Incidental Mutation 'R8882:Scube2'
| ID |
676981 |
| 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 |
068750-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R8882 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109397897-109464886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 109451680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 158
(L158V)
|
| 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: L158V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: L158V
| 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 damaging
Transcript: ENSMUST00000106728
AA Change: L158V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: L158V
| 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: L158V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: L158V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (55/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
A |
T |
13: 111,392,033 (GRCm39) |
I123L |
probably benign |
Het |
| Adam18 |
T |
C |
8: 25,136,438 (GRCm39) |
D361G |
probably benign |
Het |
| Adcyap1r1 |
G |
A |
6: 55,468,219 (GRCm39) |
V352M |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,978,106 (GRCm39) |
L75P |
probably damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,355,949 (GRCm39) |
S856P |
probably benign |
Het |
| Asprv1 |
G |
T |
6: 86,605,349 (GRCm39) |
C65F |
probably benign |
Het |
| Atp2b4 |
A |
T |
1: 133,654,193 (GRCm39) |
|
probably null |
Het |
| Cd55 |
A |
G |
1: 130,387,501 (GRCm39) |
V99A |
probably benign |
Het |
| Cit |
G |
A |
5: 116,001,089 (GRCm39) |
A163T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,155,481 (GRCm39) |
D711E |
probably benign |
Het |
| Dnajc15 |
A |
T |
14: 78,094,411 (GRCm39) |
V41E |
probably damaging |
Het |
| Dock2 |
GCACACACACA |
GCACACACACACA |
11: 34,595,436 (GRCm39) |
453 |
probably null |
Het |
| Dst |
T |
C |
1: 34,240,005 (GRCm39) |
S1785P |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,769,712 (GRCm39) |
V199A |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,202,909 (GRCm39) |
G498D |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,304,957 (GRCm39) |
I562T |
|
Het |
| Fh1 |
C |
T |
1: 175,437,353 (GRCm39) |
V249I |
possibly damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,704 (GRCm39) |
I245T |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,209,629 (GRCm39) |
|
probably null |
Het |
| Hip1r |
A |
G |
5: 124,140,025 (GRCm39) |
K1043E |
probably damaging |
Het |
| Htt |
G |
A |
5: 34,979,061 (GRCm39) |
V815I |
probably benign |
Het |
| Jrk |
A |
G |
15: 74,579,004 (GRCm39) |
Y94H |
probably damaging |
Het |
| Krit1 |
T |
A |
5: 3,886,864 (GRCm39) |
N704K |
possibly damaging |
Het |
| Mmp17 |
A |
G |
5: 129,679,008 (GRCm39) |
D331G |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,257,703 (GRCm39) |
Y440* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,882,793 (GRCm39) |
T216A |
possibly damaging |
Het |
| Or1e1f |
T |
G |
11: 73,855,940 (GRCm39) |
C169G |
probably damaging |
Het |
| Or4a79 |
G |
T |
2: 89,551,740 (GRCm39) |
C238* |
probably null |
Het |
| Or5ae2 |
T |
C |
7: 84,505,681 (GRCm39) |
Y37H |
probably damaging |
Het |
| Or7e176 |
T |
C |
9: 20,171,256 (GRCm39) |
F40S |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,461 (GRCm39) |
Y35* |
probably null |
Het |
| Parva |
T |
C |
7: 112,027,211 (GRCm39) |
S14P |
probably benign |
Het |
| Pax6 |
A |
C |
2: 105,521,963 (GRCm39) |
N207H |
possibly damaging |
Het |
| Pde6a |
A |
G |
18: 61,378,619 (GRCm39) |
N314S |
|
Het |
| Phlpp1 |
T |
A |
1: 106,320,372 (GRCm39) |
S1456T |
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,677,428 (GRCm39) |
V933A |
probably damaging |
Het |
| Rasgef1b |
A |
G |
5: 99,524,860 (GRCm39) |
S100P |
probably benign |
Het |
| Rpn2 |
A |
G |
2: 157,136,102 (GRCm39) |
H170R |
probably benign |
Het |
| Sbds |
A |
G |
5: 130,282,778 (GRCm39) |
|
probably null |
Het |
| Slc16a12 |
C |
A |
19: 34,649,854 (GRCm39) |
V394L |
probably benign |
Het |
| Slc23a2 |
A |
T |
2: 131,933,159 (GRCm39) |
Y100N |
possibly damaging |
Het |
| Slc30a9 |
G |
T |
5: 67,473,044 (GRCm39) |
E43* |
probably null |
Het |
| Specc1l |
A |
T |
10: 75,065,689 (GRCm39) |
M1L |
unknown |
Het |
| Sspo |
T |
A |
6: 48,452,390 (GRCm39) |
C2785S |
probably damaging |
Het |
| Star |
T |
C |
8: 26,302,897 (GRCm39) |
S280P |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,534,341 (GRCm39) |
M127K |
probably benign |
Het |
| Tbx19 |
C |
T |
1: 164,966,780 (GRCm39) |
V365M |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,435,062 (GRCm39) |
D788G |
unknown |
Het |
| Tspyl1 |
A |
G |
10: 34,158,494 (GRCm39) |
E73G |
possibly damaging |
Het |
| Ulk2 |
C |
T |
11: 61,698,887 (GRCm39) |
|
probably null |
Het |
| Vmn2r120 |
A |
T |
17: 57,852,229 (GRCm39) |
M29K |
probably benign |
Het |
| Vmn2r60 |
C |
A |
7: 41,790,518 (GRCm39) |
Q502K |
probably benign |
Het |
| Xpo5 |
A |
G |
17: 46,538,666 (GRCm39) |
D624G |
possibly damaging |
Het |
| Zfp119b |
T |
C |
17: 56,246,923 (GRCm39) |
R88G |
possibly damaging |
Het |
| Zfp879 |
C |
A |
11: 50,724,763 (GRCm39) |
E98* |
probably null |
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 |
|
|
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 |
|
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'- CTAGACACTCTGCTTCCAGG -3'
(R):5'- AAGAGGAACCTTGTCTCCGC -3'
Sequencing Primer
(F):5'- ACTCTGCTTCCAGGATAAAGTC -3'
(R):5'- CTTGTCTCCGCTTAGCAGGAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation