Incidental Mutation 'R2158:Snx25'
ID |
234987 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx25
|
Ensembl Gene |
ENSMUSG00000038291 |
Gene Name |
sorting nexin 25 |
Synonyms |
LOC382008, SBBI31 |
MMRRC Submission |
040161-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2158 (G1)
|
Quality Score |
87 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
46486298-46605196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46494444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 814
(S814P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041582]
[ENSMUST00000110378]
[ENSMUST00000170416]
|
AlphaFold |
Q3ZT31 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041582
AA Change: S668P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035785 Gene: ENSMUSG00000038291 AA Change: S668P
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: S814P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106007 Gene: ENSMUSG00000038291 AA Change: S814P
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 |
possibly damaging
Transcript: ENSMUST00000170416
AA Change: S668P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127640 Gene: ENSMUSG00000038291 AA Change: S668P
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 |
0.4511 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
T |
C |
19: 3,766,608 (GRCm39) |
V65A |
possibly damaging |
Het |
4930402F06Rik |
A |
T |
2: 35,275,680 (GRCm39) |
S38T |
possibly damaging |
Het |
Adam4 |
A |
G |
12: 81,468,537 (GRCm39) |
L28S |
probably damaging |
Het |
Agmo |
T |
A |
12: 37,407,709 (GRCm39) |
F198I |
probably damaging |
Het |
Akap7 |
A |
G |
10: 25,047,062 (GRCm39) |
V45A |
probably damaging |
Het |
Amotl1 |
G |
T |
9: 14,486,465 (GRCm39) |
N476K |
probably benign |
Het |
Apcs |
A |
G |
1: 172,722,100 (GRCm39) |
L82P |
probably damaging |
Het |
Armc3 |
C |
A |
2: 19,253,444 (GRCm39) |
P195Q |
probably damaging |
Het |
Astn2 |
A |
T |
4: 66,322,491 (GRCm39) |
L36Q |
unknown |
Het |
Atad2 |
A |
T |
15: 57,961,962 (GRCm39) |
S870T |
possibly damaging |
Het |
Bmp10 |
A |
T |
6: 87,411,062 (GRCm39) |
D285V |
probably benign |
Het |
Caskin1 |
T |
C |
17: 24,724,128 (GRCm39) |
V972A |
probably benign |
Het |
Ccdc141 |
T |
A |
2: 76,861,015 (GRCm39) |
N921Y |
probably damaging |
Het |
Cntnap5b |
A |
T |
1: 100,318,297 (GRCm39) |
D1019V |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,810,205 (GRCm39) |
|
probably benign |
Het |
Evi5l |
T |
C |
8: 4,243,195 (GRCm39) |
Y360H |
probably damaging |
Het |
Ewsr1 |
A |
G |
11: 5,041,450 (GRCm39) |
|
probably benign |
Het |
Fn3k |
A |
T |
11: 121,339,712 (GRCm39) |
N158I |
probably damaging |
Het |
Galnt17 |
C |
T |
5: 130,935,540 (GRCm39) |
R381Q |
probably damaging |
Het |
Golga3 |
A |
T |
5: 110,335,227 (GRCm39) |
K180N |
probably damaging |
Het |
Hipk1 |
A |
G |
3: 103,667,854 (GRCm39) |
L571P |
probably damaging |
Het |
Hormad2 |
T |
A |
11: 4,374,808 (GRCm39) |
K69* |
probably null |
Het |
Hspg2 |
A |
T |
4: 137,244,915 (GRCm39) |
D880V |
probably damaging |
Het |
Ido2 |
T |
A |
8: 25,030,652 (GRCm39) |
D226V |
probably damaging |
Het |
Irs3 |
A |
G |
5: 137,642,961 (GRCm39) |
F159S |
probably damaging |
Het |
Itgb1bp1 |
T |
C |
12: 21,326,860 (GRCm39) |
T38A |
probably damaging |
Het |
Kif11 |
A |
G |
19: 37,399,062 (GRCm39) |
I749V |
probably benign |
Het |
Lrp1b |
T |
G |
2: 40,769,567 (GRCm39) |
M2811L |
probably benign |
Het |
Lysmd3 |
A |
G |
13: 81,817,737 (GRCm39) |
Y238C |
probably damaging |
Het |
Mapk11 |
G |
A |
15: 89,030,575 (GRCm39) |
T106M |
probably damaging |
Het |
Mdga2 |
C |
T |
12: 66,736,155 (GRCm39) |
V358I |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,754,563 (GRCm38) |
T1479I |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,371,592 (GRCm39) |
V578A |
possibly damaging |
Het |
Nek10 |
T |
G |
14: 14,885,047 (GRCm38) |
|
probably null |
Het |
Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
Or2t47 |
T |
A |
11: 58,442,768 (GRCm39) |
Q99L |
probably damaging |
Het |
Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
Or51a24 |
T |
G |
7: 103,734,033 (GRCm39) |
T85P |
probably benign |
Het |
Or51v14 |
G |
C |
7: 103,261,443 (GRCm39) |
T39R |
possibly damaging |
Het |
Or52a5b |
G |
T |
7: 103,417,168 (GRCm39) |
C145* |
probably null |
Het |
Or8d23 |
T |
C |
9: 38,841,875 (GRCm39) |
M136T |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,664,937 (GRCm39) |
C333S |
probably benign |
Het |
Pglyrp2 |
T |
A |
17: 32,637,222 (GRCm39) |
I269F |
probably benign |
Het |
Plch1 |
A |
G |
3: 63,628,655 (GRCm39) |
V536A |
probably benign |
Het |
Popdc2 |
T |
A |
16: 38,183,188 (GRCm39) |
L57Q |
probably damaging |
Het |
Pramel14 |
T |
C |
4: 143,720,885 (GRCm39) |
R19G |
possibly damaging |
Het |
Riox1 |
A |
G |
12: 83,997,709 (GRCm39) |
K82E |
probably benign |
Het |
Rnasel |
G |
A |
1: 153,630,647 (GRCm39) |
V388M |
probably damaging |
Het |
Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
Spta1 |
A |
T |
1: 174,056,824 (GRCm39) |
H1859L |
probably benign |
Het |
Strc |
T |
C |
2: 121,196,343 (GRCm39) |
I1562V |
probably benign |
Het |
Taar5 |
T |
A |
10: 23,846,986 (GRCm39) |
I128N |
probably damaging |
Het |
Ttc28 |
C |
T |
5: 111,325,483 (GRCm39) |
|
probably benign |
Het |
Vcan |
A |
T |
13: 89,851,648 (GRCm39) |
M1104K |
possibly damaging |
Het |
Vnn1 |
C |
T |
10: 23,776,653 (GRCm39) |
Q335* |
probably null |
Het |
Zic1 |
T |
C |
9: 91,246,946 (GRCm39) |
D42G |
possibly damaging |
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 |
|
R0056:Snx25
|
UTSW |
8 |
46,491,550 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGTGTAACACCTGAAGCATC -3'
(R):5'- AAGCTTTGAATCTGGCTGTAGAG -3'
Sequencing Primer
(F):5'- CTTGGATGCATGAACACATGAGTAC -3'
(R):5'- TGTAGAGTCAGGCTGTCCC -3'
|
Posted On |
2014-10-01 |