Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,547,057 (GRCm39) |
|
probably benign |
Het |
Atp6v1h |
A |
T |
1: 5,154,677 (GRCm39) |
T2S |
probably benign |
Het |
Bcl11b |
G |
A |
12: 107,932,036 (GRCm39) |
P179S |
probably benign |
Het |
Cacna1a |
C |
T |
8: 85,306,687 (GRCm39) |
|
probably benign |
Het |
Ccdc146 |
C |
T |
5: 21,502,004 (GRCm39) |
|
probably null |
Het |
Ccdc61 |
T |
C |
7: 18,626,461 (GRCm39) |
D128G |
probably damaging |
Het |
Cd55 |
A |
G |
1: 130,387,313 (GRCm39) |
|
probably benign |
Het |
Cdk7 |
C |
A |
13: 100,855,812 (GRCm39) |
E99* |
probably null |
Het |
Cfap96 |
A |
T |
8: 46,421,198 (GRCm39) |
S108R |
probably damaging |
Het |
Cox8a |
A |
T |
19: 7,194,874 (GRCm39) |
S2T |
probably damaging |
Het |
Cracdl |
A |
C |
1: 37,663,337 (GRCm39) |
S854A |
probably benign |
Het |
Dennd5a |
A |
G |
7: 109,498,998 (GRCm39) |
I955T |
possibly damaging |
Het |
Dop1a |
A |
C |
9: 86,394,705 (GRCm39) |
E602A |
probably benign |
Het |
Ephx4 |
T |
C |
5: 107,560,944 (GRCm39) |
L32S |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,138,555 (GRCm39) |
D493E |
probably benign |
Het |
Frmd4b |
A |
T |
6: 97,300,610 (GRCm39) |
|
probably benign |
Het |
Fzd1 |
A |
T |
5: 4,806,037 (GRCm39) |
M515K |
possibly damaging |
Het |
Gli2 |
A |
G |
1: 118,818,138 (GRCm39) |
|
probably benign |
Het |
Gm12887 |
T |
A |
4: 121,473,666 (GRCm39) |
K61N |
probably damaging |
Het |
Grin2a |
A |
T |
16: 9,487,671 (GRCm39) |
V409D |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,900,201 (GRCm39) |
I227V |
probably benign |
Het |
Helz2 |
T |
G |
2: 180,870,614 (GRCm39) |
D2879A |
possibly damaging |
Het |
Itpr2 |
T |
C |
6: 146,224,631 (GRCm39) |
N1453S |
probably benign |
Het |
Itpr3 |
C |
A |
17: 27,317,296 (GRCm39) |
S817Y |
probably damaging |
Het |
Lin7c |
T |
A |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
Ly75 |
T |
C |
2: 60,152,262 (GRCm39) |
E1097G |
probably benign |
Het |
Mcm10 |
T |
C |
2: 4,996,218 (GRCm39) |
N882D |
probably damaging |
Het |
Mettl13 |
A |
T |
1: 162,373,750 (GRCm39) |
L167Q |
probably damaging |
Het |
Morn2 |
A |
T |
17: 80,602,942 (GRCm39) |
M1L |
probably benign |
Het |
Mybph |
G |
T |
1: 134,121,590 (GRCm39) |
V88L |
probably damaging |
Het |
Nefm |
T |
A |
14: 68,358,648 (GRCm39) |
|
probably benign |
Het |
Nf1 |
A |
G |
11: 79,362,377 (GRCm39) |
E1497G |
probably damaging |
Het |
Or2j3 |
T |
C |
17: 38,615,702 (GRCm39) |
S217G |
possibly damaging |
Het |
Or4k37 |
T |
A |
2: 111,158,870 (GRCm39) |
Y35* |
probably null |
Het |
Or51ah3 |
A |
G |
7: 103,210,244 (GRCm39) |
K187E |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,703 (GRCm39) |
T79S |
possibly damaging |
Het |
Phf8-ps |
A |
T |
17: 33,285,696 (GRCm39) |
W369R |
probably damaging |
Het |
Plcd3 |
C |
G |
11: 102,968,411 (GRCm39) |
W382S |
probably damaging |
Het |
Plxna1 |
T |
A |
6: 89,306,721 (GRCm39) |
I1370F |
possibly damaging |
Het |
Qng1 |
T |
C |
13: 58,531,980 (GRCm39) |
D192G |
probably damaging |
Het |
Rarb |
G |
A |
14: 16,509,066 (GRCm38) |
R106C |
probably damaging |
Het |
Rps6ka5 |
G |
A |
12: 100,644,839 (GRCm39) |
T37I |
probably damaging |
Het |
Runx1 |
G |
T |
16: 92,441,029 (GRCm39) |
|
probably benign |
Het |
Scube1 |
A |
G |
15: 83,518,937 (GRCm39) |
V301A |
probably damaging |
Het |
Sema3a |
A |
T |
5: 13,450,004 (GRCm39) |
N27I |
possibly damaging |
Het |
Slc22a5 |
T |
C |
11: 53,782,032 (GRCm39) |
S112G |
probably benign |
Het |
Slc25a45 |
T |
C |
19: 5,930,495 (GRCm39) |
F3L |
probably damaging |
Het |
Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
Slfn10-ps |
A |
G |
11: 82,921,126 (GRCm39) |
|
noncoding transcript |
Het |
Slit2 |
C |
A |
5: 48,439,068 (GRCm39) |
C1077* |
probably null |
Het |
Spn |
A |
G |
7: 126,735,494 (GRCm39) |
F82L |
possibly damaging |
Het |
Tbccd1 |
A |
G |
16: 22,660,655 (GRCm39) |
W54R |
probably damaging |
Het |
Ucp1 |
G |
T |
8: 84,017,233 (GRCm39) |
E8* |
probably null |
Het |
Unc80 |
A |
T |
1: 66,545,782 (GRCm39) |
|
probably benign |
Het |
Vsnl1 |
A |
T |
12: 11,436,987 (GRCm39) |
|
probably null |
Het |
Zdhhc11 |
C |
T |
13: 74,130,805 (GRCm39) |
Q295* |
probably null |
Het |
Zfp457 |
T |
A |
13: 67,442,098 (GRCm39) |
H63L |
probably damaging |
Het |
|
Other mutations in Slc15a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00843:Slc15a3
|
APN |
19 |
10,830,627 (GRCm39) |
missense |
probably null |
0.60 |
IGL01131:Slc15a3
|
APN |
19 |
10,834,986 (GRCm39) |
unclassified |
probably benign |
|
IGL02098:Slc15a3
|
APN |
19 |
10,826,042 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02470:Slc15a3
|
APN |
19 |
10,830,534 (GRCm39) |
missense |
probably benign |
|
IGL03078:Slc15a3
|
APN |
19 |
10,834,609 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03197:Slc15a3
|
APN |
19 |
10,832,443 (GRCm39) |
critical splice donor site |
probably null |
|
R0019:Slc15a3
|
UTSW |
19 |
10,833,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Slc15a3
|
UTSW |
19 |
10,833,350 (GRCm39) |
missense |
probably damaging |
0.99 |
R0133:Slc15a3
|
UTSW |
19 |
10,820,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R1079:Slc15a3
|
UTSW |
19 |
10,833,344 (GRCm39) |
missense |
probably benign |
0.02 |
R1595:Slc15a3
|
UTSW |
19 |
10,831,675 (GRCm39) |
missense |
probably benign |
|
R1644:Slc15a3
|
UTSW |
19 |
10,834,595 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1912:Slc15a3
|
UTSW |
19 |
10,825,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R2074:Slc15a3
|
UTSW |
19 |
10,834,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R2397:Slc15a3
|
UTSW |
19 |
10,820,407 (GRCm39) |
missense |
probably benign |
|
R4758:Slc15a3
|
UTSW |
19 |
10,831,726 (GRCm39) |
critical splice donor site |
probably null |
|
R4948:Slc15a3
|
UTSW |
19 |
10,820,410 (GRCm39) |
missense |
probably benign |
0.09 |
R5138:Slc15a3
|
UTSW |
19 |
10,833,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R5319:Slc15a3
|
UTSW |
19 |
10,833,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R5646:Slc15a3
|
UTSW |
19 |
10,820,574 (GRCm39) |
missense |
probably benign |
0.19 |
R6145:Slc15a3
|
UTSW |
19 |
10,834,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R6606:Slc15a3
|
UTSW |
19 |
10,826,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9038:Slc15a3
|
UTSW |
19 |
10,820,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R9075:Slc15a3
|
UTSW |
19 |
10,826,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R9639:Slc15a3
|
UTSW |
19 |
10,820,717 (GRCm39) |
nonsense |
probably null |
|
Z1176:Slc15a3
|
UTSW |
19 |
10,825,922 (GRCm39) |
missense |
probably null |
1.00 |
|
Genotyping |
Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.
PCR Primers
R00550060_PCR_F: 5’- TCCTAAATACCGGGTGACGTAGGC-3’
R00550060_PCR_R: 5’- TTCAAGCTGTTGAGGTAGAGCACG-3’ Sequencing Primers
R00550060_SEQ_F: 5’- CATTGAGGCCCAGGTATCATAAG-3’
R00550060_SEQ_R: 5’- CACGAGGTTGGAGGTGACAC-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C hold The following sequence of 763 nucleotides is amplified: tcctaaatac cgggtgacgt aggcagccac agggccagta aaaaggggaa gcccagggtt
tcttaagaag cagaaaaagg gacagaggct aagctgagag gaagagccag aggggactaa
ggaaggaaga gaagcagtca agcaaaaagg agtgtgtaga ggaggtggcc gggccagggg
agacattgag gcccaggtat cataagagaa ggggacaatt agaaaaggca gttaaccggg
gacactagag gaaagggggg ccgggaggat aaggtagtgg agcaagcagg atgatggggt
agggttgggg gggggggggt agactaggcc agagcagagg aaggaaagga gacgatttga
tagaagcaca ggggagatga acaagaagaa ctgggagggg aaggagtgag tggagagttc
aagtggagat agaaactagg tagcaaggag agggacctga gggaaaaaga gagagagaac
gacacggggt gagaaaagag ggcgatcagg gttaggggag aggaggggag gacagaggag
agagtctggg tcacggagac aggaaggcca ggatgtctgc ccctcgcgcg gaagagcaac
caagcaggtc cggagagcga caaccgctgg tggcccgagg cccgcgggga ccacgacggt
ggagacggac agctgctgct gcggtgctgc tagtgcagat gctggaacgc gctgccttct
ttggtgtcac ctccaacctc gtgctctacc tcaacagctt gaa Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = G>T).
|