Incidental Mutation 'R6963:Scfd2'
| ID |
543322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scfd2
|
| Ensembl Gene |
ENSMUSG00000062110 |
| Gene Name |
Sec1 family domain containing 2 |
| Synonyms |
E430013M20Rik, STXBP1L1 |
| MMRRC Submission |
045073-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6963 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
74365477-74692420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74642870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 359
(V359A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072857]
[ENSMUST00000075848]
[ENSMUST00000113542]
[ENSMUST00000151474]
|
| AlphaFold |
Q8BTY8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072857
AA Change: V359A
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072636
Gene: ENSMUSG00000062110
AA Change: V359A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
25 |
668 |
1.4e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075848
AA Change: V359A
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075245
Gene: ENSMUSG00000062110
AA Change: V359A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113542
AA Change: V359A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109170
Gene: ENSMUSG00000062110
AA Change: V359A
| 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: V359A
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121098
Gene: ENSMUSG00000062110
AA Change: V359A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,044,303 (GRCm39) |
H196Y |
probably damaging |
Het |
| Abi3 |
G |
A |
11: 95,723,567 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
CG |
C |
4: 129,908,155 (GRCm39) |
|
probably null |
Het |
| Asgr1 |
T |
C |
11: 69,946,794 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
C |
T |
8: 120,457,006 (GRCm39) |
R203* |
probably null |
Het |
| Brms1 |
T |
A |
19: 5,096,681 (GRCm39) |
I121N |
probably damaging |
Het |
| Ccdc149 |
G |
A |
5: 52,596,439 (GRCm39) |
R58W |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,228 (GRCm39) |
E906G |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,381,309 (GRCm39) |
T444A |
probably benign |
Het |
| Ggn |
A |
G |
7: 28,871,007 (GRCm39) |
E142G |
probably damaging |
Het |
| Gm5150 |
A |
G |
3: 16,060,555 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
A |
G |
3: 36,104,811 (GRCm39) |
Y17H |
probably benign |
Het |
| Gp2 |
A |
G |
7: 119,052,120 (GRCm39) |
V198A |
probably benign |
Het |
| Gstm3 |
A |
G |
3: 107,874,940 (GRCm39) |
V104A |
probably benign |
Het |
| Idua |
A |
G |
5: 108,827,641 (GRCm39) |
K152E |
possibly damaging |
Het |
| Igsf21 |
A |
G |
4: 139,755,041 (GRCm39) |
S443P |
probably benign |
Het |
| Kdm5d |
C |
A |
Y: 937,975 (GRCm39) |
Q925K |
probably benign |
Het |
| Ly6k |
G |
C |
15: 74,670,431 (GRCm39) |
P37R |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,424,713 (GRCm39) |
S626P |
probably damaging |
Het |
| Mcoln2 |
A |
G |
3: 145,877,790 (GRCm39) |
K137R |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,877,804 (GRCm39) |
N298S |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,734,149 (GRCm39) |
I379T |
probably benign |
Het |
| Myo15b |
G |
T |
11: 115,781,540 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
A |
G |
8: 32,407,690 (GRCm39) |
F181S |
probably benign |
Het |
| Or5b24 |
C |
T |
19: 12,913,002 (GRCm39) |
A300V |
probably damaging |
Het |
| Pals2 |
T |
C |
6: 50,140,635 (GRCm39) |
|
probably null |
Het |
| Pde9a |
G |
T |
17: 31,662,861 (GRCm39) |
V97L |
probably benign |
Het |
| Rfc5 |
T |
A |
5: 117,525,931 (GRCm39) |
|
probably null |
Het |
| Rnf145 |
T |
C |
11: 44,455,104 (GRCm39) |
S662P |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
T |
C |
15: 9,139,515 (GRCm39) |
|
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,110 (GRCm39) |
E134G |
probably damaging |
Het |
| Ttll4 |
T |
A |
1: 74,720,975 (GRCm39) |
I547K |
probably damaging |
Het |
| Vmn1r4 |
T |
C |
6: 56,933,769 (GRCm39) |
I91T |
probably damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,536,849 (GRCm39) |
S511P |
probably damaging |
Het |
| Vps50 |
T |
C |
6: 3,592,577 (GRCm39) |
|
probably null |
Het |
| Zeb2 |
T |
G |
2: 44,878,811 (GRCm39) |
E1141A |
probably damaging |
Het |
| Zfp1002 |
A |
G |
2: 150,097,265 (GRCm39) |
C55R |
probably damaging |
Het |
| Zfp326 |
T |
A |
5: 106,059,359 (GRCm39) |
Y373* |
probably null |
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 |
|
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 |
|
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'- GGGGATAACGACTGGACTGT -3'
(R):5'- GCCCATTAAATGAATTAGACACCCT -3'
Sequencing Primer
(F):5'- ATAACGACTGGACTGTAAAAACG -3'
(R):5'- CCCTGTATCAAGTTAATACTTCCCAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation