Incidental Mutation 'R4250:Snx8'
| ID |
321301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx8
|
| Ensembl Gene |
ENSMUSG00000029560 |
| Gene Name |
sorting nexin 8 |
| Synonyms |
B130023O14Rik |
| MMRRC Submission |
041066-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
140326054-140375017 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140341800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 121
(L121P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031539]
[ENSMUST00000196020]
[ENSMUST00000196130]
[ENSMUST00000196566]
[ENSMUST00000197880]
[ENSMUST00000198945]
|
| AlphaFold |
Q8CFD4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031539
AA Change: L147P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031539
Gene: ENSMUSG00000029560
AA Change: L147P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
30 |
N/A |
INTRINSIC |
|
PX
|
60 |
173 |
1.56e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195982
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196020
AA Change: L25P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142491
Gene: ENSMUSG00000029560
AA Change: L25P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
1 |
51 |
3.7e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196130
AA Change: L99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142390
Gene: ENSMUSG00000029560
AA Change: L99P
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
12 |
125 |
9.7e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196566
AA Change: L99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142556
Gene: ENSMUSG00000029560
AA Change: L99P
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
12 |
125 |
9.7e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197880
|
| SMART Domains |
Protein: ENSMUSP00000142394
Gene: ENSMUSG00000029560
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
15 |
88 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198945
AA Change: L121P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142866
Gene: ENSMUSG00000029560
AA Change: L121P
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
34 |
147 |
9.7e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.9745 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2a1d |
C |
T |
9: 88,613,706 (GRCm39) |
V23I |
probably benign |
Het |
| Birc2 |
A |
T |
9: 7,818,936 (GRCm39) |
L552M |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,021,890 (GRCm39) |
L319Q |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,564,726 (GRCm39) |
T296A |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,365,638 (GRCm39) |
I313L |
probably benign |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Ezr |
A |
T |
17: 7,022,196 (GRCm39) |
I94N |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,233,825 (GRCm39) |
I99S |
probably damaging |
Het |
| Hba-x |
T |
C |
11: 32,228,000 (GRCm39) |
Y155H |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,893,501 (GRCm39) |
V921D |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,949,035 (GRCm39) |
T796A |
probably damaging |
Het |
| Igkv8-26 |
G |
A |
6: 70,170,230 (GRCm39) |
V7I |
probably benign |
Het |
| Ikzf1 |
C |
T |
11: 11,704,166 (GRCm39) |
T194M |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,368 (GRCm39) |
M259V |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,633,857 (GRCm39) |
Y38C |
probably damaging |
Het |
| Pilra |
A |
T |
5: 137,821,814 (GRCm39) |
S274T |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,077,869 (GRCm39) |
V27A |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,559,579 (GRCm39) |
V414A |
probably benign |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Sirt1 |
T |
A |
10: 63,172,877 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
A |
G |
5: 31,195,062 (GRCm39) |
S512P |
probably benign |
Het |
| Sp7 |
T |
A |
15: 102,267,327 (GRCm39) |
T160S |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,617 (GRCm39) |
I298V |
probably benign |
Het |
| Trmt9b |
C |
A |
8: 36,979,366 (GRCm39) |
T323K |
probably benign |
Het |
| Ttc4 |
G |
A |
4: 106,522,880 (GRCm39) |
T346I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,056 (GRCm39) |
T32977A |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 19,975,685 (GRCm39) |
K114E |
possibly damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,020 (GRCm39) |
V133A |
possibly damaging |
Het |
|
| Other mutations in Snx8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01338:Snx8
|
APN |
5 |
140,343,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01394:Snx8
|
APN |
5 |
140,337,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
Dickens
|
UTSW |
5 |
140,343,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4247:Snx8
|
UTSW |
5 |
140,341,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4248:Snx8
|
UTSW |
5 |
140,341,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4249:Snx8
|
UTSW |
5 |
140,341,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4670:Snx8
|
UTSW |
5 |
140,341,713 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4982:Snx8
|
UTSW |
5 |
140,337,989 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5339:Snx8
|
UTSW |
5 |
140,343,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Snx8
|
UTSW |
5 |
140,343,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5755:Snx8
|
UTSW |
5 |
140,338,796 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5945:Snx8
|
UTSW |
5 |
140,339,235 (GRCm39) |
missense |
probably benign |
|
|
R7214:Snx8
|
UTSW |
5 |
140,346,008 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7527:Snx8
|
UTSW |
5 |
140,341,827 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7851:Snx8
|
UTSW |
5 |
140,343,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Snx8
|
UTSW |
5 |
140,343,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8444:Snx8
|
UTSW |
5 |
140,343,929 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATGATGCCCAGCCTGTG -3'
(R):5'- ATAGACCTGGCCATTCCTCC -3'
Sequencing Primer
(F):5'- CTCTAGTATGAGCTCAAACTGGG -3'
(R):5'- TCCACCCATGCATGTTTGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation