Incidental Mutation 'R4107:Stbd1'
| ID |
321422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stbd1
|
| Ensembl Gene |
ENSMUSG00000047963 |
| Gene Name |
starch binding domain 1 |
| Synonyms |
D5Ertd593e, D530019K15Rik |
| MMRRC Submission |
040986-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4107 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
92750910-92754438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92753139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 210
(R210G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050952]
[ENSMUST00000060930]
[ENSMUST00000200941]
[ENSMUST00000202332]
|
| AlphaFold |
Q8C7E7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050952
AA Change: R210G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000054322
Gene: ENSMUSG00000047963
AA Change: R210G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
CBM_2
|
243 |
334 |
2.81e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060930
|
| SMART Domains |
Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136004
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200941
|
| SMART Domains |
Protein: ENSMUSP00000144305
Gene: ENSMUSG00000047963
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202332
|
| SMART Domains |
Protein: ENSMUSP00000144467
Gene: ENSMUSG00000047963
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
68 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
| Acox3 |
T |
C |
5: 35,758,896 (GRCm39) |
F369S |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,293,720 (GRCm39) |
V504M |
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,879,628 (GRCm39) |
L480P |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cox5b-ps |
T |
C |
13: 21,685,507 (GRCm39) |
T28A |
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
| Enc1 |
C |
A |
13: 97,381,646 (GRCm39) |
A52E |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,064,670 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
T |
G |
2: 79,475,175 (GRCm39) |
L378R |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,503,918 (GRCm39) |
S3797P |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,900,661 (GRCm39) |
I253N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mta3 |
A |
G |
17: 84,070,343 (GRCm39) |
D16G |
probably benign |
Het |
| Nlrp4f |
C |
A |
13: 65,330,879 (GRCm39) |
C838F |
probably benign |
Het |
| Or5aq7 |
T |
A |
2: 86,937,999 (GRCm39) |
H244L |
probably damaging |
Het |
| Pou4f3 |
A |
G |
18: 42,528,987 (GRCm39) |
K310R |
probably damaging |
Het |
| Reln |
C |
A |
5: 22,239,582 (GRCm39) |
C895F |
probably damaging |
Het |
| Rnasel |
A |
G |
1: 153,630,542 (GRCm39) |
T353A |
probably benign |
Het |
| Rpusd4 |
T |
C |
9: 35,186,424 (GRCm39) |
L320P |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Trim68 |
G |
T |
7: 102,327,658 (GRCm39) |
H432N |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,569,485 (GRCm39) |
Q18809R |
probably damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,153 (GRCm39) |
I203T |
possibly damaging |
Het |
| Zfp407 |
T |
A |
18: 84,361,132 (GRCm39) |
T1721S |
possibly damaging |
Het |
|
| Other mutations in Stbd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02718:Stbd1
|
APN |
5 |
92,751,077 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0830:Stbd1
|
UTSW |
5 |
92,752,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1168:Stbd1
|
UTSW |
5 |
92,752,795 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2936:Stbd1
|
UTSW |
5 |
92,751,119 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5849:Stbd1
|
UTSW |
5 |
92,752,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7011:Stbd1
|
UTSW |
5 |
92,752,977 (GRCm39) |
nonsense |
probably null |
|
|
R7747:Stbd1
|
UTSW |
5 |
92,753,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Stbd1
|
UTSW |
5 |
92,753,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9356:Stbd1
|
UTSW |
5 |
92,753,277 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Z1177:Stbd1
|
UTSW |
5 |
92,750,914 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAGCCCAGGATCTCATGG -3'
(R):5'- CTCATGGTCTCCAGTCACTG -3'
Sequencing Primer
(F):5'- TCTCATGGAGGAGAATGGAGACTC -3'
(R):5'- GTCTCCAGTCACTGCAATGAACTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation