Other mutations in this stock |
Total: 95 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
G |
A |
7: 28,310,553 (GRCm39) |
|
probably benign |
Het |
Adcyap1r1 |
G |
T |
6: 55,452,508 (GRCm39) |
|
probably benign |
Het |
Ankrd6 |
T |
C |
4: 32,836,424 (GRCm39) |
T44A |
probably damaging |
Het |
Ano7 |
A |
G |
1: 93,316,380 (GRCm39) |
D221G |
probably benign |
Het |
Bhlhe40 |
C |
A |
6: 108,641,711 (GRCm39) |
N218K |
probably damaging |
Het |
Bms1 |
A |
G |
6: 118,382,251 (GRCm39) |
V429A |
probably benign |
Het |
C7 |
T |
A |
15: 5,018,444 (GRCm39) |
T800S |
probably benign |
Het |
Camta2 |
G |
A |
11: 70,574,136 (GRCm39) |
T127I |
probably damaging |
Het |
Ccdc13 |
T |
A |
9: 121,627,282 (GRCm39) |
N665I |
probably damaging |
Het |
Ccdc157 |
T |
C |
11: 4,096,663 (GRCm39) |
E362G |
probably damaging |
Het |
Ccdc73 |
T |
A |
2: 104,811,352 (GRCm39) |
N310K |
probably damaging |
Het |
Cfap91 |
T |
A |
16: 38,118,659 (GRCm39) |
|
probably null |
Het |
Cmklr1 |
A |
T |
5: 113,752,578 (GRCm39) |
L141H |
probably damaging |
Het |
Cnst |
C |
A |
1: 179,407,100 (GRCm39) |
A49E |
probably benign |
Het |
Col5a3 |
C |
T |
9: 20,683,762 (GRCm39) |
R1498Q |
unknown |
Het |
Crybb3 |
T |
A |
5: 113,223,819 (GRCm39) |
I197F |
probably damaging |
Het |
Cryzl1 |
G |
A |
16: 91,504,155 (GRCm39) |
P97S |
probably benign |
Het |
Cubn |
T |
C |
2: 13,315,318 (GRCm39) |
|
probably benign |
Het |
Cyp2d37-ps |
T |
C |
15: 82,574,253 (GRCm39) |
|
noncoding transcript |
Het |
Cyp4a12b |
C |
A |
4: 115,290,117 (GRCm39) |
N223K |
probably benign |
Het |
D16Ertd472e |
A |
T |
16: 78,344,773 (GRCm39) |
C112S |
probably benign |
Het |
Dennd2a |
T |
C |
6: 39,485,233 (GRCm39) |
T349A |
probably benign |
Het |
Dock5 |
G |
A |
14: 68,060,129 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,857,267 (GRCm39) |
L404P |
probably damaging |
Het |
Dsc3 |
T |
A |
18: 20,104,639 (GRCm39) |
T563S |
possibly damaging |
Het |
Dync2h1 |
T |
A |
9: 7,113,182 (GRCm39) |
E214D |
possibly damaging |
Het |
Elac2 |
A |
G |
11: 64,870,136 (GRCm39) |
Y67C |
probably damaging |
Het |
Elmo1 |
A |
T |
13: 20,748,663 (GRCm39) |
K503* |
probably null |
Het |
Eng |
T |
C |
2: 32,569,149 (GRCm39) |
S559P |
probably benign |
Het |
Epc2 |
T |
A |
2: 49,427,145 (GRCm39) |
V563E |
possibly damaging |
Het |
Fancm |
A |
G |
12: 65,122,724 (GRCm39) |
Y82C |
probably damaging |
Het |
Flt4 |
A |
T |
11: 49,527,818 (GRCm39) |
M924L |
probably benign |
Het |
Gabpa |
T |
A |
16: 84,654,275 (GRCm39) |
N317K |
possibly damaging |
Het |
Gchfr |
T |
G |
2: 118,998,327 (GRCm39) |
Y3* |
probably null |
Het |
Gli3 |
G |
T |
13: 15,899,349 (GRCm39) |
G912V |
probably benign |
Het |
Gm10295 |
C |
A |
7: 71,000,361 (GRCm39) |
C73F |
unknown |
Het |
Gm10382 |
G |
T |
5: 125,466,728 (GRCm39) |
|
probably benign |
Het |
Gp1ba |
T |
C |
11: 70,531,284 (GRCm39) |
|
probably benign |
Het |
Gpr146 |
G |
A |
5: 139,364,933 (GRCm39) |
|
probably benign |
Het |
Hexd |
T |
A |
11: 121,102,969 (GRCm39) |
H62Q |
probably benign |
Het |
Hgd |
T |
A |
16: 37,431,546 (GRCm39) |
|
probably benign |
Het |
Hs6st1 |
G |
A |
1: 36,108,266 (GRCm39) |
|
probably null |
Het |
Icam4 |
A |
G |
9: 20,941,117 (GRCm39) |
Y123C |
probably damaging |
Het |
Il24 |
A |
G |
1: 130,811,674 (GRCm39) |
V134A |
probably damaging |
Het |
Iqcb1 |
G |
T |
16: 36,692,670 (GRCm39) |
A562S |
probably damaging |
Het |
Iqgap2 |
A |
C |
13: 95,867,783 (GRCm39) |
|
probably benign |
Het |
Islr2 |
T |
C |
9: 58,107,027 (GRCm39) |
T78A |
possibly damaging |
Het |
Kif1b |
A |
G |
4: 149,347,186 (GRCm39) |
I330T |
probably damaging |
Het |
Kirrel1 |
T |
C |
3: 86,997,106 (GRCm39) |
Y287C |
probably damaging |
Het |
Klf10 |
C |
T |
15: 38,297,090 (GRCm39) |
V317M |
probably benign |
Het |
Klhl9 |
T |
G |
4: 88,638,527 (GRCm39) |
K571N |
probably benign |
Het |
Lin37 |
T |
C |
7: 30,256,438 (GRCm39) |
I97V |
possibly damaging |
Het |
Lrrc37a |
C |
T |
11: 103,391,466 (GRCm39) |
V1320I |
possibly damaging |
Het |
Lrrc74a |
A |
G |
12: 86,784,569 (GRCm39) |
H99R |
probably damaging |
Het |
Me3 |
T |
A |
7: 89,435,622 (GRCm39) |
|
probably null |
Het |
Med13 |
T |
C |
11: 86,219,987 (GRCm39) |
|
probably benign |
Het |
Myh6 |
A |
T |
14: 55,185,804 (GRCm39) |
Y1490* |
probably null |
Het |
Myo10 |
T |
C |
15: 25,804,454 (GRCm39) |
L1583P |
probably damaging |
Het |
Nkx6-3 |
A |
G |
8: 23,647,722 (GRCm39) |
E227G |
possibly damaging |
Het |
Nlrp1a |
T |
A |
11: 71,004,830 (GRCm39) |
|
probably benign |
Het |
Nlrp5-ps |
A |
C |
7: 14,317,016 (GRCm39) |
|
noncoding transcript |
Het |
Nup188 |
T |
G |
2: 30,216,491 (GRCm39) |
I765S |
probably null |
Het |
Obscn |
G |
A |
11: 59,019,107 (GRCm39) |
A969V |
probably benign |
Het |
Or11a4 |
T |
C |
17: 37,536,934 (GRCm39) |
L306P |
possibly damaging |
Het |
Or1j19 |
T |
A |
2: 36,677,452 (GRCm39) |
M305K |
probably benign |
Het |
Or5a1 |
G |
T |
19: 12,097,217 (GRCm39) |
D286E |
possibly damaging |
Het |
Or8k33 |
A |
T |
2: 86,384,123 (GRCm39) |
L115Q |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,606,511 (GRCm39) |
|
probably benign |
Het |
Pcnx3 |
G |
A |
19: 5,715,611 (GRCm39) |
R1472W |
probably damaging |
Het |
Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
Plscr4 |
T |
A |
9: 92,370,814 (GRCm39) |
|
probably benign |
Het |
Pon2 |
G |
A |
6: 5,266,156 (GRCm39) |
Q288* |
probably null |
Het |
Ptpn13 |
C |
A |
5: 103,681,214 (GRCm39) |
R805S |
probably damaging |
Het |
Pyroxd2 |
A |
T |
19: 42,735,992 (GRCm39) |
V62D |
probably damaging |
Het |
Rab37 |
G |
T |
11: 115,047,790 (GRCm39) |
C44F |
probably damaging |
Het |
Rbm44 |
T |
C |
1: 91,080,069 (GRCm39) |
S52P |
probably benign |
Het |
Rgl3 |
A |
G |
9: 21,888,153 (GRCm39) |
W454R |
probably damaging |
Het |
Rita1 |
A |
G |
5: 120,747,837 (GRCm39) |
S154P |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,351,665 (GRCm39) |
D772G |
probably damaging |
Het |
Sec23ip |
G |
A |
7: 128,363,129 (GRCm39) |
|
probably benign |
Het |
Skic8 |
A |
T |
9: 54,634,862 (GRCm39) |
|
probably benign |
Het |
Slc23a1 |
T |
A |
18: 35,756,032 (GRCm39) |
|
probably benign |
Het |
Slco1a8 |
A |
C |
6: 141,928,053 (GRCm39) |
|
probably benign |
Het |
Taar6 |
C |
A |
10: 23,861,046 (GRCm39) |
V167L |
probably benign |
Het |
Tmcc3 |
T |
A |
10: 94,414,407 (GRCm39) |
N36K |
probably benign |
Het |
Tmem200c |
T |
A |
17: 69,147,543 (GRCm39) |
V42E |
probably damaging |
Het |
Trhde |
T |
C |
10: 114,338,887 (GRCm39) |
|
probably benign |
Het |
Tshz3 |
A |
G |
7: 36,469,958 (GRCm39) |
E649G |
probably benign |
Het |
Utp4 |
T |
C |
8: 107,625,169 (GRCm39) |
|
probably benign |
Het |
Vmn1r30 |
A |
G |
6: 58,412,262 (GRCm39) |
V190A |
probably benign |
Het |
Vmn1r35 |
A |
G |
6: 66,655,827 (GRCm39) |
I281T |
probably damaging |
Het |
Vmn1r58 |
G |
T |
7: 5,413,329 (GRCm39) |
H300Q |
probably benign |
Het |
Vmn1r84 |
A |
G |
7: 12,095,799 (GRCm39) |
L286P |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,349,576 (GRCm39) |
C669S |
probably damaging |
Het |
Zfp623 |
T |
C |
15: 75,820,510 (GRCm39) |
S489P |
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 |
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 |
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 |
|
Protein Function and Prediction |
Sparcl1 encodes Hevin/Sc1, an matricellular secreted glycoprotein in the SPARC family (1). Hevin has three major domains: an N-terminal acidic domain, a follistatin-like domain, and the extracellular calcium-binding domain (1). The follistain-like domain is homologous to a domain in follistatin, a protein that inhibits members of the TGF-β superfamily (1). Hevin has been shown to inhibit the attachment and spreading of endothelial cells and to reduce focal adhesion formation by endothelial cells (2). Therefore, the proposed function of hevin is to modulate cell migration. Girard and Springer propose that hevin participates in lymphocyte transendothelial migration and might alter vascular permeability (2). The related protein, SPARC, functions as a cell cycle inhibitor, de-adhesive protein, a regulator of growth factor activity, and modulatory cell-matrix interactions (3). Northern blot analysis detected expression of Sparcl1 in lymph node, brain, heart, lung, skeletal muscle, ovary, small intestine, and colon, with lower levels in placenta, pancreas, testis, spleen, and thymus, and no expression in kidney, liver, and peripheral blood leukocytes (4). Sparcl1tm1Pmc/tm1Pmc; MGI:2153047
involves: 129S1/Sv
Homozygotes exhibit stunted and less branched processes extending from extending from Purkinje cell bodies compared to in wild-type mice and exhibit an increase in glial cells compared to in wild-type mice (5). Sparcl1tm1Pmc/tm1Pmc; MGI:2153047
involves: 129S1/Sv * C57BL/6
Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal histology and survival (6).
|