Incidental Mutation 'R6785:Scube2'
| ID |
531625 |
| 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 |
044899-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R6785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109397897-109464886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109409824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 557
(I557T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007423]
[ENSMUST00000106728]
[ENSMUST00000106729]
|
| AlphaFold |
Q9JJS0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007423
AA Change: I683T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: I683T
| 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: I557T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: I557T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
98% (59/60) |
| 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 |
|---|
| Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
| Acad12 |
T |
C |
5: 121,747,908 (GRCm39) |
Y170C |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,402,605 (GRCm39) |
V587A |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,171,212 (GRCm39) |
I422V |
probably damaging |
Het |
| Aldh18a1 |
A |
G |
19: 40,556,788 (GRCm39) |
L375P |
probably damaging |
Het |
| B020011L13Rik |
A |
G |
1: 117,728,799 (GRCm39) |
D102G |
possibly damaging |
Het |
| Cfap74 |
T |
A |
4: 155,538,481 (GRCm39) |
|
probably benign |
Het |
| Coa4 |
G |
A |
7: 100,188,460 (GRCm39) |
V58M |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,875,167 (GRCm39) |
N647S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,596,113 (GRCm39) |
G1547S |
probably damaging |
Het |
| Espnl |
A |
G |
1: 91,249,943 (GRCm39) |
D30G |
probably benign |
Het |
| Fasl |
T |
A |
1: 161,609,404 (GRCm39) |
Y194F |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,230,754 (GRCm39) |
E349G |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,312,531 (GRCm39) |
V13A |
possibly damaging |
Het |
| Gm4559 |
A |
G |
7: 141,827,845 (GRCm39) |
C86R |
unknown |
Het |
| H2-M9 |
T |
C |
17: 36,953,125 (GRCm39) |
N61D |
probably damaging |
Het |
| H6pd |
C |
T |
4: 150,067,247 (GRCm39) |
E380K |
possibly damaging |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Hnrnpd |
C |
A |
5: 100,126,283 (GRCm39) |
K67N |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,235,709 (GRCm39) |
S170P |
probably damaging |
Het |
| Igsf10 |
G |
T |
3: 59,226,665 (GRCm39) |
P2336Q |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,634,572 (GRCm39) |
|
probably null |
Het |
| Katnb1 |
T |
C |
8: 95,822,270 (GRCm39) |
Y298H |
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,819,933 (GRCm39) |
N1610K |
probably damaging |
Het |
| Lce1l |
A |
T |
3: 92,757,500 (GRCm39) |
C119* |
probably null |
Het |
| Lcn2 |
C |
T |
2: 32,277,039 (GRCm39) |
|
probably null |
Het |
| Lmf2 |
A |
T |
15: 89,236,236 (GRCm39) |
S588T |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,688,835 (GRCm39) |
L231P |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,547 (GRCm39) |
R288G |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,338,392 (GRCm39) |
V694A |
probably benign |
Het |
| Ndnf |
C |
A |
6: 65,680,047 (GRCm39) |
L109I |
probably benign |
Het |
| Nfkb1 |
C |
A |
3: 135,321,064 (GRCm39) |
E230D |
probably benign |
Het |
| Nostrin |
A |
G |
2: 69,014,271 (GRCm39) |
K409R |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,266,854 (GRCm39) |
Q22R |
probably benign |
Het |
| Or1j10 |
C |
A |
2: 36,266,963 (GRCm39) |
Y58* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,765 (GRCm39) |
M136L |
probably damaging |
Het |
| Pdpr |
C |
A |
8: 111,851,243 (GRCm39) |
T534N |
probably benign |
Het |
| Plekhf1 |
G |
A |
7: 37,921,488 (GRCm39) |
Q27* |
probably null |
Het |
| Ppp6c |
A |
T |
2: 39,087,593 (GRCm39) |
H204Q |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,536,670 (GRCm39) |
|
probably benign |
Het |
| Prrg2 |
A |
G |
7: 44,709,649 (GRCm39) |
F83L |
probably damaging |
Het |
| Rab11fip3 |
T |
G |
17: 26,210,692 (GRCm39) |
D938A |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,079,620 (GRCm39) |
N1228S |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,764,299 (GRCm39) |
T3060K |
probably benign |
Het |
| Setdb1 |
C |
A |
3: 95,233,712 (GRCm39) |
R1066L |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,049,066 (GRCm39) |
M1100V |
probably benign |
Het |
| Slc35f3 |
T |
C |
8: 127,121,198 (GRCm39) |
V353A |
probably benign |
Het |
| Slfn3 |
A |
T |
11: 83,105,427 (GRCm39) |
T475S |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,071,085 (GRCm39) |
M1122K |
possibly damaging |
Het |
| Tead4 |
T |
A |
6: 128,219,444 (GRCm39) |
K223* |
probably null |
Het |
| Tex2 |
A |
C |
11: 106,424,776 (GRCm39) |
I334R |
probably damaging |
Het |
| Tfdp1 |
C |
T |
8: 13,420,485 (GRCm39) |
R105W |
probably damaging |
Het |
| Tfdp1 |
G |
T |
8: 13,427,233 (GRCm39) |
V393F |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,358,644 (GRCm39) |
L26P |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,332,027 (GRCm39) |
I73T |
probably damaging |
Het |
| Tssk4 |
T |
A |
14: 55,887,932 (GRCm39) |
Y43N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,541,839 (GRCm39) |
T25389A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,578,288 (GRCm39) |
F24202I |
probably damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,562 (GRCm39) |
S105P |
probably damaging |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,203 (GRCm39) |
T697S |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,219,601 (GRCm39) |
C541* |
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 |
|
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'- ATTTGTTCATGTAGGCATCAGC -3'
(R):5'- ACACTGACCAGATTGTCCCC -3'
Sequencing Primer
(F):5'- AGTGTGTCCGGTGCCAAC -3'
(R):5'- CCCTTTGGCTAGTCAGTTGCAG -3'
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| Posted On |
2018-08-29 |
Incidental Mutation