Incidental Mutation 'R6769:Scfd2'
ID |
532081 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scfd2
|
Ensembl Gene |
ENSMUSG00000062110 |
Gene Name |
Sec1 family domain containing 2 |
Synonyms |
E430013M20Rik, STXBP1L1 |
MMRRC Submission |
044885-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6769 (G1)
|
Quality Score |
155.008 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
74365477-74692420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74692117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 55
(H55R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121098
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072857]
[ENSMUST00000075848]
[ENSMUST00000080164]
[ENSMUST00000113534]
[ENSMUST00000113535]
[ENSMUST00000113536]
[ENSMUST00000113542]
[ENSMUST00000120618]
[ENSMUST00000151474]
|
AlphaFold |
Q8BTY8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072857
AA Change: H55R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000072636 Gene: ENSMUSG00000062110 AA Change: H55R
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
25 |
668 |
1.4e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075848
AA Change: H55R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000075245 Gene: ENSMUSG00000062110 AA Change: H55R
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 benign
Transcript: ENSMUST00000113542
AA Change: H55R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000109170 Gene: ENSMUSG00000062110 AA Change: H55R
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 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151474
AA Change: H55R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000121098 Gene: ENSMUSG00000062110 AA Change: H55R
Domain | Start | End | E-Value | Type |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
G |
T |
8: 71,914,105 (GRCm39) |
H174Q |
probably damaging |
Het |
Alox5 |
C |
A |
6: 116,392,145 (GRCm39) |
|
probably null |
Het |
Amer3 |
C |
A |
1: 34,627,330 (GRCm39) |
A523D |
possibly damaging |
Het |
Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
Atp10b |
T |
C |
11: 43,094,079 (GRCm39) |
|
probably null |
Het |
Atp9a |
A |
T |
2: 168,516,820 (GRCm39) |
Y340N |
probably damaging |
Het |
C1rb |
T |
G |
6: 124,554,364 (GRCm39) |
S382A |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
Ctnnd1 |
C |
A |
2: 84,450,269 (GRCm39) |
R317L |
probably damaging |
Het |
Ctnnd1 |
A |
T |
2: 84,450,454 (GRCm39) |
D255E |
probably damaging |
Het |
Dipk1b |
A |
G |
2: 26,524,875 (GRCm39) |
R92G |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,323,808 (GRCm39) |
I1192N |
probably damaging |
Het |
Efcab5 |
A |
G |
11: 76,996,258 (GRCm39) |
V1101A |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Flg |
T |
C |
3: 93,195,630 (GRCm39) |
|
probably benign |
Het |
Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
Gm7361 |
T |
A |
5: 26,462,767 (GRCm39) |
L3* |
probably null |
Het |
Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
Ighv2-9 |
A |
T |
12: 113,842,930 (GRCm39) |
F46I |
possibly damaging |
Het |
Kdm4b |
C |
T |
17: 56,658,754 (GRCm39) |
A33V |
possibly damaging |
Het |
Klhl5 |
T |
A |
5: 65,321,995 (GRCm39) |
Y534N |
probably damaging |
Het |
Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
Mnat1 |
A |
G |
12: 73,319,196 (GRCm39) |
N273S |
probably benign |
Het |
Niban2 |
C |
T |
2: 32,785,666 (GRCm39) |
|
|
Het |
Nxpe3 |
C |
A |
16: 55,686,471 (GRCm39) |
G179V |
probably damaging |
Het |
Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
Prdm5 |
T |
A |
6: 65,839,920 (GRCm39) |
I265K |
probably damaging |
Het |
Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
Rassf4 |
T |
A |
6: 116,618,433 (GRCm39) |
D215V |
possibly damaging |
Het |
Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,933,445 (GRCm39) |
N1550D |
probably benign |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Slc30a5 |
A |
C |
13: 100,950,368 (GRCm39) |
S240A |
probably benign |
Het |
Slc7a4 |
A |
G |
16: 17,393,184 (GRCm39) |
V205A |
possibly damaging |
Het |
Syde2 |
G |
A |
3: 145,704,803 (GRCm39) |
G318E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,538,883 (GRCm39) |
D34649V |
possibly damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,313,856 (GRCm39) |
S155T |
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 |
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 |
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'- CGGCCGTATAGTTCTCGTTG -3'
(R):5'- TGGCGATACGGGATCATGAG -3'
Sequencing Primer
(F):5'- TCCAGCTGTTCGAACACCG -3'
(R):5'- ATACGGGATCATGAGCGCCG -3'
|
Posted On |
2018-08-29 |