Incidental Mutation 'R3979:Sparcl1'
ID |
311180 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sparcl1
|
Ensembl Gene |
ENSMUSG00000029309 |
Gene Name |
SPARC-like 1 |
Synonyms |
hevin, Ecm2, mast9, Sc1 |
MMRRC Submission |
040942-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3979 (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 104240647 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 259
(H259R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031249]
[ENSMUST00000199947]
|
AlphaFold |
P70663 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031249
AA Change: H259R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000031249 Gene: ENSMUSG00000029309 AA Change: H259R
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 benign
Transcript: ENSMUST00000199947
|
SMART Domains |
Protein: ENSMUSP00000143177 Gene: ENSMUSG00000029309
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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
G |
2: 69,154,320 (GRCm39) |
V82A |
probably benign |
Het |
Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
Ak3 |
T |
A |
19: 29,025,118 (GRCm39) |
S38C |
probably damaging |
Het |
Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
Arhgap10 |
T |
C |
8: 78,147,354 (GRCm39) |
N170S |
probably benign |
Het |
B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
Bicral |
T |
A |
17: 47,141,917 (GRCm39) |
M1L |
unknown |
Het |
Bop1 |
A |
G |
15: 76,338,076 (GRCm39) |
L598P |
probably damaging |
Het |
Cachd1 |
A |
T |
4: 100,828,085 (GRCm39) |
D611V |
probably damaging |
Het |
Cfap70 |
T |
A |
14: 20,489,787 (GRCm39) |
E246D |
probably benign |
Het |
Chl1 |
T |
A |
6: 103,692,245 (GRCm39) |
Y294* |
probably null |
Het |
Chrna2 |
T |
A |
14: 66,386,402 (GRCm39) |
Y183N |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
Dnajb6 |
T |
C |
5: 29,956,006 (GRCm39) |
F46L |
possibly damaging |
Het |
Exoc7 |
T |
C |
11: 116,187,588 (GRCm39) |
E275G |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,559,491 (GRCm39) |
I1672T |
probably benign |
Het |
Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
H2-M10.4 |
A |
G |
17: 36,772,877 (GRCm39) |
V35A |
probably benign |
Het |
Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
Iffo1 |
A |
G |
6: 125,137,552 (GRCm39) |
|
probably benign |
Het |
Iqgap1 |
G |
A |
7: 80,409,682 (GRCm39) |
H218Y |
probably damaging |
Het |
Itpr3 |
A |
C |
17: 27,304,105 (GRCm39) |
K109Q |
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,310,546 (GRCm39) |
D443G |
probably damaging |
Het |
Katna1 |
T |
C |
10: 7,628,518 (GRCm39) |
M249T |
probably damaging |
Het |
Klk1b4 |
G |
A |
7: 43,861,017 (GRCm39) |
G220D |
probably damaging |
Het |
Krt24 |
A |
G |
11: 99,173,596 (GRCm39) |
C242R |
probably benign |
Het |
Madd |
G |
A |
2: 91,007,173 (GRCm39) |
T313I |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mical2 |
A |
G |
7: 112,006,885 (GRCm39) |
|
probably null |
Het |
Neil3 |
T |
C |
8: 54,076,699 (GRCm39) |
T79A |
probably damaging |
Het |
Nras |
A |
G |
3: 102,967,541 (GRCm39) |
I46V |
probably benign |
Het |
Or2w1b |
T |
A |
13: 21,300,031 (GRCm39) |
H56Q |
probably benign |
Het |
Or4a66 |
T |
C |
2: 88,530,792 (GRCm39) |
S294G |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
Rarres1 |
A |
G |
3: 67,403,143 (GRCm39) |
V86A |
probably benign |
Het |
Rdh19 |
A |
T |
10: 127,685,944 (GRCm39) |
R19W |
possibly damaging |
Het |
Rock2 |
A |
G |
12: 17,022,737 (GRCm39) |
K1059E |
probably damaging |
Het |
Sft2d1rt |
T |
A |
11: 45,942,853 (GRCm39) |
K90M |
probably damaging |
Het |
Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,699,320 (GRCm39) |
D515G |
possibly damaging |
Het |
Sycp2l |
A |
G |
13: 41,295,440 (GRCm39) |
I334M |
probably damaging |
Het |
Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
Tasor |
T |
C |
14: 27,199,087 (GRCm39) |
L1335S |
possibly damaging |
Het |
Tcaf2 |
A |
G |
6: 42,619,481 (GRCm39) |
V182A |
probably damaging |
Het |
Tcof1 |
C |
T |
18: 60,964,605 (GRCm39) |
E674K |
possibly damaging |
Het |
Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,575,738 (GRCm39) |
W25052R |
probably damaging |
Het |
Ubr1 |
T |
A |
2: 120,693,168 (GRCm39) |
N1746I |
probably benign |
Het |
Vax2 |
T |
C |
6: 83,714,529 (GRCm39) |
V148A |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vmn2r96 |
T |
A |
17: 18,817,941 (GRCm39) |
I698N |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,078,252 (GRCm39) |
V372A |
probably benign |
Het |
Zfp335 |
C |
T |
2: 164,752,558 (GRCm39) |
G62D |
probably benign |
Het |
Zfp563 |
G |
A |
17: 33,324,701 (GRCm39) |
R432H |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,636 (GRCm39) |
T537A |
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 |
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'- TCTGTGGAAACGGCCTTCTC -3'
(R):5'- ACCCAAGACTTAAAGGCTGAAG -3'
Sequencing Primer
(F):5'- TGGAAACGGCCTTCTCATCAGTG -3'
(R):5'- TCCAGACATTCCCAATGAAGAAGAGG -3'
|
Posted On |
2015-04-29 |