Incidental Mutation 'R6715:Susd4'
| ID |
529279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Susd4
|
| Ensembl Gene |
ENSMUSG00000038576 |
| Gene Name |
sushi domain containing 4 |
| Synonyms |
E430021N18Rik |
| MMRRC Submission |
044833-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.480)
|
| Stock # |
R6715 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
182591609-182724161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 182719602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 406
(V406M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085724]
[ENSMUST00000153348]
|
| AlphaFold |
Q8BH32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085724
AA Change: V406M
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000082873
Gene: ENSMUSG00000038576
AA Change: V406M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
|
CCP
|
57 |
117 |
4.59e-10 |
SMART |
|
CCP
|
122 |
177 |
2.58e-4 |
SMART |
|
CCP
|
180 |
237 |
1.06e-14 |
SMART |
|
CCP
|
243 |
302 |
1.3e-9 |
SMART |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153348
AA Change: V406M
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119488
Gene: ENSMUSG00000038576
AA Change: V406M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
|
CCP
|
57 |
117 |
4.59e-10 |
SMART |
|
CCP
|
122 |
177 |
2.58e-4 |
SMART |
|
CCP
|
180 |
237 |
1.06e-14 |
SMART |
|
CCP
|
243 |
302 |
1.3e-9 |
SMART |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
374 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
G |
A |
12: 88,425,850 (GRCm39) |
R426H |
probably damaging |
Het |
| Arl2 |
G |
A |
19: 6,187,555 (GRCm39) |
R98C |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,442,948 (GRCm39) |
I105T |
probably damaging |
Het |
| Cnnm2 |
G |
A |
19: 46,842,412 (GRCm39) |
G565E |
probably damaging |
Het |
| Ddx60 |
G |
A |
8: 62,436,924 (GRCm39) |
G958D |
probably benign |
Het |
| Fbxo2 |
T |
A |
4: 148,250,226 (GRCm39) |
M252K |
probably benign |
Het |
| Filip1 |
C |
A |
9: 79,726,040 (GRCm39) |
A860S |
probably benign |
Het |
| Gm11992 |
C |
A |
11: 9,011,214 (GRCm39) |
S218R |
probably damaging |
Het |
| Gnb3 |
A |
G |
6: 124,814,691 (GRCm39) |
L69P |
possibly damaging |
Het |
| Gpr18 |
T |
G |
14: 122,149,389 (GRCm39) |
H212P |
possibly damaging |
Het |
| Iqcb1 |
T |
C |
16: 36,655,991 (GRCm39) |
F126S |
probably damaging |
Het |
| Katnip |
C |
T |
7: 125,361,001 (GRCm39) |
Q104* |
probably null |
Het |
| Kcnh1 |
A |
G |
1: 192,019,949 (GRCm39) |
D425G |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,799 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
C |
T |
10: 76,325,366 (GRCm39) |
T989M |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,623,004 (GRCm39) |
C1999R |
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Myof |
A |
T |
19: 37,956,794 (GRCm39) |
D508E |
probably benign |
Het |
| Or52b2 |
A |
T |
7: 104,986,539 (GRCm39) |
I128N |
probably damaging |
Het |
| Or56b2j |
G |
A |
7: 104,353,163 (GRCm39) |
V130M |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
| Osbpl7 |
A |
G |
11: 96,945,425 (GRCm39) |
H266R |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,666,424 (GRCm39) |
Y93C |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,965,000 (GRCm39) |
H881R |
possibly damaging |
Het |
| Rfx1 |
A |
G |
8: 84,822,444 (GRCm39) |
E914G |
possibly damaging |
Het |
| Samm50 |
T |
C |
15: 84,095,259 (GRCm39) |
I415T |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,575,985 (GRCm39) |
D434G |
possibly damaging |
Het |
| Syt15 |
G |
T |
14: 33,944,819 (GRCm39) |
G122V |
probably damaging |
Het |
| Tlr5 |
A |
G |
1: 182,800,224 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,721,556 (GRCm39) |
|
probably null |
Het |
| Vmn1r211 |
C |
A |
13: 23,035,949 (GRCm39) |
M239I |
probably benign |
Het |
| Vps37a |
G |
T |
8: 40,993,902 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Susd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Susd4
|
APN |
1 |
182,719,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01618:Susd4
|
APN |
1 |
182,686,026 (GRCm39) |
splice site |
probably null |
|
|
IGL02505:Susd4
|
APN |
1 |
182,719,645 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0315:Susd4
|
UTSW |
1 |
182,686,077 (GRCm39) |
missense |
probably benign |
|
|
R1668:Susd4
|
UTSW |
1 |
182,686,128 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1704:Susd4
|
UTSW |
1 |
182,681,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Susd4
|
UTSW |
1 |
182,681,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Susd4
|
UTSW |
1 |
182,719,759 (GRCm39) |
missense |
probably benign |
|
|
R3912:Susd4
|
UTSW |
1 |
182,715,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Susd4
|
UTSW |
1 |
182,686,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Susd4
|
UTSW |
1 |
182,719,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5256:Susd4
|
UTSW |
1 |
182,719,824 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5279:Susd4
|
UTSW |
1 |
182,715,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5598:Susd4
|
UTSW |
1 |
182,719,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7023:Susd4
|
UTSW |
1 |
182,592,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7056:Susd4
|
UTSW |
1 |
182,660,721 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7788:Susd4
|
UTSW |
1 |
182,722,767 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7832:Susd4
|
UTSW |
1 |
182,686,070 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8075:Susd4
|
UTSW |
1 |
182,592,748 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8683:Susd4
|
UTSW |
1 |
182,719,832 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9039:Susd4
|
UTSW |
1 |
182,681,597 (GRCm39) |
missense |
probably benign |
|
|
R9267:Susd4
|
UTSW |
1 |
182,716,389 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9437:Susd4
|
UTSW |
1 |
182,681,697 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9474:Susd4
|
UTSW |
1 |
182,719,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9687:Susd4
|
UTSW |
1 |
182,722,762 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGTTCCCTTTGCACAGG -3'
(R):5'- CATCTGCAATGTCGATGCCC -3'
Sequencing Primer
(F):5'- TTTGCACAGGGGTCCTCC -3'
(R):5'- CCTGCTGTGCTTGAAATCG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation