Incidental Mutation 'R1274:Snx30'
| ID |
150836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx30
|
| Ensembl Gene |
ENSMUSG00000028385 |
| Gene Name |
sorting nexin family member 30 |
| Synonyms |
4732481H14Rik, C030041J06Rik |
| MMRRC Submission |
039340-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.551)
|
| Stock # |
R1274 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
59805840-59904737 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59885133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 258
(T258A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030080]
|
| AlphaFold |
Q8CE50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030080
AA Change: T258A
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030080
Gene: ENSMUSG00000028385
AA Change: T258A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145199
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
T |
C |
19: 56,902,995 (GRCm39) |
D728G |
probably benign |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Ceacam3 |
A |
G |
7: 16,897,064 (GRCm39) |
R677G |
probably damaging |
Het |
| Col16a1 |
T |
A |
4: 129,991,594 (GRCm39) |
M1431K |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Gm6563 |
A |
T |
19: 23,653,701 (GRCm39) |
I164F |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,321,313 (GRCm39) |
Y148C |
probably damaging |
Het |
| Nav2 |
C |
A |
7: 49,254,178 (GRCm39) |
Y2325* |
probably null |
Het |
| Or10ak12 |
T |
C |
4: 118,666,593 (GRCm39) |
N156S |
probably benign |
Het |
| Or5d36 |
A |
C |
2: 87,900,939 (GRCm39) |
C262W |
probably damaging |
Het |
| P2ry12 |
T |
C |
3: 59,124,641 (GRCm39) |
T345A |
possibly damaging |
Het |
| Ptpn13 |
C |
T |
5: 103,698,126 (GRCm39) |
P1078S |
probably damaging |
Het |
| Rgs20 |
G |
A |
1: 4,982,670 (GRCm39) |
T166I |
probably damaging |
Het |
| Sik1 |
A |
T |
17: 32,065,549 (GRCm39) |
L683Q |
possibly damaging |
Het |
| Slc7a5 |
C |
T |
8: 122,610,453 (GRCm39) |
V454M |
probably benign |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
GTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTC |
2: 164,749,388 (GRCm39) |
|
probably benign |
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 |
|
R1415:Snx30
|
UTSW |
4 |
59,879,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CCTGAATGCCTACAAGAAGCAAGGG -3'
(R):5'- CTGACTGCAAGGACTGAGTGCAAAG -3'
Sequencing Primer
(F):5'- CAAGGGATAGCATTGCTGAGC -3'
(R):5'- TGAGTGCAAAACGCATTCCAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation