Incidental Mutation 'R0791:Snx25'
| ID |
82397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx25
|
| Ensembl Gene |
ENSMUSG00000038291 |
| Gene Name |
sorting nexin 25 |
| Synonyms |
LOC382008, SBBI31 |
| MMRRC Submission |
038971-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0791 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
46486298-46605196 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 46577119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041582]
[ENSMUST00000110377]
[ENSMUST00000110378]
[ENSMUST00000170416]
|
| AlphaFold |
Q3ZT31 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041582
AA Change: M1K
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291
AA Change: M1K
| 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: ENSMUST00000110377
AA Change: M1K
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106006
Gene: ENSMUSG00000038291
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PXA
|
1 |
138 |
5.8e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110378
AA Change: M147K
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291
AA Change: M147K
| 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: ENSMUST00000170416
AA Change: M1K
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291
AA Change: M1K
| 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 |
|
| Meta Mutation Damage Score |
0.8973 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
A |
19: 8,994,098 (GRCm39) |
M5127I |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,111 (GRCm39) |
Y55H |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,922,307 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
C |
T |
6: 113,750,349 (GRCm39) |
R625H |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,720,439 (GRCm39) |
V66A |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,936,046 (GRCm39) |
T950A |
possibly damaging |
Het |
| Ceacam19 |
A |
T |
7: 19,616,557 (GRCm39) |
|
probably null |
Het |
| Cenpn |
T |
A |
8: 117,667,559 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
A |
T |
8: 93,998,517 (GRCm39) |
Y160N |
possibly damaging |
Het |
| Clca3a1 |
A |
C |
3: 144,710,615 (GRCm39) |
S863A |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,045,291 (GRCm39) |
I781K |
possibly damaging |
Het |
| Dock4 |
C |
T |
12: 40,754,480 (GRCm39) |
R490W |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,118,549 (GRCm39) |
Q686L |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,738,282 (GRCm39) |
S59G |
probably benign |
Het |
| Glb1l2 |
A |
G |
9: 26,681,047 (GRCm39) |
V218A |
possibly damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,980,801 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
G |
A |
11: 115,141,472 (GRCm39) |
P882L |
probably damaging |
Het |
| H2-Ob |
C |
A |
17: 34,461,588 (GRCm39) |
T109N |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,723,225 (GRCm39) |
V64A |
possibly damaging |
Het |
| Jpt2 |
C |
A |
17: 25,167,647 (GRCm39) |
A101S |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,110,326 (GRCm39) |
Q1116H |
possibly damaging |
Het |
| Lamc1 |
T |
C |
1: 153,110,358 (GRCm39) |
S1106G |
probably benign |
Het |
| Lamc1 |
T |
G |
1: 153,110,341 (GRCm39) |
Q1111H |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,775,107 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
T |
8: 10,023,012 (GRCm39) |
V256E |
possibly damaging |
Het |
| Mpz |
C |
A |
1: 170,986,343 (GRCm39) |
Q86K |
possibly damaging |
Het |
| Mrps24 |
A |
G |
11: 5,654,684 (GRCm39) |
V90A |
possibly damaging |
Het |
| Mtdh |
A |
G |
15: 34,116,528 (GRCm39) |
|
probably benign |
Het |
| Mtor |
T |
C |
4: 148,547,367 (GRCm39) |
V450A |
probably benign |
Het |
| Mycbpap |
A |
G |
11: 94,402,449 (GRCm39) |
|
probably null |
Het |
| Myo6 |
T |
A |
9: 80,169,656 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
A |
T |
17: 71,428,131 (GRCm39) |
I1450F |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,532,634 (GRCm39) |
S1781T |
probably benign |
Het |
| Nedd1 |
T |
C |
10: 92,555,476 (GRCm39) |
E3G |
probably damaging |
Het |
| Nt5c3 |
T |
C |
6: 56,863,734 (GRCm39) |
T149A |
probably benign |
Het |
| Or5p56 |
A |
G |
7: 107,589,740 (GRCm39) |
H56R |
probably benign |
Het |
| Osbp2 |
G |
A |
11: 3,661,882 (GRCm39) |
|
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,566,854 (GRCm39) |
S54P |
possibly damaging |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Prdm14 |
G |
T |
1: 13,195,968 (GRCm39) |
A31E |
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,568,637 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,543,021 (GRCm39) |
|
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,638,197 (GRCm39) |
N103S |
possibly damaging |
Het |
| Sema3g |
T |
A |
14: 30,942,861 (GRCm39) |
|
probably benign |
Het |
| Slc30a6 |
T |
C |
17: 74,722,640 (GRCm39) |
S236P |
possibly damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,315,421 (GRCm39) |
|
probably benign |
Het |
| Synpo2 |
A |
G |
3: 122,906,835 (GRCm39) |
V827A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,942,820 (GRCm39) |
M862K |
probably benign |
Het |
| Trim42 |
A |
T |
9: 97,247,732 (GRCm39) |
H321Q |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,998,693 (GRCm39) |
|
probably benign |
Het |
| Tymp |
T |
C |
15: 89,259,021 (GRCm39) |
K221R |
probably damaging |
Het |
| Uaca |
C |
A |
9: 60,779,341 (GRCm39) |
Q1243K |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,232,016 (GRCm39) |
|
probably benign |
Het |
| Wnt4 |
C |
T |
4: 137,016,594 (GRCm39) |
R83W |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,509 (GRCm39) |
D273G |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,609,510 (GRCm39) |
Y738* |
probably null |
Het |
| Zkscan4 |
A |
C |
13: 21,668,081 (GRCm39) |
E177D |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCATCGAGTCCAATAACCCCT -3'
(R):5'- ccacacctggctCCTATGCTTTT -3'
Sequencing Primer
(F):5'- TCATGGGATCTGGAAATTCCGAC -3'
(R):5'- cacctggctCCTATGCTTTTAATTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation