Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700037C18Rik |
T |
C |
16: 3,724,039 (GRCm39) |
R162G |
probably benign |
Het |
Adamtsl4 |
T |
A |
3: 95,592,807 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,711,898 (GRCm39) |
L306H |
probably damaging |
Het |
Aknad1 |
T |
A |
3: 108,659,452 (GRCm39) |
Y155* |
probably null |
Het |
Aldh6a1 |
C |
T |
12: 84,488,622 (GRCm39) |
R88H |
possibly damaging |
Het |
Apc2 |
G |
C |
10: 80,147,179 (GRCm39) |
K715N |
probably damaging |
Het |
Arhgap45 |
G |
A |
10: 79,864,811 (GRCm39) |
V798M |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,163,881 (GRCm39) |
T437A |
probably benign |
Het |
Cdan1 |
A |
G |
2: 120,561,220 (GRCm39) |
F183L |
probably damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Cntnap4 |
A |
G |
8: 113,608,462 (GRCm39) |
E1294G |
possibly damaging |
Het |
Crybg3 |
C |
A |
16: 59,350,561 (GRCm39) |
G2607V |
probably damaging |
Het |
Dhx29 |
G |
T |
13: 113,072,132 (GRCm39) |
|
probably null |
Het |
Dmrtb1 |
T |
A |
4: 107,541,322 (GRCm39) |
H13L |
probably damaging |
Het |
Echdc2 |
A |
G |
4: 108,031,006 (GRCm39) |
M162V |
probably benign |
Het |
Entpd8 |
A |
G |
2: 24,974,986 (GRCm39) |
D439G |
possibly damaging |
Het |
Fbrs |
A |
G |
7: 127,084,529 (GRCm39) |
E517G |
probably damaging |
Het |
Gchfr |
A |
G |
2: 119,002,502 (GRCm39) |
T71A |
possibly damaging |
Het |
Hecw1 |
A |
T |
13: 14,552,492 (GRCm39) |
C35S |
probably damaging |
Het |
Izumo1r |
C |
T |
9: 14,813,098 (GRCm39) |
R58H |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,906,332 (GRCm39) |
E537G |
possibly damaging |
Het |
Kif13b |
G |
A |
14: 65,019,790 (GRCm39) |
|
probably null |
Het |
Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
Lnpk |
A |
T |
2: 74,378,340 (GRCm39) |
D140E |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,559,362 (GRCm39) |
M284V |
probably benign |
Het |
Me3 |
A |
T |
7: 89,495,050 (GRCm39) |
T323S |
possibly damaging |
Het |
Mtus1 |
A |
G |
8: 41,535,895 (GRCm39) |
V607A |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,305,118 (GRCm39) |
|
probably null |
Het |
Myo1h |
T |
A |
5: 114,485,496 (GRCm39) |
C545* |
probably null |
Het |
Nbn |
T |
A |
4: 15,964,289 (GRCm39) |
D121E |
probably damaging |
Het |
Nox4 |
A |
G |
7: 87,019,231 (GRCm39) |
Y408C |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Or10q1b |
A |
G |
19: 13,682,566 (GRCm39) |
D125G |
probably damaging |
Het |
Or52d3 |
T |
A |
7: 104,229,268 (GRCm39) |
Y138* |
probably null |
Het |
Or5w20 |
G |
A |
2: 87,727,286 (GRCm39) |
A248T |
probably benign |
Het |
Osbpl5 |
T |
C |
7: 143,262,939 (GRCm39) |
T150A |
possibly damaging |
Het |
Pgap3 |
C |
A |
11: 98,280,879 (GRCm39) |
M265I |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Pkd2l2 |
A |
T |
18: 34,560,446 (GRCm39) |
N351I |
possibly damaging |
Het |
Prkdc |
T |
A |
16: 15,493,192 (GRCm39) |
Y700N |
probably benign |
Het |
Pzp |
A |
G |
6: 128,500,931 (GRCm39) |
|
probably null |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rptor |
A |
T |
11: 119,786,827 (GRCm39) |
Q1264L |
probably benign |
Het |
Scnn1a |
T |
C |
6: 125,299,103 (GRCm39) |
F61S |
probably damaging |
Het |
Tenm2 |
C |
A |
11: 35,997,610 (GRCm39) |
W825C |
probably damaging |
Het |
Tex264 |
A |
T |
9: 106,559,116 (GRCm39) |
I70N |
possibly damaging |
Het |
Tns2 |
G |
T |
15: 102,019,645 (GRCm39) |
D504Y |
probably damaging |
Het |
Trappc14 |
T |
C |
5: 138,260,128 (GRCm39) |
I338V |
probably benign |
Het |
Trpc2 |
T |
A |
7: 101,733,447 (GRCm39) |
F132Y |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,958,021 (GRCm39) |
F816S |
probably damaging |
Het |
Uqcc1 |
G |
A |
2: 155,763,641 (GRCm39) |
Q5* |
probably null |
Het |
Usp36 |
G |
T |
11: 118,175,771 (GRCm39) |
T130N |
probably damaging |
Het |
Vav1 |
A |
G |
17: 57,604,252 (GRCm39) |
M165V |
probably benign |
Het |
Vmn1r64 |
A |
T |
7: 5,886,803 (GRCm39) |
F247I |
probably damaging |
Het |
Vmn2r26 |
G |
C |
6: 124,016,706 (GRCm39) |
R390P |
probably benign |
Het |
Vmn2r57 |
G |
T |
7: 41,049,548 (GRCm39) |
H734N |
probably benign |
Het |
Wfdc16 |
G |
T |
2: 164,477,843 (GRCm39) |
H69N |
possibly damaging |
Het |
Zfp316 |
C |
T |
5: 143,239,317 (GRCm39) |
E901K |
probably damaging |
Het |
Zfp334 |
T |
C |
2: 165,223,719 (GRCm39) |
E108G |
probably damaging |
Het |
Zfp407 |
T |
C |
18: 84,227,763 (GRCm39) |
S1949G |
probably benign |
Het |
Zfp408 |
A |
G |
2: 91,476,473 (GRCm39) |
L227P |
probably benign |
Het |
Zfp560 |
T |
C |
9: 20,259,287 (GRCm39) |
H525R |
possibly damaging |
Het |
Zfp609 |
G |
A |
9: 65,611,754 (GRCm39) |
A403V |
possibly damaging |
Het |
|
Other mutations in Fastkd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01067:Fastkd2
|
APN |
1 |
63,776,930 (GRCm39) |
splice site |
probably benign |
|
IGL01890:Fastkd2
|
APN |
1 |
63,771,320 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02698:Fastkd2
|
APN |
1 |
63,787,158 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02992:Fastkd2
|
APN |
1 |
63,777,083 (GRCm39) |
splice site |
probably benign |
|
IGL03208:Fastkd2
|
APN |
1 |
63,778,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R0172:Fastkd2
|
UTSW |
1 |
63,771,187 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0304:Fastkd2
|
UTSW |
1 |
63,791,559 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0385:Fastkd2
|
UTSW |
1 |
63,776,970 (GRCm39) |
missense |
probably benign |
0.01 |
R0486:Fastkd2
|
UTSW |
1 |
63,791,499 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1115:Fastkd2
|
UTSW |
1 |
63,787,114 (GRCm39) |
splice site |
probably benign |
|
R1468:Fastkd2
|
UTSW |
1 |
63,771,385 (GRCm39) |
unclassified |
probably benign |
|
R1729:Fastkd2
|
UTSW |
1 |
63,790,459 (GRCm39) |
nonsense |
probably null |
|
R3937:Fastkd2
|
UTSW |
1 |
63,776,995 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4326:Fastkd2
|
UTSW |
1 |
63,791,516 (GRCm39) |
missense |
probably benign |
0.07 |
R4327:Fastkd2
|
UTSW |
1 |
63,791,516 (GRCm39) |
missense |
probably benign |
0.07 |
R4463:Fastkd2
|
UTSW |
1 |
63,774,968 (GRCm39) |
intron |
probably benign |
|
R4473:Fastkd2
|
UTSW |
1 |
63,770,833 (GRCm39) |
missense |
probably damaging |
