Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
T |
8: 41,207,922 (GRCm39) |
Y396F |
probably benign |
Het |
Adra2a |
T |
A |
19: 54,034,837 (GRCm39) |
F64L |
probably damaging |
Het |
Ankrd45 |
A |
T |
1: 160,978,870 (GRCm39) |
N103I |
probably damaging |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Bsn |
A |
G |
9: 107,993,643 (GRCm39) |
V703A |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,950,357 (GRCm39) |
I529K |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,396,287 (GRCm39) |
N726S |
probably damaging |
Het |
Ccdc78 |
T |
A |
17: 26,006,044 (GRCm39) |
S71T |
probably damaging |
Het |
Cct5 |
G |
T |
15: 31,591,154 (GRCm39) |
Q516K |
probably benign |
Het |
Cd300c2 |
A |
T |
11: 114,891,685 (GRCm39) |
V63E |
probably benign |
Het |
Cdh16 |
A |
G |
8: 105,344,595 (GRCm39) |
V7A |
possibly damaging |
Het |
Clec16a |
T |
C |
16: 10,506,403 (GRCm39) |
F710L |
probably damaging |
Het |
Clpb |
T |
G |
7: 101,428,418 (GRCm39) |
F393V |
probably damaging |
Het |
Commd9 |
G |
A |
2: 101,731,376 (GRCm39) |
R187H |
probably damaging |
Het |
Crx |
T |
A |
7: 15,602,301 (GRCm39) |
K126* |
probably null |
Het |
Dcaf13 |
T |
A |
15: 39,001,483 (GRCm39) |
Y264N |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,455,650 (GRCm39) |
I791N |
probably damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,345,683 (GRCm39) |
D456E |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,394,414 (GRCm39) |
S1963P |
probably benign |
Het |
Efl1 |
C |
T |
7: 82,412,325 (GRCm39) |
Q905* |
probably null |
Het |
Farsa |
T |
C |
8: 85,587,780 (GRCm39) |
F104L |
probably benign |
Het |
Fbxl19 |
C |
A |
7: 127,350,101 (GRCm39) |
A231E |
probably benign |
Het |
Fbxw19 |
A |
T |
9: 109,310,718 (GRCm39) |
N401K |
probably benign |
Het |
Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
Frem3 |
A |
G |
8: 81,339,519 (GRCm39) |
N604S |
probably benign |
Het |
Gad1 |
T |
G |
2: 70,417,736 (GRCm39) |
C312G |
possibly damaging |
Het |
Garem2 |
G |
T |
5: 30,319,860 (GRCm39) |
E441* |
probably null |
Het |
Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
Gm8206 |
A |
T |
14: 6,022,475 (GRCm38) |
M8K |
probably benign |
Het |
Gpr162 |
G |
A |
6: 124,838,410 (GRCm39) |
S80F |
probably damaging |
Het |
Grpr |
C |
A |
X: 162,332,137 (GRCm39) |
V53L |
probably benign |
Het |
Il21 |
C |
T |
3: 37,286,635 (GRCm39) |
R27H |
probably benign |
Het |
Il21r |
C |
T |
7: 125,228,153 (GRCm39) |
T208I |
possibly damaging |
Het |
Kcnab2 |
T |
C |
4: 152,520,323 (GRCm39) |
T6A |
possibly damaging |
Het |
Klra4 |
T |
A |
6: 130,042,207 (GRCm39) |
Q20L |
possibly damaging |
Het |
Lrrtm1 |
A |
T |
6: 77,221,949 (GRCm39) |
|
probably null |
Het |
Lrrtm3 |
A |
G |
10: 63,924,292 (GRCm39) |
F292L |
possibly damaging |
Het |
Mpeg1 |
A |
T |
19: 12,440,011 (GRCm39) |
K490* |
probably null |
Het |
Myh14 |
C |
T |
7: 44,264,772 (GRCm39) |
M1671I |
probably benign |
Het |
Nebl |
A |
T |
2: 17,380,103 (GRCm39) |
M757K |
probably damaging |
Het |
Or51m1 |
G |
T |
7: 103,578,337 (GRCm39) |
M102I |
probably damaging |
Het |
Or56b1b |
A |
C |
7: 108,164,730 (GRCm39) |
F91V |
possibly damaging |
Het |
Or5aq1 |
T |
A |
2: 86,966,188 (GRCm39) |
H159L |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,404,280 (GRCm39) |
H2303L |
possibly damaging |
Het |
Podxl2 |
C |
T |
6: 88,826,587 (GRCm39) |
V240M |
probably benign |
Het |
Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
Prss53 |
T |
C |
7: 127,485,434 (GRCm39) |
*553W |
probably null |
Het |
Psma3 |
T |
A |
12: 71,031,468 (GRCm39) |
M43K |
probably benign |
Het |
Rad50 |
G |
T |
11: 53,570,888 (GRCm39) |
T790K |
probably benign |
Het |
Rasgrf1 |
G |
T |
9: 89,835,966 (GRCm39) |
Q231H |
probably damaging |
Het |
Scn10a |
T |
A |
9: 119,439,064 (GRCm39) |
M1601L |
probably damaging |
Het |
Sema4f |
G |
T |
6: 82,907,908 (GRCm39) |
P180Q |
probably damaging |
Het |
Serpinb5 |
A |
G |
1: 106,803,851 (GRCm39) |
E8G |
probably damaging |
Het |
Sgcg |
C |
T |
14: 61,469,861 (GRCm39) |
V167I |
possibly damaging |
Het |
Slc25a13 |
C |
T |
6: 6,109,262 (GRCm39) |
V367M |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,068,424 (GRCm39) |
S191P |
probably benign |
Het |
Srbd1 |
A |
G |
17: 86,410,321 (GRCm39) |
V537A |
probably damaging |
Het |
Srgap1 |
G |
T |
10: 121,761,808 (GRCm39) |
D113E |
possibly damaging |
Het |
Srl |
A |
G |
16: 4,310,214 (GRCm39) |
I505T |
probably damaging |
Het |
St14 |
G |
A |
9: 31,017,508 (GRCm39) |
T226I |
probably benign |
Het |
Stard9 |
T |
A |
2: 120,529,137 (GRCm39) |
I1798N |
possibly damaging |
Het |
Sugp1 |
A |
G |
8: 70,509,225 (GRCm39) |
E166G |
possibly damaging |
Het |
Susd1 |
A |
T |
4: 59,351,695 (GRCm39) |
N455K |
possibly damaging |
Het |
Sytl3 |
T |
A |
17: 7,000,445 (GRCm39) |
V205E |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,544,533 (GRCm39) |
Y2183C |
probably damaging |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tlcd3b |
T |
A |
7: 126,426,844 (GRCm39) |
|
probably null |
Het |
Tlr1 |
T |
G |
5: 65,082,781 (GRCm39) |
T599P |
possibly damaging |
Het |
Trpc6 |
G |
A |
9: 8,656,546 (GRCm39) |
D658N |
probably damaging |
Het |
Ttc39b |
A |
G |
4: 83,150,957 (GRCm39) |
V546A |
possibly damaging |
Het |
Ube3c |
T |
C |
5: 29,824,657 (GRCm39) |
Y561H |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,284,405 (GRCm39) |
S42T |
probably benign |
Het |
Vps4a |
T |
C |
8: 107,771,190 (GRCm39) |
V392A |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,855,301 (GRCm39) |
E771G |
probably benign |
Het |
Whrn |
G |
A |
4: 63,333,876 (GRCm39) |
Q415* |
probably null |
Het |
Wnt5a |
C |
T |
14: 28,233,802 (GRCm39) |
P10L |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,312,695 (GRCm39) |
|
probably benign |
Het |
Zfp451 |
T |
C |
1: 33,816,903 (GRCm39) |
K132R |
probably damaging |
Het |
|
Other mutations in Rpn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00594:Rpn1
|
APN |
6 |
88,072,611 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02614:Rpn1
|
APN |
6 |
88,079,087 (GRCm39) |
missense |
probably benign |
0.03 |
R0101:Rpn1
|
UTSW |
6 |
88,070,769 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0101:Rpn1
|
UTSW |
6 |
88,070,769 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0505:Rpn1
|
UTSW |
6 |
88,067,224 (GRCm39) |
missense |
probably benign |
0.01 |
R1655:Rpn1
|
UTSW |
6 |
88,077,926 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1934:Rpn1
|
UTSW |
6 |
88,070,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Rpn1
|
UTSW |
6 |
88,072,530 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2020:Rpn1
|
UTSW |
6 |
88,072,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R2074:Rpn1
|
UTSW |
6 |
88,077,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R3237:Rpn1
|
UTSW |
6 |
88,080,396 (GRCm39) |
missense |
probably benign |
0.00 |
R3722:Rpn1
|
UTSW |
6 |
88,067,282 (GRCm39) |
splice site |
probably null |
|
R4837:Rpn1
|
UTSW |
6 |
88,067,187 (GRCm39) |
missense |
probably benign |
0.10 |
R5546:Rpn1
|
UTSW |
6 |
88,070,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R6989:Rpn1
|
UTSW |
6 |
88,076,285 (GRCm39) |
missense |
probably benign |
0.02 |
R7292:Rpn1
|
UTSW |
6 |
88,067,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Rpn1
|
UTSW |
6 |
88,061,619 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7623:Rpn1
|
UTSW |
6 |
88,061,550 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7816:Rpn1
|
UTSW |
6 |
88,080,378 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7960:Rpn1
|
UTSW |
6 |
88,079,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R8553:Rpn1
|
UTSW |
6 |
88,072,539 (GRCm39) |
missense |
probably damaging |
0.98 |
R8696:Rpn1
|
UTSW |
6 |
88,080,359 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8831:Rpn1
|
UTSW |
6 |
88,061,775 (GRCm39) |
missense |
probably benign |
0.01 |
R9572:Rpn1
|
UTSW |
6 |
88,078,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Genotyping |
NOTE: These primers have not been validated. Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transversion.
PCR Primers
R19330031_PCR_F: 5’- CTGATGCTTGGTGACCATTG-3’
R19330031_PCR_R: 5’- GACCCTTCTAGCAGTGATATTCAAC-3’ Sequencing Primers
R19330031_SEQ_F: 5’- ATGCTTGGTGACCATTGTGTGATG-3’
R19330031_SEQ_R: 5’- GGACACACGGATAGTCACAGTTC-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 439 nucleotides is amplified (NCBI RefSeq: NC_000072, chromosome 6): ctgatgcttg gtgaccattg tgtgatggtt cacaggctct cgctagtttc ttttaagcta
gtgtgggctt ctctgttgct aaagctatgg actgcttgtt tccttcccat ctaggacact
ttcaaagtac attacgagaa caatagccct ttcctgacca tcaccagtat gacccgggtc
atcgaggtat ctcactgggg caatattgct gtggaagaga acgtggactt gaagcacacg
ggcgcagtgc tgaaggggcc tttctcccgc tacgattacc agaggcagcc tgacagtggg
atctcctcca ttcgttcttt taaggtatga gtggccacct tgttcactgt gggaactgtg
actatccgtg tgtcctttct ttcacttttt agtttggggg gattaactaa cgatgttgaa
tatcactgct agaagggtc Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. + strand, T>A).
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