Incidental Mutation 'IGL02150:Snx25'
| ID |
281950 |
| 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 # |
IGL02150
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
46486298-46605196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46569318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 193
(R193L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041582]
[ENSMUST00000110377]
[ENSMUST00000110378]
[ENSMUST00000170416]
|
| AlphaFold |
Q3ZT31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041582
AA Change: R47L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291
AA Change: R47L
| 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: ENSMUST00000110377
AA Change: R47L
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106006
Gene: ENSMUSG00000038291
AA Change: R47L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PXA
|
1 |
138 |
5.8e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110378
AA Change: R193L
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291
AA Change: R193L
| 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 benign
Transcript: ENSMUST00000170416
AA Change: R47L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291
AA Change: R47L
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
C |
T |
9: 65,420,001 (GRCm39) |
G92S |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,414,568 (GRCm39) |
M1221K |
unknown |
Het |
| Arl10 |
G |
A |
13: 54,726,662 (GRCm39) |
V147M |
probably damaging |
Het |
| Bbs4 |
T |
C |
9: 59,243,651 (GRCm39) |
N152S |
probably benign |
Het |
| Cacna2d2 |
T |
G |
9: 107,404,515 (GRCm39) |
|
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,340,582 (GRCm39) |
E582G |
probably benign |
Het |
| Cct2 |
A |
T |
10: 116,898,004 (GRCm39) |
L61Q |
probably damaging |
Het |
| Clip4 |
A |
G |
17: 72,106,071 (GRCm39) |
I85V |
probably damaging |
Het |
| Daam2 |
A |
T |
17: 49,797,332 (GRCm39) |
L151Q |
possibly damaging |
Het |
| Dlst |
T |
A |
12: 85,177,807 (GRCm39) |
I400N |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,968,089 (GRCm39) |
|
probably benign |
Het |
| Dynlrb2 |
A |
G |
8: 117,242,449 (GRCm39) |
N93S |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,335,899 (GRCm39) |
T407A |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,077,517 (GRCm39) |
D891G |
possibly damaging |
Het |
| Enpp4 |
A |
C |
17: 44,413,049 (GRCm39) |
S162A |
probably benign |
Het |
| Epas1 |
A |
G |
17: 87,112,717 (GRCm39) |
D105G |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,846,204 (GRCm39) |
Y965* |
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,747,927 (GRCm39) |
I1778N |
probably damaging |
Het |
| Gm14496 |
A |
C |
2: 181,633,140 (GRCm39) |
D41A |
probably damaging |
Het |
| Gm7008 |
T |
A |
12: 40,273,257 (GRCm39) |
|
probably benign |
Het |
| Hcfc2 |
G |
A |
10: 82,545,852 (GRCm39) |
S246N |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,815,974 (GRCm39) |
N1366S |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,361,986 (GRCm39) |
R372G |
possibly damaging |
Het |
| Map2k7 |
A |
G |
8: 4,293,818 (GRCm39) |
M153V |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,045,842 (GRCm39) |
|
probably null |
Het |
| Mgat4c |
A |
C |
10: 102,224,983 (GRCm39) |
E399A |
probably benign |
Het |
| Myorg |
A |
G |
4: 41,499,183 (GRCm39) |
V149A |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,094,584 (GRCm39) |
Q942* |
probably null |
Het |
| Notch4 |
A |
G |
17: 34,803,587 (GRCm39) |
E1502G |
probably damaging |
Het |
| Optn |
A |
C |
2: 5,037,963 (GRCm39) |
I410M |
probably damaging |
Het |
| Or6b9 |
G |
T |
7: 106,555,763 (GRCm39) |
P127T |
probably damaging |
Het |
| Or8c17 |
A |
T |
9: 38,180,564 (GRCm39) |
I252L |
possibly damaging |
Het |
| Ppp1ca |
G |
A |
19: 4,244,698 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
A |
4: 143,999,771 (GRCm39) |
L105F |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,610,502 (GRCm39) |
N706K |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,421,968 (GRCm39) |
T6S |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,179,683 (GRCm39) |
H1308R |
probably benign |
Het |
| Scart2 |
G |
A |
7: 139,877,772 (GRCm39) |
G918D |
possibly damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,984 (GRCm39) |
|
probably benign |
Het |
| Sh2d5 |
G |
A |
4: 137,985,553 (GRCm39) |
D334N |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,742,988 (GRCm39) |
I360F |
unknown |
Het |
| Slc12a1 |
G |
A |
2: 125,026,735 (GRCm39) |
D457N |
probably damaging |
Het |
| Slco2a1 |
C |
T |
9: 102,962,017 (GRCm39) |
A563V |
probably damaging |
Het |
| Snrnp35 |
G |
A |
5: 124,628,471 (GRCm39) |
A95T |
probably damaging |
Het |
| Stxbp5 |
T |
G |
10: 9,638,565 (GRCm39) |
Q1078P |
probably damaging |
Het |
| Tmc2 |
A |
T |
2: 130,082,073 (GRCm39) |
I419F |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,190,557 (GRCm39) |
W525R |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,428,013 (GRCm39) |
S428T |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,165,943 (GRCm39) |
A42V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,679,316 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,306,465 (GRCm39) |
L289* |
probably null |
Het |
| Vwa5b2 |
A |
T |
16: 20,423,576 (GRCm39) |
Q1163L |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,208,593 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
G |
15: 8,112,030 (GRCm39) |
K71T |
possibly damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,368,186 (GRCm39) |
S625P |
possibly damaging |
Het |
| Zfp518b |
A |
G |
5: 38,830,686 (GRCm39) |
S440P |
probably damaging |
Het |
| Zfp518b |
A |
G |
5: 38,831,132 (GRCm39) |
V291A |
probably damaging |
Het |
| Zmym2 |
G |
A |
14: 57,148,526 (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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation