Incidental Mutation 'R4961:Snx25'
ID |
381766 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx25
|
Ensembl Gene |
ENSMUSG00000038291 |
Gene Name |
sorting nexin 25 |
Synonyms |
LOC382008, SBBI31 |
MMRRC Submission |
042558-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4961 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
46486298-46605196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46521229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 239
(N239S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041582]
[ENSMUST00000110377]
[ENSMUST00000110378]
[ENSMUST00000170416]
|
AlphaFold |
Q3ZT31 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041582
AA Change: N239S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000035785 Gene: ENSMUSG00000038291 AA Change: N239S
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
|
SMART Domains |
Protein: ENSMUSP00000106006 Gene: ENSMUSG00000038291
Domain | Start | End | E-Value | Type |
Pfam:PXA
|
1 |
138 |
5.8e-24 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110378
AA Change: N385S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106007 Gene: ENSMUSG00000038291 AA Change: N385S
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 |
unknown
Transcript: ENSMUST00000144244
AA Change: N58S
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170416
AA Change: N239S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127640 Gene: ENSMUSG00000038291 AA Change: N239S
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 |
0.0948 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 88.3%
|
Validation Efficiency |
95% (62/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082I17Rik |
T |
C |
5: 139,349,855 (GRCm39) |
K65E |
probably damaging |
Het |
Acp5 |
C |
A |
9: 22,041,233 (GRCm39) |
A65S |
probably benign |
Het |
Adad2 |
G |
A |
8: 120,342,397 (GRCm39) |
R345H |
probably damaging |
Het |
Adamts7 |
G |
T |
9: 90,067,793 (GRCm39) |
G428W |
probably damaging |
Het |
Amy1 |
A |
G |
3: 113,355,498 (GRCm39) |
S326P |
probably damaging |
Het |
Ankrd44 |
C |
T |
1: 54,703,071 (GRCm39) |
D482N |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Ano8 |
G |
C |
8: 71,935,640 (GRCm39) |
P326R |
probably damaging |
Het |
Arhgef26 |
A |
G |
3: 62,367,046 (GRCm39) |
E793G |
probably damaging |
Het |
Cd9 |
A |
T |
6: 125,440,703 (GRCm39) |
V96E |
probably damaging |
Het |
Cdh9 |
A |
G |
15: 16,850,914 (GRCm39) |
N561S |
probably benign |
Het |
Col16a1 |
G |
A |
4: 129,948,272 (GRCm39) |
|
probably null |
Het |
Cpne7 |
G |
A |
8: 123,860,498 (GRCm39) |
G484R |
probably damaging |
Het |
Dcun1d4 |
A |
T |
5: 73,701,463 (GRCm39) |
K194* |
probably null |
Het |
Dock3 |
A |
G |
9: 106,818,515 (GRCm39) |
V1193A |
probably damaging |
Het |
Dst |
A |
G |
1: 34,007,904 (GRCm39) |
R113G |
possibly damaging |
Het |
Epha5 |
A |
T |
5: 84,381,502 (GRCm39) |
S450T |
probably damaging |
Het |
Gm5581 |
A |
T |
6: 131,144,190 (GRCm39) |
|
noncoding transcript |
Het |
Grhl3 |
A |
G |
4: 135,279,918 (GRCm39) |
Y379H |
probably damaging |
Het |
Herpud1 |
T |
C |
8: 95,117,454 (GRCm39) |
S13P |
probably benign |
Het |
Jam2 |
C |
T |
16: 84,606,435 (GRCm39) |
Q150* |
probably null |
Het |
Jph2 |
C |
G |
2: 163,217,668 (GRCm39) |
R336P |
probably damaging |
Het |
Kansl3 |
T |
A |
1: 36,387,764 (GRCm39) |
|
probably null |
Het |
Kctd1 |
G |
A |
18: 15,195,580 (GRCm39) |
P348S |
probably damaging |
Het |
Klhl30 |
T |
A |
1: 91,285,106 (GRCm39) |
S321T |
possibly damaging |
Het |
Klhl5 |
T |
C |
5: 65,310,033 (GRCm39) |
|
probably benign |
Het |
Letm2 |
T |
C |
8: 26,084,108 (GRCm39) |
H41R |
possibly damaging |
Het |
Ltn1 |
A |
T |
16: 87,194,679 (GRCm39) |
C1407S |
probably benign |
Het |
Map1b |
T |
C |
13: 99,572,161 (GRCm39) |
T187A |
probably damaging |
Het |
Marveld2 |
T |
C |
13: 100,748,431 (GRCm39) |
N216S |
probably benign |
Het |
Matn1 |
A |
G |
4: 130,680,234 (GRCm39) |
Y437C |
probably damaging |
Het |
Oas1h |
T |
C |
5: 121,009,159 (GRCm39) |
Y290H |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,417,035 (GRCm39) |
|
probably null |
Het |
Or2m12 |
C |
A |
16: 19,104,726 (GRCm39) |
G256W |
probably damaging |
Het |
Or4k51 |
A |
T |
2: 111,584,750 (GRCm39) |
D52V |
probably damaging |
Het |
Or8g34 |
A |
G |
9: 39,373,183 (GRCm39) |
Y152C |
probably damaging |
Het |
Otof |
C |
A |
5: 30,540,837 (GRCm39) |
|
probably benign |
Het |
Pcdh15 |
G |
T |
10: 74,215,249 (GRCm39) |
|
probably null |
Het |
Pgk2 |
G |
A |
17: 40,518,412 (GRCm39) |
P339S |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,186,032 (GRCm39) |
|
probably null |
Het |
Prex2 |
A |
G |
1: 11,168,705 (GRCm39) |
T234A |
possibly damaging |
Het |
Rasgrf1 |
C |
T |
9: 89,826,922 (GRCm39) |
T177M |
probably benign |
Het |
Rgs1 |
A |
T |
1: 144,124,309 (GRCm39) |
|
probably null |
Het |
Spata31d1a |
T |
A |
13: 59,849,716 (GRCm39) |
H804L |
possibly damaging |
Het |
Spon2 |
A |
T |
5: 33,371,896 (GRCm39) |
Y303* |
probably null |
Het |
Spopfm2 |
A |
T |
3: 94,082,841 (GRCm39) |
C323* |
probably null |
Het |
Thrb |
G |
A |
14: 18,011,076 (GRCm38) |
D151N |
probably benign |
Het |
Tns1 |
A |
G |
1: 73,975,074 (GRCm39) |
V1170A |
probably benign |
Het |
Trbv19 |
A |
T |
6: 41,155,706 (GRCm39) |
I26F |
probably damaging |
Het |
Tstd2 |
T |
C |
4: 46,120,467 (GRCm39) |
N311S |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,715,746 (GRCm39) |
|
probably benign |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Vmn1r185 |
G |
A |
7: 26,310,716 (GRCm39) |
A263V |
probably benign |
Het |
Zfp316 |
T |
C |
5: 143,239,169 (GRCm39) |
H950R |
probably damaging |
Het |
Zfp51 |
A |
G |
17: 21,676,615 (GRCm39) |
K29E |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,766,081 (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 |
|
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 |
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'- TCAATAACATGCTTGTGCTCAC -3'
(R):5'- CACATGCCTGTAATAATACATGCC -3'
Sequencing Primer
(F):5'- GCTCACACTGTGTTTATAATAACTGG -3'
(R):5'- AGGTGCAGGCCTTTAATCAC -3'
|
Posted On |
2016-04-27 |