Incidental Mutation 'R5095:Sparcl1'
ID |
395812 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sparcl1
|
Ensembl Gene |
ENSMUSG00000029309 |
Gene Name |
SPARC-like 1 |
Synonyms |
hevin, Ecm2, mast9, Sc1 |
MMRRC Submission |
042684-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5095 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
104226977-104261599 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 104233629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 573
(M573I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031249]
|
AlphaFold |
P70663 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031249
AA Change: M573I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031249 Gene: ENSMUSG00000029309 AA Change: M573I
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 |
0.3728 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (59/60) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700021A07Rik |
G |
C |
10: 21,301,492 (GRCm39) |
|
noncoding transcript |
Het |
Adgrv1 |
C |
T |
13: 81,243,606 (GRCm39) |
V6265I |
probably benign |
Het |
Agbl1 |
G |
A |
7: 76,369,881 (GRCm39) |
G660D |
probably damaging |
Het |
Arap2 |
A |
G |
5: 62,811,392 (GRCm39) |
Y1140H |
probably damaging |
Het |
Atp6v1c1 |
T |
C |
15: 38,679,657 (GRCm39) |
|
probably null |
Het |
C1rb |
A |
T |
6: 124,557,272 (GRCm39) |
R470W |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,691,564 (GRCm39) |
T1074A |
probably benign |
Het |
Cdh19 |
T |
A |
1: 110,882,391 (GRCm39) |
T34S |
probably benign |
Het |
Csnk1a1 |
T |
A |
18: 61,708,547 (GRCm39) |
Y175N |
probably damaging |
Het |
F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
Flt4 |
T |
A |
11: 49,517,986 (GRCm39) |
V342D |
possibly damaging |
Het |
Frmd5 |
A |
T |
2: 121,379,402 (GRCm39) |
C394S |
possibly damaging |
Het |
Gm5414 |
T |
G |
15: 101,532,473 (GRCm39) |
N550T |
probably benign |
Het |
Hcn3 |
C |
A |
3: 89,057,230 (GRCm39) |
R456L |
probably damaging |
Het |
Htt |
T |
C |
5: 34,981,739 (GRCm39) |
V893A |
possibly damaging |
Het |
Ift46 |
A |
G |
9: 44,698,146 (GRCm39) |
D203G |
probably damaging |
Het |
Itga10 |
G |
T |
3: 96,555,480 (GRCm39) |
V145L |
probably benign |
Het |
Kcnh6 |
A |
G |
11: 105,908,080 (GRCm39) |
D232G |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,820,497 (GRCm39) |
S431P |
probably damaging |
Het |
Mmp27 |
T |
A |
9: 7,572,159 (GRCm39) |
W120R |
probably damaging |
Het |
Mmp27 |
A |
T |
9: 7,579,001 (GRCm39) |
D418V |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,059,302 (GRCm39) |
D510G |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,091,671 (GRCm39) |
K1179* |
probably null |
Het |
Neto1 |
T |
C |
18: 86,416,406 (GRCm39) |
S38P |
probably benign |
Het |
Nos3 |
A |
G |
5: 24,573,916 (GRCm39) |
|
probably benign |
Het |
Nuggc |
C |
T |
14: 65,872,539 (GRCm39) |
R512* |
probably null |
Het |
Oas1e |
T |
A |
5: 120,932,329 (GRCm39) |
K105* |
probably null |
Het |
Omd |
T |
A |
13: 49,743,174 (GRCm39) |
S75T |
possibly damaging |
Het |
Or10a3m |
T |
C |
7: 108,313,019 (GRCm39) |
F141S |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Pbrm1 |
A |
G |
14: 30,754,487 (GRCm39) |
N190S |
probably benign |
Het |
Picalm |
T |
C |
7: 89,819,841 (GRCm39) |
F85L |
probably damaging |
Het |
Polg |
A |
G |
7: 79,110,048 (GRCm39) |
V360A |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,423,841 (GRCm39) |
D1017G |
probably damaging |
Het |
Prss56 |
G |
C |
1: 87,115,833 (GRCm39) |
R569P |
probably damaging |
Het |
Rab6b |
G |
A |
9: 103,017,583 (GRCm39) |
G25R |
probably damaging |
Het |
Rdh10 |
A |
G |
1: 16,201,609 (GRCm39) |
T332A |
probably benign |
Het |
Rheb |
A |
T |
5: 25,012,639 (GRCm39) |
M115K |
probably benign |
Het |
Rnf149 |
A |
T |
1: 39,594,737 (GRCm39) |
D321E |
probably benign |
Het |
Rps28 |
C |
T |
17: 34,042,177 (GRCm39) |
|
probably null |
Het |
Slc6a20b |
A |
G |
9: 123,424,119 (GRCm39) |
V616A |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,305,169 (GRCm39) |
K300R |
probably damaging |
Het |
Spata31h1 |
G |
T |
10: 82,119,501 (GRCm39) |
A4503E |
probably damaging |
Het |
Srp68 |
C |
T |
11: 116,139,573 (GRCm39) |
V459M |
probably damaging |
Het |
Stxbp4 |
C |
T |
11: 90,439,801 (GRCm39) |
V346I |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,999,600 (GRCm39) |
D2331G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,564,536 (GRCm39) |
Y28534N |
probably damaging |
Het |
Usp44 |
A |
T |
10: 93,682,707 (GRCm39) |
I386F |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,436,317 (GRCm39) |
|
probably null |
Het |
Vmn2r72 |
T |
A |
7: 85,387,061 (GRCm39) |
L834F |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,923,348 (GRCm39) |
I3741K |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,348,232 (GRCm39) |
T2204A |
possibly damaging |
Het |
Zfp607b |
T |
A |
7: 27,393,061 (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 |
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 |
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'- AACTCACTATCGCGATTCGG -3'
(R):5'- TTATTTGAACCAGGCTTCATGC -3'
Sequencing Primer
(F):5'- GCCACGTCCAATTATTTTCTAAGTG -3'
(R):5'- CTGGGCAGGTTTCCCTCTG -3'
|
Posted On |
2016-06-21 |