Incidental Mutation 'R1929:Spg11'
| ID |
215141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spg11
|
| Ensembl Gene |
ENSMUSG00000033396 |
| Gene Name |
SPG11, spatacsin vesicle trafficking associated |
| Synonyms |
6030465E24Rik, C530005A01Rik, spastic paraplegia 11 |
| MMRRC Submission |
039947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R1929 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121884001-121948867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121890688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 2044
(V2044M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028668]
[ENSMUST00000036450]
|
| AlphaFold |
Q3UHA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028668
|
| SMART Domains |
Protein: ENSMUSP00000028668
Gene: ENSMUSG00000027236
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:eIF3_subunit
|
14 |
261 |
7.5e-66 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036450
AA Change: V2044M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: V2044M
| 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 |
|
| Meta Mutation Damage Score |
0.1595 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
| Validation Efficiency |
98% (107/109) |
| 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: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
A |
T |
1: 165,337,866 (GRCm39) |
E160V |
probably damaging |
Het |
| Amdhd2 |
T |
C |
17: 24,376,860 (GRCm39) |
|
probably null |
Het |
| Angel1 |
A |
C |
12: 86,749,093 (GRCm39) |
L656V |
probably damaging |
Het |
| Ankrd12 |
G |
A |
17: 66,293,681 (GRCm39) |
S584L |
possibly damaging |
Het |
| Apbb2 |
T |
A |
5: 66,464,958 (GRCm39) |
N679Y |
probably benign |
Het |
| Arid3c |
T |
A |
4: 41,724,744 (GRCm39) |
I364F |
probably damaging |
Het |
| Bcan |
T |
A |
3: 87,900,401 (GRCm39) |
S611C |
probably damaging |
Het |
| Bnip3 |
T |
G |
7: 138,496,359 (GRCm39) |
|
silent |
Het |
| Btc |
T |
C |
5: 91,510,260 (GRCm39) |
Y111C |
probably damaging |
Het |
| Carnmt1 |
T |
C |
19: 18,680,734 (GRCm39) |
L336P |
probably damaging |
Het |
| Ccdc83 |
C |
T |
7: 89,873,285 (GRCm39) |
V357I |
probably damaging |
Het |
| Cd2bp2 |
T |
C |
7: 126,793,050 (GRCm39) |
D324G |
probably benign |
Het |
| Cdc20b |
A |
G |
13: 113,208,451 (GRCm39) |
T216A |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,416,059 (GRCm39) |
E230G |
probably benign |
Het |
| Chst11 |
T |
C |
10: 83,027,004 (GRCm39) |
Y144H |
probably damaging |
Het |
| Cracr2a |
T |
A |
6: 127,584,261 (GRCm39) |
F107I |
probably damaging |
Het |
| Cyfip1 |
G |
T |
7: 55,549,705 (GRCm39) |
R624L |
probably null |
Het |
| Cyp27b1 |
T |
A |
10: 126,884,181 (GRCm39) |
V11D |
probably damaging |
Het |
| Ddc |
T |
C |
11: 11,785,764 (GRCm39) |
N308D |
probably damaging |
Het |
| Des |
T |
G |
1: 75,340,137 (GRCm39) |
M348R |
probably damaging |
Het |
| Dis3l |
T |
A |
9: 64,238,165 (GRCm39) |
D109V |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,574,352 (GRCm39) |
I2136F |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,867,224 (GRCm39) |
S2785G |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,376,471 (GRCm39) |
V235G |
probably damaging |
Het |
| Dtx3l |
A |
T |
16: 35,754,059 (GRCm39) |
D182E |
possibly damaging |
Het |
| Efcab6 |
A |
G |
15: 83,777,163 (GRCm39) |
|
probably benign |
Het |
| Elac2 |
T |
A |
11: 64,870,015 (GRCm39) |
S27T |
probably benign |
Het |
| Emsy |
T |
G |
7: 98,275,830 (GRCm39) |
K352N |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,238,047 (GRCm39) |
N814S |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,868 (GRCm39) |
V574A |
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,727,212 (GRCm39) |
E469G |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,661,424 (GRCm39) |
D286E |
probably damaging |
Het |
| Fmo4 |
A |
T |
1: 162,626,616 (GRCm39) |
I310N |
possibly damaging |
Het |
| Focad |
A |
G |
4: 88,260,449 (GRCm39) |
N902D |
unknown |
Het |
| Focad |
A |
G |
4: 88,315,416 (GRCm39) |
S1525G |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,815,296 (GRCm39) |
W1338R |
probably benign |
Het |
| Fry |
A |
G |
5: 150,324,389 (GRCm39) |
I1151V |
probably null |
Het |
| Garin5b |
T |
A |
7: 4,761,186 (GRCm39) |
T509S |
probably benign |
Het |
| Gm10076 |
T |
G |
14: 105,919,304 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5698 |
T |
G |
1: 31,017,042 (GRCm39) |
D3A |
probably damaging |
Het |
| Gngt2 |
C |
T |
11: 95,735,972 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,562,193 (GRCm39) |
|
probably null |
Het |
| Gtf2h3 |
A |
T |
5: 124,740,262 (GRCm39) |
|
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,253,677 (GRCm39) |
T35A |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,266,180 (GRCm39) |
S679G |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,470,716 (GRCm39) |
C2214S |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kcnk16 |
A |
G |
14: 20,315,347 (GRCm39) |
V72A |
probably damaging |
Het |
| Lipa |
T |
A |
19: 34,488,290 (GRCm39) |
R119* |
probably null |
Het |
| Matr3 |
T |
A |
18: 35,721,378 (GRCm39) |
|
probably benign |
Het |
| Med13l |
T |
G |
5: 118,866,898 (GRCm39) |
F651V |
probably benign |
Het |
| Mfsd11 |
T |
C |
11: 116,764,740 (GRCm39) |
V388A |
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,299,794 (GRCm39) |
V1747I |
possibly damaging |
Het |
| Mms22l |
T |
C |
4: 24,535,936 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
G |
17: 35,263,366 (GRCm39) |
I154T |
probably benign |
Het |
| Myo5b |
G |
T |
18: 74,866,996 (GRCm39) |
L1382F |
probably damaging |
Het |
| Ncbp2 |
T |
C |
16: 31,775,769 (GRCm39) |
Y138H |
probably damaging |
Het |
| Ndufv1 |
C |
A |
19: 4,058,347 (GRCm39) |
R359L |
probably benign |
Het |
| Ntrk3 |
A |
C |
7: 78,166,471 (GRCm39) |
|
probably null |
Het |
| Or1e1c |
T |
A |
11: 73,266,427 (GRCm39) |
V287E |
probably damaging |
Het |
| Or4a15 |
A |
G |
2: 89,193,353 (GRCm39) |
V140A |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,705 (GRCm39) |
H54L |
possibly damaging |
Het |
| P4ha1 |
A |
G |
10: 59,206,859 (GRCm39) |
E523G |
probably damaging |
Het |
| Per3 |
T |
A |
4: 151,103,342 (GRCm39) |
Y530F |
probably damaging |
Het |
| Pes1 |
C |
A |
11: 3,919,524 (GRCm39) |
L66I |
probably damaging |
Het |
| Pigr |
G |
A |
1: 130,774,399 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,786,197 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,651,956 (GRCm39) |
K378N |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,931,776 (GRCm39) |
|
probably null |
Het |
| Pramel22 |
G |
A |
4: 143,380,712 (GRCm39) |
T437I |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,472,681 (GRCm39) |
|
probably null |
Het |
| Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
| Psma5-ps |
A |
G |
10: 85,149,595 (GRCm39) |
|
noncoding transcript |
Het |
| Rab3gap2 |
T |
A |
1: 185,015,739 (GRCm39) |
|
probably null |
Het |
| Rgs3 |
A |
G |
4: 62,620,384 (GRCm39) |
I537V |
probably damaging |
Het |
| Rhobtb2 |
T |
G |
14: 70,033,893 (GRCm39) |
D444A |
probably damaging |
Het |
| Rnf40 |
T |
C |
7: 127,190,956 (GRCm39) |
S314P |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,500,302 (GRCm39) |
C565* |
probably null |
Het |
| Samd3 |
A |
G |
10: 26,139,884 (GRCm39) |
|
probably benign |
Het |
| Sec61a2 |
A |
G |
2: 5,878,547 (GRCm39) |
|
probably benign |
Het |
| Serpina3m |
G |
A |
12: 104,355,581 (GRCm39) |
A83T |
probably damaging |
Het |
| Serpinb13 |
A |
T |
1: 106,926,756 (GRCm39) |
I251L |
possibly damaging |
Het |
| Sez6 |
C |
T |
11: 77,863,758 (GRCm39) |
T439I |
probably damaging |
Het |
| Shc1 |
G |
A |
3: 89,330,849 (GRCm39) |
G91S |
probably damaging |
Het |
| Slc26a2 |
A |
G |
18: 61,331,650 (GRCm39) |
C594R |
possibly damaging |
Het |
| Specc1l |
C |
T |
10: 75,081,438 (GRCm39) |
S278F |
probably damaging |
Het |
| Stx18 |
T |
A |
5: 38,285,383 (GRCm39) |
|
probably null |
Het |
| Suclg2 |
T |
C |
6: 95,566,075 (GRCm39) |
|
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,681 (GRCm39) |
H158L |
probably damaging |
Het |
| Tmem131 |
A |
G |
1: 36,851,352 (GRCm39) |
V966A |
possibly damaging |
Het |
| Tram1l1 |
T |
A |
3: 124,115,635 (GRCm39) |
I265N |
probably damaging |
Het |
| Trim58 |
T |
A |
11: 58,531,493 (GRCm39) |
F67Y |
possibly damaging |
Het |
| Ttc19 |
A |
G |
11: 62,172,650 (GRCm39) |
Q74R |
probably benign |
Het |
| Usp7 |
T |
C |
16: 8,516,333 (GRCm39) |
S649G |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,487,124 (GRCm39) |
Y115C |
possibly damaging |
Het |
| Zfp444 |
T |
C |
7: 6,192,554 (GRCm39) |
C191R |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,821,274 (GRCm39) |
F151L |
probably damaging |
Het |
| Zfp451 |
G |
A |
1: 33,822,937 (GRCm39) |
P99S |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,352 (GRCm39) |
C648S |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,040,777 (GRCm39) |
Y58H |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,819,748 (GRCm39) |
V1069A |
probably benign |
Het |
| Zfp938 |
C |
T |
10: 82,061,381 (GRCm39) |
G413D |
probably damaging |
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 |
|
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 |
|
R4771:Spg11
|
UTSW |
2 |
121,895,963 (GRCm39) |
nonsense |
probably null |
|
|
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'- GACAAGGGCATTATTTCAGAAGC -3'
(R):5'- TTGCTGAGGTCAGGCAGTAG -3'
Sequencing Primer
(F):5'- GGGCATTATTTCAGAAGCAGAATTAC -3'
(R):5'- GCTTCTAAAAATGACTCTGCTCCTG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation