Incidental Mutation 'R0007:Sparcl1'
ID |
212462 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sparcl1
|
Ensembl Gene |
ENSMUSG00000029309 |
Gene Name |
SPARC-like 1 |
Synonyms |
hevin, Ecm2, mast9, Sc1 |
MMRRC Submission |
038302-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0007 (G1)
|
Quality Score |
20 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
104226977-104261599 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104234946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 523
(Q523L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031249]
|
AlphaFold |
P70663 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031249
AA Change: Q523L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031249 Gene: ENSMUSG00000029309 AA Change: Q523L
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 |
0.6706 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.5%
|
Validation Efficiency |
100% (38/38) |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
T |
17: 36,270,562 (GRCm39) |
Y543N |
probably damaging |
Het |
Adgrb3 |
C |
A |
1: 25,150,772 (GRCm39) |
|
probably null |
Het |
AI504432 |
T |
A |
3: 106,956,152 (GRCm39) |
|
noncoding transcript |
Het |
Cd82 |
T |
C |
2: 93,264,226 (GRCm39) |
N39S |
probably benign |
Het |
Cntnap2 |
A |
C |
6: 45,969,007 (GRCm39) |
N250H |
possibly damaging |
Het |
Col7a1 |
T |
C |
9: 108,790,471 (GRCm39) |
V973A |
unknown |
Het |
Cyp2c66 |
T |
A |
19: 39,159,402 (GRCm39) |
C284* |
probably null |
Het |
Denr |
T |
A |
5: 124,062,877 (GRCm39) |
Y127N |
probably damaging |
Het |
Diaph3 |
C |
A |
14: 87,104,056 (GRCm39) |
R776L |
possibly damaging |
Het |
Gm5600 |
T |
A |
7: 113,307,010 (GRCm39) |
|
noncoding transcript |
Het |
Hephl1 |
A |
T |
9: 14,997,471 (GRCm39) |
D398E |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,630,938 (GRCm39) |
|
probably benign |
Het |
Mtrr |
A |
T |
13: 68,723,449 (GRCm39) |
F154L |
probably benign |
Het |
Myo1b |
T |
A |
1: 51,815,413 (GRCm39) |
R650S |
probably damaging |
Het |
Nek10 |
T |
A |
14: 14,840,574 (GRCm38) |
H153Q |
probably benign |
Het |
Nelfe |
A |
G |
17: 35,072,962 (GRCm39) |
|
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,250,515 (GRCm39) |
|
probably benign |
Het |
Nos1 |
T |
C |
5: 118,048,153 (GRCm39) |
S653P |
probably damaging |
Het |
Or5p76 |
A |
G |
7: 108,122,420 (GRCm39) |
S246P |
probably damaging |
Het |
Or8b101 |
A |
T |
9: 38,020,390 (GRCm39) |
Y131F |
possibly damaging |
Het |
Pcsk5 |
C |
A |
19: 17,632,225 (GRCm39) |
G314C |
probably damaging |
Het |
Ralgps1 |
A |
G |
2: 33,033,401 (GRCm39) |
S393P |
probably damaging |
Het |
Slc44a4 |
G |
A |
17: 35,140,230 (GRCm39) |
A60T |
probably damaging |
Het |
Slc4a4 |
G |
A |
5: 89,186,437 (GRCm39) |
D173N |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,806,473 (GRCm39) |
Y63H |
probably damaging |
Het |
Trim16 |
A |
G |
11: 62,719,944 (GRCm39) |
M84V |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,964,893 (GRCm39) |
A1453T |
probably benign |
Het |
Ttn |
C |
T |
2: 76,710,548 (GRCm39) |
|
probably benign |
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 |
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 |
R6387:Sparcl1
|
UTSW |
5 |
104,232,926 (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'- AGGCTTTCTCTGCCAAGCAGTG -3'
(R):5'- TGGGGCTCAACAACAACCAGAGTG -3'
Sequencing Primer
(F):5'- TGCCAAGCAGTGCTCCTAC -3'
(R):5'- tgtttgtttgtttgtttgtttgtttg -3'
|
Posted On |
2014-07-03 |