Incidental Mutation 'IGL03338:Snx25'
ID |
417080 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Snx25
|
Ensembl Gene |
ENSMUSG00000038291 |
Gene Name |
sorting nexin 25 |
Synonyms |
LOC382008, SBBI31 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03338
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
46486298-46605196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46498247 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 595
(R595S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041582]
[ENSMUST00000110378]
[ENSMUST00000170416]
|
AlphaFold |
Q3ZT31 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041582
AA Change: R595S
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000035785 Gene: ENSMUSG00000038291 AA Change: R595S
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 benign
Transcript: ENSMUST00000110378
AA Change: R741S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000106007 Gene: ENSMUSG00000038291 AA Change: R741S
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 |
noncoding transcript
Transcript: ENSMUST00000136097
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170416
AA Change: R595S
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000127640 Gene: ENSMUSG00000038291 AA Change: R595S
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,744,153 (GRCm39) |
V260M |
probably damaging |
Het |
Accsl |
T |
A |
2: 93,686,092 (GRCm39) |
H575L |
probably benign |
Het |
Armc3 |
A |
T |
2: 19,253,512 (GRCm39) |
I218F |
possibly damaging |
Het |
Bora |
C |
A |
14: 99,310,178 (GRCm39) |
N502K |
probably damaging |
Het |
Brd4 |
T |
A |
17: 32,432,046 (GRCm39) |
D606V |
probably damaging |
Het |
Ccdc190 |
T |
A |
1: 169,757,544 (GRCm39) |
M1K |
probably null |
Het |
Ccl25 |
T |
C |
8: 4,399,898 (GRCm39) |
|
probably benign |
Het |
Cep78 |
G |
T |
19: 15,936,987 (GRCm39) |
T573K |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cntn4 |
C |
T |
6: 106,632,550 (GRCm39) |
H525Y |
probably damaging |
Het |
D630039A03Rik |
T |
C |
4: 57,910,509 (GRCm39) |
E101G |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,387,403 (GRCm39) |
V941A |
probably benign |
Het |
Exoc6b |
A |
G |
6: 84,821,112 (GRCm39) |
I559T |
probably damaging |
Het |
Fmr1 |
T |
C |
X: 67,731,942 (GRCm39) |
|
probably null |
Het |
Ghr |
A |
T |
15: 3,377,024 (GRCm39) |
C66S |
probably damaging |
Het |
Hook1 |
C |
A |
4: 95,886,929 (GRCm39) |
|
probably benign |
Het |
Igsf1 |
T |
C |
X: 48,876,376 (GRCm39) |
T73A |
probably benign |
Het |
Ipo8 |
T |
C |
6: 148,701,755 (GRCm39) |
K451R |
probably benign |
Het |
Irs1 |
A |
G |
1: 82,266,122 (GRCm39) |
V698A |
probably benign |
Het |
Kat2a |
T |
C |
11: 100,602,301 (GRCm39) |
D151G |
probably benign |
Het |
Lyrm1 |
A |
T |
7: 119,513,469 (GRCm39) |
Q78L |
probably benign |
Het |
Madd |
C |
T |
2: 90,992,507 (GRCm39) |
G1012E |
possibly damaging |
Het |
Mboat1 |
T |
A |
13: 30,320,742 (GRCm39) |
D31E |
probably benign |
Het |
Myh8 |
C |
A |
11: 67,189,172 (GRCm39) |
A1116D |
probably damaging |
Het |
Nop2 |
G |
A |
6: 125,116,695 (GRCm39) |
|
probably null |
Het |
Notch1 |
A |
G |
2: 26,349,971 (GRCm39) |
S2390P |
probably benign |
Het |
Or10ag57 |
T |
G |
2: 87,218,470 (GRCm39) |
N140K |
probably benign |
Het |
Or52z14 |
T |
A |
7: 103,253,615 (GRCm39) |
C251* |
probably null |
Het |
Or6c66b |
A |
G |
10: 129,376,925 (GRCm39) |
D173G |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,467,816 (GRCm39) |
S272P |
probably damaging |
Het |
Plg |
A |
G |
17: 12,637,959 (GRCm39) |
Y795C |
probably damaging |
Het |
Polr3e |
A |
G |
7: 120,536,843 (GRCm39) |
K335R |
probably benign |
Het |
Pramel13 |
T |
A |
4: 144,121,397 (GRCm39) |
Y209F |
probably benign |
Het |
Pramel24 |
T |
C |
4: 143,453,312 (GRCm39) |
I140T |
probably benign |
Het |
Pramel28 |
T |
C |
4: 143,692,411 (GRCm39) |
I197V |
probably benign |
Het |
Pramel28 |
T |
A |
4: 143,692,608 (GRCm39) |
Q131L |
probably benign |
Het |
Prdm4 |
A |
T |
10: 85,743,685 (GRCm39) |
M190K |
possibly damaging |
Het |
Prex2 |
T |
A |
1: 11,210,489 (GRCm39) |
F597L |
probably benign |
Het |
Ranbp3l |
A |
G |
15: 9,060,940 (GRCm39) |
E403G |
probably damaging |
Het |
Rgmb |
C |
T |
17: 16,027,565 (GRCm39) |
A385T |
possibly damaging |
Het |
Scn4a |
T |
A |
11: 106,211,671 (GRCm39) |
I1449F |
probably damaging |
Het |
Slc17a9 |
T |
C |
2: 180,382,311 (GRCm39) |
|
probably benign |
Het |
Slc26a2 |
T |
C |
18: 61,331,974 (GRCm39) |
I486V |
probably damaging |
Het |
Sntn |
A |
T |
14: 13,678,991 (GRCm38) |
D55V |
probably damaging |
Het |
Spag11b |
C |
T |
8: 19,191,426 (GRCm39) |
T33I |
probably damaging |
Het |
Sval2 |
A |
G |
6: 41,841,181 (GRCm39) |
I81M |
probably damaging |
Het |
Tab2 |
A |
G |
10: 7,795,039 (GRCm39) |
V481A |
probably damaging |
Het |
Zfp867 |
G |
A |
11: 59,355,003 (GRCm39) |
Q109* |
probably null |
Het |
Zfp935 |
T |
C |
13: 62,602,247 (GRCm39) |
T318A |
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 |
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 |
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 |
2016-08-02 |