Incidental Mutation 'R2265:Spg11'
| ID |
244047 |
| 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 |
040265-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R2265 (G1)
|
| Quality Score |
207 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121884001-121948867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121938788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 389
(C389S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036450]
|
| AlphaFold |
Q3UHA3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036450
AA Change: C389S
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: C389S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135847
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
C |
1: 12,042,328 (GRCm39) |
|
probably null |
Het |
| Aadac |
T |
A |
3: 59,944,737 (GRCm39) |
D136E |
probably damaging |
Het |
| Abca16 |
A |
G |
7: 120,030,383 (GRCm39) |
D165G |
probably benign |
Het |
| Adam24 |
T |
A |
8: 41,133,110 (GRCm39) |
S193T |
possibly damaging |
Het |
| Adra2b |
T |
C |
2: 127,205,791 (GRCm39) |
S103P |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,263,675 (GRCm39) |
G173R |
probably damaging |
Het |
| Alg11 |
T |
A |
8: 22,555,630 (GRCm39) |
V255E |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,120,679 (GRCm39) |
D857E |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,065,475 (GRCm39) |
F4115S |
possibly damaging |
Het |
| Bdkrb2 |
A |
G |
12: 105,558,484 (GRCm39) |
T242A |
probably benign |
Het |
| Cdca7 |
T |
C |
2: 72,312,834 (GRCm39) |
L190P |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,967,397 (GRCm39) |
T2180A |
probably benign |
Het |
| Cep41 |
T |
A |
6: 30,660,915 (GRCm39) |
I126F |
possibly damaging |
Het |
| Col16a1 |
C |
A |
4: 129,946,711 (GRCm39) |
H111Q |
probably benign |
Het |
| Cops3 |
T |
C |
11: 59,718,716 (GRCm39) |
T193A |
probably benign |
Het |
| Dbr1 |
G |
A |
9: 99,461,463 (GRCm39) |
V153M |
probably damaging |
Het |
| Ddx4 |
A |
G |
13: 112,757,810 (GRCm39) |
Y290H |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,240,107 (GRCm39) |
S461R |
possibly damaging |
Het |
| Dipk2b |
A |
G |
X: 18,289,926 (GRCm39) |
S179P |
possibly damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,413,200 (GRCm39) |
N372S |
probably benign |
Het |
| Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,818,525 (GRCm39) |
V1190F |
probably damaging |
Het |
| Exosc1 |
A |
G |
19: 41,919,857 (GRCm39) |
S54P |
probably damaging |
Het |
| Fbxw22 |
C |
T |
9: 109,213,062 (GRCm39) |
R295K |
probably benign |
Het |
| Foxo1 |
T |
C |
3: 52,253,333 (GRCm39) |
S499P |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 51,940,528 (GRCm39) |
D1444G |
possibly damaging |
Het |
| Hspa2 |
T |
G |
12: 76,452,962 (GRCm39) |
I552S |
probably benign |
Het |
| Imp4 |
T |
A |
1: 34,482,928 (GRCm39) |
I173N |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,905,873 (GRCm39) |
I352V |
possibly damaging |
Het |
| Kcnh6 |
G |
A |
11: 105,924,643 (GRCm39) |
R816Q |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kcnip3 |
G |
T |
2: 127,306,981 (GRCm39) |
A173D |
probably benign |
Het |
| Kir3dl1 |
A |
G |
X: 135,425,784 (GRCm39) |
R53G |
probably benign |
Het |
| Klhl31 |
A |
G |
9: 77,557,440 (GRCm39) |
D52G |
possibly damaging |
Het |
| Klk1b21 |
T |
C |
7: 43,753,863 (GRCm39) |
I49T |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,868,932 (GRCm39) |
I2838F |
probably damaging |
Het |
| Lilrb4a |
T |
A |
10: 51,367,633 (GRCm39) |
Y58* |
probably null |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
G |
4: 81,301,628 (GRCm39) |
S266P |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mroh7 |
T |
C |
4: 106,578,124 (GRCm39) |
N185D |
probably benign |
Het |
| Mybphl |
A |
G |
3: 108,272,317 (GRCm39) |
E2G |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,500,185 (GRCm39) |
D937G |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,930,539 (GRCm39) |
M1799T |
probably damaging |
Het |
| Nr4a2 |
T |
A |
2: 57,002,018 (GRCm39) |
D145V |
possibly damaging |
Het |
| Ntmt1 |
C |
A |
2: 30,710,472 (GRCm39) |
N58K |
probably benign |
Het |
| Or10ak16 |
A |
T |
4: 118,751,071 (GRCm39) |
R264W |
probably damaging |
Het |
| Or2m12 |
A |
G |
16: 19,105,305 (GRCm39) |
Y63H |
probably damaging |
Het |
| Or4f54 |
A |
G |
2: 111,123,524 (GRCm39) |
T304A |
probably benign |
Het |
| Or51f1d |
G |
A |
7: 102,701,344 (GRCm39) |
V280I |
probably benign |
Het |
| Or52n20 |
T |
C |
7: 104,320,067 (GRCm39) |
F53L |
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,286,558 (GRCm39) |
Y19C |
possibly damaging |
Het |
| Ovch2 |
A |
T |
7: 107,383,782 (GRCm39) |
M521K |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,117,449 (GRCm39) |
M110V |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,992 (GRCm39) |
N165S |
probably damaging |
Het |
| Pcdhb19 |
A |
T |
18: 37,630,736 (GRCm39) |
H177L |
probably damaging |
Het |
| Phf8 |
T |
C |
X: 150,355,597 (GRCm39) |
L520S |
possibly damaging |
Het |
| Pjvk |
T |
G |
2: 76,487,797 (GRCm39) |
S230A |
possibly damaging |
Het |
| Plch2 |
T |
C |
4: 155,077,461 (GRCm39) |
E423G |
probably benign |
Het |
| Rad9b |
T |
C |
5: 122,489,405 (GRCm39) |
Y41C |
probably damaging |
Het |
| Ranbp3l |
A |
T |
15: 9,057,194 (GRCm39) |
I286F |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,996,161 (GRCm39) |
V739D |
probably damaging |
Het |
| Slc35a3 |
T |
C |
3: 116,467,285 (GRCm39) |
K325E |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 99,969,182 (GRCm39) |
|
probably null |
Het |
| Srsf4 |
T |
C |
4: 131,624,993 (GRCm39) |
V130A |
probably damaging |
Het |
| Taar8b |
T |
C |
10: 23,967,270 (GRCm39) |
N308S |
probably damaging |
Het |
| Tas2r117 |
T |
A |
6: 132,780,188 (GRCm39) |
C109S |
probably benign |
Het |
| Tlr5 |
T |
A |
1: 182,802,600 (GRCm39) |
S635T |
possibly damaging |
Het |
| Ttc21a |
G |
T |
9: 119,788,074 (GRCm39) |
C833F |
possibly damaging |
Het |
| Vash2 |
T |
C |
1: 190,682,410 (GRCm39) |
N347D |
probably damaging |
Het |
| Vcp |
G |
A |
4: 42,980,833 (GRCm39) |
A759V |
possibly damaging |
Het |
| Vmn2r18 |
T |
C |
5: 151,510,127 (GRCm39) |
E82G |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,828,229 (GRCm39) |
V1461A |
possibly damaging |
Het |
| Zfp616 |
T |
C |
11: 73,976,289 (GRCm39) |
Y853H |
possibly 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 |
|
R1929:Spg11
|
UTSW |
2 |
121,890,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAACACTGCATGCTCTGGGTC -3'
(R):5'- AATGGGTGCTAAGTGCTGCC -3'
Sequencing Primer
(F):5'- TGCATGCTCTGGGTCTCCAAG -3'
(R):5'- GTGCTAAGTGCTGCCCTGTC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation