Incidental Mutation 'R1262:Snx25'
| ID |
151626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx25
|
| Ensembl Gene |
ENSMUSG00000038291 |
| Gene Name |
sorting nexin 25 |
| Synonyms |
LOC382008, SBBI31 |
| MMRRC Submission |
039329-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1262 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
46033261-46152159 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46105291 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 80
(R80S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041582]
[ENSMUST00000110377]
[ENSMUST00000110378]
[ENSMUST00000170416]
|
| AlphaFold |
Q3ZT31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041582
AA Change: R80S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291
AA Change: R80S
| 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: ENSMUST00000110377
AA Change: R80S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106006
Gene: ENSMUSG00000038291
AA Change: R80S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PXA
|
1 |
138 |
5.8e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110378
AA Change: R226S
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291
AA Change: R226S
| 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: ENSMUST00000150645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158004
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170416
AA Change: R80S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291
AA Change: R80S
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,935,488 |
V114A |
probably benign |
Het |
| BC048679 |
A |
G |
7: 81,495,341 |
F85L |
probably benign |
Het |
| Btbd7 |
A |
G |
12: 102,787,951 |
I852T |
probably benign |
Het |
| Cenpk |
T |
A |
13: 104,230,785 |
V43E |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,719,450 |
M336I |
probably benign |
Het |
| Cyp2b10 |
C |
T |
7: 25,915,411 |
T281M |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,234,137 |
D6G |
possibly damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,225,285 |
Q118R |
possibly damaging |
Het |
| Nipsnap3b |
G |
T |
4: 53,015,166 |
G71V |
probably damaging |
Het |
| Olfr623 |
G |
A |
7: 103,660,441 |
P270S |
probably benign |
Het |
| Olfr648 |
A |
G |
7: 104,179,416 |
|
probably null |
Het |
| Syt6 |
A |
T |
3: 103,585,340 |
|
probably null |
Het |
| Tas1r2 |
G |
A |
4: 139,655,288 |
R79Q |
probably damaging |
Het |
| Ttc7 |
C |
T |
17: 87,340,936 |
T521I |
probably benign |
Het |
|
| Other mutations in Snx25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Snx25
|
APN |
8 |
46038476 |
missense |
probably damaging |
1.00 |
|
IGL01432:Snx25
|
APN |
8 |
46105160 |
missense |
probably damaging |
0.96 |
|
IGL01600:Snx25
|
APN |
8 |
46116310 |
missense |
probably benign |
0.00 |
|
IGL02150:Snx25
|
APN |
8 |
46116281 |
missense |
possibly damaging |
0.89 |
|
IGL02386:Snx25
|
APN |
8 |
46041349 |
missense |
possibly damaging |
0.93 |
|
IGL02691:Snx25
|
APN |
8 |
46105265 |
missense |
possibly damaging |
0.88 |
|
IGL03338:Snx25
|
APN |
8 |
46045210 |
missense |
probably benign |
0.04 |
|
IGL03377:Snx25
|
APN |
8 |
46080301 |
unclassified |
probably benign |
|
|
duo
|
UTSW |
8 |
46124082 |
start codon destroyed |
probably null |
0.88 |
|
R0047:Snx25
|
UTSW |
8 |
46041365 |
missense |
probably damaging |
0.99 |
|
R0047:Snx25
|
UTSW |
8 |
46041365 |
missense |
probably damaging |
0.99 |
|
R0048:Snx25
|
UTSW |
8 |
46105109 |
splice site |
probably benign |
|
|
R0048:Snx25
|
UTSW |
8 |
46105109 |
splice site |
probably benign |
|
|
R0056:Snx25
|
UTSW |
8 |
46038513 |
missense |
probably damaging |
1.00 |
|
R0546:Snx25
|
UTSW |
8 |
46103630 |
missense |
probably benign |
0.00 |
|
R0791:Snx25
|
UTSW |
8 |
46124082 |
start codon destroyed |
probably null |
0.88 |
|
R1165:Snx25
|
UTSW |
8 |
46035715 |
missense |
probably damaging |
0.99 |
|
R1255:Snx25
|
UTSW |
8 |
46116238 |
missense |
probably benign |
0.13 |
|
R1522:Snx25
|
UTSW |
8 |
46124082 |
start codon destroyed |
probably null |
0.88 |
|
R1652:Snx25
|
UTSW |
8 |
46049473 |
missense |
probably damaging |
0.99 |
|
R1710:Snx25
|
UTSW |
8 |
46116207 |
missense |
possibly damaging |
0.69 |
|
R1829:Snx25
|
UTSW |
8 |
46035632 |
missense |
possibly damaging |
0.82 |
|
R2090:Snx25
|
UTSW |
8 |
46056113 |
missense |
probably damaging |
1.00 |
|
R2158:Snx25
|
UTSW |
8 |
46041407 |
missense |
probably damaging |
1.00 |
|
R2906:Snx25
|
UTSW |
8 |
46049523 |
splice site |
probably null |
|
|
R4244:Snx25
|
UTSW |
8 |
46105254 |
missense |
probably damaging |
0.98 |
|
R4394:Snx25
|
UTSW |
8 |
46035678 |
missense |
probably damaging |
1.00 |
|
R4465:Snx25
|
UTSW |
8 |
46068229 |
missense |
possibly damaging |
0.78 |
|
R4586:Snx25
|
UTSW |
8 |
46116437 |
intron |
probably benign |
|
|
R4663:Snx25
|
UTSW |
8 |
46035579 |
missense |
probably damaging |
1.00 |
|
R4961:Snx25
|
UTSW |
8 |
46068192 |
missense |
probably damaging |
0.99 |
|
R5104:Snx25
|
UTSW |
8 |
46068166 |
makesense |
probably null |
|
|
R5634:Snx25
|
UTSW |
8 |
46041391 |
missense |
possibly damaging |
0.94 |
|
R6128:Snx25
|
UTSW |
8 |
46105203 |
missense |
probably benign |
0.01 |
|
R6344:Snx25
|
UTSW |
8 |
46035638 |
nonsense |
probably null |
|
|
R6382:Snx25
|
UTSW |
8 |
46055991 |
missense |
probably benign |
|
|
R6523:Snx25
|
UTSW |
8 |
46055855 |
missense |
probably damaging |
0.96 |
|
R6798:Snx25
|
UTSW |
8 |
46033773 |
missense |
probably damaging |
0.98 |
|
R7143:Snx25
|
UTSW |
8 |
46035715 |
missense |
possibly damaging |
0.92 |
|
R7147:Snx25
|
UTSW |
8 |
46105196 |
missense |
probably damaging |
0.98 |
|
R7519:Snx25
|
UTSW |
8 |
46116272 |
missense |
probably damaging |
1.00 |
|
R7723:Snx25
|
UTSW |
8 |
46038479 |
missense |
probably damaging |
1.00 |
|
R9084:Snx25
|
UTSW |
8 |
46068166 |
makesense |
probably null |
|
|
RF002:Snx25
|
UTSW |
8 |
46116181 |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGAGCATTGTACGTAAGCTGAGA -3'
(R):5'- ACGGACGACATCATACATTCACATTCAC -3'
Sequencing Primer
(F):5'- CATTGTACGTAAGCTGAGAGACTG -3'
(R):5'- accatagcatcagtaatagtgtcag -3'
|
| Posted On |
2014-01-29 |
