Incidental Mutation 'R2343:Susd3'
| ID |
245908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Susd3
|
| Ensembl Gene |
ENSMUSG00000021384 |
| Gene Name |
sushi domain containing 3 |
| Synonyms |
1700017I11Rik, 2810440J20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R2343 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49384166-49402182 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49392335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 107
(M107L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021816]
[ENSMUST00000058196]
[ENSMUST00000119721]
[ENSMUST00000135784]
|
| AlphaFold |
Q9D176 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021816
AA Change: M107L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021816
Gene: ENSMUSG00000021384
AA Change: M107L
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
20 |
79 |
2.11e-9 |
SMART |
|
transmembrane domain
|
95 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
231 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058196
AA Change: M119L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061423
Gene: ENSMUSG00000021384
AA Change: M119L
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
32 |
91 |
2.11e-9 |
SMART |
|
transmembrane domain
|
107 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119721
AA Change: M119L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113631
Gene: ENSMUSG00000021384
AA Change: M119L
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
32 |
91 |
2.11e-9 |
SMART |
|
transmembrane domain
|
107 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131880
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135784
AA Change: M44L
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115888
Gene: ENSMUSG00000021384
AA Change: M44L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141408
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcr |
T |
C |
10: 74,981,254 (GRCm39) |
I691T |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,643,124 (GRCm39) |
T865A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,023,745 (GRCm39) |
R1676H |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,355 (GRCm39) |
V1111A |
probably damaging |
Het |
| Eif3g |
T |
C |
9: 20,806,450 (GRCm39) |
Y213C |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 39,011,254 (GRCm39) |
S2118F |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,836,695 (GRCm39) |
S70P |
probably damaging |
Het |
| Krtap31-1 |
A |
C |
11: 99,798,847 (GRCm39) |
T17P |
possibly damaging |
Het |
| Lig1 |
A |
G |
7: 13,026,121 (GRCm39) |
|
probably null |
Het |
| Lman2l |
A |
T |
1: 36,467,190 (GRCm39) |
D269E |
possibly damaging |
Het |
| Mcc |
A |
G |
18: 44,592,864 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
C |
7: 49,248,565 (GRCm39) |
F2302L |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or13p4 |
C |
A |
4: 118,547,384 (GRCm39) |
M88I |
probably benign |
Het |
| Or4k38 |
A |
G |
2: 111,166,045 (GRCm39) |
I126T |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,074,394 (GRCm39) |
F67L |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,612,597 (GRCm39) |
V448D |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,564,604 (GRCm39) |
K160R |
probably benign |
Het |
| Spata2 |
A |
T |
2: 167,325,280 (GRCm39) |
V513E |
probably damaging |
Het |
| Tnni3k |
A |
G |
3: 154,644,466 (GRCm39) |
I564T |
probably benign |
Het |
| Zfp971 |
A |
G |
2: 177,674,787 (GRCm39) |
K129E |
possibly damaging |
Het |
|
| Other mutations in Susd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Susd3
|
APN |
13 |
49,384,614 (GRCm39) |
makesense |
probably null |
|
|
IGL03336:Susd3
|
APN |
13 |
49,392,258 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2122:Susd3
|
UTSW |
13 |
49,384,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2923:Susd3
|
UTSW |
13 |
49,401,945 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R4591:Susd3
|
UTSW |
13 |
49,384,736 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4661:Susd3
|
UTSW |
13 |
49,384,778 (GRCm39) |
splice site |
probably null |
|
|
R5006:Susd3
|
UTSW |
13 |
49,392,181 (GRCm39) |
intron |
probably benign |
|
|
R5841:Susd3
|
UTSW |
13 |
49,392,202 (GRCm39) |
intron |
probably benign |
|
|
R6285:Susd3
|
UTSW |
13 |
49,390,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6796:Susd3
|
UTSW |
13 |
49,391,041 (GRCm39) |
frame shift |
probably null |
|
|
R7193:Susd3
|
UTSW |
13 |
49,384,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Susd3
|
UTSW |
13 |
49,401,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7572:Susd3
|
UTSW |
13 |
49,384,638 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7697:Susd3
|
UTSW |
13 |
49,391,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8239:Susd3
|
UTSW |
13 |
49,384,731 (GRCm39) |
missense |
probably benign |
|
|
R8479:Susd3
|
UTSW |
13 |
49,390,952 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTCAGAATCCCAGGAAC -3'
(R):5'- CACCAGAGCCTGAATGACTTCC -3'
Sequencing Primer
(F):5'- TCCCAGGAACAACATATGCATGAGG -3'
(R):5'- TGAATGACTTCCCCCAAAATGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation