Incidental Mutation 'R4829:Spg11'
| ID |
372643 |
| 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 |
042445-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R4829 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121884001-121948867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 121938936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 339
(N339K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036450]
|
| AlphaFold |
Q3UHA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036450
AA Change: N339K
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: N339K
| 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
|
| Meta Mutation Damage Score |
0.0681 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
98% (109/111) |
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,780 (GRCm39) |
V1323A |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,773,214 (GRCm39) |
L814P |
probably damaging |
Het |
| Acat1 |
C |
A |
9: 53,502,756 (GRCm39) |
G191V |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,190,500 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
T |
15: 94,224,277 (GRCm39) |
D1184E |
probably benign |
Het |
| Adss1 |
T |
C |
12: 112,601,147 (GRCm39) |
L283P |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,070,272 (GRCm39) |
|
probably null |
Het |
| Arid4b |
T |
A |
13: 14,359,023 (GRCm39) |
D599E |
probably benign |
Het |
| AW146154 |
T |
C |
7: 41,130,057 (GRCm39) |
K353R |
possibly damaging |
Het |
| Axdnd1 |
G |
T |
1: 156,204,216 (GRCm39) |
R547S |
possibly damaging |
Het |
| Bcat1 |
A |
T |
6: 144,961,201 (GRCm39) |
F134Y |
probably damaging |
Het |
| Camk2d |
C |
A |
3: 126,573,646 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
G |
7: 29,400,550 (GRCm39) |
K268T |
probably damaging |
Het |
| Ccar1 |
A |
C |
10: 62,581,114 (GRCm39) |
F1103L |
unknown |
Het |
| Ccdc141 |
T |
A |
2: 76,905,260 (GRCm39) |
E395D |
probably damaging |
Het |
| Cdc37l1 |
A |
G |
19: 28,967,983 (GRCm39) |
T16A |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,931,202 (GRCm39) |
|
probably null |
Het |
| Cfap96 |
T |
C |
8: 46,420,952 (GRCm39) |
I159V |
probably damaging |
Het |
| Cntn5 |
T |
G |
9: 9,976,288 (GRCm39) |
K219Q |
probably damaging |
Het |
| Col23a1 |
C |
A |
11: 51,448,413 (GRCm39) |
A202E |
unknown |
Het |
| Csmd1 |
G |
A |
8: 16,177,310 (GRCm39) |
L1318F |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,028,895 (GRCm39) |
A16V |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,504,696 (GRCm39) |
I1942V |
probably benign |
Het |
| Dab2 |
A |
G |
15: 6,454,162 (GRCm39) |
D224G |
probably damaging |
Het |
| Ddr1 |
A |
T |
17: 35,996,005 (GRCm39) |
C625S |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,796,338 (GRCm39) |
V788A |
probably damaging |
Het |
| Dgcr2 |
T |
C |
16: 17,660,617 (GRCm39) |
E402G |
possibly damaging |
Het |
| Dhcr7 |
T |
G |
7: 143,391,654 (GRCm39) |
I81S |
probably damaging |
Het |
| Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,489,199 (GRCm39) |
T3467I |
probably damaging |
Het |
| Fblim1 |
T |
C |
4: 141,312,020 (GRCm39) |
E235G |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,651,662 (GRCm39) |
M548L |
probably benign |
Het |
| Fstl5 |
T |
C |
3: 76,229,489 (GRCm39) |
Y97H |
probably damaging |
Het |
| Glb1l |
A |
T |
1: 75,176,994 (GRCm39) |
S481T |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,056,407 (GRCm39) |
V22E |
possibly damaging |
Het |
| Grin1 |
A |
G |
2: 25,208,736 (GRCm39) |
S55P |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,756,240 (GRCm39) |
D760G |
probably benign |
Het |
| Hpn |
A |
G |
7: 30,798,300 (GRCm39) |
|
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,372,266 (GRCm39) |
V73A |
probably damaging |
Het |
| Ighv1-42 |
T |
C |
12: 114,900,788 (GRCm39) |
Y80C |
probably benign |
Het |
| Ighv1-64 |
T |
C |
12: 115,471,346 (GRCm39) |
K57R |
probably benign |
Het |
| Klc1 |
T |
C |
12: 111,762,037 (GRCm39) |
I569T |
probably damaging |
Het |
| Klra3 |
T |
G |
6: 130,300,579 (GRCm39) |
K263N |
probably benign |
Het |
| Lrcol1 |
C |
A |
5: 110,502,393 (GRCm39) |
H90N |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,455,368 (GRCm39) |
E921G |
possibly damaging |
Het |
| Mark1 |
G |
A |
1: 184,637,724 (GRCm39) |
R622W |
possibly damaging |
Het |
| Mdga1 |
A |
G |
17: 30,065,343 (GRCm39) |
S696P |
possibly damaging |
Het |
| Mmp1b |
C |
T |
9: 7,370,729 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtnr1a |
T |
C |
8: 45,538,652 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,043,689 (GRCm39) |
I226T |
probably damaging |
Het |
| Ncoa6 |
G |
T |
2: 155,257,147 (GRCm39) |
P799T |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,164,010 (GRCm39) |
|
probably null |
Het |
| Nxph3 |
T |
C |
11: 95,402,321 (GRCm39) |
E31G |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,945,072 (GRCm39) |
I4649V |
probably null |
Het |
| Or10d4b |
A |
T |
9: 39,534,734 (GRCm39) |
H103L |
probably damaging |
Het |
| Or8b12b |
G |
T |
9: 37,684,243 (GRCm39) |
C96F |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,663 (GRCm39) |
Y120N |
probably damaging |
Het |
| Or8h10 |
G |
A |
2: 86,808,918 (GRCm39) |
S74L |
probably damaging |
Het |
| P3h3 |
G |
A |
6: 124,818,601 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,587,797 (GRCm39) |
|
probably null |
Het |
| Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,097,224 (GRCm39) |
S792P |
probably damaging |
Het |
| Plppr4 |
A |
T |
3: 117,129,240 (GRCm39) |
L76M |
possibly damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,709 (GRCm39) |
S205T |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,519,939 (GRCm39) |
D1126N |
possibly damaging |
Het |
| Prrt4 |
G |
A |
6: 29,177,181 (GRCm39) |
S196L |
probably benign |
Het |
| Ptpn21 |
A |
C |
12: 98,655,555 (GRCm39) |
S471A |
probably damaging |
Het |
| Ptprk |
C |
A |
10: 28,456,480 (GRCm39) |
S9* |
probably null |
Het |
| Rassf4 |
A |
T |
6: 116,622,103 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rgs22 |
C |
A |
15: 36,104,034 (GRCm39) |
R142S |
probably damaging |
Het |
| Rit2 |
C |
A |
18: 31,345,726 (GRCm39) |
L73F |
probably damaging |
Het |
| Rrbp1 |
A |
C |
2: 143,831,607 (GRCm39) |
S187A |
probably benign |
Het |
| Rspo2 |
A |
T |
15: 42,956,583 (GRCm39) |
Y83* |
probably null |
Het |
| Scn5a |
C |
T |
9: 119,363,773 (GRCm39) |
V456M |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,382,057 (GRCm39) |
H290L |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,550,623 (GRCm39) |
I452T |
probably damaging |
Het |
| Smc2 |
T |
A |
4: 52,449,612 (GRCm39) |
I198K |
probably damaging |
Het |
| Smim14 |
G |
A |
5: 65,617,946 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,065,493 (GRCm39) |
E2014G |
probably benign |
Het |
| Stk4 |
T |
C |
2: 163,941,747 (GRCm39) |
|
probably null |
Het |
| Sypl1 |
C |
T |
12: 33,017,645 (GRCm39) |
T121M |
probably damaging |
Het |
| Tas2r120 |
T |
A |
6: 132,634,331 (GRCm39) |
F138I |
probably benign |
Het |
| Tcstv4 |
G |
A |
13: 120,769,926 (GRCm39) |
C82Y |
possibly damaging |
Het |
| Tet2 |
A |
C |
3: 133,182,381 (GRCm39) |
C1194W |
possibly damaging |
Het |
| Tex29 |
T |
C |
8: 11,905,668 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf22 |
T |
A |
7: 143,197,067 (GRCm39) |
T91S |
possibly damaging |
Het |
| Tnik |
A |
T |
3: 28,593,690 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
T |
1: 159,685,974 (GRCm39) |
I402F |
probably benign |
Het |
| Unc93b1 |
A |
T |
19: 3,994,293 (GRCm39) |
S475C |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,539,205 (GRCm39) |
E1937D |
probably benign |
Het |
| Vmn1r227 |
A |
T |
17: 20,955,927 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r101 |
G |
A |
17: 19,832,229 (GRCm39) |
V742I |
probably benign |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,635 (GRCm39) |
L3P |
possibly damaging |
Het |
| Zfp882 |
T |
G |
8: 72,668,233 (GRCm39) |
H353Q |
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 |
|
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 |
|
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'- GATCACTGCTCTTCACGTGC -3'
(R):5'- CAAACACTCACTTTTAGGGTCTCC -3'
Sequencing Primer
(F):5'- CACGTGCTCCTTCTGAGG -3'
(R):5'- TGTTTGTTGACAAGGTCTTACTATG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation