Incidental Mutation 'R0056:Snx25'
| ID |
16962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx25
|
| Ensembl Gene |
ENSMUSG00000038291 |
| Gene Name |
sorting nexin 25 |
| Synonyms |
LOC382008, SBBI31 |
| MMRRC Submission |
038350-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0056 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
46486298-46605196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46491550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 847
(W847R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041582]
[ENSMUST00000110378]
[ENSMUST00000170416]
|
| AlphaFold |
Q3ZT31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041582
AA Change: W701R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291
AA Change: W701R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PXA
|
1 |
163 |
9e-32 |
PFAM |
|
RGS
|
287 |
401 |
6.62e-10 |
SMART |
|
low complexity region
|
421 |
438 |
N/A |
INTRINSIC |
|
PX
|
512 |
624 |
1.38e-10 |
SMART |
|
low complexity region
|
658 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
676 |
N/A |
INTRINSIC |
|
Pfam:Nexin_C
|
701 |
808 |
1.7e-35 |
PFAM |
|
low complexity region
|
812 |
828 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110378
AA Change: W847R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291
AA Change: W847R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
Pfam:PXA
|
145 |
306 |
8.7e-30 |
PFAM |
|
RGS
|
433 |
547 |
6.62e-10 |
SMART |
|
low complexity region
|
567 |
584 |
N/A |
INTRINSIC |
|
PX
|
658 |
770 |
1.38e-10 |
SMART |
|
low complexity region
|
804 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
822 |
N/A |
INTRINSIC |
|
Pfam:Nexin_C
|
847 |
953 |
1e-28 |
PFAM |
|
low complexity region
|
958 |
974 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170416
AA Change: W701R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291
AA Change: W701R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PXA
|
1 |
163 |
9e-32 |
PFAM |
|
RGS
|
287 |
401 |
6.62e-10 |
SMART |
|
low complexity region
|
421 |
438 |
N/A |
INTRINSIC |
|
PX
|
512 |
624 |
1.38e-10 |
SMART |
|
low complexity region
|
658 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
676 |
N/A |
INTRINSIC |
|
Pfam:Nexin_C
|
701 |
808 |
1.7e-35 |
PFAM |
|
low complexity region
|
812 |
828 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176410
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177186
|
| Meta Mutation Damage Score |
0.9668 |
| Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.3%
- 10x: 78.7%
- 20x: 65.9%
|
| Validation Efficiency |
89% (66/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,540 (GRCm39) |
C561* |
probably null |
Het |
| Ankfn1 |
A |
G |
11: 89,282,502 (GRCm39) |
S1061P |
possibly damaging |
Het |
| Atp9b |
A |
G |
18: 80,809,018 (GRCm39) |
S634P |
probably damaging |
Het |
| Bche |
A |
T |
3: 73,608,654 (GRCm39) |
N257K |
possibly damaging |
Het |
| Bms1 |
A |
T |
6: 118,382,190 (GRCm39) |
D449E |
probably benign |
Het |
| C630050I24Rik |
G |
T |
8: 107,846,026 (GRCm39) |
V59F |
unknown |
Het |
| Camkk2 |
C |
T |
5: 122,880,261 (GRCm39) |
E452K |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,118 (GRCm39) |
Y278C |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,660,165 (GRCm39) |
H375R |
possibly damaging |
Het |
| Entpd7 |
T |
A |
19: 43,713,733 (GRCm39) |
V364E |
probably benign |
Het |
| Epb41l3 |
A |
T |
17: 69,560,392 (GRCm39) |
D313V |
probably damaging |
Het |
| Etv6 |
G |
T |
6: 134,225,497 (GRCm39) |
E154* |
probably null |
Het |
| Fshr |
T |
G |
17: 89,295,885 (GRCm39) |
H274P |
probably damaging |
Het |
| G3bp1 |
A |
G |
11: 55,388,867 (GRCm39) |
N360D |
probably benign |
Het |
| Gdf11 |
C |
T |
10: 128,722,294 (GRCm39) |
R187H |
probably benign |
Het |
| Gpihbp1 |
T |
A |
15: 75,468,982 (GRCm39) |
I52N |
probably damaging |
Het |
| H1f8 |
G |
T |
6: 115,923,934 (GRCm39) |
|
probably benign |
Het |
| Htt |
T |
C |
5: 34,983,422 (GRCm39) |
|
probably benign |
Het |
| Iqcm |
A |
G |
8: 76,480,014 (GRCm39) |
Q324R |
probably benign |
Het |
| Kcng3 |
A |
G |
17: 83,895,185 (GRCm39) |
L427P |
probably damaging |
Het |
| Klk7 |
T |
C |
7: 43,461,434 (GRCm39) |
L17P |
possibly damaging |
Het |
| Klrd1 |
G |
A |
6: 129,570,738 (GRCm39) |
V50I |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,828,899 (GRCm39) |
|
probably benign |
Het |
| Lamtor3 |
T |
A |
3: 137,632,711 (GRCm39) |
|
probably benign |
Het |
| Lyplal1 |
G |
A |
1: 185,820,763 (GRCm39) |
T228I |
probably benign |
Het |
| Mapk6 |
A |
G |
9: 75,296,098 (GRCm39) |
Y467H |
possibly damaging |
Het |
| Marchf6 |
T |
C |
15: 31,467,880 (GRCm39) |
T776A |
possibly damaging |
Het |
| Mogat1 |
T |
G |
1: 78,500,407 (GRCm39) |
M157R |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,357,733 (GRCm39) |
Q13L |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,468,273 (GRCm39) |
T356I |
probably damaging |
Het |
| Ncoa2 |
C |
A |
1: 117,516,497 (GRCm38) |
|
probably null |
Het |
| Nobox |
A |
G |
6: 43,281,853 (GRCm39) |
C407R |
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,476,924 (GRCm39) |
|
probably null |
Het |
| Or56a4 |
A |
G |
7: 104,806,329 (GRCm39) |
S187P |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,730,570 (GRCm39) |
Y590C |
probably benign |
Het |
| Pelp1 |
A |
T |
11: 70,284,658 (GRCm39) |
V1070E |
unknown |
Het |
| Pglyrp3 |
G |
T |
3: 91,933,111 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
A |
G |
10: 79,363,063 (GRCm39) |
F189S |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,482,382 (GRCm39) |
I640T |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,924 (GRCm39) |
T3047S |
probably damaging |
Het |
| Son |
T |
C |
16: 91,475,043 (GRCm39) |
Y454H |
possibly damaging |
Het |
| Sos1 |
A |
T |
17: 80,721,050 (GRCm39) |
N923K |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,072,055 (GRCm39) |
H2534R |
probably benign |
Het |
| Ticam2 |
G |
T |
18: 46,693,401 (GRCm39) |
Q229K |
possibly damaging |
Het |
| Tnfaip3 |
A |
T |
10: 18,881,041 (GRCm39) |
V342E |
probably damaging |
Het |
| Traf6 |
A |
G |
2: 101,527,496 (GRCm39) |
I415M |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,893,334 (GRCm39) |
D1062G |
probably damaging |
Het |
| Wdr59 |
C |
T |
8: 112,207,239 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Snx25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Snx25
|
APN |
8 |
46,491,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Snx25
|
APN |
8 |
46,558,197 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01600:Snx25
|
APN |
8 |
46,569,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02150:Snx25
|
APN |
8 |
46,569,318 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02386:Snx25
|
APN |
8 |
46,494,386 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02691:Snx25
|
APN |
8 |
46,558,302 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03338:Snx25
|
APN |
8 |
46,498,247 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03377:Snx25
|
APN |
8 |
46,533,338 (GRCm39) |
unclassified |
probably benign |
|
|
duo
|
UTSW |
8 |
46,577,119 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
R0047:Snx25
|
UTSW |
8 |
46,494,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0047:Snx25
|
UTSW |
8 |
46,494,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0048:Snx25
|
UTSW |
8 |
46,558,146 (GRCm39) |
splice site |
probably benign |
|
|
R0048:Snx25
|
UTSW |
8 |
46,558,146 (GRCm39) |
splice site |
probably benign |
|
|
R0546:Snx25
|
UTSW |
8 |
46,556,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0791:Snx25
|
UTSW |
8 |
46,577,119 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
R1165:Snx25
|
UTSW |
8 |
46,488,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1255:Snx25
|
UTSW |
8 |
46,569,275 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1262:Snx25
|
UTSW |
8 |
46,558,328 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1522:Snx25
|
UTSW |
8 |
46,577,119 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
R1652:Snx25
|
UTSW |
8 |
46,502,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1710:Snx25
|
UTSW |
8 |
46,569,244 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1829:Snx25
|
UTSW |
8 |
46,488,669 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2090:Snx25
|
UTSW |
8 |
46,509,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2158:Snx25
|
UTSW |
8 |
46,494,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2906:Snx25
|
UTSW |
8 |
46,502,560 (GRCm39) |
splice site |
probably null |
|
|
R4244:Snx25
|
UTSW |
8 |
46,558,291 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4394:Snx25
|
UTSW |
8 |
46,488,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4465:Snx25
|
UTSW |
8 |
46,521,266 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4586:Snx25
|
UTSW |
8 |
46,569,474 (GRCm39) |
intron |
probably benign |
|
|
R4663:Snx25
|
UTSW |
8 |
46,488,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4961:Snx25
|
UTSW |
8 |
46,521,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5104:Snx25
|
UTSW |
8 |
46,521,203 (GRCm39) |
makesense |
probably null |
|
|
R5634:Snx25
|
UTSW |
8 |
46,494,428 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6128:Snx25
|
UTSW |
8 |
46,558,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6344:Snx25
|
UTSW |
8 |
46,488,675 (GRCm39) |
nonsense |
probably null |
|
|
R6382:Snx25
|
UTSW |
8 |
46,509,028 (GRCm39) |
missense |
probably benign |
|
|
R6523:Snx25
|
UTSW |
8 |
46,508,892 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6798:Snx25
|
UTSW |
8 |
46,486,810 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7143:Snx25
|
UTSW |
8 |
46,488,752 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7147:Snx25
|
UTSW |
8 |
46,558,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7519:Snx25
|
UTSW |
8 |
46,569,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7723:Snx25
|
UTSW |
8 |
46,491,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9084:Snx25
|
UTSW |
8 |
46,521,203 (GRCm39) |
makesense |
probably null |
|
|
R9519:Snx25
|
UTSW |
8 |
46,486,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF002:Snx25
|
UTSW |
8 |
46,569,218 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation