Incidental Mutation 'R3887:Scube2'
| ID |
309699 |
| 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 |
| MMRRC Submission |
040799-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.633)
|
| Stock # |
R3887 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109397897-109464886 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 109442383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007423]
[ENSMUST00000106728]
[ENSMUST00000106729]
|
| AlphaFold |
Q9JJS0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007423
|
| SMART Domains |
Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (40/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
| Ankdd1a |
C |
A |
9: 65,409,530 (GRCm39) |
G469W |
probably damaging |
Het |
| Ano6 |
A |
C |
15: 95,792,330 (GRCm39) |
T65P |
possibly damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,363,019 (GRCm39) |
|
probably null |
Het |
| Ccdc175 |
A |
G |
12: 72,182,822 (GRCm39) |
I399T |
possibly damaging |
Het |
| Ceacam14 |
T |
A |
7: 17,548,063 (GRCm39) |
V51D |
probably damaging |
Het |
| Cerk |
A |
T |
15: 86,033,532 (GRCm39) |
I297N |
possibly damaging |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,595,857 (GRCm39) |
M1K |
probably null |
Het |
| Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
| Fmc1 |
T |
C |
6: 38,516,223 (GRCm39) |
S90P |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Hk2 |
C |
T |
6: 82,711,942 (GRCm39) |
D548N |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Mapk12 |
A |
T |
15: 89,019,840 (GRCm39) |
H122Q |
possibly damaging |
Het |
| Mdfic |
C |
T |
6: 15,799,710 (GRCm39) |
T279I |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,412,233 (GRCm39) |
V2580A |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,078,676 (GRCm39) |
I476T |
probably damaging |
Het |
| Ncapg |
G |
A |
5: 45,831,705 (GRCm39) |
V184I |
probably benign |
Het |
| Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,887,767 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
| Reln |
T |
C |
5: 22,115,847 (GRCm39) |
I3054V |
possibly damaging |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slc17a8 |
G |
T |
10: 89,427,000 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Stag3 |
A |
G |
5: 138,297,101 (GRCm39) |
I550M |
probably damaging |
Het |
| Steap4 |
G |
T |
5: 8,030,494 (GRCm39) |
R450L |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,556,923 (GRCm39) |
|
probably benign |
Het |
| Stxbp3 |
C |
T |
3: 108,712,549 (GRCm39) |
|
probably null |
Het |
| Syngr1 |
A |
G |
15: 80,000,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,798,967 (GRCm39) |
I513N |
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 |
|
|
R3946:Scube2
|
UTSW |
7 |
109,456,797 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4030:Scube2
|
UTSW |
7 |
109,430,978 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- TCTTGGACTGAGACAAAGGGAC -3'
(R):5'- CTTATGGAGCGGACAGTTGC -3'
Sequencing Primer
(F):5'- TGGACTGAGACAAAGGGACAGTTTG -3'
(R):5'- TGGTCACACAGTTCACATCTGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation