Incidental Mutation 'IGL00094:Scube2'
| ID |
1453 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.633)
|
| Stock # |
IGL00094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
109397897-109464886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109407661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 760
(T760A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007423]
[ENSMUST00000106728]
[ENSMUST00000106729]
|
| AlphaFold |
Q9JJS0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007423
AA Change: T789A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: T789A
| 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: T663A
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: T663A
| 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 damaging
Transcript: ENSMUST00000106729
AA Change: T760A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: T760A
| 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 |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,591,254 (GRCm39) |
N547K |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,247,443 (GRCm39) |
T2397A |
probably benign |
Het |
| Abcc1 |
A |
G |
16: 14,288,398 (GRCm39) |
N1341S |
probably null |
Het |
| Adcy9 |
T |
A |
16: 4,122,446 (GRCm39) |
I535L |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,187,763 (GRCm39) |
S1726G |
possibly damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,577,813 (GRCm39) |
M5V |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,889,019 (GRCm39) |
N299K |
probably benign |
Het |
| B3gnt2 |
C |
T |
11: 22,786,151 (GRCm39) |
V346I |
probably benign |
Het |
| Ceacam14 |
G |
A |
7: 17,548,062 (GRCm39) |
V51I |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,634,682 (GRCm39) |
D812G |
probably damaging |
Het |
| Cfap97d1 |
A |
G |
11: 101,881,646 (GRCm39) |
E114G |
possibly damaging |
Het |
| Chrna9 |
T |
C |
5: 66,126,600 (GRCm39) |
V118A |
probably benign |
Het |
| Cpsf7 |
A |
G |
19: 10,517,151 (GRCm39) |
R418G |
probably damaging |
Het |
| Csnk1g3 |
T |
C |
18: 54,052,075 (GRCm39) |
Y215H |
probably damaging |
Het |
| Dcaf5 |
A |
C |
12: 80,386,097 (GRCm39) |
N676K |
probably benign |
Het |
| Dld |
A |
T |
12: 31,385,576 (GRCm39) |
M255K |
probably benign |
Het |
| Esr2 |
A |
T |
12: 76,180,670 (GRCm39) |
L417H |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,820,730 (GRCm39) |
S5488T |
probably benign |
Het |
| Gatb |
A |
T |
3: 85,509,227 (GRCm39) |
I130L |
possibly damaging |
Het |
| Gbp9 |
T |
C |
5: 105,229,130 (GRCm39) |
K506E |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,229,568 (GRCm39) |
N703S |
probably damaging |
Het |
| Itgb3 |
T |
A |
11: 104,524,410 (GRCm39) |
V182E |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,617,426 (GRCm39) |
Y582F |
probably damaging |
Het |
| Lancl2 |
T |
A |
6: 57,701,522 (GRCm39) |
|
probably benign |
Het |
| Lgals3 |
A |
G |
14: 47,622,175 (GRCm39) |
K197R |
probably benign |
Het |
| Lipe |
T |
C |
7: 25,082,977 (GRCm39) |
T767A |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,338,123 (GRCm39) |
D1219V |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 154,806,698 (GRCm39) |
C116S |
probably benign |
Het |
| Mcm5 |
T |
G |
8: 75,851,573 (GRCm39) |
|
probably null |
Het |
| Mtpn |
G |
T |
6: 35,499,711 (GRCm39) |
T31K |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,460,486 (GRCm39) |
Y1494N |
probably damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,274,350 (GRCm39) |
E498* |
probably null |
Het |
| Nos1 |
T |
G |
5: 118,048,165 (GRCm39) |
S657A |
probably damaging |
Het |
| Nr3c1 |
A |
T |
18: 39,561,661 (GRCm39) |
|
probably null |
Het |
| Or12e7 |
T |
A |
2: 87,288,271 (GRCm39) |
V254E |
probably damaging |
Het |
| Or13a17 |
A |
T |
7: 140,271,349 (GRCm39) |
H177L |
probably damaging |
Het |
| Or4c127 |
T |
A |
2: 89,833,365 (GRCm39) |
I205N |
possibly damaging |
Het |
| Or7g32 |
T |
A |
9: 19,408,155 (GRCm39) |
I37N |
probably damaging |
Het |
| Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
| Or8s8 |
T |
G |
15: 98,354,299 (GRCm39) |
V36G |
possibly damaging |
Het |
| Or9i1 |
A |
T |
19: 13,839,150 (GRCm39) |
|
probably benign |
Het |
| Osbp2 |
T |
G |
11: 3,661,848 (GRCm39) |
S735R |
probably benign |
Het |
| Otop3 |
A |
T |
11: 115,235,279 (GRCm39) |
T304S |
probably benign |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,128 (GRCm39) |
L369F |
probably damaging |
Het |
| Pick1 |
T |
C |
15: 79,131,457 (GRCm39) |
|
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,456,119 (GRCm39) |
V149E |
probably damaging |
Het |
| Prss12 |
G |
A |
3: 123,280,598 (GRCm39) |
|
probably benign |
Het |
| Rab19 |
A |
T |
6: 39,365,132 (GRCm39) |
|
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,262,776 (GRCm39) |
W5R |
probably damaging |
Het |
| Rfx4 |
T |
A |
10: 84,676,063 (GRCm39) |
L44Q |
probably damaging |
Het |
| Shcbp1 |
A |
C |
8: 4,804,258 (GRCm39) |
Y145* |
probably null |
Het |
| Snx31 |
T |
A |
15: 36,545,761 (GRCm39) |
|
probably null |
Het |
| Spopl |
A |
T |
2: 23,427,643 (GRCm39) |
V163E |
possibly damaging |
Het |
| Sqor |
T |
C |
2: 122,629,463 (GRCm39) |
I107T |
probably damaging |
Het |
| Tcte1 |
T |
C |
17: 45,845,854 (GRCm39) |
F153L |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,123,238 (GRCm39) |
H121L |
probably damaging |
Het |
| Tnip1 |
G |
T |
11: 54,831,643 (GRCm39) |
Y10* |
probably null |
Het |
| Tnxb |
G |
T |
17: 34,904,603 (GRCm39) |
G1123C |
probably damaging |
Het |
| Wdr62 |
T |
C |
7: 29,942,948 (GRCm39) |
E515G |
probably benign |
Het |
| Zfand1 |
A |
T |
3: 10,413,590 (GRCm39) |
D32E |
probably null |
Het |
| Zfp112 |
A |
C |
7: 23,821,668 (GRCm39) |
T3P |
probably damaging |
Het |
|
| Other mutations in Scube2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2011-07-12 |
Incidental Mutation