Incidental Mutation 'R9084:Snx25'
| ID |
690462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx25
|
| Ensembl Gene |
ENSMUSG00000038291 |
| Gene Name |
sorting nexin 25 |
| Synonyms |
LOC382008, SBBI31 |
| MMRRC Submission |
068903-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9084 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
46486298-46605196 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 46521203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 143
(*143W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041582]
[ENSMUST00000110377]
[ENSMUST00000110378]
[ENSMUST00000170416]
|
| AlphaFold |
Q3ZT31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041582
AA Change: T248A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291
AA Change: T248A
| 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: *143W
|
| SMART Domains |
Protein: ENSMUSP00000106006
Gene: ENSMUSG00000038291
AA Change: *143W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PXA
|
1 |
138 |
5.8e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110378
AA Change: T394A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291
AA Change: T394A
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170416
AA Change: T248A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291
AA Change: T248A
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,892,016 (GRCm39) |
K93E |
probably damaging |
Het |
| Adam21 |
T |
C |
12: 81,606,160 (GRCm39) |
Y534C |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,763,186 (GRCm39) |
T125A |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,786,879 (GRCm39) |
V981A |
probably benign |
Het |
| Ankrd34b |
T |
A |
13: 92,575,720 (GRCm39) |
D317E |
probably benign |
Het |
| Arhgap9 |
T |
C |
10: 127,158,114 (GRCm39) |
S44P |
possibly damaging |
Het |
| Atg7 |
T |
C |
6: 114,678,896 (GRCm39) |
S370P |
probably damaging |
Het |
| Atp1b2 |
T |
C |
11: 69,492,388 (GRCm39) |
D224G |
probably damaging |
Het |
| C1qtnf6 |
T |
C |
15: 78,409,283 (GRCm39) |
Y188C |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,691,929 (GRCm39) |
D1297G |
unknown |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,138,325 (GRCm39) |
I1576V |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,735,944 (GRCm39) |
F451S |
probably damaging |
Het |
| Dusp6 |
T |
C |
10: 99,099,692 (GRCm39) |
S47P |
probably benign |
Het |
| Fam163a |
T |
A |
1: 155,955,730 (GRCm39) |
I21F |
probably damaging |
Het |
| Fer1l5 |
A |
G |
1: 36,429,619 (GRCm39) |
D457G |
probably benign |
Het |
| Fyn |
C |
T |
10: 39,402,845 (GRCm39) |
R206C |
probably damaging |
Het |
| Git2 |
G |
T |
5: 114,902,515 (GRCm39) |
H172Q |
probably damaging |
Het |
| Gm21698 |
T |
A |
5: 26,190,244 (GRCm39) |
H151L |
probably damaging |
Het |
| Gm4924 |
T |
A |
10: 82,213,953 (GRCm39) |
C584S |
unknown |
Het |
| Hspb8 |
A |
G |
5: 116,560,492 (GRCm39) |
L16P |
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,334,563 (GRCm39) |
H282R |
probably benign |
Het |
| Kcnn1 |
GTCCTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTCCTC |
8: 71,307,810 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,740,130 (GRCm39) |
D1871G |
unknown |
Het |
| Lrrk2 |
A |
T |
15: 91,634,469 (GRCm39) |
Q1411L |
|
Het |
| Med13 |
A |
G |
11: 86,191,621 (GRCm39) |
S914P |
probably damaging |
Het |
| Med15 |
T |
C |
16: 17,471,072 (GRCm39) |
H706R |
probably damaging |
Het |
| Mfsd2a |
T |
C |
4: 122,843,994 (GRCm39) |
Y325C |
probably damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,354,558 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
A |
C |
1: 13,244,653 (GRCm39) |
S682A |
probably damaging |
Het |
| Nfe2l1 |
A |
T |
11: 96,710,957 (GRCm39) |
M424K |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,652,925 (GRCm39) |
|
probably null |
Het |
| Or1f19 |
T |
G |
16: 3,410,617 (GRCm39) |
M119R |
probably damaging |
Het |
| Or4f7 |
A |
G |
2: 111,644,996 (GRCm39) |
L25P |
probably damaging |
Het |
| Or4k15b |
T |
C |
14: 50,271,916 (GRCm39) |
I315V |
probably benign |
Het |
| Or6c69c |
A |
T |
10: 129,910,941 (GRCm39) |
M221L |
probably benign |
Het |
| Or6c69c |
G |
C |
10: 129,910,969 (GRCm39) |
S230T |
probably benign |
Het |
| Or6d15 |
C |
T |
6: 116,559,232 (GRCm39) |
R225H |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,521 (GRCm39) |
V282E |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,235,826 (GRCm39) |
D1385G |
probably benign |
Het |
| Pcx |
A |
G |
19: 4,669,868 (GRCm39) |
Y846C |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,097,741 (GRCm39) |
M1082V |
probably damaging |
Het |
| Ptprm |
A |
C |
17: 67,263,948 (GRCm39) |
V433G |
possibly damaging |
Het |
| Pvr |
G |
T |
7: 19,650,937 (GRCm39) |
Q196K |
possibly damaging |
Het |
| Reck |
A |
G |
4: 43,922,809 (GRCm39) |
|
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,123,795 (GRCm39) |
D460G |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,616,724 (GRCm39) |
D3898G |
probably damaging |
Het |
| Skint8 |
A |
G |
4: 111,794,210 (GRCm39) |
H200R |
probably benign |
Het |
| Slamf1 |
A |
T |
1: 171,602,522 (GRCm39) |
D83V |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,182,959 (GRCm39) |
D167G |
probably benign |
Het |
| Sting1 |
A |
T |
18: 35,869,155 (GRCm39) |
I178N |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,289,240 (GRCm39) |
D1420V |
probably benign |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Tmem116 |
A |
G |
5: 121,627,387 (GRCm39) |
S211G |
|
Het |
| Tmprss6 |
C |
T |
15: 78,338,417 (GRCm39) |
V310M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,612,722 (GRCm39) |
I17119T |
probably damaging |
Het |
| Tubb1 |
T |
A |
2: 174,299,197 (GRCm39) |
M293K |
possibly damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Uncx |
T |
C |
5: 139,529,753 (GRCm39) |
M2T |
possibly damaging |
Het |
| Washc4 |
T |
C |
10: 83,422,499 (GRCm39) |
F943L |
possibly damaging |
Het |
| Xkr9 |
G |
A |
1: 13,742,733 (GRCm39) |
C6Y |
probably benign |
Het |
| Zfp458 |
A |
T |
13: 67,407,633 (GRCm39) |
V74E |
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 |
|
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 |
|
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'- ACACATGCCTGTAATAATACATGCC -3'
Sequencing Primer
(F):5'- GCTCACACTGTGTTTATAATAACTGG -3'
(R):5'- AGGTGCAGGCCTTTAATCAC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation