Incidental Mutation 'R5669:Scube2'
| ID |
442513 |
| 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 |
043312-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R5669 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109397897-109464886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 109424646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 556
(A556T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007423]
[ENSMUST00000106728]
[ENSMUST00000106729]
|
| AlphaFold |
Q9JJS0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007423
AA Change: A528T
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: A528T
| 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
AA Change: A556T
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: A556T
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,100,540 (GRCm39) |
L2734* |
probably null |
Het |
| Aldh1a1 |
T |
C |
19: 20,588,284 (GRCm39) |
I25T |
probably damaging |
Het |
| Astl |
G |
T |
2: 127,189,199 (GRCm39) |
R175L |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,474,550 (GRCm39) |
C661S |
probably damaging |
Het |
| Cd160 |
C |
T |
3: 96,716,214 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpb |
C |
T |
12: 111,268,447 (GRCm39) |
|
probably null |
Het |
| Cdip1 |
T |
A |
16: 4,586,679 (GRCm39) |
I149F |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,964,127 (GRCm39) |
Y607C |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,803,197 (GRCm39) |
I1256T |
unknown |
Het |
| Copb1 |
A |
G |
7: 113,836,820 (GRCm39) |
V336A |
probably damaging |
Het |
| Ddx42 |
A |
T |
11: 106,132,645 (GRCm39) |
D556V |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,425,964 (GRCm39) |
V279A |
probably benign |
Het |
| Fbll1 |
T |
C |
11: 35,688,411 (GRCm39) |
N284S |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 108,974,578 (GRCm39) |
I314N |
probably benign |
Het |
| Foxa3 |
T |
C |
7: 18,748,176 (GRCm39) |
T317A |
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,669,351 (GRCm39) |
C498S |
probably benign |
Het |
| Hapln3 |
G |
T |
7: 78,767,244 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
A |
G |
6: 69,608,832 (GRCm39) |
V29A |
possibly damaging |
Het |
| Itgb8 |
T |
A |
12: 119,154,363 (GRCm39) |
I225F |
probably damaging |
Het |
| Kcnk3 |
A |
G |
5: 30,779,693 (GRCm39) |
T248A |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,977,648 (GRCm39) |
Q130R |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,001,050 (GRCm39) |
H2058R |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,370,018 (GRCm39) |
E1581V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,733,907 (GRCm39) |
N252D |
probably damaging |
Het |
| Nadsyn1 |
C |
T |
7: 143,361,168 (GRCm39) |
G335S |
probably damaging |
Het |
| Or10ag53 |
T |
C |
2: 87,082,785 (GRCm39) |
V168A |
probably benign |
Het |
| Or7e165 |
T |
C |
9: 19,695,053 (GRCm39) |
F208S |
probably benign |
Het |
| Pak5 |
G |
A |
2: 135,958,204 (GRCm39) |
P295S |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,278,221 (GRCm39) |
S595T |
probably benign |
Het |
| Pepd |
T |
C |
7: 34,740,099 (GRCm39) |
V324A |
probably benign |
Het |
| Pml |
C |
T |
9: 58,154,346 (GRCm39) |
D176N |
probably benign |
Het |
| Popdc3 |
T |
A |
10: 45,192,529 (GRCm39) |
I163N |
probably damaging |
Het |
| Ppp1r13l |
A |
C |
7: 19,106,947 (GRCm39) |
T481P |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,122,413 (GRCm39) |
I44V |
probably benign |
Het |
| Prlh |
A |
G |
1: 90,880,842 (GRCm39) |
T5A |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,170,285 (GRCm39) |
F638S |
possibly damaging |
Het |
| Prpf8 |
T |
A |
11: 75,395,564 (GRCm39) |
L1897H |
probably damaging |
Het |
| Ret |
T |
C |
6: 118,161,204 (GRCm39) |
T91A |
probably benign |
Het |
| Retsat |
A |
G |
6: 72,582,993 (GRCm39) |
S176G |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,349,611 (GRCm39) |
L3823P |
possibly damaging |
Het |
| Rnf31 |
C |
T |
14: 55,834,161 (GRCm39) |
A653V |
probably damaging |
Het |
| Rps6kl1 |
T |
C |
12: 85,194,641 (GRCm39) |
D90G |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,377,451 (GRCm39) |
Y194H |
probably damaging |
Het |
| Serpinb1a |
A |
G |
13: 33,029,299 (GRCm39) |
L243P |
probably damaging |
Het |
| Slc39a4 |
A |
C |
15: 76,498,363 (GRCm39) |
L358R |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,919,055 (GRCm39) |
D893G |
probably damaging |
Het |
| Srgap1 |
C |
A |
10: 121,640,755 (GRCm39) |
V681L |
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,339,156 (GRCm39) |
M262K |
possibly damaging |
Het |
| Ttf2 |
T |
A |
3: 100,858,433 (GRCm39) |
K719* |
probably null |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,736 (GRCm39) |
L139* |
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,098 (GRCm39) |
I140V |
probably benign |
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 |
|
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'- GACAAGCTGTGAGAAGCCTG -3'
(R):5'- AAACAATGTTCATGAGCTCAGCTG -3'
Sequencing Primer
(F):5'- TGTGAGAAGCCTGGCATCAC -3'
(R):5'- TGAAAATGTCCCGGCTTCAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation