Incidental Mutation 'R3148:Snx4'
| ID |
264336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx4
|
| Ensembl Gene |
ENSMUSG00000022808 |
| Gene Name |
sorting nexin 4 |
| Synonyms |
1810036H14Rik |
| MMRRC Submission |
040600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R3148 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33071826-33119932 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 33108094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 296
(D296A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023502]
[ENSMUST00000231389]
|
| AlphaFold |
Q91YJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023502
AA Change: D296A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000023502
Gene: ENSMUSG00000022808
AA Change: D296A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
PX
|
56 |
184 |
1.86e-34 |
SMART |
|
low complexity region
|
237 |
248 |
N/A |
INTRINSIC |
|
coiled coil region
|
369 |
399 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231389
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
C |
X: 66,964,984 (GRCm39) |
D12G |
probably benign |
Het |
| Adamts18 |
C |
A |
8: 114,465,490 (GRCm39) |
V701L |
probably damaging |
Het |
| Alg2 |
A |
T |
4: 47,472,259 (GRCm39) |
V183D |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,726,724 (GRCm39) |
I857V |
probably benign |
Het |
| Asb15 |
G |
T |
6: 24,566,258 (GRCm39) |
A404S |
probably damaging |
Het |
| Baalc |
A |
T |
15: 38,812,568 (GRCm39) |
E106V |
possibly damaging |
Het |
| Catsperd |
G |
T |
17: 56,971,039 (GRCm39) |
C701F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,866,497 (GRCm39) |
I769N |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,484,071 (GRCm39) |
T375A |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,790,473 (GRCm39) |
T974A |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,050,465 (GRCm39) |
Y502C |
probably damaging |
Het |
| Kcnj11 |
C |
T |
7: 45,748,544 (GRCm39) |
V260I |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,943,843 (GRCm39) |
V1380A |
possibly damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,633 (GRCm39) |
F270L |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,939,593 (GRCm39) |
L2124P |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,823,403 (GRCm39) |
N256I |
possibly damaging |
Het |
| Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
| Pramel21 |
A |
T |
4: 143,344,047 (GRCm39) |
D449V |
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,085,417 (GRCm39) |
D171G |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 157,071,334 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,809,555 (GRCm39) |
H320Q |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,193,132 (GRCm39) |
Q778R |
probably benign |
Het |
| Spata16 |
T |
C |
3: 26,932,861 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
G |
T |
7: 137,861,596 (GRCm39) |
Q378K |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,884,760 (GRCm39) |
Y814H |
probably benign |
Het |
|
| Other mutations in Snx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01506:Snx4
|
APN |
16 |
33,084,624 (GRCm39) |
splice site |
probably benign |
|
|
IGL01831:Snx4
|
APN |
16 |
33,104,792 (GRCm39) |
nonsense |
probably null |
|
|
IGL02069:Snx4
|
APN |
16 |
33,084,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03204:Snx4
|
APN |
16 |
33,090,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1336:Snx4
|
UTSW |
16 |
33,101,050 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1613:Snx4
|
UTSW |
16 |
33,106,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Snx4
|
UTSW |
16 |
33,104,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2177:Snx4
|
UTSW |
16 |
33,106,428 (GRCm39) |
splice site |
probably null |
|
|
R3147:Snx4
|
UTSW |
16 |
33,108,094 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4380:Snx4
|
UTSW |
16 |
33,084,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Snx4
|
UTSW |
16 |
33,115,100 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6889:Snx4
|
UTSW |
16 |
33,071,840 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6904:Snx4
|
UTSW |
16 |
33,115,108 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7355:Snx4
|
UTSW |
16 |
33,087,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Snx4
|
UTSW |
16 |
33,112,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9234:Snx4
|
UTSW |
16 |
33,108,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9234:Snx4
|
UTSW |
16 |
33,087,161 (GRCm39) |
nonsense |
probably null |
|
|
R9457:Snx4
|
UTSW |
16 |
33,106,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9524:Snx4
|
UTSW |
16 |
33,112,228 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATATGACATGCCCGGTGTG -3'
(R):5'- TACACAGAAAATTAGCCAAAGTGTG -3'
Sequencing Primer
(F):5'- TGTGTGAACGATATGACATGCCC -3'
(R):5'- TGGCTACACTGGGGCCTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation