Incidental Mutation 'R2906:Snx25'
ID |
261656 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx25
|
Ensembl Gene |
ENSMUSG00000038291 |
Gene Name |
sorting nexin 25 |
Synonyms |
LOC382008, SBBI31 |
MMRRC Submission |
040493-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2906 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
46486298-46605196 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 46502560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041582]
[ENSMUST00000041582]
[ENSMUST00000110378]
[ENSMUST00000110378]
[ENSMUST00000170416]
[ENSMUST00000170416]
|
AlphaFold |
Q3ZT31 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041582
|
SMART Domains |
Protein: ENSMUSP00000035785 Gene: ENSMUSG00000038291
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 null
Transcript: ENSMUST00000041582
|
SMART Domains |
Protein: ENSMUSP00000035785 Gene: ENSMUSG00000038291
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 null
Transcript: ENSMUST00000110378
|
SMART Domains |
Protein: ENSMUSP00000106007 Gene: ENSMUSG00000038291
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 null
Transcript: ENSMUST00000110378
|
SMART Domains |
Protein: ENSMUSP00000106007 Gene: ENSMUSG00000038291
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 null
Transcript: ENSMUST00000170416
|
SMART Domains |
Protein: ENSMUSP00000127640 Gene: ENSMUSG00000038291
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 null
Transcript: ENSMUST00000170416
|
SMART Domains |
Protein: ENSMUSP00000127640 Gene: ENSMUSG00000038291
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,308,694 (GRCm39) |
I800T |
probably benign |
Het |
Afg3l2 |
G |
A |
18: 67,573,292 (GRCm39) |
T170M |
probably damaging |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,871,850 (GRCm39) |
T432A |
possibly damaging |
Het |
Col13a1 |
T |
C |
10: 61,696,267 (GRCm39) |
|
probably benign |
Het |
Ddx4 |
G |
T |
13: 112,757,311 (GRCm39) |
|
probably benign |
Het |
Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
Duoxa1 |
C |
T |
2: 122,135,155 (GRCm39) |
V197M |
probably benign |
Het |
Gm6430 |
A |
T |
1: 96,952,554 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2a1l |
G |
A |
17: 89,002,083 (GRCm39) |
R313H |
possibly damaging |
Het |
Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
Lax1 |
A |
T |
1: 133,616,643 (GRCm39) |
M1K |
probably null |
Het |
Lce1k |
T |
C |
3: 92,713,882 (GRCm39) |
S101G |
unknown |
Het |
Med12l |
T |
C |
3: 59,164,503 (GRCm39) |
L1365P |
probably damaging |
Het |
Mtx2 |
T |
C |
2: 74,697,253 (GRCm39) |
S83P |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,504 (GRCm39) |
C511G |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,890,216 (GRCm39) |
I801T |
probably benign |
Het |
Or8g24 |
A |
G |
9: 38,989,669 (GRCm39) |
V124A |
probably benign |
Het |
Oxct2b |
A |
G |
4: 123,010,823 (GRCm39) |
I248V |
probably benign |
Het |
Pcdhgb2 |
A |
T |
18: 37,823,908 (GRCm39) |
I300F |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,992,272 (GRCm39) |
A1285V |
possibly damaging |
Het |
Rassf3 |
A |
G |
10: 121,250,297 (GRCm39) |
L172P |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
Rpusd1 |
T |
C |
17: 25,949,705 (GRCm39) |
S292P |
probably benign |
Het |
Scamp5 |
A |
G |
9: 57,351,146 (GRCm39) |
V172A |
probably damaging |
Het |
Tmprss11g |
A |
G |
5: 86,640,661 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
G |
C |
6: 113,369,471 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Usp45 |
T |
A |
4: 21,834,338 (GRCm39) |
Y805* |
probably null |
Het |
Zfp639 |
T |
C |
3: 32,573,900 (GRCm39) |
L175P |
probably damaging |
Het |
Zfp995 |
T |
C |
17: 22,099,247 (GRCm39) |
D329G |
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 |
|
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 |
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'- AGCAATGATACCTCTGCGC -3'
(R):5'- TTGTCCCTGGGCATTCTTAGTTAA -3'
Sequencing Primer
(F):5'- CAATGATACCTCTGCGCTGGTG -3'
(R):5'- TTCCAGGCCATGAACTTAGG -3'
|
Posted On |
2015-01-23 |