Incidental Mutation 'R7665:Spg11'
| ID |
591840 |
| 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 |
045739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R7665 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121884001-121948867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121896748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1686
(V1686E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036450]
|
| AlphaFold |
Q3UHA3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036450
AA Change: V1686E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: V1686E
| 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 |
0.1862 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (72/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
G |
5: 115,012,384 (GRCm39) |
|
probably null |
Het |
| A830018L16Rik |
T |
C |
1: 12,042,323 (GRCm39) |
S448P |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 121,838,139 (GRCm39) |
|
probably benign |
Het |
| Ackr2 |
A |
G |
9: 121,738,374 (GRCm39) |
M250V |
probably benign |
Het |
| Actn4 |
A |
G |
7: 28,615,632 (GRCm39) |
I147T |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,647,261 (GRCm39) |
S3093N |
probably damaging |
Het |
| Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Brwd1 |
G |
A |
16: 95,842,543 (GRCm39) |
T798M |
probably benign |
Het |
| Cdk13 |
G |
A |
13: 17,947,138 (GRCm39) |
T540I |
possibly damaging |
Het |
| Cdkn1c |
A |
G |
7: 143,014,371 (GRCm39) |
V25A |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,874,581 (GRCm39) |
E1420G |
unknown |
Het |
| Dbf4 |
G |
A |
5: 8,447,867 (GRCm39) |
P448S |
probably damaging |
Het |
| Dnajb7 |
T |
C |
15: 81,291,620 (GRCm39) |
N239S |
probably benign |
Het |
| Dnttip1 |
A |
G |
2: 164,596,061 (GRCm39) |
D102G |
probably damaging |
Het |
| Dpp8 |
T |
A |
9: 64,986,000 (GRCm39) |
V830D |
probably damaging |
Het |
| Eddm13 |
G |
A |
7: 6,272,891 (GRCm39) |
|
probably null |
Het |
| Eef1g |
T |
C |
19: 8,945,653 (GRCm39) |
V29A |
probably benign |
Het |
| Enpp2 |
T |
A |
15: 54,702,790 (GRCm39) |
Y906F |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,139,069 (GRCm39) |
L23P |
possibly damaging |
Het |
| Exoc1 |
T |
A |
5: 76,691,420 (GRCm39) |
M248K |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,398,157 (GRCm39) |
Y982C |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 38,943,327 (GRCm39) |
A740V |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,812,149 (GRCm39) |
S2823T |
probably benign |
Het |
| Gckr |
T |
C |
5: 31,454,899 (GRCm39) |
|
|
Het |
| Gpr150 |
A |
T |
13: 76,204,093 (GRCm39) |
V284E |
probably damaging |
Het |
| Grtp1 |
T |
G |
8: 13,227,103 (GRCm39) |
I344L |
probably benign |
Het |
| Heatr5a |
T |
A |
12: 52,008,313 (GRCm39) |
N10I |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,802,903 (GRCm39) |
L2109I |
probably damaging |
Het |
| Hs1bp3 |
T |
A |
12: 8,367,935 (GRCm39) |
D61E |
probably damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,572,283 (GRCm39) |
Y58F |
probably benign |
Het |
| Itfg1 |
A |
G |
8: 86,490,979 (GRCm39) |
F317L |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,638,491 (GRCm39) |
I764T |
unknown |
Het |
| Med8 |
A |
C |
4: 118,268,853 (GRCm39) |
|
probably null |
Het |
| Mpeg1 |
C |
A |
19: 12,440,458 (GRCm39) |
P639T |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,072,393 (GRCm39) |
Y562N |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,469,785 (GRCm39) |
L456P |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,833,078 (GRCm39) |
S556P |
probably damaging |
Het |
| Nphp3 |
T |
A |
9: 103,882,592 (GRCm39) |
|
probably null |
Het |
| Nup205 |
T |
C |
6: 35,154,555 (GRCm39) |
V53A |
possibly damaging |
Het |
| Nvl |
A |
T |
1: 180,962,509 (GRCm39) |
S154T |
probably benign |
Het |
| Or10h1 |
G |
T |
17: 33,418,603 (GRCm39) |
G194* |
probably null |
Het |
| Or1e31 |
A |
T |
11: 73,689,787 (GRCm39) |
N265K |
probably benign |
Het |
| Or2ag2 |
A |
T |
7: 106,485,880 (GRCm39) |
V48D |
possibly damaging |
Het |
| Or2h2c |
A |
G |
17: 37,422,283 (GRCm39) |
M197T |
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,523 (GRCm39) |
I280F |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,047,130 (GRCm39) |
|
probably null |
Het |
| Parvg |
T |
C |
15: 84,222,002 (GRCm39) |
I243T |
probably damaging |
Het |
| Paxip1 |
T |
A |
5: 27,970,736 (GRCm39) |
M538L |
unknown |
Het |
| Pgghg |
G |
T |
7: 140,525,382 (GRCm39) |
D428Y |
probably damaging |
Het |
| Pik3cd |
C |
T |
4: 149,738,507 (GRCm39) |
V777M |
possibly damaging |
Het |
| Plcl2 |
A |
C |
17: 50,914,185 (GRCm39) |
K398T |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,301,520 (GRCm39) |
|
probably null |
Het |
| Rbbp6 |
T |
A |
7: 122,589,255 (GRCm39) |
|
probably null |
Het |
| Rbbp6 |
T |
C |
7: 122,593,909 (GRCm39) |
Y514H |
possibly damaging |
Het |
| Scin |
T |
A |
12: 40,119,414 (GRCm39) |
N538I |
probably damaging |
Het |
| Sdcbp |
A |
G |
4: 6,385,144 (GRCm39) |
D121G |
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,872,561 (GRCm39) |
I311T |
probably damaging |
Het |
| Shq1 |
A |
C |
6: 100,550,717 (GRCm39) |
L407W |
probably damaging |
Het |
| Sipa1 |
A |
T |
19: 5,701,699 (GRCm39) |
S979T |
probably benign |
Het |
| Slc25a37 |
G |
T |
14: 69,487,028 (GRCm39) |
T85K |
probably benign |
Het |
| Spag9 |
A |
T |
11: 93,904,480 (GRCm39) |
Q112L |
probably damaging |
Het |
| Stap2 |
A |
G |
17: 56,304,909 (GRCm39) |
V291A |
probably benign |
Het |
| Tnk2 |
C |
T |
16: 32,499,344 (GRCm39) |
R886C |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,611,777 (GRCm39) |
D138E |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,587,756 (GRCm39) |
S1426P |
probably benign |
Het |
| Vav1 |
G |
A |
17: 57,604,086 (GRCm39) |
V163M |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,801,196 (GRCm39) |
K247* |
probably null |
Het |
| Zc2hc1c |
T |
C |
12: 85,343,336 (GRCm39) |
V491A |
possibly damaging |
Het |
| Zfp51 |
A |
G |
17: 21,683,843 (GRCm39) |
T153A |
probably benign |
Het |
| Zyx |
A |
G |
6: 42,333,096 (GRCm39) |
E374G |
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 |
|
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 |
|
|
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'- AAGCCACCGTATAGTTATCCTCTTC -3'
(R):5'- TGTGTCTCCTCAGCCAAGTG -3'
Sequencing Primer
(F):5'- TCATGACCCATGGTTGAGAAC -3'
(R):5'- GCCAAGTGCTGAAGGACACAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation