Incidental Mutation 'R3723:Scube2'
ID |
270630 |
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 |
040714-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.527)
|
Stock # |
R3723 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109397897-109464886 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 109407613 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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138946
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
95% (38/40) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,994,217 (GRCm39) |
V5167A |
possibly damaging |
Het |
Ano5 |
A |
G |
7: 51,226,276 (GRCm39) |
Y510C |
probably damaging |
Het |
Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
Apob |
A |
T |
12: 8,056,327 (GRCm39) |
Q1570L |
probably damaging |
Het |
Apob |
A |
G |
12: 8,061,763 (GRCm39) |
N3415S |
possibly damaging |
Het |
Arsk |
T |
A |
13: 76,214,772 (GRCm39) |
I361F |
probably damaging |
Het |
C9 |
G |
A |
15: 6,512,561 (GRCm39) |
E228K |
possibly damaging |
Het |
Celsr2 |
A |
G |
3: 108,304,731 (GRCm39) |
|
probably benign |
Het |
Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
Ckap4 |
A |
G |
10: 84,364,256 (GRCm39) |
L269P |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,486,505 (GRCm39) |
D3352V |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,041,658 (GRCm39) |
M3335K |
probably benign |
Het |
Fam171a1 |
A |
G |
2: 3,221,412 (GRCm39) |
|
probably benign |
Het |
Glis3 |
A |
T |
19: 28,239,991 (GRCm39) |
C97* |
probably null |
Het |
Gm14221 |
C |
G |
2: 160,410,347 (GRCm39) |
|
noncoding transcript |
Het |
Gm8603 |
A |
C |
17: 13,737,075 (GRCm39) |
|
probably null |
Het |
Gm9767 |
G |
T |
10: 25,954,469 (GRCm39) |
|
probably benign |
Het |
Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
Kif18b |
A |
G |
11: 102,807,102 (GRCm39) |
F78L |
probably damaging |
Het |
Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
Mipol1 |
C |
A |
12: 57,503,878 (GRCm39) |
L349I |
probably damaging |
Het |
Myo10 |
T |
C |
15: 25,803,374 (GRCm39) |
V1527A |
probably damaging |
Het |
Naip5 |
G |
T |
13: 100,359,522 (GRCm39) |
Y571* |
probably null |
Het |
Npl |
A |
G |
1: 153,391,210 (GRCm39) |
F182L |
probably benign |
Het |
Pan3 |
T |
A |
5: 147,440,018 (GRCm39) |
|
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
Pcdhga1 |
A |
G |
18: 37,796,045 (GRCm39) |
T350A |
possibly damaging |
Het |
Pramel28 |
T |
C |
4: 143,693,251 (GRCm39) |
T76A |
probably benign |
Het |
Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
Rere |
A |
G |
4: 150,553,252 (GRCm39) |
E148G |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,087,335 (GRCm39) |
S1035P |
possibly damaging |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
Supt3 |
A |
G |
17: 45,305,274 (GRCm39) |
D108G |
probably damaging |
Het |
Tnfsf13b |
A |
G |
8: 10,081,545 (GRCm39) |
I236V |
possibly damaging |
Het |
Tns1 |
T |
C |
1: 73,964,099 (GRCm39) |
S1511G |
probably damaging |
Het |
Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
Vmn1r117 |
T |
A |
7: 20,617,380 (GRCm39) |
I223F |
probably damaging |
Het |
Vmn2r91 |
G |
A |
17: 18,305,540 (GRCm39) |
|
probably null |
Het |
Zfp30 |
A |
G |
7: 29,492,778 (GRCm39) |
E344G |
probably 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 |
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 |
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'- GGTATTTGATTCAATCCCCTGC -3'
(R):5'- ACAGTTCAATGCTCGCCTGG -3'
Sequencing Primer
(F):5'- TGAGCATTTCTAGGTCACAGC -3'
(R):5'- GCCTGGGCATTTCTACAACAC -3'
|
Posted On |
2015-03-18 |