Incidental Mutation 'R3416:Susd5'
| ID |
266807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Susd5
|
| Ensembl Gene |
ENSMUSG00000086596 |
| Gene Name |
sushi domain containing 5 |
| Synonyms |
LOC382111 |
| MMRRC Submission |
040634-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R3416 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
113886422-113927801 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113924726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 203
(D203G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135338]
|
| AlphaFold |
G3UW60 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135338
AA Change: D203G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128826
Gene: ENSMUSG00000086596
AA Change: D203G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
LINK
|
33 |
130 |
7.42e-26 |
SMART |
|
CCP
|
136 |
193 |
9.65e-1 |
SMART |
|
low complexity region
|
416 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
496 |
N/A |
INTRINSIC |
|
transmembrane domain
|
566 |
588 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3721 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500009L16Rik |
T |
C |
10: 83,595,496 (GRCm39) |
|
probably null |
Het |
| Abi1 |
T |
C |
2: 22,930,014 (GRCm39) |
S22G |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,564,965 (GRCm39) |
Y201C |
probably damaging |
Het |
| Adnp2 |
T |
C |
18: 80,171,373 (GRCm39) |
E1012G |
possibly damaging |
Het |
| Azin1 |
A |
T |
15: 38,493,790 (GRCm39) |
S278T |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,417,325 (GRCm39) |
L142P |
probably damaging |
Het |
| Cyp4f39 |
T |
C |
17: 32,708,716 (GRCm39) |
V421A |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,265,417 (GRCm39) |
Q510R |
possibly damaging |
Het |
| Gfra1 |
T |
C |
19: 58,255,544 (GRCm39) |
Y301C |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mycs |
C |
T |
X: 5,380,810 (GRCm39) |
S90N |
possibly damaging |
Het |
| Or5p80 |
G |
A |
7: 108,229,225 (GRCm39) |
V9I |
possibly damaging |
Het |
| Pcdha8 |
A |
T |
18: 37,125,683 (GRCm39) |
Q55L |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,760 (GRCm39) |
T2756A |
probably damaging |
Het |
| Prl8a8 |
A |
T |
13: 27,695,532 (GRCm39) |
C71S |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,398 (GRCm39) |
|
probably benign |
Het |
| Rtl4 |
C |
T |
X: 143,902,901 (GRCm39) |
Q108* |
probably null |
Het |
| Scn4a |
A |
T |
11: 106,221,239 (GRCm39) |
S807T |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Smg1 |
G |
C |
7: 117,748,076 (GRCm39) |
|
probably benign |
Het |
| Spata1 |
A |
T |
3: 146,193,263 (GRCm39) |
|
probably benign |
Het |
| Strbp |
C |
G |
2: 37,480,737 (GRCm39) |
R610T |
possibly damaging |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tgm3 |
G |
A |
2: 129,889,692 (GRCm39) |
V629M |
possibly damaging |
Het |
| Tha1 |
T |
C |
11: 117,764,026 (GRCm39) |
D67G |
possibly damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,816,241 (GRCm39) |
I705F |
possibly damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zan |
T |
A |
5: 137,433,982 (GRCm39) |
E2250D |
unknown |
Het |
| Zfp560 |
A |
T |
9: 20,258,974 (GRCm39) |
Y629* |
probably null |
Het |
| Zftraf1 |
A |
T |
15: 76,542,915 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Susd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01514:Susd5
|
APN |
9 |
113,897,947 (GRCm39) |
splice site |
probably benign |
|
|
IGL01720:Susd5
|
APN |
9 |
113,893,052 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02739:Susd5
|
APN |
9 |
113,925,101 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
H8441:Susd5
|
UTSW |
9 |
113,925,253 (GRCm39) |
nonsense |
probably null |
|
|
R0238:Susd5
|
UTSW |
9 |
113,925,977 (GRCm39) |
makesense |
probably null |
|
|
R0238:Susd5
|
UTSW |
9 |
113,925,977 (GRCm39) |
makesense |
probably null |
|
|
R0650:Susd5
|
UTSW |
9 |
113,911,603 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0666:Susd5
|
UTSW |
9 |
113,924,852 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1478:Susd5
|
UTSW |
9 |
113,925,752 (GRCm39) |
missense |
probably benign |
|
|
R1672:Susd5
|
UTSW |
9 |
113,897,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3965:Susd5
|
UTSW |
9 |
113,925,260 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4182:Susd5
|
UTSW |
9 |
113,925,053 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4514:Susd5
|
UTSW |
9 |
113,924,992 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5373:Susd5
|
UTSW |
9 |
113,911,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5947:Susd5
|
UTSW |
9 |
113,886,659 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6189:Susd5
|
UTSW |
9 |
113,924,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6349:Susd5
|
UTSW |
9 |
113,924,870 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7535:Susd5
|
UTSW |
9 |
113,893,108 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8973:Susd5
|
UTSW |
9 |
113,911,572 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9143:Susd5
|
UTSW |
9 |
113,924,879 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9145:Susd5
|
UTSW |
9 |
113,925,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Susd5
|
UTSW |
9 |
113,925,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Susd5
|
UTSW |
9 |
113,893,135 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGTGTACATTCTTCAGGG -3'
(R):5'- GAAACCAGAGGGAGTACTTCC -3'
Sequencing Primer
(F):5'- GGTGACTATGATTCCCAAGTGAC -3'
(R):5'- GGCACAAAGGCTTTTACCTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation