Incidental Mutation 'IGL00970:Scfd2'
ID |
27519 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00970
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
74365477-74692420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74691595 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 229
(H229R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121098
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072857]
[ENSMUST00000075848]
[ENSMUST00000080164]
[ENSMUST00000113534]
[ENSMUST00000113535]
[ENSMUST00000113536]
[ENSMUST00000113542]
[ENSMUST00000151474]
[ENSMUST00000120618]
|
AlphaFold |
Q8BTY8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072857
AA Change: H229R
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000072636 Gene: ENSMUSG00000062110 AA Change: H229R
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
25 |
668 |
1.4e-15 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075848
AA Change: H229R
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000075245 Gene: ENSMUSG00000062110 AA Change: H229R
Domain | Start | End | E-Value | Type |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080164
|
SMART Domains |
Protein: ENSMUSP00000079059 Gene: ENSMUSG00000029227
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
Pfam:Fip1
|
152 |
196 |
1.2e-28 |
PFAM |
low complexity region
|
296 |
357 |
N/A |
INTRINSIC |
low complexity region
|
405 |
441 |
N/A |
INTRINSIC |
low complexity region
|
453 |
507 |
N/A |
INTRINSIC |
low complexity region
|
510 |
523 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113534
|
SMART Domains |
Protein: ENSMUSP00000109162 Gene: ENSMUSG00000029227
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
Pfam:Fip1
|
152 |
196 |
1.1e-28 |
PFAM |
low complexity region
|
270 |
290 |
N/A |
INTRINSIC |
low complexity region
|
355 |
405 |
N/A |
INTRINSIC |
low complexity region
|
455 |
491 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113535
|
SMART Domains |
Protein: ENSMUSP00000109163 Gene: ENSMUSG00000029227
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
Pfam:Fip1
|
152 |
196 |
6.4e-29 |
PFAM |
low complexity region
|
296 |
346 |
N/A |
INTRINSIC |
low complexity region
|
396 |
432 |
N/A |
INTRINSIC |
low complexity region
|
444 |
498 |
N/A |
INTRINSIC |
low complexity region
|
501 |
514 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113536
|
SMART Domains |
Protein: ENSMUSP00000109164 Gene: ENSMUSG00000029227
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
Pfam:Fip1
|
152 |
196 |
1.3e-28 |
PFAM |
low complexity region
|
247 |
267 |
N/A |
INTRINSIC |
low complexity region
|
332 |
393 |
N/A |
INTRINSIC |
low complexity region
|
441 |
477 |
N/A |
INTRINSIC |
low complexity region
|
489 |
543 |
N/A |
INTRINSIC |
low complexity region
|
546 |
559 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113542
AA Change: H229R
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109170 Gene: ENSMUSG00000062110 AA Change: H229R
Domain | Start | End | E-Value | Type |
low complexity region
|
471 |
479 |
N/A |
INTRINSIC |
low complexity region
|
506 |
516 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151474
AA Change: H229R
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000121098 Gene: ENSMUSG00000062110 AA Change: H229R
Domain | Start | End | E-Value | Type |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121950
|
SMART Domains |
Protein: ENSMUSP00000113611 Gene: ENSMUSG00000029227
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
Pfam:Fip1
|
153 |
195 |
6.6e-29 |
PFAM |
low complexity region
|
270 |
290 |
N/A |
INTRINSIC |
low complexity region
|
355 |
405 |
N/A |
INTRINSIC |
low complexity region
|
455 |
491 |
N/A |
INTRINSIC |
low complexity region
|
503 |
557 |
N/A |
INTRINSIC |
low complexity region
|
560 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135377
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123203
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120618
|
SMART Domains |
Protein: ENSMUSP00000113995 Gene: ENSMUSG00000029227
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
low complexity region
|
63 |
79 |
N/A |
INTRINSIC |
Pfam:Fip1
|
137 |
181 |
2e-29 |
PFAM |
low complexity region
|
255 |
275 |
N/A |
INTRINSIC |
low complexity region
|
340 |
401 |
N/A |
INTRINSIC |
low complexity region
|
449 |
485 |
N/A |
INTRINSIC |
low complexity region
|
497 |
551 |
N/A |
INTRINSIC |
low complexity region
|
554 |
567 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,144,149 (GRCm39) |
N910K |
possibly damaging |
Het |
Atp8b5 |
A |
G |
4: 43,311,938 (GRCm39) |
T184A |
probably benign |
Het |
Cabp7 |
T |
C |
11: 4,688,931 (GRCm39) |
I180V |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,646,182 (GRCm39) |
T1752A |
probably benign |
Het |
Dgkb |
T |
C |
12: 38,240,082 (GRCm39) |
L453P |
probably damaging |
Het |
Disp2 |
A |
C |
2: 118,622,274 (GRCm39) |
D1002A |
probably damaging |
Het |
Eif3c |
G |
A |
7: 126,158,180 (GRCm39) |
P259S |
probably benign |
Het |
Eif4a3l1 |
A |
G |
6: 136,306,109 (GRCm39) |
D169G |
probably damaging |
Het |
Fam227b |
A |
T |
2: 125,968,980 (GRCm39) |
D31E |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,488,049 (GRCm39) |
V92A |
probably benign |
Het |
Fhod1 |
C |
A |
8: 106,058,734 (GRCm39) |
V745L |
possibly damaging |
Het |
Gprin3 |
T |
C |
6: 59,330,822 (GRCm39) |
E495G |
possibly damaging |
Het |
Grm5 |
T |
C |
7: 87,453,104 (GRCm39) |
I247T |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,830,812 (GRCm39) |
|
probably benign |
Het |
Hoatz |
T |
A |
9: 50,994,886 (GRCm39) |
K148* |
probably null |
Het |
Hspg2 |
C |
A |
4: 137,269,901 (GRCm39) |
Q2311K |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,222,107 (GRCm39) |
Y400C |
probably benign |
Het |
Lct |
A |
T |
1: 128,231,805 (GRCm39) |
D681E |
probably damaging |
Het |
Lgalsl |
G |
T |
11: 20,776,493 (GRCm39) |
P133Q |
probably benign |
Het |
Man2b2 |
C |
T |
5: 36,973,487 (GRCm39) |
W76* |
probably null |
Het |
Mylk4 |
T |
C |
13: 32,899,905 (GRCm39) |
E326G |
probably damaging |
Het |
Odam |
T |
G |
5: 88,034,467 (GRCm39) |
|
probably benign |
Het |
Pabpc4 |
T |
C |
4: 123,180,608 (GRCm39) |
I110T |
probably damaging |
Het |
Pcdh15 |
A |
T |
10: 74,215,172 (GRCm39) |
D47V |
probably damaging |
Het |
Plekhg4 |
C |
T |
8: 106,105,067 (GRCm39) |
R577C |
probably benign |
Het |
Pnpo |
C |
A |
11: 96,834,618 (GRCm39) |
C26F |
possibly damaging |
Het |
Polg |
T |
C |
7: 79,101,493 (GRCm39) |
I1071M |
probably benign |
Het |
Prr23a2 |
A |
G |
9: 98,739,014 (GRCm39) |
D124G |
probably benign |
Het |
Rexo1 |
C |
T |
10: 80,386,798 (GRCm39) |
V87I |
probably damaging |
Het |
Robo2 |
C |
A |
16: 73,693,934 (GRCm39) |
V1502L |
probably benign |
Het |
Ruvbl2 |
A |
G |
7: 45,078,994 (GRCm39) |
L50P |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,595,021 (GRCm39) |
K2534E |
probably damaging |
Het |
Sesn3 |
A |
G |
9: 14,232,438 (GRCm39) |
D237G |
probably damaging |
Het |
Shank1 |
T |
C |
7: 44,003,662 (GRCm39) |
S1785P |
possibly damaging |
Het |
Slc11a1 |
A |
G |
1: 74,419,821 (GRCm39) |
T165A |
probably damaging |
Het |
Star |
G |
A |
8: 26,302,894 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
T |
9: 8,653,152 (GRCm39) |
N575Y |
probably damaging |
Het |
Unc5d |
T |
C |
8: 29,186,456 (GRCm39) |
T598A |
probably benign |
Het |
Vmn1r200 |
A |
T |
13: 22,579,893 (GRCm39) |
Q232L |
probably damaging |
Het |
Wdr31 |
T |
C |
4: 62,375,757 (GRCm39) |
T233A |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,806,071 (GRCm39) |
R2669Q |
probably benign |
Het |
|
Other mutations in Scfd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R3864:Scfd2
|
UTSW |
5 |
74,558,381 (GRCm39) |
missense |
possibly damaging |
0.49 |
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 |
|
Posted On |
2013-04-17 |