Incidental Mutation 'R8197:Scube2'
| ID |
635490 |
| 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 |
067620-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R8197 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109397897-109464886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109407684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 752
(N752I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007423]
[ENSMUST00000106728]
[ENSMUST00000106729]
|
| AlphaFold |
Q9JJS0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007423
AA Change: N781I
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: N781I
| 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: N655I
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: N655I
| 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 |
possibly damaging
Transcript: ENSMUST00000106729
AA Change: N752I
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: N752I
| 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 |
|
| Meta Mutation Damage Score |
0.1417 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
96% (46/48) |
| 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 |
|---|
| Aars1 |
T |
A |
8: 111,780,628 (GRCm39) |
D836E |
probably benign |
Het |
| Abca6 |
A |
C |
11: 110,102,641 (GRCm39) |
L861R |
probably damaging |
Het |
| Adamts18 |
G |
T |
8: 114,481,227 (GRCm39) |
A560E |
probably damaging |
Het |
| Adra2b |
A |
T |
2: 127,206,578 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Anxa3 |
A |
G |
5: 96,982,651 (GRCm39) |
T250A |
probably benign |
Het |
| B4galt5 |
T |
A |
2: 167,144,023 (GRCm39) |
N309I |
probably benign |
Het |
| Bub1 |
G |
T |
2: 127,643,177 (GRCm39) |
R1056S |
probably damaging |
Het |
| Ccdc185 |
G |
T |
1: 182,576,324 (GRCm39) |
P122T |
possibly damaging |
Het |
| Cdk5rap3 |
A |
G |
11: 96,806,975 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
T |
A |
8: 113,296,857 (GRCm39) |
Y31N |
probably benign |
Het |
| Crygc |
T |
C |
1: 65,112,365 (GRCm39) |
M70V |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,517,666 (GRCm39) |
E2000G |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,203,171 (GRCm39) |
N266S |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,249,088 (GRCm39) |
D304E |
probably benign |
Het |
| Fabp9 |
T |
G |
3: 10,259,887 (GRCm39) |
K42T |
probably benign |
Het |
| Fhl4 |
T |
A |
10: 84,934,101 (GRCm39) |
I227F |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,926,921 (GRCm39) |
|
probably null |
Het |
| Gsdmd |
T |
C |
15: 75,736,186 (GRCm39) |
I105T |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,092,348 (GRCm39) |
D317G |
possibly damaging |
Het |
| Hrh4 |
A |
G |
18: 13,154,986 (GRCm39) |
Y175C |
probably damaging |
Het |
| Igfals |
A |
G |
17: 25,099,278 (GRCm39) |
N123S |
probably benign |
Het |
| Igkv5-37 |
A |
G |
6: 69,940,841 (GRCm39) |
V2A |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,389,971 (GRCm39) |
L500P |
unknown |
Het |
| Itgae |
G |
A |
11: 73,011,210 (GRCm39) |
R660Q |
probably benign |
Het |
| Kcnip2 |
T |
C |
19: 45,782,730 (GRCm39) |
I204V |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,493,447 (GRCm39) |
E471G |
probably damaging |
Het |
| Lrrtm3 |
T |
A |
10: 63,924,295 (GRCm39) |
T291S |
possibly damaging |
Het |
| Mast1 |
T |
A |
8: 85,639,450 (GRCm39) |
H1293L |
possibly damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,607 (GRCm39) |
E257G |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,743,607 (GRCm39) |
Y223H |
probably damaging |
Het |
| Nab1 |
G |
A |
1: 52,529,127 (GRCm39) |
R257* |
probably null |
Het |
| Ncapd3 |
C |
A |
9: 26,997,329 (GRCm39) |
L1217I |
probably damaging |
Het |
| Or5h18 |
T |
A |
16: 58,847,448 (GRCm39) |
D274V |
probably benign |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pde4d |
T |
A |
13: 110,084,870 (GRCm39) |
I489N |
probably damaging |
Het |
| Pdyn |
C |
T |
2: 129,530,277 (GRCm39) |
G131R |
probably benign |
Het |
| Qrich2 |
CACCTGCTTGCAACACACCAGGCTGAACTGGACCT |
CACCT |
11: 116,347,861 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
T |
C |
4: 133,592,673 (GRCm39) |
K276E |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Scyl2 |
T |
C |
10: 89,498,228 (GRCm39) |
I194V |
probably benign |
Het |
| Sec31b |
T |
G |
19: 44,512,955 (GRCm39) |
R511S |
probably benign |
Het |
| Serpinb6d |
T |
C |
13: 33,851,588 (GRCm39) |
F115S |
probably damaging |
Het |
| Skint6 |
T |
G |
4: 112,752,040 (GRCm39) |
|
probably null |
Het |
| Supt16 |
G |
A |
14: 52,411,542 (GRCm39) |
P614S |
possibly damaging |
Het |
| Tmem114 |
T |
C |
16: 8,227,516 (GRCm39) |
I182M |
probably damaging |
Het |
| Vmn1r125 |
G |
A |
7: 21,006,851 (GRCm39) |
V250I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,109,577 (GRCm39) |
H89L |
possibly damaging |
Het |
| Zfp959 |
A |
T |
17: 56,204,677 (GRCm39) |
D238V |
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 |
|
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 |
|
|
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'- CTGAATGGACCTGGAATCCTG -3'
(R):5'- CTCTCACTCTGGCTATTGAGGG -3'
Sequencing Primer
(F):5'- AATGGACCTGGAATCCTGGCTAC -3'
(R):5'- GCTTACCAGGAAAGCAGTATTTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation