Incidental Mutation 'R9719:Scfd2'
| ID |
730662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scfd2
|
| Ensembl Gene |
ENSMUSG00000062110 |
| Gene Name |
Sec1 family domain containing 2 |
| Synonyms |
E430013M20Rik, STXBP1L1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R9719 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
74365477-74692420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74386004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 605
(L605Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072857]
[ENSMUST00000113542]
|
| AlphaFold |
Q8BTY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072857
AA Change: L605Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072636
Gene: ENSMUSG00000062110
AA Change: L605Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
25 |
668 |
1.4e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113542
AA Change: L605Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109170
Gene: ENSMUSG00000062110
AA Change: L605Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
471 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
516 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alppl2 |
T |
A |
1: 87,016,136 (GRCm39) |
Q241L |
probably benign |
Het |
| Apob |
T |
A |
12: 8,065,464 (GRCm39) |
N4144K |
probably benign |
Het |
| B4gat1 |
A |
G |
19: 5,090,516 (GRCm39) |
H413R |
probably benign |
Het |
| Ccdc179 |
T |
C |
7: 51,664,612 (GRCm39) |
T28A |
probably benign |
Het |
| Ceacam5 |
A |
C |
7: 17,491,835 (GRCm39) |
D735A |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,949,432 (GRCm39) |
D27N |
unknown |
Het |
| Colgalt1 |
A |
G |
8: 72,073,456 (GRCm39) |
E359G |
probably benign |
Het |
| Crybg2 |
T |
A |
4: 133,793,148 (GRCm39) |
I261N |
probably benign |
Het |
| Cyyr1 |
A |
T |
16: 85,219,203 (GRCm39) |
L68Q |
unknown |
Het |
| Dgkz |
T |
A |
2: 91,768,911 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,867,912 (GRCm39) |
E3947V |
unknown |
Het |
| Eif2ak2 |
C |
A |
17: 79,162,783 (GRCm39) |
D472Y |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,755,539 (GRCm39) |
T429A |
possibly damaging |
Het |
| Fen1 |
G |
A |
19: 10,178,016 (GRCm39) |
H143Y |
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,631,113 (GRCm39) |
R58S |
unknown |
Het |
| Hspa1b |
T |
C |
17: 35,176,467 (GRCm39) |
D506G |
probably damaging |
Het |
| Inhca |
G |
T |
9: 103,132,014 (GRCm39) |
P569H |
probably benign |
Het |
| Kcna7 |
A |
G |
7: 45,056,390 (GRCm39) |
D202G |
probably benign |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Mal |
C |
T |
2: 127,498,025 (GRCm39) |
S10N |
possibly damaging |
Het |
| Mgat2 |
T |
A |
12: 69,232,115 (GRCm39) |
W230R |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,436,493 (GRCm39) |
T883S |
probably benign |
Het |
| Ncaph2 |
T |
C |
15: 89,249,526 (GRCm39) |
S277P |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,916,091 (GRCm39) |
W341* |
probably null |
Het |
| Or13c7e-ps1 |
A |
C |
4: 43,781,454 (GRCm39) |
M292R |
probably damaging |
Het |
| Or1p1 |
A |
C |
11: 74,180,146 (GRCm39) |
I225L |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,368 (GRCm39) |
S65P |
probably damaging |
Het |
| Or5d46 |
T |
A |
2: 88,169,928 (GRCm39) |
N6K |
|
Het |
| Or5g26 |
T |
A |
2: 85,494,608 (GRCm39) |
I57F |
probably benign |
Het |
| Or6z1 |
C |
A |
7: 6,504,999 (GRCm39) |
M75I |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
| Ptpn14 |
T |
A |
1: 189,583,484 (GRCm39) |
M777K |
probably benign |
Het |
| Rasef |
A |
G |
4: 73,688,102 (GRCm39) |
I17T |
possibly damaging |
Het |
| Rptor |
A |
T |
11: 119,781,940 (GRCm39) |
D1089V |
probably benign |
Het |
| Scel |
A |
T |
14: 103,809,442 (GRCm39) |
|
probably null |
Het |
| Son |
A |
G |
16: 91,456,440 (GRCm39) |
E1729G |
probably damaging |
Het |
| Spata31e2 |
C |
G |
1: 26,722,820 (GRCm39) |
E787Q |
probably benign |
Het |
| Spout1 |
A |
G |
2: 30,065,813 (GRCm39) |
Y243H |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,276,601 (GRCm39) |
F1765S |
possibly damaging |
Het |
| Tet2 |
A |
T |
3: 133,191,803 (GRCm39) |
V877E |
possibly damaging |
Het |
| Txn2 |
T |
C |
15: 77,812,289 (GRCm39) |
|
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,489,331 (GRCm39) |
I293V |
possibly damaging |
Het |
| Vmn1r81 |
G |
A |
7: 11,994,449 (GRCm39) |
T53I |
probably damaging |
Het |
| Vps18 |
T |
C |
2: 119,127,553 (GRCm39) |
F792S |
probably damaging |
Het |
| Vps25 |
A |
G |
11: 101,146,853 (GRCm39) |
D91G |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,015,224 (GRCm39) |
L396F |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,111,304 (GRCm39) |
C665S |
possibly damaging |
Het |
| Zfp26 |
T |
C |
9: 20,347,861 (GRCm39) |
E901G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATAAGACTCAGGGCCAAAG -3'
(R):5'- CGGATGTCCATAAAACTGTCTCC -3'
Sequencing Primer
(F):5'- GCATACCACCAGAAAAGATTGTCTTG -3'
(R):5'- TCTCCAGACACAGCAAACGAGTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation