N/A |
INTRINSIC |
|
PX
|
88 |
206 |
2.21e-18 |
SMART |
|
Pfam:BAR
|
264 |
432 |
4e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,303,982 (GRCm39) |
V135A |
probably benign |
Het |
| Adam21 |
C |
T |
12: 81,606,321 (GRCm39) |
W480* |
probably null |
Het |
| Ccdc71 |
T |
A |
9: 108,340,407 (GRCm39) |
Y73* |
probably null |
Het |
| Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
| Dnajb11 |
T |
C |
16: 22,689,371 (GRCm39) |
V264A |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,328,777 (GRCm39) |
E1174G |
probably damaging |
Het |
| Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
| Gigyf1 |
A |
G |
5: 137,517,478 (GRCm39) |
|
probably null |
Het |
| Letm1 |
A |
T |
5: 33,926,906 (GRCm39) |
N130K |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,519,676 (GRCm39) |
Y137C |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,330 (GRCm39) |
I597V |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,542,720 (GRCm39) |
E770G |
probably benign |
Het |
| Or4d2b |
A |
C |
11: 87,780,473 (GRCm39) |
V83G |
possibly damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,543 (GRCm39) |
I320T |
probably benign |
Het |
| Pank2 |
T |
A |
2: 131,124,638 (GRCm39) |
Y68* |
probably null |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,582,285 (GRCm39) |
G1057V |
probably benign |
Het |
| Slc30a2 |
C |
T |
4: 134,076,660 (GRCm39) |
T265M |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,688,084 (GRCm39) |
E1239G |
probably null |
Het |
| Tmem26 |
T |
C |
10: 68,614,491 (GRCm39) |
F302S |
possibly damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,301,610 (GRCm39) |
L19S |
probably damaging |
Het |
| Trp53bp1 |
T |
G |
2: 121,066,665 (GRCm39) |
E687A |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,046,667 (GRCm39) |
H243Y |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,763,137 (GRCm39) |
V2318D |
possibly damaging |
Het |
| Wdr59 |
G |
A |
8: 112,225,228 (GRCm39) |
P141S |
probably damaging |
Het |
| Zbed6 |
C |
T |
1: 133,585,556 (GRCm39) |
V594M |
possibly damaging |
Het |
| Zfp787 |
C |
A |
7: 6,135,694 (GRCm39) |
G186C |
probably damaging |
Het |
|
| Other mutations in Snx30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01124:Snx30
|
APN |
4 |
59,886,404 (GRCm39) |
splice site |
probably benign |
|
|
IGL01397:Snx30
|
APN |
4 |
59,894,526 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL03189:Snx30
|
APN |
4 |
59,857,452 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4366001:Snx30
|
UTSW |
4 |
59,894,653 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1274:Snx30
|
UTSW |
4 |
59,885,133 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2240:Snx30
|
UTSW |
4 |
59,886,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4459:Snx30
|
UTSW |
4 |
59,885,022 (GRCm39) |
nonsense |
probably null |
|
|
R4460:Snx30
|
UTSW |
4 |
59,885,022 (GRCm39) |
nonsense |
probably null |
|
|
R5279:Snx30
|
UTSW |
4 |
59,885,070 (GRCm39) |
missense |
probably benign |
|
|
R5394:Snx30
|
UTSW |
4 |
59,879,329 (GRCm39) |
missense |
probably benign |
|
|
R5754:Snx30
|
UTSW |
4 |
59,868,275 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7502:Snx30
|
UTSW |
4 |
59,894,567 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7666:Snx30
|
UTSW |
4 |
59,885,047 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8968:Snx30
|
UTSW |
4 |
59,886,517 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9515:Snx30
|
UTSW |
4 |
59,879,241 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGCACTTGTGATTTGCTGC -3'
(R):5'- CTTTCATTGCTGCTGCAAAGGGG -3'
Sequencing Primer
(F):5'- tgagggtgagggcagaag -3'
(R):5'- CCTGCCAGATTCTAAAAGAAACTGTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation