Incidental Mutation 'R1735:Scube1'
ID |
199677 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scube1
|
Ensembl Gene |
ENSMUSG00000016763 |
Gene Name |
signal peptide, CUB domain, EGF-like 1 |
Synonyms |
7330410C13Rik, A630023E24Rik |
MMRRC Submission |
039767-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R1735 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
83489200-83609222 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83491638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 952
(H952R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130131
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016907]
[ENSMUST00000043634]
[ENSMUST00000076060]
[ENSMUST00000171496]
|
AlphaFold |
Q6NZL8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016907
AA Change: H982R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000016907 Gene: ENSMUSG00000016763 AA Change: H982R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
EGF_CA
|
33 |
73 |
1.5e-9 |
SMART |
EGF_CA
|
74 |
116 |
7.29e-8 |
SMART |
EGF_CA
|
117 |
157 |
1.4e-9 |
SMART |
EGF
|
165 |
203 |
1.43e-1 |
SMART |
EGF
|
205 |
242 |
1.09e1 |
SMART |
EGF
|
274 |
311 |
1.69e-3 |
SMART |
EGF_CA
|
312 |
352 |
2.13e-9 |
SMART |
EGF_CA
|
353 |
391 |
4.7e-11 |
SMART |
EGF_CA
|
392 |
432 |
3.91e-8 |
SMART |
low complexity region
|
560 |
573 |
N/A |
INTRINSIC |
Pfam:GCC2_GCC3
|
666 |
713 |
4.5e-13 |
PFAM |
EGF_like
|
766 |
804 |
6.81e1 |
SMART |
CUB
|
828 |
940 |
1.51e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043634
AA Change: H871R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044835 Gene: ENSMUSG00000016763 AA Change: H871R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
EGF_CA
|
33 |
73 |
1.5e-9 |
SMART |
EGF_CA
|
74 |
116 |
7.29e-8 |
SMART |
EGF_CA
|
117 |
157 |
1.4e-9 |
SMART |
EGF
|
163 |
200 |
1.69e-3 |
SMART |
EGF_CA
|
201 |
241 |
2.13e-9 |
SMART |
EGF_CA
|
242 |
280 |
4.7e-11 |
SMART |
EGF_CA
|
281 |
321 |
3.91e-8 |
SMART |
low complexity region
|
449 |
462 |
N/A |
INTRINSIC |
Pfam:GCC2_GCC3
|
555 |
602 |
3.2e-11 |
PFAM |
EGF_like
|
655 |
693 |
6.81e1 |
SMART |
CUB
|
717 |
829 |
1.51e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076060
AA Change: H956R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000075434 Gene: ENSMUSG00000016763 AA Change: H956R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
EGF_CA
|
33 |
73 |
1.5e-9 |
SMART |
EGF_CA
|
74 |
116 |
7.29e-8 |
SMART |
EGF_CA
|
117 |
157 |
1.4e-9 |
SMART |
EGF
|
165 |
203 |
1.43e-1 |
SMART |
EGF
|
205 |
242 |
1.09e1 |
SMART |
EGF
|
244 |
281 |
1.69e-3 |
SMART |
EGF_CA
|
282 |
322 |
2.13e-9 |
SMART |
EGF_CA
|
323 |
361 |
4.7e-11 |
SMART |
EGF_CA
|
362 |
402 |
3.91e-8 |
SMART |
low complexity region
|
530 |
543 |
N/A |
INTRINSIC |
Pfam:GCC2_GCC3
|
636 |
683 |
1.3e-11 |
PFAM |
EGF_like
|
736 |
774 |
6.81e1 |
SMART |
CUB
|
798 |
910 |
1.51e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144773
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171496
AA Change: H952R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130131 Gene: ENSMUSG00000016763 AA Change: H952R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
EGF_CA
|
33 |
73 |
1.5e-9 |
SMART |
EGF_CA
|
74 |
116 |
7.29e-8 |
SMART |
EGF_CA
|
117 |
157 |
1.4e-9 |
SMART |
EGF
|
165 |
203 |
1.43e-1 |
SMART |
EGF
|
205 |
242 |
1.09e1 |
SMART |
EGF
|
244 |
281 |
1.69e-3 |
SMART |
EGF_CA
|
282 |
322 |
2.13e-9 |
SMART |
EGF_CA
|
323 |
361 |
4.7e-11 |
SMART |
EGF_CA
|
362 |
402 |
3.91e-8 |
SMART |
low complexity region
|
530 |
543 |
N/A |
INTRINSIC |
Pfam:GCC2_GCC3
|
636 |
683 |
1.7e-11 |
PFAM |
EGF_like
|
736 |
774 |
6.81e1 |
SMART |
CUB
|
798 |
910 |
1.51e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230060
|
Coding Region Coverage |
- 1x: 97.6%
- 3x: 97.0%
- 10x: 95.3%
- 20x: 92.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011] PHENOTYPE: A fraction of homozygotes die neonatally with acrania and loss of brain tissue. Early skull bone defects include lack of the interparietal and supraoccipital bones and cranial vault. Affected mutant embryos show exencephaly, a thick-walled forebrain neuroepithelium and hyperplastic cranial ganglia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
A |
T |
12: 84,122,261 (GRCm39) |
I282F |
probably benign |
Het |
Adam19 |
C |
A |
11: 46,029,744 (GRCm39) |
Q730K |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,636,066 (GRCm39) |
V3481A |
possibly damaging |
Het |
Akr1c20 |
T |
C |
13: 4,537,207 (GRCm39) |
D316G |
probably benign |
Het |
Ap3b1 |
G |
A |
13: 94,630,225 (GRCm39) |
V827I |
unknown |
Het |
Aph1a |
T |
A |
3: 95,802,821 (GRCm39) |
D140E |
probably damaging |
Het |
Arhgef19 |
G |
T |
4: 140,976,929 (GRCm39) |
V502L |
possibly damaging |
Het |
Arl9 |
T |
C |
5: 77,154,473 (GRCm39) |
F67S |
probably damaging |
Het |
B430305J03Rik |
G |
A |
3: 61,271,361 (GRCm39) |
|
probably benign |
Het |
B4galnt2 |
A |
G |
11: 95,781,809 (GRCm39) |
F119L |
probably damaging |
Het |
Bcap29 |
T |
A |
12: 31,680,839 (GRCm39) |
N49I |
probably damaging |
Het |
Capn11 |
T |
A |
17: 45,943,327 (GRCm39) |
K616* |
probably null |
Het |
Cdh12 |
T |
A |
15: 21,520,452 (GRCm39) |
Y306N |
probably damaging |
Het |
Cep350 |
T |
A |
1: 155,828,960 (GRCm39) |
N315Y |
probably damaging |
Het |
Cfap300 |
A |
C |
9: 8,027,266 (GRCm39) |
S91A |
probably benign |
Het |
Cited2 |
C |
A |
10: 17,599,794 (GRCm39) |
P34Q |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,226,297 (GRCm39) |
D2930E |
probably benign |
Het |
Cog3 |
T |
A |
14: 75,966,761 (GRCm39) |
K470* |
probably null |
Het |
Commd10 |
A |
G |
18: 47,123,552 (GRCm39) |
T136A |
probably benign |
Het |
Csf2ra |
C |
A |
19: 61,214,782 (GRCm39) |
D181Y |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 15,982,610 (GRCm39) |
I2686F |
probably damaging |
Het |
Dhx29 |
T |
C |
13: 113,081,620 (GRCm39) |
S415P |
probably benign |
Het |
Dsel |
A |
T |
1: 111,788,645 (GRCm39) |
F630Y |
probably damaging |
Het |
Ell |
T |
A |
8: 71,031,590 (GRCm39) |
I96N |
possibly damaging |
Het |
Ephx2 |
T |
A |
14: 66,325,752 (GRCm39) |
I358L |
probably benign |
Het |
Fam162b |
A |
G |
10: 51,463,307 (GRCm39) |
I120T |
probably damaging |
Het |
Fam187a |
T |
C |
11: 102,776,606 (GRCm39) |
Y137H |
probably damaging |
Het |
Fastk |
T |
C |
5: 24,646,801 (GRCm39) |
E403G |
probably damaging |
Het |
Fcrlb |
C |
A |
1: 170,734,901 (GRCm39) |
V409F |
probably benign |
Het |
Flot2 |
G |
T |
11: 77,948,831 (GRCm39) |
A269S |
probably benign |
Het |
Gpd2 |
T |
A |
2: 57,245,563 (GRCm39) |
N419K |
probably damaging |
Het |
Hecw1 |
A |
T |
13: 14,552,350 (GRCm39) |
M61K |
probably null |
Het |
Htr2a |
T |
C |
14: 74,943,568 (GRCm39) |
F383L |
probably damaging |
Het |
Kctd6 |
C |
T |
14: 8,222,253 (GRCm38) |
R32C |
probably damaging |
Het |
Khdc1a |
A |
G |
1: 21,421,189 (GRCm39) |
T125A |
probably benign |
Het |
Klhl40 |
T |
C |
9: 121,609,004 (GRCm39) |
S390P |
probably benign |
Het |
Lonp1 |
G |
A |
17: 56,921,956 (GRCm39) |
T808I |
probably damaging |
Het |
Loxhd1 |
A |
C |
18: 77,492,585 (GRCm39) |
D1342A |
probably damaging |
Het |
Lrat |
T |
C |
3: 82,804,417 (GRCm39) |
I187V |
probably benign |
Het |
Lrif1 |
T |
C |
3: 106,643,162 (GRCm39) |
*238Q |
probably null |
Het |
Lrp2bp |
T |
C |
8: 46,465,025 (GRCm39) |
F48S |
probably benign |
Het |
Mafg |
A |
G |
11: 120,520,504 (GRCm39) |
M32T |
possibly damaging |
Het |
Map4 |
C |
T |
9: 109,864,023 (GRCm39) |
T416I |
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,965,659 (GRCm39) |
F1236S |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,810,466 (GRCm39) |
D414G |
probably damaging |
Het |
Nhsl3 |
G |
T |
4: 129,117,370 (GRCm39) |
S476R |
probably damaging |
Het |
Nrip2 |
T |
G |
6: 128,382,037 (GRCm39) |
V50G |
probably damaging |
Het |
Or10aa3 |
A |
T |
1: 173,878,365 (GRCm39) |
K142I |
probably benign |
Het |
Or10j5 |
A |
G |
1: 172,784,374 (GRCm39) |
N4S |
probably benign |
Het |
Or52ae7 |
T |
A |
7: 103,119,353 (GRCm39) |
F36I |
possibly damaging |
Het |
Or5b24 |
T |
A |
19: 12,912,207 (GRCm39) |
I35N |
probably damaging |
Het |
Pcdhb18 |
A |
T |
18: 37,623,822 (GRCm39) |
H384L |
probably benign |
Het |
Pik3r1 |
A |
T |
13: 101,822,882 (GRCm39) |
Y607N |
probably damaging |
Het |
Plagl2 |
G |
A |
2: 153,074,397 (GRCm39) |
T168I |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,633,222 (GRCm39) |
S912P |
probably damaging |
Het |
Ppp1r16b |
A |
G |
2: 158,603,415 (GRCm39) |
K447E |
possibly damaging |
Het |
Prkd1 |
T |
C |
12: 50,388,822 (GRCm39) |
E907G |
possibly damaging |
Het |
Rabep2 |
A |
G |
7: 126,043,712 (GRCm39) |
R470G |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 157,001,730 (GRCm39) |
Y518C |
probably damaging |
Het |
Rbmxl1 |
A |
G |
8: 79,232,711 (GRCm39) |
Y211H |
probably damaging |
Het |
Rdh7 |
T |
C |
10: 127,720,454 (GRCm39) |
Y306C |
probably benign |
Het |
Rtn3 |
T |
C |
19: 7,435,276 (GRCm39) |
I220V |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,913,742 (GRCm39) |
N1045D |
possibly damaging |
Het |
Sf3b1 |
A |
G |
1: 55,039,811 (GRCm39) |
I690T |
probably damaging |
Het |
Sharpin |
T |
C |
15: 76,232,136 (GRCm39) |
K240R |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,420,656 (GRCm39) |
I1108T |
unknown |
Het |
Snip1 |
A |
G |
4: 124,964,994 (GRCm39) |
D133G |
probably benign |
Het |
St3gal3 |
T |
C |
4: 117,871,971 (GRCm39) |
Y77C |
probably damaging |
Het |
Sytl3 |
T |
C |
17: 6,982,880 (GRCm39) |
V112A |
probably benign |
Het |
Tnxb |
C |
T |
17: 34,936,944 (GRCm39) |
P3718S |
probably damaging |
Het |
Ttc24 |
A |
T |
3: 87,980,401 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
T |
2: 69,839,473 (GRCm39) |
E1529V |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,585,882 (GRCm39) |
H965L |
probably benign |
Het |
Xrn2 |
T |
A |
2: 146,903,343 (GRCm39) |
L781Q |
probably damaging |
Het |
Zbtb11 |
T |
C |
16: 55,811,045 (GRCm39) |
I401T |
probably benign |
Het |
Zc3h14 |
C |
T |
12: 98,724,839 (GRCm39) |
P167L |
probably damaging |
Het |
Zfp609 |
G |
T |
9: 65,610,374 (GRCm39) |
S863* |
probably null |
Het |
|
Other mutations in Scube1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00903:Scube1
|
APN |
15 |
83,587,702 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01152:Scube1
|
APN |
15 |
83,497,771 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01388:Scube1
|
APN |
15 |
83,504,332 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01589:Scube1
|
APN |
15 |
83,496,754 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02208:Scube1
|
APN |
15 |
83,587,741 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02305:Scube1
|
APN |
15 |
83,491,591 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02728:Scube1
|
APN |
15 |
83,543,217 (GRCm39) |
splice site |
probably benign |
|
IGL02737:Scube1
|
APN |
15 |
83,606,044 (GRCm39) |
splice site |
probably benign |
|
IGL03326:Scube1
|
APN |
15 |
83,491,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Scube1
|
UTSW |
15 |
83,518,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Scube1
|
UTSW |
15 |
83,518,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R0126:Scube1
|
UTSW |
15 |
83,505,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R0792:Scube1
|
UTSW |
15 |
83,512,277 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1438:Scube1
|
UTSW |
15 |
83,499,227 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1522:Scube1
|
UTSW |
15 |
83,512,277 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1766:Scube1
|
UTSW |
15 |
83,606,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R1778:Scube1
|
UTSW |
15 |
83,494,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R2975:Scube1
|
UTSW |
15 |
83,543,299 (GRCm39) |
missense |
probably damaging |
0.99 |
R4080:Scube1
|
UTSW |
15 |
83,492,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R4434:Scube1
|
UTSW |
15 |
83,606,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R5585:Scube1
|
UTSW |
15 |
83,561,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R5857:Scube1
|
UTSW |
15 |
83,491,461 (GRCm39) |
unclassified |
probably benign |
|
R5977:Scube1
|
UTSW |
15 |
83,513,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R6054:Scube1
|
UTSW |
15 |
83,535,877 (GRCm39) |
missense |
probably benign |
0.43 |
R6461:Scube1
|
UTSW |
15 |
83,496,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R6956:Scube1
|
UTSW |
15 |
83,606,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R6959:Scube1
|
UTSW |
15 |
83,513,636 (GRCm39) |
missense |
probably benign |
0.42 |
R7124:Scube1
|
UTSW |
15 |
83,513,712 (GRCm39) |
splice site |
probably null |
|
R7267:Scube1
|
UTSW |
15 |
83,505,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R7404:Scube1
|
UTSW |
15 |
83,499,211 (GRCm39) |
missense |
probably damaging |
0.98 |
R7584:Scube1
|
UTSW |
15 |
83,606,088 (GRCm39) |
nonsense |
probably null |
|
R7585:Scube1
|
UTSW |
15 |
83,522,988 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7599:Scube1
|
UTSW |
15 |
83,497,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R8055:Scube1
|
UTSW |
15 |
83,543,226 (GRCm39) |
critical splice donor site |
probably null |
|
R8098:Scube1
|
UTSW |
15 |
83,543,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R8192:Scube1
|
UTSW |
15 |
83,513,583 (GRCm39) |
critical splice donor site |
probably null |
|
R8394:Scube1
|
UTSW |
15 |
83,492,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R8441:Scube1
|
UTSW |
15 |
83,494,423 (GRCm39) |
missense |
probably damaging |
0.99 |
R8713:Scube1
|
UTSW |
15 |
83,494,471 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8844:Scube1
|
UTSW |
15 |
83,561,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R9090:Scube1
|
UTSW |
15 |
83,494,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R9169:Scube1
|
UTSW |
15 |
83,543,298 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9271:Scube1
|
UTSW |
15 |
83,494,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R9334:Scube1
|
UTSW |
15 |
83,512,264 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9363:Scube1
|
UTSW |
15 |
83,499,080 (GRCm39) |
nonsense |
probably null |
|
R9534:Scube1
|
UTSW |
15 |
83,606,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R9569:Scube1
|
UTSW |
15 |
83,513,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R9574:Scube1
|
UTSW |
15 |
83,501,000 (GRCm39) |
missense |
|
|
R9759:Scube1
|
UTSW |
15 |
83,492,465 (GRCm39) |
missense |
probably benign |
0.02 |
R9788:Scube1
|
UTSW |
15 |
83,535,901 (GRCm39) |
missense |
possibly damaging |
0.73 |
X0022:Scube1
|
UTSW |
15 |
83,518,870 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Scube1
|
UTSW |
15 |
83,496,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGTGAAGGGAAGGCACATTC -3'
(R):5'- TGTAGTGGACACTGGCTCATCCTC -3'
Sequencing Primer
(F):5'- GGAAGGCACATTCCCCTC -3'
(R):5'- CTCATCCTCTGGATGGCAGTAG -3'
|
Posted On |
2014-05-23 |