Incidental Mutation 'R5275:Snx6'
| ID |
403897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx6
|
| Ensembl Gene |
ENSMUSG00000005656 |
| Gene Name |
sorting nexin 6 |
| Synonyms |
2010006G21Rik, 2610032J07Rik, 2810425K19Rik |
| MMRRC Submission |
042838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R5275 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
54793124-54842464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54830807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 51
(H51R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005798]
[ENSMUST00000218934]
[ENSMUST00000219781]
|
| AlphaFold |
Q6P8X1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005798
AA Change: H51R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005798
Gene: ENSMUSG00000005656
AA Change: H51R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
29 |
170 |
2.8e-21 |
PFAM |
|
Pfam:Vps5
|
184 |
399 |
2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218066
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219302
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219781
AA Change: H51R
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.3651 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (59/59) |
| 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 associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,092,856 (GRCm39) |
R155H |
probably benign |
Het |
| Abcc1 |
C |
T |
16: 14,284,050 (GRCm39) |
L1222F |
probably damaging |
Het |
| Alpl |
T |
C |
4: 137,476,919 (GRCm39) |
T245A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,825,832 (GRCm39) |
H378R |
probably damaging |
Het |
| Apold1 |
G |
T |
6: 134,960,763 (GRCm39) |
L72F |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,618,777 (GRCm39) |
|
probably null |
Het |
| Atp5f1c |
T |
C |
2: 10,073,544 (GRCm39) |
R10G |
possibly damaging |
Het |
| Becn2 |
A |
G |
1: 175,748,336 (GRCm39) |
H134R |
probably benign |
Het |
| Ccr10 |
C |
T |
11: 101,065,111 (GRCm39) |
V140M |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,741,051 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,811,283 (GRCm39) |
L1440P |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,519,340 (GRCm39) |
S279P |
probably damaging |
Het |
| Cma1 |
A |
T |
14: 56,179,157 (GRCm39) |
I233N |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,239 (GRCm39) |
E493G |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,219,229 (GRCm39) |
S1890P |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,647,421 (GRCm39) |
R288G |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,662,714 (GRCm39) |
P273L |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,270,134 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,280,751 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
T |
A |
8: 32,229,595 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T5 |
T |
C |
17: 36,472,567 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
G |
A |
7: 45,440,722 (GRCm39) |
D243N |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,690,454 (GRCm39) |
E32G |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,430,397 (GRCm39) |
T451I |
probably damaging |
Het |
| Or2bd2 |
A |
T |
7: 6,443,015 (GRCm39) |
T39S |
probably benign |
Het |
| Or4f15 |
T |
A |
2: 111,814,174 (GRCm39) |
I82F |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,953 (GRCm39) |
I48F |
probably benign |
Het |
| Pcdh12 |
T |
A |
18: 38,417,154 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,301,975 (GRCm39) |
L173P |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,314 (GRCm39) |
Q16R |
probably benign |
Het |
| Ppan |
T |
A |
9: 20,801,069 (GRCm39) |
Y115* |
probably null |
Het |
| Prb1c |
T |
G |
6: 132,338,840 (GRCm39) |
Q126P |
unknown |
Het |
| Prl7d1 |
A |
T |
13: 27,893,230 (GRCm39) |
V227D |
probably damaging |
Het |
| Prss54 |
T |
C |
8: 96,291,106 (GRCm39) |
T165A |
probably damaging |
Het |
| Psrc1 |
A |
G |
3: 108,293,675 (GRCm39) |
I195V |
probably benign |
Het |
| Ptpn20 |
A |
G |
14: 33,353,149 (GRCm39) |
H296R |
probably benign |
Het |
| Rergl |
A |
G |
6: 139,478,819 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Scfd1 |
A |
T |
12: 51,462,372 (GRCm39) |
H409L |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,114,637 (GRCm39) |
E333G |
probably damaging |
Het |
| Serpinb6c |
A |
G |
13: 34,077,800 (GRCm39) |
F190S |
probably damaging |
Het |
| Slc24a5 |
C |
T |
2: 124,927,781 (GRCm39) |
T360I |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,942,198 (GRCm39) |
V1009D |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,733,558 (GRCm39) |
Y110C |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,346 (GRCm39) |
L1255* |
probably null |
Het |
| Tlk1 |
C |
T |
2: 70,582,549 (GRCm39) |
|
probably benign |
Het |
| Tnc |
G |
A |
4: 63,882,967 (GRCm39) |
Q1885* |
probably null |
Het |
| Vcl |
T |
C |
14: 21,060,146 (GRCm39) |
V595A |
probably damaging |
Het |
| Vmn1r84 |
A |
T |
7: 12,095,741 (GRCm39) |
N305K |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,318,508 (GRCm39) |
K506R |
probably damaging |
Het |
|
| Other mutations in Snx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01340:Snx6
|
APN |
12 |
54,801,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02682:Snx6
|
APN |
12 |
54,801,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02995:Snx6
|
APN |
12 |
54,842,295 (GRCm39) |
splice site |
probably benign |
|
|
IGL03240:Snx6
|
APN |
12 |
54,830,228 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03353:Snx6
|
APN |
12 |
54,812,469 (GRCm39) |
splice site |
probably benign |
|
|
PIT4362001:Snx6
|
UTSW |
12 |
54,814,815 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0458:Snx6
|
UTSW |
12 |
54,814,921 (GRCm39) |
nonsense |
probably null |
|
|
R0610:Snx6
|
UTSW |
12 |
54,798,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Snx6
|
UTSW |
12 |
54,810,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1818:Snx6
|
UTSW |
12 |
54,830,259 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1819:Snx6
|
UTSW |
12 |
54,830,259 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4946:Snx6
|
UTSW |
12 |
54,817,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5373:Snx6
|
UTSW |
12 |
54,817,513 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5374:Snx6
|
UTSW |
12 |
54,817,513 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5497:Snx6
|
UTSW |
12 |
54,803,846 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5907:Snx6
|
UTSW |
12 |
54,801,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5947:Snx6
|
UTSW |
12 |
54,817,549 (GRCm39) |
nonsense |
probably null |
|
|
R6178:Snx6
|
UTSW |
12 |
54,807,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6287:Snx6
|
UTSW |
12 |
54,793,813 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6321:Snx6
|
UTSW |
12 |
54,798,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6878:Snx6
|
UTSW |
12 |
54,810,386 (GRCm39) |
splice site |
probably null |
|
|
R7055:Snx6
|
UTSW |
12 |
54,830,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8227:Snx6
|
UTSW |
12 |
54,798,756 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8899:Snx6
|
UTSW |
12 |
54,812,423 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9606:Snx6
|
UTSW |
12 |
54,814,811 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCAATGAACTCTGTAAAGAC -3'
(R):5'- TTGTTGGTCAAGACTACATAGCTG -3'
Sequencing Primer
(F):5'- ACAGCTACTTGGTCAGACTAGGTTC -3'
(R):5'- GGTGCACATATTTACACTCAGACG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation