Incidental Mutation 'R8810:Spg11'
| ID |
672324 |
| 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 |
068725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R8810 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121884001-121948867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 121901425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 1505
(D1505A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036450]
|
| AlphaFold |
Q3UHA3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036450
AA Change: D1505A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: D1505A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
99% (82/83) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
C |
7: 78,749,452 (GRCm39) |
S1408P |
probably damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,169 (GRCm39) |
V783A |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,525,504 (GRCm39) |
N525S |
probably damaging |
Het |
| Aqp1 |
C |
T |
6: 55,313,606 (GRCm39) |
T44M |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,053,585 (GRCm39) |
Y1305H |
probably damaging |
Het |
| Atg2a |
T |
G |
19: 6,300,651 (GRCm39) |
S743A |
probably benign |
Het |
| AW551984 |
G |
T |
9: 39,511,307 (GRCm39) |
L133I |
probably damaging |
Het |
| Bahcc1 |
C |
A |
11: 120,164,587 (GRCm39) |
P802T |
possibly damaging |
Het |
| Brd8 |
C |
A |
18: 34,743,002 (GRCm39) |
V288L |
probably benign |
Het |
| Carmil2 |
T |
C |
8: 106,412,947 (GRCm39) |
|
probably null |
Het |
| Catspere2 |
G |
A |
1: 177,905,048 (GRCm39) |
E153K |
possibly damaging |
Het |
| Ccdc162 |
C |
T |
10: 41,542,737 (GRCm39) |
R379Q |
probably benign |
Het |
| Cd200l1 |
T |
C |
16: 45,264,199 (GRCm39) |
T120A |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,341,136 (GRCm39) |
L116P |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,796,076 (GRCm39) |
H260Q |
possibly damaging |
Het |
| Cenpq |
A |
G |
17: 41,244,027 (GRCm39) |
V17A |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,803,862 (GRCm39) |
K1074E |
probably damaging |
Het |
| Chil4 |
C |
A |
3: 106,109,121 (GRCm39) |
C394F |
probably damaging |
Het |
| Chst9 |
T |
C |
18: 15,850,983 (GRCm39) |
I28V |
probably benign |
Het |
| Clasp2 |
C |
A |
9: 113,728,649 (GRCm39) |
N873K |
probably damaging |
Het |
| Clec4b2 |
T |
A |
6: 123,158,269 (GRCm39) |
M45K |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,200,048 (GRCm39) |
T3427S |
possibly damaging |
Het |
| Cnih4 |
A |
G |
1: 180,989,777 (GRCm39) |
Y130C |
probably damaging |
Het |
| Cpne9 |
T |
A |
6: 113,281,506 (GRCm39) |
M529K |
probably damaging |
Het |
| Crppa |
A |
T |
12: 36,440,481 (GRCm39) |
N130Y |
probably damaging |
Het |
| Ctsr |
T |
A |
13: 61,309,639 (GRCm39) |
Y190F |
probably damaging |
Het |
| Cyp2j13 |
G |
A |
4: 95,945,153 (GRCm39) |
H351Y |
probably benign |
Het |
| Dixdc1 |
T |
A |
9: 50,613,265 (GRCm39) |
Q230L |
probably damaging |
Het |
| Dpep1 |
A |
T |
8: 123,926,764 (GRCm39) |
I226F |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,805,721 (GRCm39) |
N3076I |
unknown |
Het |
| Ehd2 |
A |
G |
7: 15,691,603 (GRCm39) |
V243A |
probably benign |
Het |
| Etnk2 |
T |
A |
1: 133,306,232 (GRCm39) |
Y353N |
probably benign |
Het |
| Fgg |
G |
T |
3: 82,920,322 (GRCm39) |
G367V |
probably damaging |
Het |
| Gm9772 |
T |
C |
17: 22,225,310 (GRCm39) |
*61Q |
probably null |
Het |
| Grk5 |
T |
G |
19: 61,078,432 (GRCm39) |
D496E |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,909,535 (GRCm39) |
N915S |
probably benign |
Het |
| Iah1 |
G |
T |
12: 21,367,388 (GRCm39) |
Q31H |
probably benign |
Het |
| Insr |
T |
C |
8: 3,219,714 (GRCm39) |
D936G |
probably benign |
Het |
| Ints6 |
A |
C |
14: 62,939,902 (GRCm39) |
V596G |
probably benign |
Het |
| Kcnj16 |
A |
G |
11: 110,915,677 (GRCm39) |
D113G |
possibly damaging |
Het |
| Kdm4b |
A |
T |
17: 56,706,771 (GRCm39) |
I928F |
probably damaging |
Het |
| Lrrc41 |
C |
T |
4: 115,932,488 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
G |
A |
8: 4,285,070 (GRCm39) |
V432I |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,458,501 (GRCm39) |
E336G |
probably benign |
Het |
| Maml2 |
C |
A |
9: 13,532,918 (GRCm39) |
Q711K |
|
Het |
| Map3k14 |
T |
C |
11: 103,118,498 (GRCm39) |
T563A |
possibly damaging |
Het |
| Mcu |
T |
A |
10: 59,303,535 (GRCm39) |
K101* |
probably null |
Het |
| Mettl22 |
T |
A |
16: 8,303,792 (GRCm39) |
V286E |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,845,516 (GRCm39) |
N1396K |
possibly damaging |
Het |
| Mprip |
T |
C |
11: 59,587,851 (GRCm39) |
|
probably benign |
Het |
| Mrpl51 |
C |
T |
6: 125,170,344 (GRCm39) |
L117F |
probably damaging |
Het |
| Myo1d |
C |
A |
11: 80,565,758 (GRCm39) |
V356F |
probably damaging |
Het |
| Myo1d |
T |
A |
11: 80,567,758 (GRCm39) |
I241F |
probably benign |
Het |
| Naalad2 |
A |
T |
9: 18,297,230 (GRCm39) |
|
probably benign |
Het |
| Nacad |
T |
C |
11: 6,552,853 (GRCm39) |
T113A |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,352,843 (GRCm39) |
|
probably benign |
Het |
| Or10b1 |
G |
A |
10: 78,356,284 (GRCm39) |
V281M |
possibly damaging |
Het |
| Or2z2 |
T |
C |
11: 58,345,936 (GRCm39) |
T280A |
possibly damaging |
Het |
| Or56b2 |
T |
A |
7: 104,337,387 (GRCm39) |
I55N |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,626 (GRCm39) |
I213N |
possibly damaging |
Het |
| Or5w1 |
T |
C |
2: 87,486,591 (GRCm39) |
I225V |
possibly damaging |
Het |
| Or6z3 |
T |
C |
7: 6,463,763 (GRCm39) |
L85P |
probably damaging |
Het |
| Osbpl3 |
T |
C |
6: 50,328,852 (GRCm39) |
D117G |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,773,981 (GRCm39) |
R318* |
probably null |
Het |
| Pcdhb18 |
A |
G |
18: 37,623,374 (GRCm39) |
I235V |
probably benign |
Het |
| Pex16 |
T |
G |
2: 92,209,366 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,248,034 (GRCm39) |
M489L |
probably benign |
Het |
| Pmepa1 |
C |
A |
2: 173,069,628 (GRCm39) |
G271V |
probably damaging |
Het |
| Safb |
A |
G |
17: 56,910,579 (GRCm39) |
E659G |
unknown |
Het |
| Scn9a |
T |
C |
2: 66,332,010 (GRCm39) |
T1289A |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,617,596 (GRCm39) |
D27G |
possibly damaging |
Het |
| Serpina1f |
A |
G |
12: 103,660,240 (GRCm39) |
V14A |
probably benign |
Het |
| Serpinb9b |
C |
A |
13: 33,213,452 (GRCm39) |
T3N |
possibly damaging |
Het |
| Sfxn5 |
C |
T |
6: 85,206,182 (GRCm39) |
M315I |
probably benign |
Het |
| Slc9b2 |
A |
G |
3: 135,035,530 (GRCm39) |
D333G |
probably benign |
Het |
| Sostdc1 |
A |
G |
12: 36,367,229 (GRCm39) |
N135S |
possibly damaging |
Het |
| Spmip8 |
A |
T |
8: 96,047,883 (GRCm39) |
|
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,869,279 (GRCm39) |
N34S |
probably benign |
Het |
| Tcerg1l |
C |
A |
7: 137,811,526 (GRCm39) |
R556L |
possibly damaging |
Het |
| Tcp11l1 |
T |
C |
2: 104,518,763 (GRCm39) |
K311R |
probably benign |
Het |
| Trbv16 |
T |
G |
6: 41,128,972 (GRCm39) |
F52C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,726,016 (GRCm39) |
R6073S |
unknown |
Het |
| Uba1y |
T |
C |
Y: 828,818 (GRCm39) |
I542T |
possibly damaging |
Het |
| Vmn1r214 |
T |
C |
13: 23,219,082 (GRCm39) |
I192T |
probably benign |
Het |
| Vmn2r67 |
C |
T |
7: 84,786,346 (GRCm39) |
C553Y |
probably damaging |
Het |
| Zdhhc17 |
G |
T |
10: 110,784,121 (GRCm39) |
H452N |
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 |
|
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 |
|
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'- AGGAATGCTATGTTGACACCC -3'
(R):5'- GGTTTTCTCACAAGCTGATTCC -3'
Sequencing Primer
(F):5'- AATGCTATGTTGACACCCTGAGG -3'
(R):5'- GTCCATCTGTGTGATCGAGGCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation