Incidental Mutation 'R5096:Scube2'
ID |
388044 |
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 |
042685-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.527)
|
Stock # |
R5096 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109397897-109464886 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
T to C
at 109398451 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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.6%
|
Validation Efficiency |
95% (61/64) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
A |
T |
14: 54,916,679 (GRCm39) |
|
probably benign |
Het |
Adar |
T |
A |
3: 89,654,598 (GRCm39) |
*728C |
probably null |
Het |
Ap3b1 |
A |
G |
13: 94,616,357 (GRCm39) |
R753G |
unknown |
Het |
Atp9b |
C |
T |
18: 80,805,399 (GRCm39) |
V720I |
probably benign |
Het |
AY358078 |
A |
C |
14: 52,063,575 (GRCm39) |
D407A |
probably benign |
Het |
Ccdc185 |
A |
G |
1: 182,576,354 (GRCm39) |
S112P |
possibly damaging |
Het |
Cir1 |
A |
G |
2: 73,134,105 (GRCm39) |
S155P |
probably damaging |
Het |
Colq |
C |
T |
14: 31,274,911 (GRCm39) |
E76K |
possibly damaging |
Het |
Cthrc1 |
T |
A |
15: 38,947,815 (GRCm39) |
I104N |
probably damaging |
Het |
D930020B18Rik |
A |
T |
10: 121,503,709 (GRCm39) |
I92L |
probably benign |
Het |
Eif3i |
C |
T |
4: 129,494,237 (GRCm39) |
E21K |
probably damaging |
Het |
Fam114a1 |
T |
A |
5: 65,137,234 (GRCm39) |
M59K |
probably benign |
Het |
Fam163b |
A |
G |
2: 27,002,761 (GRCm39) |
S79P |
probably benign |
Het |
Fam181b |
T |
G |
7: 92,730,452 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,821,460 (GRCm39) |
S5731N |
probably benign |
Het |
Fzd9 |
C |
T |
5: 135,278,713 (GRCm39) |
V391I |
probably damaging |
Het |
Gbp5 |
A |
G |
3: 142,207,122 (GRCm39) |
D97G |
probably damaging |
Het |
Gm10715 |
T |
C |
9: 3,038,157 (GRCm39) |
|
probably benign |
Het |
Grhl1 |
A |
T |
12: 24,653,049 (GRCm39) |
K418M |
probably damaging |
Het |
H2-Q4 |
T |
A |
17: 35,598,689 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
C |
A |
1: 150,486,420 (GRCm39) |
A4329S |
probably damaging |
Het |
Hspa8 |
T |
C |
9: 40,714,197 (GRCm39) |
|
probably benign |
Het |
Ica1l |
T |
C |
1: 60,067,313 (GRCm39) |
T26A |
possibly damaging |
Het |
Ifi209 |
T |
A |
1: 173,472,300 (GRCm39) |
N380K |
probably benign |
Het |
Inpp5e |
G |
T |
2: 26,289,537 (GRCm39) |
N482K |
probably damaging |
Het |
Iqsec3 |
C |
T |
6: 121,363,657 (GRCm39) |
V866M |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,756,260 (GRCm39) |
V492A |
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,781,068 (GRCm39) |
R647G |
probably benign |
Het |
Lcmt1 |
T |
G |
7: 123,000,691 (GRCm39) |
V75G |
probably damaging |
Het |
Lrp4 |
A |
G |
2: 91,316,137 (GRCm39) |
I752V |
possibly damaging |
Het |
Mmp17 |
C |
A |
5: 129,682,627 (GRCm39) |
P422Q |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,464,254 (GRCm39) |
H165L |
probably benign |
Het |
Nos3 |
C |
T |
5: 24,576,955 (GRCm39) |
T494I |
probably damaging |
Het |
Or1ak2 |
T |
C |
2: 36,827,815 (GRCm39) |
V228A |
possibly damaging |
Het |
Or4p22 |
C |
T |
2: 88,317,646 (GRCm39) |
T190I |
possibly damaging |
Het |
Or51q1c |
T |
C |
7: 103,652,667 (GRCm39) |
Y68H |
probably benign |
Het |
Or8u8 |
A |
G |
2: 86,012,276 (GRCm39) |
Y60H |
probably damaging |
Het |
Pkn2 |
A |
C |
3: 142,545,092 (GRCm39) |
V27G |
probably damaging |
Het |
Skint7 |
A |
G |
4: 111,839,152 (GRCm39) |
I149V |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,928,612 (GRCm39) |
I412K |
probably damaging |
Het |
Snx19 |
T |
A |
9: 30,340,082 (GRCm39) |
C407S |
probably benign |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Sytl2 |
T |
A |
7: 90,025,290 (GRCm39) |
I426N |
possibly damaging |
Het |
Tbce |
A |
T |
13: 14,203,990 (GRCm39) |
|
probably benign |
Het |
Tdpoz2 |
T |
C |
3: 93,559,819 (GRCm39) |
E51G |
possibly damaging |
Het |
Tmem221 |
A |
G |
8: 72,011,353 (GRCm39) |
L34P |
probably damaging |
Het |
Tmem92 |
T |
C |
11: 94,669,862 (GRCm39) |
T90A |
probably benign |
Het |
Tpr |
A |
G |
1: 150,321,953 (GRCm39) |
D42G |
probably damaging |
Het |
Wt1 |
A |
G |
2: 104,973,470 (GRCm39) |
T237A |
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 |
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 |
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 |
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'- CGCAGTCCACATCTGAAATG -3'
(R):5'- AAGATTTGAGTGTCTTGGCCC -3'
Sequencing Primer
(F):5'- CAGTCCACATCTGAAATGTTGGG -3'
(R):5'- GAGTGTCTTGGCCCCATAAC -3'
|
Posted On |
2016-06-06 |