Incidental Mutation 'R3029:Sparcl1'
ID |
265903 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sparcl1
|
Ensembl Gene |
ENSMUSG00000029309 |
Gene Name |
SPARC-like 1 |
Synonyms |
hevin, Ecm2, mast9, Sc1 |
MMRRC Submission |
040545-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3029 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
104226977-104261599 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104241092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 111
(T111A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031249]
[ENSMUST00000199947]
|
AlphaFold |
P70663 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031249
AA Change: T111A
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000031249 Gene: ENSMUSG00000029309 AA Change: T111A
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199947
AA Change: T111A
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143177 Gene: ENSMUSG00000029309 AA Change: T111A
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
A |
G |
1: 85,645,966 (GRCm39) |
I213T |
probably benign |
Het |
Atp8a2 |
CGT |
CGTGT |
14: 59,928,914 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cdk6 |
G |
A |
5: 3,440,817 (GRCm39) |
|
probably null |
Het |
Cryab |
T |
A |
9: 50,667,638 (GRCm39) |
I124N |
probably damaging |
Het |
E2f5 |
A |
G |
3: 14,668,725 (GRCm39) |
I206V |
probably benign |
Het |
Eya4 |
T |
C |
10: 22,999,776 (GRCm39) |
T396A |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,175,535 (GRCm39) |
Y1726C |
probably damaging |
Het |
Gad1 |
G |
A |
2: 70,425,034 (GRCm39) |
V443I |
probably benign |
Het |
H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
Itgad |
T |
A |
7: 127,777,543 (GRCm39) |
I141N |
possibly damaging |
Het |
Kcnh1 |
C |
T |
1: 192,188,368 (GRCm39) |
T970M |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nlrp1a |
T |
A |
11: 71,014,456 (GRCm39) |
T265S |
probably damaging |
Het |
Nsun4 |
A |
G |
4: 115,909,922 (GRCm39) |
S213P |
possibly damaging |
Het |
Pkdrej |
C |
T |
15: 85,701,205 (GRCm39) |
R1577Q |
probably benign |
Het |
Proz |
A |
T |
8: 13,111,042 (GRCm39) |
I5F |
probably benign |
Het |
Rbm48 |
A |
T |
5: 3,646,043 (GRCm39) |
F54I |
possibly damaging |
Het |
Rgs20 |
T |
C |
1: 5,140,276 (GRCm39) |
D42G |
probably benign |
Het |
Rxfp2 |
A |
C |
5: 149,966,595 (GRCm39) |
D111A |
probably benign |
Het |
Vmn2r14 |
T |
A |
5: 109,363,776 (GRCm39) |
L713F |
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 |
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'- TGCTGGTGTGAGTCACTTAC -3'
(R):5'- CTAACCCTGTGCTCTAGAATGG -3'
Sequencing Primer
(F):5'- GTGAGTCACTTACAGGTTGCTCC -3'
(R):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'
|
Posted On |
2015-02-05 |