Incidental Mutation 'R6387:Sparcl1'
| ID |
514649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sparcl1
|
| Ensembl Gene |
ENSMUSG00000029309 |
| Gene Name |
SPARC-like 1 |
| Synonyms |
hevin, Ecm2, mast9, Sc1 |
| MMRRC Submission |
044536-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6387 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104226977-104261599 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104232926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 625
(D625V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031249]
|
| AlphaFold |
P70663 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031249
AA Change: D625V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031249
Gene: ENSMUSG00000029309
AA Change: D625V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
381 |
N/A |
INTRINSIC |
|
FOLN
|
418 |
441 |
2.33e-5 |
SMART |
|
KAZAL
|
441 |
495 |
3.62e-11 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
498 |
636 |
2.8e-44 |
PFAM |
|
| Meta Mutation Damage Score |
0.9641 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal histology and survival. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted(1) Gene trapped(4)
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
C |
5: 109,884,881 (GRCm39) |
K326E |
possibly damaging |
Het |
| Acot1 |
A |
G |
12: 84,056,627 (GRCm39) |
D115G |
probably benign |
Het |
| Adm |
T |
C |
7: 110,227,502 (GRCm39) |
I6T |
possibly damaging |
Het |
| Ahi1 |
A |
G |
10: 20,844,942 (GRCm39) |
Y349C |
probably damaging |
Het |
| Aldh1a1 |
A |
G |
19: 20,595,323 (GRCm39) |
E84G |
probably damaging |
Het |
| Ankrd31 |
A |
G |
13: 96,967,081 (GRCm39) |
D520G |
probably damaging |
Het |
| Ano4 |
A |
T |
10: 88,807,267 (GRCm39) |
Y736* |
probably null |
Het |
| Atp6v1a |
A |
G |
16: 43,907,806 (GRCm39) |
F612S |
possibly damaging |
Het |
| Bltp3b |
C |
T |
10: 89,638,919 (GRCm39) |
Q442* |
probably null |
Het |
| Calcb |
G |
A |
7: 114,319,025 (GRCm39) |
V17I |
possibly damaging |
Het |
| Cfap70 |
C |
T |
14: 20,498,643 (GRCm39) |
V15M |
probably damaging |
Het |
| Chad |
C |
T |
11: 94,458,663 (GRCm39) |
H271Y |
possibly damaging |
Het |
| Csgalnact1 |
C |
T |
8: 68,811,365 (GRCm39) |
G435D |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Eprs1 |
T |
A |
1: 185,119,281 (GRCm39) |
M487K |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,037,934 (GRCm39) |
E3862G |
probably damaging |
Het |
| Gdf10 |
T |
A |
14: 33,645,961 (GRCm39) |
S37T |
probably benign |
Het |
| Hhatl |
T |
A |
9: 121,619,467 (GRCm39) |
H39L |
probably benign |
Het |
| Icam4 |
A |
C |
9: 20,941,505 (GRCm39) |
S215R |
possibly damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,280 (GRCm39) |
E108G |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,744,920 (GRCm39) |
I416T |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,959,504 (GRCm39) |
*577L |
probably null |
Het |
| Mark2 |
A |
G |
19: 7,263,267 (GRCm39) |
F167L |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,299,946 (GRCm39) |
T351A |
possibly damaging |
Het |
| Mrps27 |
A |
G |
13: 99,536,825 (GRCm39) |
I113V |
possibly damaging |
Het |
| Numbl |
C |
T |
7: 26,976,115 (GRCm39) |
T265I |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,468,006 (GRCm39) |
A1296T |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,912,148 (GRCm39) |
I125T |
probably damaging |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,385 (GRCm39) |
I505V |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,891,291 (GRCm39) |
F269L |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,516,679 (GRCm39) |
V1018I |
probably benign |
Het |
| Prl4a1 |
T |
A |
13: 28,202,482 (GRCm39) |
V19E |
possibly damaging |
Het |
| Ptpn22 |
A |
G |
3: 103,792,702 (GRCm39) |
D327G |
probably benign |
Het |
| Smad3 |
G |
T |
9: 63,562,047 (GRCm39) |
D310E |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,058,899 (GRCm39) |
A1945T |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Sympk |
T |
C |
7: 18,786,423 (GRCm39) |
Y1009H |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,752,825 (GRCm39) |
F1026L |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,365,554 (GRCm39) |
K144* |
probably null |
Het |
| Unk |
A |
G |
11: 115,945,766 (GRCm39) |
