Incidental Mutation 'R4030:Scube2'
| ID |
313171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scube2
|
| Ensembl Gene |
ENSMUSG00000007279 |
| Gene Name |
signal peptide, CUB domain, EGF-like 2 |
| Synonyms |
ICRFP703B1614Q5.1, Cegf1, ICRFP703N2430Q5.1, 4932442O19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R4030 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109397897-109464886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109430978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 407
(V407A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007423]
[ENSMUST00000106728]
[ENSMUST00000106729]
|
| AlphaFold |
Q9JJS0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007423
AA Change: V407A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: V407A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
EGF_CA
|
43 |
83 |
7.01e-10 |
SMART |
|
EGF_CA
|
84 |
125 |
1.79e-7 |
SMART |
|
EGF_CA
|
126 |
166 |
1.5e-9 |
SMART |
|
EGF
|
174 |
212 |
2.19e-2 |
SMART |
|
EGF
|
214 |
251 |
4.89e0 |
SMART |
|
EGF
|
283 |
320 |
5.12e-3 |
SMART |
|
EGF_CA
|
321 |
361 |
3.7e-9 |
SMART |
|
EGF_CA
|
362 |
400 |
1.85e-9 |
SMART |
|
EGF_CA
|
401 |
441 |
2.48e-10 |
SMART |
|
low complexity region
|
479 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
594 |
N/A |
INTRINSIC |
|
Pfam:GCC2_GCC3
|
642 |
692 |
7.2e-19 |
PFAM |
|
Pfam:GCC2_GCC3
|
699 |
746 |
2e-16 |
PFAM |
|
Pfam:GCC2_GCC3
|
755 |
802 |
3.1e-18 |
PFAM |
|
CUB
|
807 |
919 |
1.23e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106728
AA Change: V407A
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: V407A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
EGF_CA
|
43 |
83 |
7.01e-10 |
SMART |
|
EGF_CA
|
84 |
125 |
1.79e-7 |
SMART |
|
EGF_CA
|
126 |
166 |
1.5e-9 |
SMART |
|
EGF
|
174 |
212 |
2.19e-2 |
SMART |
|
EGF
|
214 |
251 |
4.89e0 |
SMART |
|
EGF
|
283 |
320 |
5.12e-3 |
SMART |
|
EGF_CA
|
321 |
361 |
3.7e-9 |
SMART |
|
EGF_CA
|
362 |
400 |
1.85e-9 |
SMART |
|
EGF_CA
|
401 |
441 |
2.48e-10 |
SMART |
|
low complexity region
|
451 |
468 |
N/A |
INTRINSIC |
|
Pfam:GCC2_GCC3
|
516 |
566 |
6.4e-17 |
PFAM |
|
Pfam:GCC2_GCC3
|
573 |
620 |
3.5e-14 |
PFAM |
|
Pfam:GCC2_GCC3
|
629 |
676 |
5.4e-16 |
PFAM |
|
Blast:CUB
|
678 |
727 |
2e-25 |
BLAST |
|
Blast:CUB
|
730 |
796 |
1e-37 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106729
AA Change: V407A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: V407A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
EGF_CA
|
43 |
83 |
7.01e-10 |
SMART |
|
EGF_CA
|
84 |
125 |
1.79e-7 |
SMART |
|
EGF_CA
|
126 |
166 |
1.5e-9 |
SMART |
|
EGF
|
174 |
212 |
2.19e-2 |
SMART |
|
EGF
|
214 |
251 |
4.89e0 |
SMART |
|
EGF
|
283 |
320 |
5.12e-3 |
SMART |
|
EGF_CA
|
321 |
361 |
3.7e-9 |
SMART |
|
EGF_CA
|
362 |
400 |
1.85e-9 |
SMART |
|
EGF_CA
|
401 |
441 |
2.48e-10 |
SMART |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
Pfam:GCC2_GCC3
|
670 |
717 |
1.8e-16 |
PFAM |
|
Pfam:GCC2_GCC3
|
726 |
773 |
2.7e-18 |
PFAM |
|
CUB
|
778 |
890 |
1.23e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132113
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation are smaller than controls. Mice also exhibit defective endochondral bone formation and impaired Ihh-mediated chondrocyte differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
G |
1: 53,221,668 (GRCm39) |
S54P |
probably benign |
Het |
| 2700062C07Rik |
C |
T |
18: 24,608,715 (GRCm39) |
P145L |
probably benign |
Het |
| Akap3 |
A |
T |
6: 126,841,984 (GRCm39) |
D201V |
probably damaging |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,733,237 (GRCm39) |
S400P |
probably benign |
Het |
| Brd7 |
A |
T |
8: 89,059,559 (GRCm39) |
I617N |
probably damaging |
Het |
| Cdhr2 |
C |
A |
13: 54,865,674 (GRCm39) |
P224Q |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,403,202 (GRCm39) |
N1104S |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,892,267 (GRCm39) |
Y337H |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
| Cntnap2 |
C |
A |
6: 46,833,062 (GRCm39) |
F758L |
probably benign |
Het |
| Cpsf1 |
G |
A |
15: 76,485,979 (GRCm39) |
T397M |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,094,662 (GRCm39) |
D32G |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,690,815 (GRCm39) |
D308G |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,375,404 (GRCm39) |
N1063S |
possibly damaging |
Het |
| E030030I06Rik |
C |
A |
10: 22,024,899 (GRCm39) |
G5C |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,235,498 (GRCm39) |
T32A |
probably damaging |
Het |
| Fbxo9 |
C |
A |
9: 78,005,623 (GRCm39) |
|
probably null |
Het |
| Gpatch3 |
G |
A |
4: 133,305,458 (GRCm39) |
R231H |
possibly damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
| H2-Q6 |
C |
A |
17: 35,644,792 (GRCm39) |
Q194K |
probably benign |
Het |
| Hmgb1 |
A |
G |
5: 148,987,510 (GRCm39) |
M13T |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,382,074 (GRCm39) |
L706* |
probably null |
Het |
| Krt12 |
A |
T |
11: 99,312,854 (GRCm39) |
F63L |
unknown |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,820,096 (GRCm39) |
S102P |
probably benign |
Het |
| Loxl4 |
A |
T |
19: 42,596,798 (GRCm39) |
V71E |
probably damaging |
Het |
| Lrrc36 |
A |
C |
8: 106,153,439 (GRCm39) |
N83T |
probably damaging |
Het |
| Med26 |
G |
A |
8: 73,250,413 (GRCm39) |
R229C |
probably damaging |
Het |
| Mgam |
G |
A |
6: 40,731,836 (GRCm39) |
R1351Q |
probably damaging |
Het |
| Mroh8 |
T |
A |
2: 157,055,640 (GRCm39) |
D986V |
probably damaging |
Het |
| Mrpl49 |
T |
C |
19: 6,105,230 (GRCm39) |
D77G |
probably benign |
Het |
| Mrps30 |
T |
C |
13: 118,517,077 (GRCm39) |
N381D |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,899,985 (GRCm39) |
T729I |
probably benign |
Het |
| Omd |
T |
A |
13: 49,743,125 (GRCm39) |
N58K |
probably benign |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Or4a75 |
C |
A |
2: 89,448,207 (GRCm39) |
V110F |
probably damaging |
Het |
| Plpp5 |
T |
A |
8: 26,210,631 (GRCm39) |
L74Q |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,278,792 (GRCm39) |
Y1374N |
probably benign |
Het |
| Rbak |
A |
T |
5: 143,159,724 (GRCm39) |
I443K |
probably damaging |
Het |
| Rhpn1 |
A |
T |
15: 75,582,406 (GRCm39) |
S195C |
probably damaging |
Het |
| Rnf115 |
T |
A |
3: 96,693,299 (GRCm39) |
I210N |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 17,025,480 (GRCm39) |
V1234I |
probably damaging |
Het |
| Serpina3n |
G |
T |
12: 104,377,660 (GRCm39) |
|
probably null |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Slco2b1 |
A |
G |
7: 99,332,032 (GRCm39) |
L283P |
probably damaging |
Het |
| Spag1 |
G |
A |
15: 36,234,447 (GRCm39) |
V736M |
probably damaging |
Het |
| Srebf2 |
T |
A |
15: 82,062,984 (GRCm39) |
C434S |
probably damaging |
Het |
| Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Trhr2 |
T |
C |
8: 123,087,438 (GRCm39) |
M1V |
probably null |
Het |
| Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn2r105 |
T |
C |
17: 20,429,016 (GRCm39) |
R687G |
probably damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,044 (GRCm39) |
Y308C |
possibly damaging |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,576,898 (GRCm39) |
V61A |
possibly damaging |
Het |
|
| Other mutations in Scube2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Scube2
|
APN |
7 |
109,407,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Scube2
|
APN |
7 |
109,442,461 (GRCm39) |
missense |
probably benign |
|
|
IGL02080:Scube2
|
APN |
7 |
109,451,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Scube2
|
UTSW |
7 |
109,408,387 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0020:Scube2
|
UTSW |
7 |
109,430,095 (GRCm39) |
splice site |
probably benign |
|
|
R0020:Scube2
|
UTSW |
7 |
109,430,095 (GRCm39) |
splice site |
probably benign |
|
|
R0106:Scube2
|
UTSW |
7 |
109,446,115 (GRCm39) |
splice site |
probably benign |
|
|
R0230:Scube2
|
UTSW |
7 |
109,423,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0255:Scube2
|
UTSW |
7 |
109,424,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0427:Scube2
|
UTSW |
7 |
109,424,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0612:Scube2
|
UTSW |
7 |
109,403,971 (GRCm39) |
splice site |
probably benign |
|
|
R0658:Scube2
|
UTSW |
7 |
109,436,327 (GRCm39) |
splice site |
probably benign |
|
|
R0687:Scube2
|
UTSW |
7 |
109,428,335 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1087:Scube2
|
UTSW |
7 |
109,430,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1366:Scube2
|
UTSW |
7 |
109,403,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Scube2
|
UTSW |
7 |
109,442,421 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1797:Scube2
|
UTSW |
7 |
109,430,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Scube2
|
UTSW |
7 |
109,408,421 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2080:Scube2
|
UTSW |
7 |
109,407,712 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2254:Scube2
|
UTSW |
7 |
109,424,666 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2315:Scube2
|
UTSW |
7 |
109,403,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2325:Scube2
|
UTSW |
7 |
109,443,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3723:Scube2
|
UTSW |
7 |
109,407,613 (GRCm39) |
splice site |
probably benign |
|
|
R3887:Scube2
|
UTSW |
7 |
109,442,383 (GRCm39) |
splice site |
probably benign |
|
|
R3946:Scube2
|
UTSW |
7 |
109,456,797 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4621:Scube2
|
UTSW |
7 |
109,399,857 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4684:Scube2
|
UTSW |
7 |
109,409,920 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4736:Scube2
|
UTSW |
7 |
109,430,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5096:Scube2
|
UTSW |
7 |
109,398,451 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5266:Scube2
|
UTSW |
7 |
109,408,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Scube2
|
UTSW |
7 |
109,409,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5669:Scube2
|
UTSW |
7 |
109,424,646 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5838:Scube2
|
UTSW |
7 |
109,407,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Scube2
|
UTSW |
7 |
109,430,931 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6056:Scube2
|
UTSW |
7 |
109,432,220 (GRCm39) |
nonsense |
probably null |
|
|
R6731:Scube2
|
UTSW |
7 |
109,409,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:Scube2
|
UTSW |
7 |
109,409,824 (GRCm39) |
missense |
probably benign |
|
|
R8197:Scube2
|
UTSW |
7 |
109,407,684 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8250:Scube2
|
UTSW |
7 |
109,463,377 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8273:Scube2
|
UTSW |
7 |
109,408,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8427:Scube2
|
UTSW |
7 |
109,399,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8882:Scube2
|
UTSW |
7 |
109,451,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Scube2
|
UTSW |
7 |
109,398,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9428:Scube2
|
UTSW |
7 |
109,428,345 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9476:Scube2
|
UTSW |
7 |
109,430,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Scube2
|
UTSW |
7 |
109,430,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Scube2
|
UTSW |
7 |
109,430,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Scube2
|
UTSW |
7 |
109,442,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Scube2
|
UTSW |
7 |
109,437,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAGGCCCAGTGGAGTATGC -3'
(R):5'- GGTTAAAACTCTCAACCAAGGC -3'
Sequencing Primer
(F):5'- TGGAGTATGCAAGCACACAGTCTC -3'
(R):5'- GTTAAAACTCTCAACCAAGGCACATG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation