Incidental Mutation 'R0581:Sparcl1'
ID |
56418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sparcl1
|
Ensembl Gene |
ENSMUSG00000029309 |
Gene Name |
SPARC-like 1 |
Synonyms |
hevin, Ecm2, mast9, Sc1 |
MMRRC Submission |
038771-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0581 (G1)
|
Quality Score |
136 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
104226977-104261599 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104241178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 82
(D82G)
|
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: D82G
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000031249 Gene: ENSMUSG00000029309 AA Change: D82G
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 |
probably damaging
Transcript: ENSMUST00000199947
AA Change: D82G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143177 Gene: ENSMUSG00000029309 AA Change: D82G
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
Validation Efficiency |
95% (42/44) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
A |
G |
5: 4,100,620 (GRCm39) |
T2761A |
probably benign |
Het |
Apold1 |
G |
A |
6: 134,960,776 (GRCm39) |
V77I |
probably benign |
Het |
Atad2 |
T |
C |
15: 57,990,060 (GRCm39) |
T139A |
probably benign |
Het |
Cacna1a |
A |
T |
8: 85,328,565 (GRCm39) |
I1668F |
possibly damaging |
Het |
Ccer2 |
T |
A |
7: 28,456,451 (GRCm39) |
|
probably benign |
Het |
Cyp2c54 |
T |
A |
19: 40,035,999 (GRCm39) |
T304S |
probably benign |
Het |
Dpp4 |
T |
A |
2: 62,187,020 (GRCm39) |
M497L |
probably benign |
Het |
Evpl |
T |
A |
11: 116,120,316 (GRCm39) |
I541L |
probably benign |
Het |
Ggn |
A |
G |
7: 28,871,729 (GRCm39) |
T370A |
probably benign |
Het |
Ghr |
A |
G |
15: 3,418,116 (GRCm39) |
|
probably benign |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Gpr68 |
G |
C |
12: 100,844,815 (GRCm39) |
P243R |
probably damaging |
Het |
Gtf3c2 |
G |
T |
5: 31,316,862 (GRCm39) |
Y720* |
probably null |
Het |
Il2rb |
T |
A |
15: 78,366,136 (GRCm39) |
Y387F |
possibly damaging |
Het |
Kcnu1 |
T |
A |
8: 26,427,529 (GRCm39) |
V282E |
probably damaging |
Het |
Krt222 |
G |
A |
11: 99,127,018 (GRCm39) |
Q201* |
probably null |
Het |
Lats1 |
A |
G |
10: 7,578,705 (GRCm39) |
T610A |
possibly damaging |
Het |
Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
Myh7 |
T |
C |
14: 55,222,953 (GRCm39) |
I751V |
probably benign |
Het |
Mypn |
A |
G |
10: 62,998,023 (GRCm39) |
I429T |
probably benign |
Het |
Nemf |
A |
T |
12: 69,369,045 (GRCm39) |
D723E |
probably benign |
Het |
Nlrp4b |
T |
C |
7: 10,448,457 (GRCm39) |
L220P |
probably damaging |
Het |
Npr3 |
T |
A |
15: 11,851,536 (GRCm39) |
D418V |
probably damaging |
Het |
Nsd3 |
A |
G |
8: 26,200,718 (GRCm39) |
N1270S |
probably damaging |
Het |
Or1j15 |
T |
C |
2: 36,458,834 (GRCm39) |
S75P |
probably damaging |
Het |
Or2g1 |
A |
G |
17: 38,106,993 (GRCm39) |
I219M |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,624,901 (GRCm39) |
T1579I |
possibly damaging |
Het |
Pkp2 |
T |
A |
16: 16,087,647 (GRCm39) |
|
probably benign |
Het |
Psd3 |
T |
C |
8: 68,173,598 (GRCm39) |
Y301C |
probably damaging |
Het |
Psmb4 |
T |
C |
3: 94,793,479 (GRCm39) |
H134R |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,334,881 (GRCm39) |
T1043A |
probably benign |
Het |
Sec14l5 |
T |
A |
16: 4,996,349 (GRCm39) |
|
probably null |
Het |
Serpina12 |
T |
A |
12: 103,997,399 (GRCm39) |
Q374L |
probably damaging |
Het |
Serpinb10 |
C |
T |
1: 107,474,692 (GRCm39) |
R362* |
probably null |
Het |
Sorcs1 |
T |
A |
19: 50,241,139 (GRCm39) |
I416F |
possibly damaging |
Het |
Stat6 |
A |
T |
10: 127,483,985 (GRCm39) |
Q89L |
probably damaging |
Het |
Tat |
A |
G |
8: 110,718,270 (GRCm39) |
T52A |
possibly damaging |
Het |
Yipf7 |
T |
A |
5: 69,678,406 (GRCm39) |
I128F |
probably benign |
Het |
Zfp112 |
T |
A |
7: 23,825,288 (GRCm39) |
C419S |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,742,726 (GRCm39) |
I769V |
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 |
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 |
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'- GTCACTTACAGGTTGCTCCTGACTC -3'
(R):5'- AGGCTAACCCTGTGCTCTAGAATGG -3'
Sequencing Primer
(F):5'- ATCCACATAGGAAGTGGACAC -3'
(R):5'- cactagaagagagcatcagatcc -3'
|
Posted On |
2013-07-11 |