Incidental Mutation 'R6961:Scfd2'
| ID |
541751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scfd2
|
| Ensembl Gene |
ENSMUSG00000062110 |
| Gene Name |
Sec1 family domain containing 2 |
| Synonyms |
E430013M20Rik, STXBP1L1 |
| MMRRC Submission |
045071-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6961 (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 C
at 74680202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 317
(V317G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072857]
[ENSMUST00000075848]
[ENSMUST00000113542]
[ENSMUST00000151474]
|
| AlphaFold |
Q8BTY8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072857
AA Change: V317G
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072636
Gene: ENSMUSG00000062110
AA Change: V317G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
25 |
668 |
1.4e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075848
AA Change: V317G
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075245
Gene: ENSMUSG00000062110
AA Change: V317G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113542
AA Change: V317G
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109170
Gene: ENSMUSG00000062110
AA Change: V317G
| 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: V317G
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121098
Gene: ENSMUSG00000062110
AA Change: V317G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.8%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,024,148 (GRCm39) |
L168P |
probably damaging |
Het |
| Atp6v0d1 |
A |
G |
8: 106,255,849 (GRCm39) |
L173P |
probably damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,168,835 (GRCm39) |
F23L |
probably damaging |
Het |
| Cd200l1 |
T |
A |
16: 45,264,366 (GRCm39) |
Y64F |
probably benign |
Het |
| Cdh23 |
G |
C |
10: 60,485,893 (GRCm39) |
L41V |
probably benign |
Het |
| Cep120 |
C |
A |
18: 53,836,277 (GRCm39) |
E803* |
probably null |
Het |
| Clcn7 |
C |
T |
17: 25,376,188 (GRCm39) |
P560S |
probably damaging |
Het |
| Cldn12 |
A |
T |
5: 5,557,707 (GRCm39) |
V240D |
probably damaging |
Het |
| Clec1a |
C |
T |
6: 129,406,946 (GRCm39) |
E190K |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,832,365 (GRCm39) |
H450Q |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,171,279 (GRCm39) |
N573K |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,838,082 (GRCm39) |
I2721F |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,748,740 (GRCm39) |
F393S |
probably damaging |
Het |
| Fut1 |
A |
T |
7: 45,268,963 (GRCm39) |
I306F |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,153 (GRCm39) |
D655G |
probably benign |
Het |
| Gm29106 |
A |
T |
1: 118,128,128 (GRCm39) |
K607* |
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,104,766 (GRCm39) |
I32F |
possibly damaging |
Het |
| Hmg20a |
T |
C |
9: 56,396,012 (GRCm39) |
V268A |
probably benign |
Het |
| Il2rb |
T |
A |
15: 78,370,024 (GRCm39) |
Y205F |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,190,397 (GRCm39) |
*965W |
probably null |
Het |
| Itsn2 |
T |
A |
12: 4,723,420 (GRCm39) |
C1118* |
probably null |
Het |
| Jakmip1 |
T |
C |
5: 37,330,697 (GRCm39) |
L459P |
probably damaging |
Het |
| Klhl8 |
T |
C |
5: 104,018,435 (GRCm39) |
T323A |
possibly damaging |
Het |
| Mindy3 |
C |
A |
2: 12,400,989 (GRCm39) |
|
probably null |
Het |
| Myo3a |
A |
G |
2: 22,250,369 (GRCm39) |
T79A |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Napa |
C |
T |
7: 15,843,034 (GRCm39) |
R53* |
probably null |
Het |
| Nudt21 |
A |
C |
8: 94,755,508 (GRCm39) |
D133E |
probably benign |
Het |
| Or2y3 |
T |
A |
17: 38,393,096 (GRCm39) |
I258F |
probably damaging |
Het |
| Or4c115 |
T |
A |
2: 88,928,149 (GRCm39) |
M41L |
probably benign |
Het |
| Or52b1 |
A |
T |
7: 104,978,913 (GRCm39) |
I162K |
probably damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,789 (GRCm39) |
V204A |
possibly damaging |
Het |
| Or56a41 |
A |
T |
7: 104,741,978 (GRCm39) |
M16K |
probably benign |
Het |
| Or6c7 |
T |
C |
10: 129,323,331 (GRCm39) |
F151L |
probably damaging |
Het |
| Pate13 |
G |
A |
9: 35,819,740 (GRCm39) |
M1I |
probably null |
Het |
| Pira13 |
T |
C |
7: 3,828,124 (GRCm39) |
Y61C |
probably damaging |
Het |
| Pla2g4e |
G |
T |
2: 120,004,851 (GRCm39) |
|
probably null |
Het |
| Ptbp1 |
T |
C |
10: 79,695,111 (GRCm39) |
|
probably null |
Het |
| Slc45a1 |
T |
C |
4: 150,714,110 (GRCm39) |
M712V |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,717,334 (GRCm39) |
L919* |
probably null |
Het |
| Sspo |
T |
A |
6: 48,440,811 (GRCm39) |
S1758T |
probably benign |
Het |
| Tgfb2 |
A |
T |
1: 186,382,032 (GRCm39) |
M165K |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,343,402 (GRCm39) |
V154M |
probably damaging |
Het |
| Timm17a |
A |
G |
1: 135,238,816 (GRCm39) |
|
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,076 (GRCm39) |
R127* |
probably null |
Het |
| Ttc29 |
A |
C |
8: 79,003,545 (GRCm39) |
I254L |
possibly damaging |
Het |
| Unc79 |
T |
C |
12: 103,079,174 (GRCm39) |
S1780P |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,646 (GRCm39) |
Y584* |
probably null |
Het |
| Zbtb24 |
A |
G |
10: 41,331,171 (GRCm39) |
E366G |
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 |
|
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 |
|
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'- CTATGTCAGATAGTAAGGGCTTTTG -3'
(R):5'- GCATCCAGTTAACATCTTAATGTCC -3'
Sequencing Primer
(F):5'- GCCTTGAACTGGCTAAGTAGC -3'
(R):5'- AATGTCCACTTTGAGTTCACATTTGC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation