Incidental Mutation 'R3864:Scfd2'
ID |
276454 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scfd2
|
Ensembl Gene |
ENSMUSG00000062110 |
Gene Name |
Sec1 family domain containing 2 |
Synonyms |
E430013M20Rik, STXBP1L1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R3864 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
74365477-74692420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 74558381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 499
(K499Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109170
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072857]
[ENSMUST00000113542]
[ENSMUST00000148994]
|
AlphaFold |
Q8BTY8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072857
AA Change: K499Q
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000072636 Gene: ENSMUSG00000062110 AA Change: K499Q
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
25 |
668 |
1.4e-15 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113542
AA Change: K499Q
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000109170 Gene: ENSMUSG00000062110 AA Change: K499Q
Domain | Start | End | E-Value | Type |
low complexity region
|
471 |
479 |
N/A |
INTRINSIC |
low complexity region
|
506 |
516 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148994
AA Change: K7Q
|
SMART Domains |
Protein: ENSMUSP00000144640 Gene: ENSMUSG00000062110 AA Change: K7Q
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
G |
A |
11: 116,487,642 (GRCm39) |
G114S |
probably damaging |
Het |
Abcc4 |
G |
A |
14: 118,853,827 (GRCm39) |
A360V |
probably benign |
Het |
Catsper1 |
T |
C |
19: 5,386,204 (GRCm39) |
S146P |
possibly damaging |
Het |
Ccny |
A |
T |
18: 9,449,604 (GRCm39) |
L23Q |
probably damaging |
Het |
Chml |
A |
T |
1: 175,515,810 (GRCm39) |
V37D |
probably damaging |
Het |
Cspg4b |
A |
G |
13: 113,459,485 (GRCm39) |
T1339A |
possibly damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,044,522 (GRCm39) |
I825M |
possibly damaging |
Het |
Dhx40 |
A |
T |
11: 86,680,071 (GRCm39) |
V422E |
possibly damaging |
Het |
Evi2 |
T |
A |
11: 79,406,472 (GRCm39) |
I368F |
probably benign |
Het |
Gm10309 |
A |
C |
17: 86,806,421 (GRCm39) |
|
probably benign |
Het |
Greb1 |
G |
A |
12: 16,752,421 (GRCm39) |
R974W |
probably damaging |
Het |
Grhl1 |
T |
C |
12: 24,665,929 (GRCm39) |
*619Q |
probably null |
Het |
Ighv1-7 |
A |
G |
12: 114,502,266 (GRCm39) |
I67T |
probably damaging |
Het |
Lats1 |
T |
C |
10: 7,581,510 (GRCm39) |
V765A |
probably damaging |
Het |
Lrrd1 |
G |
A |
5: 3,901,248 (GRCm39) |
V518I |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Marchf11 |
C |
T |
15: 26,387,952 (GRCm39) |
A269V |
probably damaging |
Het |
Mep1b |
A |
G |
18: 21,217,226 (GRCm39) |
N115S |
possibly damaging |
Het |
Mfn1 |
A |
G |
3: 32,617,241 (GRCm39) |
D41G |
possibly damaging |
Het |
Naa25 |
T |
A |
5: 121,547,260 (GRCm39) |
M132K |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Pcdhb3 |
A |
G |
18: 37,436,329 (GRCm39) |
E765G |
probably damaging |
Het |
Tbc1d2 |
T |
C |
4: 46,620,484 (GRCm39) |
D442G |
probably benign |
Het |
Wwc1 |
T |
A |
11: 35,801,143 (GRCm39) |
D98V |
probably damaging |
Het |
Zfp426 |
G |
A |
9: 20,381,382 (GRCm39) |
T521I |
possibly damaging |
Het |
|
Other mutations in Scfd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00970:Scfd2
|
APN |
5 |
74,691,595 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01094:Scfd2
|
APN |
5 |
74,691,707 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02928:Scfd2
|
APN |
5 |
74,691,832 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03365:Scfd2
|
APN |
5 |
74,691,596 (GRCm39) |
missense |
possibly damaging |
0.67 |
BB009:Scfd2
|
UTSW |
5 |
74,692,211 (GRCm39) |
missense |
probably benign |
0.33 |
BB019:Scfd2
|
UTSW |
5 |
74,692,211 (GRCm39) |
missense |
probably benign |
0.33 |
P0035:Scfd2
|
UTSW |
5 |
74,385,980 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1696:Scfd2
|
UTSW |
5 |
74,691,539 (GRCm39) |
missense |
probably benign |
|
R1857:Scfd2
|
UTSW |
5 |
74,372,962 (GRCm39) |
nonsense |
probably null |
|
R2136:Scfd2
|
UTSW |
5 |
74,367,028 (GRCm39) |
missense |
probably benign |
0.01 |
R2205:Scfd2
|
UTSW |
5 |
74,386,028 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2504:Scfd2
|
UTSW |
5 |
74,691,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R4439:Scfd2
|
UTSW |
5 |
74,558,368 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4590:Scfd2
|
UTSW |
5 |
74,372,917 (GRCm39) |
missense |
probably benign |
0.01 |
R4703:Scfd2
|
UTSW |
5 |
74,680,256 (GRCm39) |
missense |
probably benign |
0.00 |
R4901:Scfd2
|
UTSW |
5 |
74,680,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R4916:Scfd2
|
UTSW |
5 |
74,623,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R4970:Scfd2
|
UTSW |
5 |
74,366,982 (GRCm39) |
missense |
probably benign |
0.15 |
R5112:Scfd2
|
UTSW |
5 |
74,366,982 (GRCm39) |
missense |
probably benign |
0.15 |
R5474:Scfd2
|
UTSW |
5 |
74,692,025 (GRCm39) |
missense |
probably benign |
0.24 |
R5706:Scfd2
|
UTSW |
5 |
74,367,059 (GRCm39) |
splice site |
probably null |
|
R5766:Scfd2
|
UTSW |
5 |
74,623,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R6769:Scfd2
|
UTSW |
5 |
74,692,117 (GRCm39) |
missense |
probably benign |
0.01 |
R6771:Scfd2
|
UTSW |
5 |
74,692,117 (GRCm39) |
missense |
probably benign |
0.01 |
R6961:Scfd2
|
UTSW |
5 |
74,680,202 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6963:Scfd2
|
UTSW |
5 |
74,642,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R7151:Scfd2
|
UTSW |
5 |
74,558,326 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7159:Scfd2
|
UTSW |
5 |
74,692,004 (GRCm39) |
missense |
probably benign |
0.01 |
R7510:Scfd2
|
UTSW |
5 |
74,372,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R7602:Scfd2
|
UTSW |
5 |
74,623,271 (GRCm39) |
missense |
probably benign |
0.32 |
R7678:Scfd2
|
UTSW |
5 |
74,619,297 (GRCm39) |
missense |
probably benign |
|
R7932:Scfd2
|
UTSW |
5 |
74,692,211 (GRCm39) |
missense |
probably benign |
0.33 |
R8074:Scfd2
|
UTSW |
5 |
74,680,257 (GRCm39) |
missense |
probably benign |
0.00 |
R8088:Scfd2
|
UTSW |
5 |
74,692,024 (GRCm39) |
missense |
probably benign |
0.12 |
R8511:Scfd2
|
UTSW |
5 |
74,372,949 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8725:Scfd2
|
UTSW |
5 |
74,642,900 (GRCm39) |
missense |
probably benign |
0.01 |
R8837:Scfd2
|
UTSW |
5 |
74,691,656 (GRCm39) |
missense |
probably benign |
0.19 |
R9015:Scfd2
|
UTSW |
5 |
74,691,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R9055:Scfd2
|
UTSW |
5 |
74,691,931 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9336:Scfd2
|
UTSW |
5 |
74,692,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R9489:Scfd2
|
UTSW |
5 |
74,680,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R9691:Scfd2
|
UTSW |
5 |
74,691,611 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9719:Scfd2
|
UTSW |
5 |
74,386,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAAGGCTTTGACACCAG -3'
(R):5'- CCTTGGGGATTCAACCATGG -3'
Sequencing Primer
(F):5'- GGCTTTGACACCAGCAACTATG -3'
(R):5'- CCATGGCTGGTGTGCTAAATCAG -3'
|
Posted On |
2015-04-06 |