Incidental Mutation 'R5264:Smoc1'
| ID |
401616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smoc1
|
| Ensembl Gene |
ENSMUSG00000021136 |
| Gene Name |
SPARC related modular calcium binding 1 |
| Synonyms |
2600002F22Rik, SRG, SPARC-related protein |
| MMRRC Submission |
042832-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5264 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81073582-81233188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81151474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 64
(S64T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021564]
[ENSMUST00000110347]
[ENSMUST00000129362]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021564
AA Change: S64T
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000021564
Gene: ENSMUSG00000021136
AA Change: S64T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
KAZAL
|
41 |
86 |
6.91e-8 |
SMART |
|
TY
|
114 |
161 |
8.41e-12 |
SMART |
|
TY
|
247 |
295 |
1.79e-15 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
311 |
423 |
1.6e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110347
AA Change: S64T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105976
Gene: ENSMUSG00000021136
AA Change: S64T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
KAZAL
|
41 |
86 |
6.91e-8 |
SMART |
|
TY
|
114 |
161 |
8.41e-12 |
SMART |
|
TY
|
258 |
306 |
1.79e-15 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
323 |
434 |
2e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129362
AA Change: S64T
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122858
Gene: ENSMUSG00000021136
AA Change: S64T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
KAZAL
|
41 |
86 |
6.91e-8 |
SMART |
|
TY
|
114 |
161 |
8.41e-12 |
SMART |
|
TY
|
247 |
295 |
1.79e-15 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
311 |
423 |
1.5e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.2603 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a transposon-induced allele exhibit ocular and limb defects. Mice homozygous for a knock-out allele exhibit neonatal lethality, osseous syndactyly, decreased body size, and iris and retina coloboma. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ckap2l |
A |
T |
2: 129,127,299 (GRCm39) |
M293K |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Dnai7 |
A |
G |
6: 145,127,502 (GRCm39) |
V469A |
probably benign |
Het |
| Efcab7 |
G |
A |
4: 99,735,372 (GRCm39) |
R132H |
probably benign |
Het |
| Elovl4 |
T |
C |
9: 83,662,817 (GRCm39) |
T239A |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,481,621 (GRCm39) |
D240G |
probably damaging |
Het |
| Fbln5 |
T |
A |
12: 101,723,703 (GRCm39) |
M346L |
possibly damaging |
Het |
| Fbxl21 |
T |
C |
13: 56,680,136 (GRCm39) |
F174L |
probably benign |
Het |
| Gns |
A |
G |
10: 121,216,090 (GRCm39) |
D279G |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,555,265 (GRCm39) |
V2502A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,205,088 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,628,118 (GRCm39) |
I155F |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,357,353 (GRCm39) |
I140V |
probably benign |
Het |
| Mrgprb5 |
G |
A |
7: 47,817,796 (GRCm39) |
S313L |
probably benign |
Het |
| Nectin4 |
A |
T |
1: 171,211,273 (GRCm39) |
T266S |
probably benign |
Het |
| Nsd1 |
C |
T |
13: 55,395,159 (GRCm39) |
A1023V |
possibly damaging |
Het |
| Or51a39 |
T |
C |
7: 102,363,558 (GRCm39) |
T21A |
probably benign |
Het |
| Paqr8 |
A |
G |
1: 21,005,332 (GRCm39) |
H162R |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,726,937 (GRCm39) |
|
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,098,293 (GRCm39) |
D325G |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,361,532 (GRCm39) |
E1255V |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Polr3b |
A |
T |
10: 84,503,280 (GRCm39) |
Q399L |
probably benign |
Het |
| Ppp1r35 |
G |
A |
5: 137,778,286 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,166,377 (GRCm39) |
D919E |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,978,481 (GRCm39) |
T198A |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,564,997 (GRCm39) |
|
probably null |
Het |
| Ptprk |
A |
G |
10: 28,461,582 (GRCm39) |
Y39C |
probably damaging |
Het |
| R3hdm4 |
A |
G |
10: 79,749,175 (GRCm39) |
Y75H |
probably benign |
Het |
| Rsph4a |
A |
G |
10: 33,785,379 (GRCm39) |
Y430C |
probably damaging |
Het |
| Samd12 |
C |
T |
15: 53,723,669 (GRCm39) |
C8Y |
probably damaging |
Het |
| Sema3e |
A |
C |
5: 14,276,662 (GRCm39) |
L314F |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,857,089 (GRCm39) |
F401L |
probably damaging |
Het |
| Socs5 |
T |
A |
17: 87,441,769 (GRCm39) |
H236Q |
probably damaging |
Het |
| Spaca1 |
C |
A |
4: 34,049,863 (GRCm39) |
R45L |
possibly damaging |
Het |
| Spag6 |
A |
G |
2: 18,750,324 (GRCm39) |
K457E |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,116,934 (GRCm39) |
|
probably null |
Het |
| Tcp11l2 |
A |
G |
10: 84,449,524 (GRCm39) |
I496M |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,725,535 (GRCm39) |
I648V |
possibly damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,801,453 (GRCm39) |
Y161C |
probably damaging |
Het |
| Wnt5b |
A |
T |
6: 119,410,813 (GRCm39) |
V171E |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,219 (GRCm39) |
K933E |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,676,198 (GRCm39) |
E373G |
probably damaging |
Het |
| Zfp617 |
A |
G |
8: 72,686,885 (GRCm39) |
Y405C |
probably damaging |
Het |
| Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Smoc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Smoc1
|
APN |
12 |
81,199,525 (GRCm39) |
nonsense |
probably null |
|
|
R1291:Smoc1
|
UTSW |
12 |
81,226,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1902:Smoc1
|
UTSW |
12 |
81,151,445 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2109:Smoc1
|
UTSW |
12 |
81,197,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2567:Smoc1
|
UTSW |
12 |
81,214,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3900:Smoc1
|
UTSW |
12 |
81,214,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4663:Smoc1
|
UTSW |
12 |
81,214,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4762:Smoc1
|
UTSW |
12 |
81,214,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4767:Smoc1
|
UTSW |
12 |
81,151,547 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4836:Smoc1
|
UTSW |
12 |
81,226,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Smoc1
|
UTSW |
12 |
81,214,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5898:Smoc1
|
UTSW |
12 |
81,151,531 (GRCm39) |
nonsense |
probably null |
|
|
R7359:Smoc1
|
UTSW |
12 |
81,197,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7611:Smoc1
|
UTSW |
12 |
81,226,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7655:Smoc1
|
UTSW |
12 |
81,152,682 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7656:Smoc1
|
UTSW |
12 |
81,152,682 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8175:Smoc1
|
UTSW |
12 |
81,214,440 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8723:Smoc1
|
UTSW |
12 |
81,182,586 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8985:Smoc1
|
UTSW |
12 |
81,226,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9306:Smoc1
|
UTSW |
12 |
81,214,430 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
V8831:Smoc1
|
UTSW |
12 |
81,215,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Smoc1
|
UTSW |
12 |
81,073,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTATAAGTCATGGGTCTCTCC -3'
(R):5'- ACTGGTGGCAGTGTCTGAAG -3'
Sequencing Primer
(F):5'- CCTAATAAGTGACCGTGACC -3'
(R):5'- TCTGAAGATCAGGGAAGTGTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation