Incidental Mutation 'R5149:Sparcl1'
ID |
395242 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sparcl1
|
Ensembl Gene |
ENSMUSG00000029309 |
Gene Name |
SPARC-like 1 |
Synonyms |
hevin, Ecm2, mast9, Sc1 |
MMRRC Submission |
042732-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5149 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
A |
G |
16: 22,717,673 (GRCm39) |
T245A |
probably benign |
Het |
Akr1c13 |
G |
T |
13: 4,244,168 (GRCm39) |
V74L |
probably benign |
Het |
Amt |
G |
A |
9: 108,178,650 (GRCm39) |
V389I |
possibly damaging |
Het |
Ankrd26 |
T |
C |
6: 118,535,957 (GRCm39) |
N159S |
probably benign |
Het |
Atp1a4 |
A |
G |
1: 172,059,572 (GRCm39) |
I840T |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,364 (GRCm39) |
|
probably null |
Het |
Col27a1 |
T |
C |
4: 63,249,664 (GRCm39) |
|
probably benign |
Het |
Cyp2j5 |
A |
G |
4: 96,547,744 (GRCm39) |
L166P |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dchs1 |
G |
A |
7: 105,404,865 (GRCm39) |
T2559I |
probably damaging |
Het |
Dnah12 |
C |
A |
14: 26,572,883 (GRCm39) |
S258* |
probably null |
Het |
Dpep1 |
A |
T |
8: 123,927,177 (GRCm39) |
T309S |
probably benign |
Het |
Epha5 |
A |
T |
5: 84,298,217 (GRCm39) |
F559L |
probably damaging |
Het |
Gm3409 |
T |
C |
5: 146,474,571 (GRCm39) |
I29T |
possibly damaging |
Het |
Grhl1 |
CAGAAGAAG |
CAGAAG |
12: 24,662,178 (GRCm39) |
|
probably benign |
Het |
Gtf3c1 |
G |
T |
7: 125,267,209 (GRCm39) |
R941S |
probably damaging |
Het |
Helb |
C |
T |
10: 119,941,648 (GRCm39) |
E347K |
probably benign |
Het |
Ighv14-3 |
A |
G |
12: 114,023,710 (GRCm39) |
S36P |
probably damaging |
Het |
Klrb1c |
T |
A |
6: 128,760,670 (GRCm39) |
M211L |
probably benign |
Het |
Larp7 |
C |
T |
3: 127,334,460 (GRCm39) |
E510K |
probably damaging |
Het |
Lrig1 |
C |
T |
6: 94,605,025 (GRCm39) |
R190Q |
possibly damaging |
Het |
Marchf6 |
A |
G |
15: 31,462,140 (GRCm39) |
S863P |
possibly damaging |
Het |
Mgst2 |
A |
G |
3: 51,589,958 (GRCm39) |
N132S |
probably benign |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or5w15 |
A |
T |
2: 87,567,749 (GRCm39) |
S306R |
probably benign |
Het |
Or6c6c |
T |
C |
10: 129,541,377 (GRCm39) |
V210A |
probably benign |
Het |
Papln |
A |
T |
12: 83,818,656 (GRCm39) |
|
probably null |
Het |
Poteg |
C |
T |
8: 27,971,671 (GRCm39) |
S395L |
possibly damaging |
Het |
Prox1 |
T |
A |
1: 189,879,250 (GRCm39) |
I643F |
possibly damaging |
Het |
Septin4 |
A |
G |
11: 87,480,071 (GRCm39) |
E211G |
probably damaging |
Het |
Serpinb6e |
A |
G |
13: 34,016,468 (GRCm39) |
F422L |
probably damaging |
Het |
Slc22a19 |
A |
G |
19: 7,688,503 (GRCm39) |
L19P |
probably damaging |
Het |
Snf8 |
G |
T |
11: 95,934,286 (GRCm39) |
A136S |
probably benign |
Het |
Spta1 |
A |
G |
1: 174,075,000 (GRCm39) |
T2409A |
probably damaging |
Het |
Tat |
A |
G |
8: 110,723,450 (GRCm39) |
S313G |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,074,855 (GRCm39) |
C1785* |
probably null |
Het |
Tmem132b |
A |
G |
5: 125,699,989 (GRCm39) |
S176G |
probably damaging |
Het |
Tnfrsf8 |
T |
C |
4: 145,029,675 (GRCm39) |
R42G |
possibly damaging |
Het |
Trio |
T |
C |
15: 27,754,115 (GRCm39) |
D2124G |
possibly damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,046,598 (GRCm39) |
D1067E |
probably benign |
Het |
Tspan13 |
T |
C |
12: 36,074,065 (GRCm39) |
S24G |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,344,062 (GRCm39) |
S814P |
possibly damaging |
Het |
Zfp213 |
C |
A |
17: 23,780,373 (GRCm39) |
R49L |
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 |
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'- ACTCACTATCGCGATTCGGG -3'
(R):5'- TTATTTGAACCAGGCTTCATGC -3'
Sequencing Primer
(F):5'- GCCACGTCCAATTATTTTCTAAGTG -3'
(R):5'- CTGGGCAGGTTTCCCTCTG -3'
|
Posted On |
2016-06-21 |