0.97 |
R4760:Fastkd2
|
UTSW |
1 |
63,785,045 (GRCm39) |
missense |
probably benign |
0.00 |
R5012:Fastkd2
|
UTSW |
1 |
63,789,055 (GRCm39) |
intron |
probably benign |
|
R5176:Fastkd2
|
UTSW |
1 |
63,770,598 (GRCm39) |
unclassified |
probably benign |
|
R5478:Fastkd2
|
UTSW |
1 |
63,778,345 (GRCm39) |
missense |
probably benign |
0.13 |
R5619:Fastkd2
|
UTSW |
1 |
63,778,469 (GRCm39) |
missense |
probably benign |
0.25 |
R6893:Fastkd2
|
UTSW |
1 |
63,770,953 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7038:Fastkd2
|
UTSW |
1 |
63,771,032 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7049:Fastkd2
|
UTSW |
1 |
63,771,009 (GRCm39) |
missense |
probably benign |
0.04 |
R7510:Fastkd2
|
UTSW |
1 |
63,776,948 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7810:Fastkd2
|
UTSW |
1 |
63,770,851 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7889:Fastkd2
|
UTSW |
1 |
63,774,619 (GRCm39) |
splice site |
probably null |
|
R8263:Fastkd2
|
UTSW |
1 |
63,770,968 (GRCm39) |
missense |
probably benign |
0.03 |
R8271:Fastkd2
|
UTSW |
1 |
63,787,183 (GRCm39) |
missense |
probably benign |
0.26 |
R8321:Fastkd2
|
UTSW |
1 |
63,787,138 (GRCm39) |
missense |
probably benign |
0.00 |
R8468:Fastkd2
|
UTSW |
1 |
63,770,923 (GRCm39) |
missense |
probably benign |
0.06 |
R8767:Fastkd2
|
UTSW |
1 |
63,775,080 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Fastkd2
|
UTSW |
1 |
63,773,996 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Fastkd2
|
UTSW |
1 |
63,773,995 (GRCm39) |
critical splice donor site |
probably null |
|
|
Genotyping |
NOTE: These primers have not been validated. R1579:Fastkd2 genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transition.
PCR Primers
R15790001_Fastkd2_PCR_F: 5’- CACAACAGTAGCTGTGACTGGTAGG-3’
R15790001_Fastkd2_PCR_R: 5’- GAACCCACTCAAGTGACAAGGTGAC-3’ Sequencing Primers
R15790001_Fastkd2_SEQ_F: 5’- ctaaaaccatctctatttcctgcc-3’
R15790001_Fastkd2_SEQ_R: 5’- TCAAGTGACAAGGTGACTACCTAC-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 741 nucleotides is amplified (Chr.16: 36772211-36772629, GRCm38; NCBI RefSeq: NC_000067): cacaacagta gctgtgactg gtagggttag gctcgtaagt cattaccaag aattttgata
gctaggaatg tttaattgct tataaaactg cagtgccagt ctaggccttg tagaaactgt
gacgagtaaa aggctctggt gcctgaccac ttaggttcta aaaccatctc tatttcctgc
ccatccactg taattagttc atggatgagt tattcaactt ctgagcctgt tcactcatct
ttatttatga gaataataat actgctaccc catagagttt taataggagt gaaatgactg
aaagccagcc tataaaacat ttttatgcag tatatctgca ggagtcattt attggatatg
tacacttact atgggggtct agccacatct tgcactaggt atgggtactt atttgcaaat
ctgattgttt catctcattt ctttgaattc cttgaagatc ttgggtctgt agcatggagt
cagctcttct gtgaccttgt cttataggtt gatttgaaat ctgactttcc tttgttcccc
acaaggttcc tagaagctct ggcgagtgct ctgactggct gtcttcacca catttcttct
gaaagcctgt tgaatgctgt gcattcgttt tgcatgatga attatttccc tctggcccct
attaaccagc ttatcaaaga gaatatcatc aacgaactgc tgacttcggg taggtagtca
ccttgtcact tgagtgggtt c FASTA sequence Primer binding sites are underlined and the sequencing primer is highlighted; the mutated C is shown in red text (Chr. + strand, C>G).
|