Incidental Mutation 'R5916:Scube2'
ID |
461331 |
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 |
044113-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.527)
|
Stock # |
R5916 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109397897-109464886 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109430931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 423
(Y423H)
|
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: Y423H
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000007423 Gene: ENSMUSG00000007279 AA Change: Y423H
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 |
possibly damaging
Transcript: ENSMUST00000106728
AA Change: Y423H
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102339 Gene: ENSMUSG00000007279 AA Change: Y423H
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: Y423H
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000102340 Gene: ENSMUSG00000007279 AA Change: Y423H
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: 99.8%
- 3x: 99.3%
- 10x: 97.2%
- 20x: 92.4%
|
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 |
Aadacl4 |
A |
T |
4: 144,349,550 (GRCm39) |
N269I |
possibly damaging |
Het |
Abcc1 |
G |
T |
16: 14,283,006 (GRCm39) |
V1161F |
possibly damaging |
Het |
Adam3 |
A |
T |
8: 25,174,555 (GRCm39) |
|
probably null |
Het |
Agt |
A |
T |
8: 125,290,597 (GRCm39) |
S237T |
possibly damaging |
Het |
Ano3 |
A |
T |
2: 110,512,181 (GRCm39) |
F674L |
probably benign |
Het |
Asb2 |
G |
T |
12: 103,290,135 (GRCm39) |
A504E |
probably damaging |
Het |
Atp13a1 |
T |
A |
8: 70,259,748 (GRCm39) |
I1113N |
probably damaging |
Het |
Atxn7l2 |
T |
C |
3: 108,112,978 (GRCm39) |
|
probably null |
Het |
Bambi |
A |
G |
18: 3,511,463 (GRCm39) |
T95A |
probably benign |
Het |
Cfap210 |
A |
T |
2: 69,619,806 (GRCm39) |
M1K |
probably null |
Het |
Clrn1 |
T |
C |
3: 58,753,783 (GRCm39) |
T193A |
probably benign |
Het |
Colgalt2 |
T |
A |
1: 152,379,873 (GRCm39) |
D437E |
probably damaging |
Het |
Dchs1 |
C |
A |
7: 105,408,373 (GRCm39) |
A1820S |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,428,073 (GRCm39) |
I233N |
possibly damaging |
Het |
Dsc3 |
T |
C |
18: 20,120,077 (GRCm39) |
N194D |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,102,309 (GRCm39) |
|
probably null |
Het |
Erich3 |
A |
T |
3: 154,401,460 (GRCm39) |
R36S |
probably damaging |
Het |
Fam243 |
T |
A |
16: 92,117,559 (GRCm39) |
E243V |
probably damaging |
Het |
Fmnl3 |
A |
T |
15: 99,219,709 (GRCm39) |
C680S |
probably damaging |
Het |
Focad |
T |
C |
4: 88,275,778 (GRCm39) |
L1129P |
unknown |
Het |
Fzd3 |
G |
A |
14: 65,440,178 (GRCm39) |
T664I |
probably benign |
Het |
Glb1l3 |
T |
C |
9: 26,766,032 (GRCm39) |
I129V |
probably benign |
Het |
Heatr1 |
T |
C |
13: 12,449,352 (GRCm39) |
F1950S |
probably damaging |
Het |
Herc6 |
G |
A |
6: 57,623,188 (GRCm39) |
G597E |
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,286,151 (GRCm39) |
V2101D |
probably damaging |
Het |
Il17re |
T |
A |
6: 113,447,084 (GRCm39) |
C612S |
probably damaging |
Het |
Il36g |
T |
G |
2: 24,082,806 (GRCm39) |
*194E |
probably null |
Het |
Junb |
T |
C |
8: 85,704,505 (GRCm39) |
Y185C |
probably benign |
Het |
Lrriq1 |
G |
A |
10: 103,057,243 (GRCm39) |
Q186* |
probably null |
Het |
Lrrn2 |
T |
A |
1: 132,865,538 (GRCm39) |
V201E |
probably damaging |
Het |
Ly6l |
A |
T |
15: 75,323,027 (GRCm39) |
T68S |
probably benign |
Het |
Marchf1 |
G |
T |
8: 66,839,763 (GRCm39) |
R182L |
possibly damaging |
Het |
Megf6 |
A |
G |
4: 154,333,882 (GRCm39) |
|
probably null |
Het |
Mga |
T |
A |
2: 119,794,793 (GRCm39) |
S2708T |
probably benign |
Het |
Mx1 |
T |
C |
16: 97,252,933 (GRCm39) |
T396A |
probably benign |
Het |
Naip5 |
A |
C |
13: 100,359,209 (GRCm39) |
S676A |
probably benign |
Het |
Npepl1 |
G |
T |
2: 173,963,337 (GRCm39) |
W456C |
probably benign |
Het |
Ntrk2 |
A |
G |
13: 58,956,543 (GRCm39) |
M1V |
probably null |
Het |
Nufip1 |
T |
C |
14: 76,372,340 (GRCm39) |
*485Q |
probably null |
Het |
Ocln |
T |
G |
13: 100,642,687 (GRCm39) |
D216A |
possibly damaging |
Het |
Or10x1 |
A |
T |
1: 174,196,698 (GRCm39) |
T72S |
probably damaging |
Het |
Or1o11 |
C |
T |
17: 37,756,570 (GRCm39) |
L53F |
probably benign |
Het |
Or4f57 |
A |
G |
2: 111,791,175 (GRCm39) |
M81T |
probably damaging |
Het |
Or55b4 |
G |
A |
7: 102,133,586 (GRCm39) |
S247F |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,359,374 (GRCm39) |
M2243K |
probably damaging |
Het |
Rad51b |
C |
T |
12: 79,371,856 (GRCm39) |
Q190* |
probably null |
Het |
Resf1 |
C |
T |
6: 149,228,076 (GRCm39) |
T374I |
probably damaging |
Het |
Rfx8 |
T |
C |
1: 39,727,779 (GRCm39) |
Y182C |
probably benign |
Het |
Rpgrip1l |
C |
A |
8: 91,979,541 (GRCm39) |
R967L |
possibly damaging |
Het |
Sipa1l2 |
A |
T |
8: 126,195,312 (GRCm39) |
Y809N |
probably damaging |
Het |
Slc35f1 |
C |
A |
10: 52,809,317 (GRCm39) |
Y101* |
probably null |
Het |
Tbc1d22a |
A |
G |
15: 86,098,809 (GRCm39) |
K12E |
possibly damaging |
Het |
Tent2 |
T |
C |
13: 93,312,055 (GRCm39) |
D215G |
probably damaging |
Het |
Tmcc2 |
C |
T |
1: 132,285,429 (GRCm39) |
V646M |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,398,587 (GRCm39) |
M243K |
probably damaging |
Het |
Trappc12 |
A |
G |
12: 28,741,513 (GRCm39) |
L732P |
probably damaging |
Het |
U2af2 |
A |
T |
7: 5,082,179 (GRCm39) |
|
probably null |
Het |
Utrn |
T |
A |
10: 12,540,795 (GRCm39) |
N1877Y |
probably damaging |
Het |
Vsir |
C |
T |
10: 60,193,816 (GRCm39) |
T93I |
probably damaging |
Het |
Zkscan5 |
T |
A |
5: 145,142,112 (GRCm39) |
M3K |
possibly damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
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'- TCAAGGAGCCTGAGAAGTACC -3'
(R):5'- AAATGACTGTCAACCATGTGAC -3'
Sequencing Primer
(F):5'- TGTTAAAGACCAGCTGCTGC -3'
(R):5'- ATGACTGTCAACCATGTGACTCATC -3'
|
Posted On |
2017-02-28 |