Incidental Mutation 'R5052:Scap'
| ID |
394705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scap
|
| Ensembl Gene |
ENSMUSG00000032485 |
| Gene Name |
SREBF chaperone |
| Synonyms |
|
| MMRRC Submission |
042642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5052 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110162356-110214017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110182220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 37
(I37T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098350]
[ENSMUST00000197630]
[ENSMUST00000198761]
[ENSMUST00000198976]
[ENSMUST00000199709]
|
| AlphaFold |
Q6GQT6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098350
AA Change: I37T
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
AA Change: I37T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
165 |
N/A |
INTRINSIC |
|
Pfam:Patched
|
279 |
504 |
4.7e-24 |
PFAM |
|
Pfam:Sterol-sensing
|
308 |
459 |
7.6e-54 |
PFAM |
|
transmembrane domain
|
515 |
534 |
N/A |
INTRINSIC |
|
transmembrane domain
|
711 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
751 |
N/A |
INTRINSIC |
|
WD40
|
765 |
802 |
1.79e-1 |
SMART |
|
low complexity region
|
847 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
944 |
N/A |
INTRINSIC |
|
WD40
|
953 |
990 |
9.86e1 |
SMART |
|
low complexity region
|
1050 |
1060 |
N/A |
INTRINSIC |
|
WD40
|
1062 |
1102 |
4.18e-2 |
SMART |
|
WD40
|
1105 |
1143 |
5.64e-8 |
SMART |
|
WD40
|
1147 |
1183 |
2.4e-1 |
SMART |
|
WD40
|
1186 |
1223 |
2.56e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197630
AA Change: I37T
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142919
Gene: ENSMUSG00000032485
AA Change: I37T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198761
AA Change: I37T
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198871
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198976
AA Change: I37T
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143369
Gene: ENSMUSG00000032485
AA Change: I37T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199709
AA Change: I37T
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.0847 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 94.8%
- 20x: 86.2%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased body size. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(23) : Targeted, other(1) Gene trapped(22) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,563,162 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,676,940 (GRCm39) |
T1964A |
probably damaging |
Het |
| Agbl5 |
C |
T |
5: 31,048,558 (GRCm39) |
T210I |
possibly damaging |
Het |
| Ak5 |
T |
C |
3: 152,366,204 (GRCm39) |
T66A |
probably benign |
Het |
| Aktip |
G |
A |
8: 91,856,279 (GRCm39) |
T66I |
possibly damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,344,556 (GRCm39) |
Y330C |
possibly damaging |
Het |
| Btbd19 |
T |
G |
4: 116,979,454 (GRCm39) |
K122Q |
possibly damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,403 (GRCm39) |
T150A |
probably benign |
Het |
| Celsr2 |
A |
G |
3: 108,319,674 (GRCm39) |
I1046T |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,621,117 (GRCm39) |
R20Q |
probably damaging |
Het |
| Cercam |
T |
A |
2: 29,765,639 (GRCm39) |
N260K |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,071,782 (GRCm39) |
H284L |
probably damaging |
Het |
| Chmp5 |
A |
G |
4: 40,948,608 (GRCm39) |
M1V |
probably null |
Het |
| Elp3 |
A |
T |
14: 65,815,389 (GRCm39) |
I220N |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,331,416 (GRCm39) |
T765A |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,256,019 (GRCm39) |
|
probably benign |
Het |
| Gm5866 |
T |
G |
5: 52,740,234 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
C |
A |
16: 87,746,986 (GRCm39) |
G417V |
probably benign |
Het |
| Gtpbp1 |
T |
G |
15: 79,600,170 (GRCm39) |
I399R |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,449,284 (GRCm39) |
C14R |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,316,349 (GRCm39) |
|
probably null |
Het |
| Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
| Map3k15 |
T |
C |
X: 158,771,742 (GRCm39) |
V105A |
possibly damaging |
Het |
| Mitf |
A |
G |
6: 97,987,406 (GRCm39) |
T320A |
possibly damaging |
Het |
| Ncapd3 |
T |
G |
9: 26,963,015 (GRCm39) |
L440R |
probably damaging |
Het |
| Nrxn2 |
C |
G |
19: 6,505,234 (GRCm39) |
A359G |
probably damaging |
Het |
| P2rx3 |
T |
G |
2: 84,829,368 (GRCm39) |
I371L |
probably benign |
Het |
| Pde1b |
C |
A |
15: 103,436,075 (GRCm39) |
Q493K |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,709,846 (GRCm39) |
F1503S |
probably damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,045,625 (GRCm39) |
W1283G |
probably damaging |
Het |
| Rasd2 |
T |
A |
8: 75,948,564 (GRCm39) |
D163E |
possibly damaging |
Het |
| Rgs11 |
A |
G |
17: 26,426,947 (GRCm39) |
|
probably benign |
Het |
| Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
| Slc25a54 |
A |
G |
3: 109,010,016 (GRCm39) |
I172V |
probably benign |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,336,744 (GRCm39) |
D171E |
probably damaging |
Het |
| Tmco4 |
A |
G |
4: 138,785,817 (GRCm39) |
E629G |
probably benign |
Het |
| Trav7-1 |
T |
G |
14: 52,892,765 (GRCm39) |
L106R |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Utf1 |
T |
C |
7: 139,524,814 (GRCm39) |
|
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,474,479 (GRCm39) |
N577S |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,767 (GRCm39) |
N1183D |
possibly damaging |
Het |
|
| Other mutations in Scap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00581:Scap
|
APN |
9 |
110,205,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01012:Scap
|
APN |
9 |
110,191,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01487:Scap
|
APN |
9 |
110,206,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01634:Scap
|
APN |
9 |
110,207,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01725:Scap
|
APN |
9 |
110,210,622 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01939:Scap
|
APN |
9 |
110,208,549 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02106:Scap
|
APN |
9 |
110,210,724 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02423:Scap
|
APN |
9 |
110,207,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02487:Scap
|
APN |
9 |
110,207,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02545:Scap
|
APN |
9 |
110,207,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03226:Scap
|
APN |
9 |
110,213,335 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03331:Scap
|
APN |
9 |
110,209,304 (GRCm39) |
splice site |
probably null |
|
|
3-1:Scap
|
UTSW |
9 |
110,202,036 (GRCm39) |
intron |
probably benign |
|
|
R0027:Scap
|
UTSW |
9 |
110,208,798 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0089:Scap
|
UTSW |
9 |
110,201,290 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0742:Scap
|
UTSW |
9 |
110,210,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Scap
|
UTSW |
9 |
110,213,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Scap
|
UTSW |
9 |
110,203,123 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1996:Scap
|
UTSW |
9 |
110,202,039 (GRCm39) |
intron |
probably benign |
|
|
R2114:Scap
|
UTSW |
9 |
110,210,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2189:Scap
|
UTSW |
9 |
110,206,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2233:Scap
|
UTSW |
9 |
110,210,661 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2234:Scap
|
UTSW |
9 |
110,210,661 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2656:Scap
|
UTSW |
9 |
110,203,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Scap
|
UTSW |
9 |
110,203,093 (GRCm39) |
missense |
probably benign |
|
|
R3237:Scap
|
UTSW |
9 |
110,208,650 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3276:Scap
|
UTSW |
9 |
110,203,093 (GRCm39) |
missense |
probably benign |
|
|
R3623:Scap
|
UTSW |
9 |
110,209,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3826:Scap
|
UTSW |
9 |
110,210,365 (GRCm39) |
missense |
probably benign |
|
|
R4859:Scap
|
UTSW |
9 |
110,203,410 (GRCm39) |
unclassified |
probably benign |
|
|
R4993:Scap
|
UTSW |
9 |
110,207,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Scap
|
UTSW |
9 |
110,210,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5331:Scap
|
UTSW |
9 |
110,210,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5383:Scap
|
UTSW |
9 |
110,203,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5410:Scap
|
UTSW |
9 |
110,203,250 (GRCm39) |
splice site |
probably null |
|
|
R5531:Scap
|
UTSW |
9 |
110,210,497 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5567:Scap
|
UTSW |
9 |
110,206,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5636:Scap
|
UTSW |
9 |
110,209,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5637:Scap
|
UTSW |
9 |
110,210,640 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5859:Scap
|
UTSW |
9 |
110,203,115 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5923:Scap
|
UTSW |
9 |
110,212,648 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5945:Scap
|
UTSW |
9 |
110,213,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5987:Scap
|
UTSW |
9 |
110,210,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6075:Scap
|
UTSW |
9 |
110,207,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6130:Scap
|
UTSW |
9 |
110,209,447 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6190:Scap
|
UTSW |
9 |
110,203,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6567:Scap
|
UTSW |
9 |
110,212,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Scap
|
UTSW |
9 |
110,213,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:Scap
|
UTSW |
9 |
110,201,310 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7386:Scap
|
UTSW |
9 |
110,202,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7642:Scap
|
UTSW |
9 |
110,203,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Scap
|
UTSW |
9 |
110,207,435 (GRCm39) |
splice site |
probably null |
|
|
R7898:Scap
|
UTSW |
9 |
110,213,811 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8357:Scap
|
UTSW |
9 |
110,210,354 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8457:Scap
|
UTSW |
9 |
110,210,354 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8829:Scap
|
UTSW |
9 |
110,209,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9381:Scap
|
UTSW |
9 |
110,207,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9412:Scap
|
UTSW |
9 |
110,207,673 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9783:Scap
|
UTSW |
9 |
110,202,132 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0064:Scap
|
UTSW |
9 |
110,206,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Scap
|
UTSW |
9 |
110,201,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTGTAAGTGATATCCAGCATC -3'
(R):5'- CTGCAGTGCTCAGACTCTTG -3'
Sequencing Primer
(F):5'- AAGTGATATCCAGCATCTTCCGGG -3'
(R):5'- AGTGCTCAGACTCTTGCTAGTAAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation