Incidental Mutation 'IGL02928:Scfd2'
| ID |
363966 |
| 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 # |
IGL02928
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
74365477-74692420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74691832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 150
(T150M)
|
| 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 |
probably damaging
Transcript: ENSMUST00000072857
AA Change: T150M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072636
Gene: ENSMUSG00000062110
AA Change: T150M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
25 |
668 |
1.4e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075848
AA Change: T150M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075245
Gene: ENSMUSG00000062110
AA Change: T150M
| 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 |
probably damaging
Transcript: ENSMUST00000113542
AA Change: T150M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109170
Gene: ENSMUSG00000062110
AA Change: T150M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
471 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151474
AA Change: T150M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121098
Gene: ENSMUSG00000062110
AA Change: T150M
| 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: ENSMUST00000123203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200979
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135377
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,980,327 (GRCm39) |
Y92C |
probably damaging |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,802 (GRCm39) |
L407F |
possibly damaging |
Het |
| Abcc3 |
G |
T |
11: 94,252,132 (GRCm39) |
T817K |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 77,977,539 (GRCm39) |
|
probably benign |
Het |
| Arhgef16 |
G |
T |
4: 154,367,350 (GRCm39) |
Q352K |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,065,716 (GRCm39) |
I68V |
probably benign |
Het |
| Col5a2 |
G |
A |
1: 45,424,180 (GRCm39) |
A1082V |
probably benign |
Het |
| Col6a1 |
A |
T |
10: 76,545,500 (GRCm39) |
Y991N |
possibly damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,129,798 (GRCm39) |
I1021T |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,303,168 (GRCm39) |
|
probably null |
Het |
| Ern1 |
A |
G |
11: 106,296,705 (GRCm39) |
|
probably benign |
Het |
| Fgf18 |
A |
T |
11: 33,074,674 (GRCm39) |
I99N |
possibly damaging |
Het |
| Glp1r |
A |
G |
17: 31,137,911 (GRCm39) |
D114G |
probably benign |
Het |
| Gm10553 |
A |
G |
1: 85,077,933 (GRCm39) |
K17E |
possibly damaging |
Het |
| Gm5422 |
T |
A |
10: 31,126,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
A |
C |
4: 155,637,863 (GRCm39) |
T196P |
probably benign |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,412 (GRCm39) |
D35V |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,517,711 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
A |
T |
13: 107,025,863 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,659,715 (GRCm39) |
Q307L |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,368,242 (GRCm39) |
*464L |
probably null |
Het |
| Mrps7 |
C |
T |
11: 115,495,910 (GRCm39) |
Q113* |
probably null |
Het |
| Npat |
A |
C |
9: 53,478,138 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
A |
G |
1: 62,854,605 (GRCm39) |
I852V |
probably damaging |
Het |
| Or10ak14 |
A |
G |
4: 118,611,697 (GRCm39) |
F15L |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,506,273 (GRCm39) |
E232G |
probably benign |
Het |
| P2rx6 |
T |
A |
16: 17,382,901 (GRCm39) |
|
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,548,346 (GRCm39) |
N466K |
possibly damaging |
Het |
| Prss12 |
A |
T |
3: 123,280,805 (GRCm39) |
N497Y |
possibly damaging |
Het |
| Psg22 |
T |
C |
7: 18,453,458 (GRCm39) |
V51A |
probably damaging |
Het |
| Ptgir |
T |
C |
7: 16,642,923 (GRCm39) |
S175P |
possibly damaging |
Het |
| Rd3l |
T |
C |
12: 111,946,012 (GRCm39) |
S156G |
probably benign |
Het |
| Reck |
C |
T |
4: 43,912,078 (GRCm39) |
H196Y |
possibly damaging |
Het |
| Rft1 |
T |
A |
14: 30,385,072 (GRCm39) |
V165D |
possibly damaging |
Het |
| Rin2 |
A |
G |
2: 145,701,926 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
A |
G |
1: 74,168,241 (GRCm39) |
|
probably benign |
Het |
| Sgca |
A |
G |
11: 94,863,129 (GRCm39) |
W75R |
probably damaging |
Het |
| Sirt7 |
A |
T |
11: 120,511,042 (GRCm39) |
D318E |
probably benign |
Het |
| Smr2l |
A |
T |
5: 88,424,976 (GRCm39) |
I14L |
probably benign |
Het |
| Snta1 |
C |
T |
2: 154,222,959 (GRCm39) |
A255T |
probably benign |
Het |
| Stxbp2 |
A |
G |
8: 3,691,736 (GRCm39) |
D485G |
probably damaging |
Het |
| Sycp1 |
T |
A |
3: 102,726,134 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,917,997 (GRCm39) |
V1922A |
possibly damaging |
Het |
| Ttc7b |
A |
T |
12: 100,369,674 (GRCm39) |
V365D |
probably damaging |
Het |
| Upk3b |
A |
G |
5: 136,067,995 (GRCm39) |
E62G |
probably benign |
Het |
| Wdr36 |
T |
C |
18: 32,980,372 (GRCm39) |
|
probably null |
Het |
| Yars2 |
T |
C |
16: 16,121,410 (GRCm39) |
F188S |
probably 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 |
|
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 |
2015-12-18 |
Incidental Mutation