Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,370,425 (GRCm39) |
T317A |
probably benign |
Het |
Adck1 |
G |
A |
12: 88,407,865 (GRCm39) |
A199T |
probably benign |
Het |
Adgrb1 |
A |
T |
15: 74,444,011 (GRCm39) |
M1038L |
probably benign |
Het |
Anapc10 |
C |
T |
8: 80,455,779 (GRCm39) |
T76I |
probably benign |
Het |
Atosa |
T |
C |
9: 74,913,649 (GRCm39) |
L94P |
probably damaging |
Het |
Bptf |
C |
T |
11: 106,965,474 (GRCm39) |
S1177N |
probably benign |
Het |
Bsn |
A |
T |
9: 107,984,726 (GRCm39) |
Y337* |
probably null |
Het |
Ccl20 |
T |
A |
1: 83,095,580 (GRCm39) |
V48E |
possibly damaging |
Het |
Ccnl1 |
C |
T |
3: 65,864,320 (GRCm39) |
D122N |
probably damaging |
Het |
Chat |
C |
G |
14: 32,176,567 (GRCm39) |
G69A |
probably damaging |
Het |
Cr2 |
T |
A |
1: 194,841,039 (GRCm39) |
I418F |
possibly damaging |
Het |
Dmxl1 |
G |
C |
18: 50,011,862 (GRCm39) |
A1340P |
probably damaging |
Het |
Eef2k |
G |
A |
7: 120,491,155 (GRCm39) |
R547Q |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,937,935 (GRCm39) |
S793N |
probably benign |
Het |
Enox1 |
T |
A |
14: 77,958,290 (GRCm39) |
L632Q |
probably damaging |
Het |
Fabp9 |
T |
C |
3: 10,259,738 (GRCm39) |
K92E |
probably damaging |
Het |
Fam234a |
T |
C |
17: 26,432,559 (GRCm39) |
H530R |
probably benign |
Het |
Fancm |
C |
T |
12: 65,149,417 (GRCm39) |
Q728* |
probably null |
Het |
Fgd3 |
G |
A |
13: 49,417,465 (GRCm39) |
T666M |
possibly damaging |
Het |
Foxs1 |
T |
C |
2: 152,774,301 (GRCm39) |
M251V |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,818,438 (GRCm39) |
M4724L |
probably benign |
Het |
Gemin6 |
G |
A |
17: 80,535,327 (GRCm39) |
E96K |
probably damaging |
Het |
Gfi1 |
C |
A |
5: 107,871,152 (GRCm39) |
V80F |
probably damaging |
Het |
H3c13 |
G |
T |
3: 96,176,277 (GRCm39) |
V90F |
possibly damaging |
Het |
Hectd1 |
A |
G |
12: 51,847,505 (GRCm39) |
V442A |
probably damaging |
Het |
Ift80 |
A |
G |
3: 68,857,829 (GRCm39) |
I272T |
probably damaging |
Het |
Insl6 |
C |
T |
19: 29,302,556 (GRCm39) |
E54K |
probably benign |
Het |
Irak3 |
T |
A |
10: 120,018,586 (GRCm39) |
D54V |
probably damaging |
Het |
Itk |
C |
T |
11: 46,227,171 (GRCm39) |
|
probably null |
Het |
Ivl |
A |
T |
3: 92,479,718 (GRCm39) |
C116S |
probably benign |
Het |
Kcnq4 |
G |
A |
4: 120,570,260 (GRCm39) |
A361V |
probably benign |
Het |
L1td1 |
C |
T |
4: 98,625,548 (GRCm39) |
P581L |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,358,905 (GRCm39) |
E656G |
probably benign |
Het |
Macrod2 |
A |
G |
2: 140,261,985 (GRCm39) |
T89A |
possibly damaging |
Het |
Mettl13 |
T |
C |
1: 162,364,837 (GRCm39) |
D514G |
probably damaging |
Het |
Mfsd13b |
A |
T |
7: 120,590,711 (GRCm39) |
I151F |
possibly damaging |
Het |
Mical3 |
G |
A |
6: 120,912,214 (GRCm39) |
P1882S |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,383,382 (GRCm39) |
E394G |
possibly damaging |
Het |
Myo16 |
T |
A |
8: 10,488,892 (GRCm39) |
S688T |
probably damaging |
Het |
Neb |
T |
C |
2: 52,176,058 (GRCm39) |
Y1467C |
probably damaging |
Het |
Nhsl3 |
C |
T |
4: 129,118,238 (GRCm39) |
R214Q |
probably damaging |
Het |
Nkx6-3 |
C |
A |
8: 23,643,914 (GRCm39) |
P105Q |
possibly damaging |
Het |
Nlrp1b |
T |
C |
11: 71,108,710 (GRCm39) |
T264A |
possibly damaging |
Het |
Nnat |
G |
A |
2: 157,403,678 (GRCm39) |
C122Y |
probably damaging |
Het |
Notch3 |
G |
A |
17: 32,360,351 (GRCm39) |
R1527C |
probably damaging |
Het |
Or2y16 |
C |
T |
11: 49,335,449 (GRCm39) |
T257I |
probably damaging |
Het |
Or5an1c |
T |
G |
19: 12,218,082 (GRCm39) |
|
probably null |
Het |
Or5h18 |
A |
G |
16: 58,847,518 (GRCm39) |
Y251H |
probably damaging |
Het |
Pds5b |
C |
T |
5: 150,639,927 (GRCm39) |
T14I |
probably benign |
Het |
Phf19 |
A |
T |
2: 34,789,718 (GRCm39) |
I334N |
probably damaging |
Het |
Pik3ap1 |
T |
C |
19: 41,364,365 (GRCm39) |
D118G |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,140,712 (GRCm39) |
E3886V |
possibly damaging |
Het |
Pkp1 |
A |
G |
1: 135,846,690 (GRCm39) |
S21P |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,546,219 (GRCm39) |
L374F |
possibly damaging |
Het |
Rack1 |
C |
A |
11: 48,696,463 (GRCm39) |
A290E |
probably damaging |
Het |
Rbm15 |
A |
G |
3: 107,239,570 (GRCm39) |
V276A |
probably benign |
Het |
Rnf216 |
A |
T |
5: 143,076,335 (GRCm39) |
L183* |
probably null |
Het |
Sc5d |
T |
C |
9: 42,166,922 (GRCm39) |
I206V |
probably benign |
Het |
Scpep1 |
A |
G |
11: 88,826,737 (GRCm39) |
I233T |
probably benign |
Het |
Sh3pxd2a |
A |
G |
19: 47,257,132 (GRCm39) |
Y529H |
probably damaging |
Het |
Slc1a4 |
A |
C |
11: 20,254,384 (GRCm39) |
V494G |
probably damaging |
Het |
Slc38a7 |
T |
C |
8: 96,575,230 (GRCm39) |
T17A |
probably benign |
Het |
Smg6 |
T |
C |
11: 74,932,744 (GRCm39) |
S73P |
probably damaging |
Het |
Stk32b |
T |
C |
5: 37,624,141 (GRCm39) |
Y202C |
probably damaging |
Het |
Tas2r140 |
A |
G |
6: 40,468,334 (GRCm39) |
S55G |
probably damaging |
Het |
Tcf12 |
C |
T |
9: 71,766,122 (GRCm39) |
G504S |
probably null |
Het |
Ttc3 |
G |
C |
16: 94,227,690 (GRCm39) |
|
probably null |
Het |
Ttc3 |
T |
C |
16: 94,220,324 (GRCm39) |
I568T |
probably damaging |
Het |
Ttc41 |
T |
G |
10: 86,594,966 (GRCm39) |
N913K |
possibly damaging |
Het |
Vrk1 |
G |
A |
12: 106,024,231 (GRCm39) |
V236M |
probably damaging |
Het |
Wscd1 |
C |
T |
11: 71,650,972 (GRCm39) |
R100C |
probably damaging |
Het |
Zc3h18 |
C |
T |
8: 123,128,445 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Impact |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01531:Impact
|
APN |
18 |
13,109,076 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01960:Impact
|
APN |
18 |
13,107,815 (GRCm39) |
missense |
probably benign |
0.13 |
R1056:Impact
|
UTSW |
18 |
13,109,581 (GRCm39) |
missense |
probably benign |
0.14 |
R1552:Impact
|
UTSW |
18 |
13,117,337 (GRCm39) |
missense |
probably benign |
0.25 |
R4111:Impact
|
UTSW |
18 |
13,109,090 (GRCm39) |
critical splice donor site |
probably null |
|
R4734:Impact
|
UTSW |
18 |
13,118,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Impact
|
UTSW |
18 |
13,107,819 (GRCm39) |
missense |
probably damaging |
0.98 |
R5601:Impact
|
UTSW |
18 |
13,109,064 (GRCm39) |
missense |
probably benign |
0.44 |
R5966:Impact
|
UTSW |
18 |
13,123,601 (GRCm39) |
missense |
probably benign |
0.00 |
R6974:Impact
|
UTSW |
18 |
13,115,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R7168:Impact
|
UTSW |
18 |
13,119,370 (GRCm39) |
splice site |
probably null |
|
R8108:Impact
|
UTSW |
18 |
13,117,388 (GRCm39) |
missense |
probably benign |
0.00 |
R8460:Impact
|
UTSW |
18 |
13,109,564 (GRCm39) |
missense |
probably benign |
0.00 |
R8474:Impact
|
UTSW |
18 |
13,107,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R8897:Impact
|
UTSW |
18 |
13,123,551 (GRCm39) |
missense |
probably benign |
0.10 |
Z1177:Impact
|
UTSW |
18 |
13,121,423 (GRCm39) |
missense |
probably damaging |
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
R48850073_PCR_F: 5’- AAGGTTTGCCCTACTACGGC-3’
R48850073_PCR_R: 5’- CGTATCTAGTAGAGAACGCAGTGC-3’ Sequencing Primers
R48850073_SEQ_F: 5’- GCCCTACTACGGCACTTCAGAG-3’
R48850073_SEQ_R: 5’- AACGCAGTGCTCCTCCG-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 400 nucleotides is amplified (NCBI RefSeq: NC_000084, chromosome 18. Chr13:12986167-12986566): 1 aaggtttgcc ctactacggc acttcagagc ttaataaatt cactaagtaa ctgttctgct
61 ataaatttat atcaaattgc tttaattcta cctttctagc atttacagag aaaataaaag
121 gcatatttgt ttatttctat tactgctgtt tttgaaggtg aaactggttc ttgccaagct
181 gtacgagaat aagaagattg ccagcgccac ccacaacatc tatgcctaca ggtgagtgac
241 tgccaggttt tacaataggc aatttacaaa cagttgctgg gaagctatgc aggattttga
301 gatatagctg cttttttatt acaacagtag acctgtgaag tatttgaaaa ctgcagagag
361 tcaagtagcc ggaggagcac tgcgttctct actagatacg Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text.
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