Incidental Mutation 'R4771:Spg11'
ID |
367470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spg11
|
Ensembl Gene |
ENSMUSG00000033396 |
Gene Name |
SPG11, spatacsin vesicle trafficking associated |
Synonyms |
6030465E24Rik, C530005A01Rik, spastic paraplegia 11 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R4771 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
121884001-121948867 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 121895963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 1752
(Q1752*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036450]
|
AlphaFold |
Q3UHA3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036450
AA Change: Q1752*
|
SMART Domains |
Protein: ENSMUSP00000037543 Gene: ENSMUSG00000033396 AA Change: Q1752*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
254 |
276 |
N/A |
INTRINSIC |
low complexity region
|
945 |
958 |
N/A |
INTRINSIC |
low complexity region
|
1250 |
1264 |
N/A |
INTRINSIC |
low complexity region
|
1305 |
1313 |
N/A |
INTRINSIC |
low complexity region
|
1673 |
1684 |
N/A |
INTRINSIC |
low complexity region
|
1772 |
1784 |
N/A |
INTRINSIC |
Pfam:Spatacsin_C
|
2082 |
2374 |
1.1e-105 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] PHENOTYPE: Mice homozygous for a knock-out allele develop a progressive spastic and ataxic gait disorder and show loss of cortical motoneurons and Purkinje cells, a reduced number of lysosomes available for fusion with autophagosomes in degenerating neurons, and accumulation of autolysosome-derived material. [provided by MGI curators]
|
Allele List at MGI |
All alleles(10) : Gene trapped(10)
|
Other mutations in this stock |
Total: 111 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
T |
C |
8: 125,366,300 (GRCm39) |
T148A |
probably benign |
Het |
Abcc4 |
G |
T |
14: 118,721,796 (GRCm39) |
N1234K |
probably benign |
Het |
Adamts20 |
C |
T |
15: 94,249,516 (GRCm39) |
|
probably null |
Het |
Aqp9 |
C |
T |
9: 71,030,152 (GRCm39) |
G212S |
probably damaging |
Het |
Asb15 |
A |
T |
6: 24,570,621 (GRCm39) |
N533I |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,804,518 (GRCm39) |
V1884A |
probably benign |
Het |
Ccdc106 |
G |
A |
7: 5,060,521 (GRCm39) |
|
probably null |
Het |
Cfap46 |
A |
T |
7: 139,210,524 (GRCm39) |
L1774Q |
probably null |
Het |
Cfap95 |
A |
G |
19: 23,536,337 (GRCm39) |
L190P |
probably damaging |
Het |
Cibar1 |
T |
A |
4: 12,155,689 (GRCm39) |
Q311L |
probably benign |
Het |
Clec2h |
G |
A |
6: 128,651,118 (GRCm39) |
E133K |
probably damaging |
Het |
Cntn1 |
T |
A |
15: 92,202,972 (GRCm39) |
F751L |
possibly damaging |
Het |
Col20a1 |
A |
T |
2: 180,630,917 (GRCm39) |
M62L |
probably benign |
Het |
Col7a1 |
T |
C |
9: 108,800,993 (GRCm39) |
V1899A |
probably damaging |
Het |
Cpa5 |
T |
A |
6: 30,612,684 (GRCm39) |
L28* |
probably null |
Het |
Crb1 |
T |
A |
1: 139,255,942 (GRCm39) |
E264D |
probably damaging |
Het |
Creb3l2 |
A |
T |
6: 37,311,512 (GRCm39) |
S426T |
probably benign |
Het |
Cspg5 |
T |
A |
9: 110,080,195 (GRCm39) |
N373K |
probably damaging |
Het |
Ctso |
T |
C |
3: 81,840,047 (GRCm39) |
S26P |
probably benign |
Het |
Depdc1b |
A |
C |
13: 108,519,434 (GRCm39) |
D348A |
probably benign |
Het |
Diaph1 |
A |
T |
18: 37,986,604 (GRCm39) |
M1127K |
probably damaging |
Het |
Dlgap1 |
A |
T |
17: 70,900,375 (GRCm39) |
K397* |
probably null |
Het |
Dock3 |
T |
A |
9: 106,829,557 (GRCm39) |
H1119L |
possibly damaging |
Het |
Dok4 |
G |
T |
8: 95,591,795 (GRCm39) |
|
probably null |
Het |
Dram2 |
A |
G |
3: 106,480,361 (GRCm39) |
T225A |
probably damaging |
Het |
Dst |
G |
A |
1: 34,288,565 (GRCm39) |
R5603H |
probably damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,775,996 (GRCm39) |
F18S |
probably damaging |
Het |
Epha5 |
A |
G |
5: 84,298,278 (GRCm39) |
V427A |
probably damaging |
Het |
Exoc4 |
A |
T |
6: 33,418,884 (GRCm39) |
|
probably null |
Het |
Exph5 |
C |
T |
9: 53,284,965 (GRCm39) |
T682I |
possibly damaging |
Het |
Fnbp1l |
A |
T |
3: 122,351,752 (GRCm39) |
S264T |
possibly damaging |
Het |
Ggnbp2 |
A |
T |
11: 84,725,314 (GRCm39) |
D580E |
probably benign |
Het |
Gm10277 |
G |
A |
11: 77,676,534 (GRCm39) |
|
probably benign |
Het |
Golm2 |
T |
A |
2: 121,756,126 (GRCm39) |
V352E |
probably damaging |
Het |
Gtf2a1l |
C |
A |
17: 88,997,448 (GRCm39) |
P93Q |
probably benign |
Het |
Hydin |
A |
T |
8: 111,259,515 (GRCm39) |
I2496F |
probably benign |
Het |
Ighv7-2 |
A |
C |
12: 113,876,087 (GRCm39) |
I6S |
probably benign |
Het |
Irs1 |
A |
G |
1: 82,265,696 (GRCm39) |
V840A |
probably benign |
Het |
Itgal |
A |
G |
7: 126,927,405 (GRCm39) |
E965G |
probably damaging |
Het |
Izumo1 |
T |
G |
7: 45,272,233 (GRCm39) |
F5V |
probably benign |
Het |
Izumo1 |
T |
A |
7: 45,272,234 (GRCm39) |
F5Y |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,978,687 (GRCm39) |
S175P |
probably damaging |
Het |
Klf14 |
A |
G |
6: 30,934,960 (GRCm39) |
F225L |
probably damaging |
Het |
Kpna1 |
T |
C |
16: 35,853,773 (GRCm39) |
Y468H |
probably damaging |
Het |
Krt5 |
T |
A |
15: 101,617,494 (GRCm39) |
Q413L |
probably damaging |
Het |
Lbr |
T |
C |
1: 181,665,986 (GRCm39) |
Y41C |
probably damaging |
Het |
Lmcd1 |
A |
T |
6: 112,292,834 (GRCm39) |
N229Y |
probably damaging |
Het |
Marchf3 |
T |
A |
18: 56,916,170 (GRCm39) |
H175L |
probably benign |
Het |
Mcmbp |
A |
G |
7: 128,300,124 (GRCm39) |
|
probably null |
Het |
Med27 |
T |
A |
2: 29,303,515 (GRCm39) |
L16Q |
probably damaging |
Het |
Mex3b |
A |
T |
7: 82,518,273 (GRCm39) |
Q196L |
possibly damaging |
Het |
Mga |
T |
C |
2: 119,794,775 (GRCm39) |
S2820P |
probably damaging |
Het |
Mroh2a |
C |
T |
1: 88,179,087 (GRCm39) |
L1104F |
probably damaging |
Het |
Mta3 |
A |
G |
17: 84,063,103 (GRCm39) |
E166G |
probably damaging |
Het |
Mthfd2l |
A |
G |
5: 91,096,727 (GRCm39) |
E116G |
possibly damaging |
Het |
Musk |
A |
G |
4: 58,301,706 (GRCm39) |
I155V |
probably benign |
Het |
Myh7b |
G |
A |
2: 155,468,314 (GRCm39) |
W834* |
probably null |
Het |
Myo18b |
T |
A |
5: 112,840,093 (GRCm39) |
R2567* |
probably null |
Het |
Nars2 |
A |
T |
7: 96,684,452 (GRCm39) |
E325V |
probably damaging |
Het |
Nploc4 |
A |
G |
11: 120,312,260 (GRCm39) |
V106A |
possibly damaging |
Het |
Nudcd1 |
A |
T |
15: 44,268,878 (GRCm39) |
S167R |
probably damaging |
Het |
Nup133 |
T |
A |
8: 124,656,137 (GRCm39) |
D448V |
probably damaging |
Het |
Or5al1 |
G |
T |
2: 85,990,417 (GRCm39) |
T99N |
probably benign |
Het |
Or5p70 |
A |
T |
7: 107,995,229 (GRCm39) |
K301* |
probably null |
Het |
Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
Pcdh8 |
C |
T |
14: 80,005,710 (GRCm39) |
A893T |
possibly damaging |
Het |
Per3 |
A |
T |
4: 151,093,716 (GRCm39) |
V1033E |
probably damaging |
Het |
Polr1e |
T |
C |
4: 45,019,282 (GRCm39) |
S44P |
probably damaging |
Het |
Pou4f2 |
T |
A |
8: 79,161,865 (GRCm39) |
H246L |
possibly damaging |
Het |
Psmd2 |
G |
A |
16: 20,481,429 (GRCm39) |
R828Q |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,524,288 (GRCm39) |
S482P |
probably benign |
Het |
Rbm14 |
G |
T |
19: 4,852,671 (GRCm39) |
|
probably benign |
Het |
Reln |
T |
C |
5: 22,254,698 (GRCm39) |
D557G |
probably damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,034,499 (GRCm39) |
I242T |
probably benign |
Het |
Runx1 |
C |
A |
16: 92,492,629 (GRCm39) |
V5L |
possibly damaging |
Het |
Shld2 |
G |
A |
14: 33,990,663 (GRCm39) |
T81M |
probably damaging |
Het |
Slc13a1 |
A |
T |
6: 24,100,339 (GRCm39) |
Y381* |
probably null |
Het |
Smyd3 |
A |
T |
1: 178,921,961 (GRCm39) |
C180S |
probably damaging |
Het |
Sntg2 |
T |
A |
12: 30,326,658 (GRCm39) |
|
probably null |
Het |
Snx19 |
G |
A |
9: 30,344,934 (GRCm39) |
V678I |
probably damaging |
Het |
Spag5 |
G |
A |
11: 78,195,592 (GRCm39) |
A300T |
probably damaging |
Het |
Spdl1 |
T |
A |
11: 34,704,154 (GRCm39) |
R560W |
probably damaging |
Het |
Spen |
T |
C |
4: 141,199,907 (GRCm39) |
T2884A |
probably benign |
Het |
Srrm4 |
C |
A |
5: 116,613,234 (GRCm39) |
|
probably null |
Het |
Ssc4d |
A |
G |
5: 135,999,074 (GRCm39) |
L43P |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,437,813 (GRCm39) |
D1324G |
probably damaging |
Het |
Tkt |
T |
G |
14: 30,288,982 (GRCm39) |
I238S |
probably damaging |
Het |
Tmem184b |
A |
T |
15: 79,261,377 (GRCm39) |
N76K |
probably benign |
Het |
Trpm6 |
A |
G |
19: 18,790,857 (GRCm39) |
M631V |
probably damaging |
Het |
Ttll6 |
A |
C |
11: 96,024,655 (GRCm39) |
E15A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,569,296 (GRCm39) |
D27199G |
probably damaging |
Het |
Ubn2 |
A |
T |
6: 38,464,088 (GRCm39) |
|
probably null |
Het |
Ubr5 |
A |
C |
15: 38,018,541 (GRCm39) |
I866M |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,550,406 (GRCm39) |
T2149A |
probably benign |
Het |
Ush2a |
G |
T |
1: 188,529,966 (GRCm39) |
V3252L |
possibly damaging |
Het |
Usp24 |
A |
G |
4: 106,219,377 (GRCm39) |
|
probably null |
Het |
Vill |
T |
A |
9: 118,897,502 (GRCm39) |
M259K |
probably damaging |
Het |
Vldlr |
T |
C |
19: 27,217,290 (GRCm39) |
I411T |
probably damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,831,887 (GRCm39) |
W301R |
probably damaging |
Het |
Vps13b |
G |
A |
15: 35,910,946 (GRCm39) |
S3570N |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,836,821 (GRCm39) |
V1773A |
probably benign |
Het |
Vtn |
A |
G |
11: 78,392,400 (GRCm39) |
D326G |
probably benign |
Het |
Wdr93 |
A |
T |
7: 79,426,511 (GRCm39) |
H592L |
probably damaging |
Het |
Zdhhc19 |
A |
G |
16: 32,317,953 (GRCm39) |
D94G |
probably damaging |
Het |
Zfand4 |
A |
T |
6: 116,291,311 (GRCm39) |
E188V |
probably damaging |
Het |
Zfp523 |
C |
A |
17: 28,420,312 (GRCm39) |
|
probably null |
Het |
Zfp536 |
T |
C |
7: 37,268,309 (GRCm39) |
D369G |
probably damaging |
Het |
Zfp608 |
T |
A |
18: 55,121,372 (GRCm39) |
T72S |
probably benign |
Het |
Zfp804a |
T |
A |
2: 82,088,286 (GRCm39) |
V705E |
probably benign |
Het |
Zfp974 |
T |
C |
7: 27,625,733 (GRCm39) |
T46A |
probably damaging |
Het |
Zkscan4 |
C |
T |
13: 21,663,416 (GRCm39) |
Q52* |
probably null |
Het |
|
Other mutations in Spg11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00426:Spg11
|
APN |
2 |
121,896,041 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00495:Spg11
|
APN |
2 |
121,924,937 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00757:Spg11
|
APN |
2 |
121,901,440 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01304:Spg11
|
APN |
2 |
121,902,771 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01355:Spg11
|
APN |
2 |
121,943,637 (GRCm39) |
missense |
probably benign |
|
IGL01626:Spg11
|
APN |
2 |
121,891,452 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01739:Spg11
|
APN |
2 |
121,945,152 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01835:Spg11
|
APN |
2 |
121,918,705 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02129:Spg11
|
APN |
2 |
121,926,167 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02178:Spg11
|
APN |
2 |
121,927,783 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02199:Spg11
|
APN |
2 |
121,890,034 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02212:Spg11
|
APN |
2 |
121,938,638 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02605:Spg11
|
APN |
2 |
121,922,741 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02635:Spg11
|
APN |
2 |
121,943,549 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02743:Spg11
|
APN |
2 |
121,889,988 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02822:Spg11
|
APN |
2 |
121,905,015 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02992:Spg11
|
APN |
2 |
121,888,879 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03010:Spg11
|
APN |
2 |
121,918,801 (GRCm39) |
missense |
probably damaging |
0.96 |
3-1:Spg11
|
UTSW |
2 |
121,917,371 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4354001:Spg11
|
UTSW |
2 |
121,918,666 (GRCm39) |
missense |
probably damaging |
0.98 |
R0131:Spg11
|
UTSW |
2 |
121,901,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R0206:Spg11
|
UTSW |
2 |
121,886,177 (GRCm39) |
critical splice donor site |
probably null |
|
R0208:Spg11
|
UTSW |
2 |
121,886,177 (GRCm39) |
critical splice donor site |
probably null |
|
R0302:Spg11
|
UTSW |
2 |
121,922,668 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0347:Spg11
|
UTSW |
2 |
121,927,850 (GRCm39) |
missense |
probably damaging |
0.99 |
R0357:Spg11
|
UTSW |
2 |
121,896,713 (GRCm39) |
splice site |
probably benign |
|
R0372:Spg11
|
UTSW |
2 |
121,889,928 (GRCm39) |
frame shift |
probably null |
|
R0715:Spg11
|
UTSW |
2 |
121,915,464 (GRCm39) |
missense |
probably benign |
0.03 |
R0927:Spg11
|
UTSW |
2 |
121,924,968 (GRCm39) |
missense |
probably damaging |
0.99 |
R1163:Spg11
|
UTSW |
2 |
121,901,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R1534:Spg11
|
UTSW |
2 |
121,922,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R1555:Spg11
|
UTSW |
2 |
121,927,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R1569:Spg11
|
UTSW |
2 |
121,932,187 (GRCm39) |
missense |
probably damaging |
0.99 |
R1840:Spg11
|
UTSW |
2 |
121,932,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Spg11
|
UTSW |
2 |
121,890,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R2265:Spg11
|
UTSW |
2 |
121,938,788 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2303:Spg11
|
UTSW |
2 |
121,899,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R2510:Spg11
|
UTSW |
2 |
121,905,791 (GRCm39) |
missense |
probably benign |
0.03 |
R2760:Spg11
|
UTSW |
2 |
121,927,840 (GRCm39) |
missense |
probably damaging |
0.99 |
R2918:Spg11
|
UTSW |
2 |
121,905,782 (GRCm39) |
missense |
probably damaging |
0.99 |
R3195:Spg11
|
UTSW |
2 |
121,913,879 (GRCm39) |
critical splice donor site |
probably null |
|
R3423:Spg11
|
UTSW |
2 |
121,901,534 (GRCm39) |
missense |
probably benign |
0.00 |
R4353:Spg11
|
UTSW |
2 |
121,943,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4407:Spg11
|
UTSW |
2 |
121,905,813 (GRCm39) |
missense |
probably benign |
0.00 |
R4644:Spg11
|
UTSW |
2 |
121,891,510 (GRCm39) |
missense |
probably benign |
0.03 |
R4663:Spg11
|
UTSW |
2 |
121,928,580 (GRCm39) |
critical splice donor site |
probably null |
|
R4684:Spg11
|
UTSW |
2 |
121,895,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R4810:Spg11
|
UTSW |
2 |
121,890,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R4829:Spg11
|
UTSW |
2 |
121,938,936 (GRCm39) |
missense |
probably benign |
0.44 |
R5089:Spg11
|
UTSW |
2 |
121,945,198 (GRCm39) |
nonsense |
probably null |
|
R5362:Spg11
|
UTSW |
2 |
121,891,481 (GRCm39) |
missense |
probably damaging |
0.99 |
R5684:Spg11
|
UTSW |
2 |
121,923,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R5899:Spg11
|
UTSW |
2 |
121,928,680 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5923:Spg11
|
UTSW |
2 |
121,923,959 (GRCm39) |
missense |
probably damaging |
0.98 |
R6052:Spg11
|
UTSW |
2 |
121,927,837 (GRCm39) |
missense |
probably damaging |
0.99 |
R6111:Spg11
|
UTSW |
2 |
121,923,963 (GRCm39) |
missense |
probably damaging |
0.98 |
R6174:Spg11
|
UTSW |
2 |
121,917,286 (GRCm39) |
splice site |
probably null |
|
R6226:Spg11
|
UTSW |
2 |
121,918,743 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6336:Spg11
|
UTSW |
2 |
121,943,440 (GRCm39) |
splice site |
probably null |
|
R6480:Spg11
|
UTSW |
2 |
121,922,786 (GRCm39) |
missense |
probably benign |
0.03 |
R6494:Spg11
|
UTSW |
2 |
121,943,706 (GRCm39) |
missense |
probably damaging |
0.98 |
R6582:Spg11
|
UTSW |
2 |
121,922,773 (GRCm39) |
missense |
probably damaging |
0.99 |
R6714:Spg11
|
UTSW |
2 |
121,926,212 (GRCm39) |
missense |
probably damaging |
0.99 |
R6791:Spg11
|
UTSW |
2 |
121,923,924 (GRCm39) |
missense |
probably damaging |
0.99 |
R6836:Spg11
|
UTSW |
2 |
121,890,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R6928:Spg11
|
UTSW |
2 |
121,900,385 (GRCm39) |
missense |
probably benign |
0.37 |
R7179:Spg11
|
UTSW |
2 |
121,932,270 (GRCm39) |
splice site |
probably null |
|
R7229:Spg11
|
UTSW |
2 |
121,938,585 (GRCm39) |
missense |
probably damaging |
0.98 |
R7337:Spg11
|
UTSW |
2 |
121,915,474 (GRCm39) |
missense |
probably benign |
0.09 |
R7338:Spg11
|
UTSW |
2 |
121,885,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7351:Spg11
|
UTSW |
2 |
121,900,412 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7378:Spg11
|
UTSW |
2 |
121,888,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Spg11
|
UTSW |
2 |
121,924,026 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7505:Spg11
|
UTSW |
2 |
121,905,832 (GRCm39) |
nonsense |
probably null |
|
R7665:Spg11
|
UTSW |
2 |
121,896,748 (GRCm39) |
missense |
probably damaging |
0.99 |
R7685:Spg11
|
UTSW |
2 |
121,899,361 (GRCm39) |
missense |
probably damaging |
0.99 |
R7779:Spg11
|
UTSW |
2 |
121,901,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R7947:Spg11
|
UTSW |
2 |
121,922,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R7958:Spg11
|
UTSW |
2 |
121,923,426 (GRCm39) |
splice site |
probably null |
|
R8024:Spg11
|
UTSW |
2 |
121,927,802 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8033:Spg11
|
UTSW |
2 |
121,917,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Spg11
|
UTSW |
2 |
121,943,637 (GRCm39) |
missense |
probably benign |
|
R8121:Spg11
|
UTSW |
2 |
121,900,348 (GRCm39) |
critical splice donor site |
probably null |
|
R8252:Spg11
|
UTSW |
2 |
121,918,820 (GRCm39) |
splice site |
probably benign |
|
R8358:Spg11
|
UTSW |
2 |
121,910,739 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8362:Spg11
|
UTSW |
2 |
121,948,842 (GRCm39) |
missense |
unknown |
|
R8385:Spg11
|
UTSW |
2 |
121,927,802 (GRCm39) |
missense |
probably benign |
0.22 |
R8406:Spg11
|
UTSW |
2 |
121,923,923 (GRCm39) |
missense |
probably damaging |
0.99 |
R8480:Spg11
|
UTSW |
2 |
121,943,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Spg11
|
UTSW |
2 |
121,901,425 (GRCm39) |
missense |
probably damaging |
0.98 |
R8883:Spg11
|
UTSW |
2 |
121,943,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R8968:Spg11
|
UTSW |
2 |
121,922,687 (GRCm39) |
missense |
probably damaging |
0.99 |
R9008:Spg11
|
UTSW |
2 |
121,900,413 (GRCm39) |
missense |
probably benign |
0.05 |
R9059:Spg11
|
UTSW |
2 |
121,918,788 (GRCm39) |
missense |
probably damaging |
0.99 |
R9296:Spg11
|
UTSW |
2 |
121,945,175 (GRCm39) |
missense |
probably benign |
0.34 |
R9333:Spg11
|
UTSW |
2 |
121,932,244 (GRCm39) |
missense |
probably damaging |
0.99 |
R9657:Spg11
|
UTSW |
2 |
121,910,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R9774:Spg11
|
UTSW |
2 |
121,938,965 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Spg11
|
UTSW |
2 |
121,903,466 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCAGCAGCAGCCAACTTG -3'
(R):5'- TGATGCTTCTTGACCCAGG -3'
Sequencing Primer
(F):5'- AACTTGTGTTGAGAGAGGCTG -3'
(R):5'- TGCTTCTTGACCCAGGCAAGG -3'
|
Posted On |
2015-12-29 |