N479S |
possibly damaging |
Het |
| Zfp710 |
T |
C |
7: 79,735,775 (GRCm39) |
I514T |
probably damaging |
Het |
| Zfp993 |
A |
G |
4: 146,741,975 (GRCm39) |
T100A |
probably damaging |
Het |
|
| Other mutations in Sparcl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00653:Sparcl1
|
APN |
5 |
104,240,788 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01291:Sparcl1
|
APN |
5 |
104,242,581 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01958:Sparcl1
|
APN |
5 |
104,240,406 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02749:Sparcl1
|
APN |
5 |
104,240,746 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL03034:Sparcl1
|
APN |
5 |
104,241,103 (GRCm39) |
missense |
probably damaging |
0.96 |
|
ANU05:Sparcl1
|
UTSW |
5 |
104,242,581 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0007:Sparcl1
|
UTSW |
5 |
104,234,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0007:Sparcl1
|
UTSW |
5 |
104,234,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Sparcl1
|
UTSW |
5 |
104,233,707 (GRCm39) |
nonsense |
probably null |
|
|
R0071:Sparcl1
|
UTSW |
5 |
104,233,707 (GRCm39) |
nonsense |
probably null |
|
|
R0278:Sparcl1
|
UTSW |
5 |
104,236,263 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0360:Sparcl1
|
UTSW |
5 |
104,237,503 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0581:Sparcl1
|
UTSW |
5 |
104,241,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1755:Sparcl1
|
UTSW |
5 |
104,240,690 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1807:Sparcl1
|
UTSW |
5 |
104,233,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Sparcl1
|
UTSW |
5 |
104,241,220 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2110:Sparcl1
|
UTSW |
5 |
104,236,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Sparcl1
|
UTSW |
5 |
104,236,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2331:Sparcl1
|
UTSW |
5 |
104,233,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Sparcl1
|
UTSW |
5 |
104,232,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3029:Sparcl1
|
UTSW |
5 |
104,241,092 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3104:Sparcl1
|
UTSW |
5 |
104,241,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3106:Sparcl1
|
UTSW |
5 |
104,241,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3979:Sparcl1
|
UTSW |
5 |
104,240,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4772:Sparcl1
|
UTSW |
5 |
104,236,356 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4967:Sparcl1
|
UTSW |
5 |
104,240,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Sparcl1
|
UTSW |
5 |
104,233,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Sparcl1
|
UTSW |
5 |
104,233,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5105:Sparcl1
|
UTSW |
5 |
104,233,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5140:Sparcl1
|
UTSW |
5 |
104,233,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5149:Sparcl1
|
UTSW |
5 |
104,233,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Sparcl1
|
UTSW |
5 |
104,233,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6544:Sparcl1
|
UTSW |
5 |
104,240,310 (GRCm39) |
nonsense |
probably null |
|
|
R6930:Sparcl1
|
UTSW |
5 |
104,234,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7246:Sparcl1
|
UTSW |
5 |
104,233,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8490:Sparcl1
|
UTSW |
5 |
104,233,574 (GRCm39) |
missense |
probably null |
1.00 |
|
R8860:Sparcl1
|
UTSW |
5 |
104,241,218 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8899:Sparcl1
|
UTSW |
5 |
104,240,590 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9047:Sparcl1
|
UTSW |
5 |
104,240,979 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9215:Sparcl1
|
UTSW |
5 |
104,240,701 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9284:Sparcl1
|
UTSW |
5 |
104,236,345 (GRCm39) |
nonsense |
probably null |
|
|
R9424:Sparcl1
|
UTSW |
5 |
104,241,030 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9622:Sparcl1
|
UTSW |
5 |
104,234,998 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCCAAACGTGAACACATG -3'
(R):5'- GCCCACACAGTGACTTTGTAG -3'
Sequencing Primer
(F):5'- TGCACACACTCACTCATGC -3'
(R):5'- CAGTGACTTTGTAGAAGGGAATCTCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation