Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519G04Rik |
T |
C |
5: 115,017,617 (GRCm39) |
S143P |
possibly damaging |
Het |
4933427D14Rik |
T |
C |
11: 72,066,365 (GRCm39) |
K614E |
probably damaging |
Het |
Aatk |
A |
G |
11: 119,906,948 (GRCm39) |
M155T |
possibly damaging |
Het |
Acvr2b |
T |
C |
9: 119,260,328 (GRCm39) |
L333P |
probably damaging |
Het |
Adam22 |
T |
C |
5: 8,128,699 (GRCm39) |
E865G |
probably damaging |
Het |
Add2 |
A |
G |
6: 86,087,870 (GRCm39) |
S358G |
probably damaging |
Het |
Agap2 |
T |
C |
10: 126,926,072 (GRCm39) |
|
probably null |
Het |
Alkbh8 |
G |
A |
9: 3,344,604 (GRCm39) |
W49* |
probably null |
Het |
AU015228 |
A |
T |
2: 129,942,549 (GRCm39) |
|
noncoding transcript |
Het |
Bank1 |
G |
T |
3: 135,953,450 (GRCm39) |
R102S |
probably benign |
Het |
Brap |
T |
A |
5: 121,800,193 (GRCm39) |
D27E |
probably damaging |
Het |
Cyb5r2 |
G |
T |
7: 107,349,484 (GRCm39) |
H276N |
possibly damaging |
Het |
Dhh |
A |
G |
15: 98,792,139 (GRCm39) |
F290L |
possibly damaging |
Het |
Dhrs7 |
T |
A |
12: 72,699,025 (GRCm39) |
N319I |
possibly damaging |
Het |
Ebpl |
A |
G |
14: 61,597,682 (GRCm39) |
V53A |
probably damaging |
Het |
Eif3j2 |
TGCCGCCGCCGCCGCCGCCGCCGCCGCC |
TGCCGCCGCCGCCGCCGCCGCCGCC |
18: 43,610,782 (GRCm39) |
|
probably benign |
Het |
Etnk1 |
A |
C |
6: 143,132,319 (GRCm39) |
N220T |
probably damaging |
Het |
F11r |
T |
A |
1: 171,288,166 (GRCm39) |
V64D |
probably benign |
Het |
Fam171a1 |
T |
C |
2: 3,225,946 (GRCm39) |
S360P |
probably damaging |
Het |
Fignl1 |
A |
G |
11: 11,751,585 (GRCm39) |
M490T |
probably damaging |
Het |
Fpr-rs7 |
A |
T |
17: 20,334,265 (GRCm39) |
M75K |
probably benign |
Het |
Fzd7 |
T |
A |
1: 59,523,595 (GRCm39) |
F493I |
possibly damaging |
Het |
Galnt14 |
G |
T |
17: 73,814,828 (GRCm39) |
P412T |
probably damaging |
Het |
Gcg |
T |
A |
2: 62,308,975 (GRCm39) |
S60C |
probably damaging |
Het |
Ggt1 |
A |
G |
10: 75,421,733 (GRCm39) |
K527E |
probably benign |
Het |
Gm16551 |
T |
A |
9: 74,758,153 (GRCm39) |
|
noncoding transcript |
Het |
Gm9972 |
A |
G |
11: 42,927,517 (GRCm39) |
K55E |
unknown |
Het |
Gpr141 |
T |
A |
13: 19,935,884 (GRCm39) |
D297V |
probably benign |
Het |
Grin2b |
G |
A |
6: 135,755,697 (GRCm39) |
S539L |
probably damaging |
Het |
Hhipl1 |
A |
T |
12: 108,286,238 (GRCm39) |
N515I |
possibly damaging |
Het |
Hmcn1 |
T |
G |
1: 150,453,363 (GRCm39) |
E5317D |
probably damaging |
Het |
Hsf5 |
T |
A |
11: 87,513,617 (GRCm39) |
N227K |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,910,196 (GRCm39) |
D129E |
probably benign |
Het |
Invs |
T |
C |
4: 48,397,609 (GRCm39) |
F339L |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,239,656 (GRCm39) |
S17T |
probably benign |
Het |
Mdga2 |
T |
A |
12: 66,844,501 (GRCm39) |
I166F |
probably benign |
Het |
Nck1 |
T |
C |
9: 100,388,797 (GRCm39) |
I6V |
probably benign |
Het |
Neb |
T |
C |
2: 52,040,589 (GRCm39) |
D6624G |
probably benign |
Het |
Nmur2 |
A |
G |
11: 55,931,661 (GRCm39) |
Y17H |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,964,310 (GRCm39) |
L1298P |
probably damaging |
Het |
Ocel1 |
A |
G |
8: 71,825,397 (GRCm39) |
E161G |
probably damaging |
Het |
Or1j16 |
A |
T |
2: 36,530,991 (GRCm39) |
|
probably null |
Het |
Pabpc2 |
A |
G |
18: 39,907,881 (GRCm39) |
Y382C |
probably benign |
Het |
Panx1 |
A |
G |
9: 14,921,594 (GRCm39) |
|
probably benign |
Het |
Pdhx |
A |
T |
2: 102,872,641 (GRCm39) |
V147D |
probably benign |
Het |
Pigz |
A |
T |
16: 31,764,151 (GRCm39) |
H403L |
probably damaging |
Het |
Pilra |
T |
C |
5: 137,833,769 (GRCm39) |
|
probably null |
Het |
Rbm47 |
T |
C |
5: 66,184,036 (GRCm39) |
D189G |
probably damaging |
Het |
Scarf2 |
G |
A |
16: 17,621,380 (GRCm39) |
R322H |
probably damaging |
Het |
Septin3 |
T |
C |
15: 82,174,658 (GRCm39) |
|
probably null |
Het |
Sirt2 |
T |
C |
7: 28,476,438 (GRCm39) |
F26L |
probably damaging |
Het |
Slc1a1 |
A |
T |
19: 28,871,925 (GRCm39) |
T133S |
probably benign |
Het |
Slc1a2 |
A |
G |
2: 102,568,214 (GRCm39) |
I84V |
probably benign |
Het |
Slc28a2b |
A |
T |
2: 122,353,286 (GRCm39) |
K489* |
probably null |
Het |
Slc6a9 |
A |
T |
4: 117,725,092 (GRCm39) |
Q562L |
probably benign |
Het |
Snx29 |
C |
T |
16: 11,167,773 (GRCm39) |
Q25* |
probably null |
Het |
St6galnac6 |
A |
G |
2: 32,508,555 (GRCm39) |
I231V |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,526,604 (GRCm39) |
T954A |
probably benign |
Het |
Sufu |
A |
G |
19: 46,472,069 (GRCm39) |
M443V |
possibly damaging |
Het |
Sv2b |
T |
C |
7: 74,856,266 (GRCm39) |
D8G |
probably benign |
Het |
Tapbpl |
G |
A |
6: 125,205,248 (GRCm39) |
R233W |
probably damaging |
Het |
Tex10 |
A |
G |
4: 48,469,990 (GRCm39) |
L25S |
probably benign |
Het |
Trp53bp1 |
A |
T |
2: 121,041,794 (GRCm39) |
V1254D |
probably damaging |
Het |
Ugt3a1 |
T |
A |
15: 9,310,639 (GRCm39) |
I307N |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,839,126 (GRCm39) |
D575G |
probably damaging |
Het |
Usf2 |
A |
T |
7: 30,654,197 (GRCm39) |
D166E |
probably damaging |
Het |
Usp25 |
T |
A |
16: 76,911,877 (GRCm39) |
L969M |
probably damaging |
Het |
Usp32 |
G |
A |
11: 84,885,219 (GRCm39) |
P1276L |
probably damaging |
Het |
Vmn2r8 |
T |
A |
5: 108,956,447 (GRCm39) |
E58D |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,011,598 (GRCm39) |
C40F |
probably damaging |
Het |
|
Other mutations in Rhobtb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01482:Rhobtb2
|
APN |
14 |
70,034,037 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02437:Rhobtb2
|
APN |
14 |
70,033,365 (GRCm39) |
missense |
probably damaging |
1.00 |
dichotomy
|
UTSW |
14 |
70,038,104 (GRCm39) |
missense |
probably damaging |
1.00 |
gutsy
|
UTSW |
14 |
70,038,080 (GRCm39) |
missense |
probably damaging |
1.00 |
Paunchy
|
UTSW |
14 |
70,035,627 (GRCm39) |
missense |
probably damaging |
1.00 |
reeses
|
UTSW |
14 |
70,037,160 (GRCm39) |
missense |
probably damaging |
1.00 |
smoke
|
UTSW |
14 |
70,033,893 (GRCm39) |
missense |
probably damaging |
0.99 |
waft
|
UTSW |
14 |
70,034,184 (GRCm39) |
missense |
probably benign |
0.22 |
R0034:Rhobtb2
|
UTSW |
14 |
70,026,137 (GRCm39) |
missense |
probably benign |
|
R0149:Rhobtb2
|
UTSW |
14 |
70,033,357 (GRCm39) |
missense |
probably benign |
0.02 |
R0361:Rhobtb2
|
UTSW |
14 |
70,033,357 (GRCm39) |
missense |
probably benign |
0.02 |
R0376:Rhobtb2
|
UTSW |
14 |
70,034,184 (GRCm39) |
missense |
probably benign |
0.22 |
R0594:Rhobtb2
|
UTSW |
14 |
70,031,397 (GRCm39) |
missense |
probably benign |
|
R1005:Rhobtb2
|
UTSW |
14 |
70,035,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R1072:Rhobtb2
|
UTSW |
14 |
70,024,976 (GRCm39) |
small deletion |
probably benign |
|
R1929:Rhobtb2
|
UTSW |
14 |
70,033,893 (GRCm39) |
missense |
probably damaging |
0.99 |
R1938:Rhobtb2
|
UTSW |
14 |
70,034,062 (GRCm39) |
missense |
probably benign |
0.01 |
R2058:Rhobtb2
|
UTSW |
14 |
70,031,488 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2244:Rhobtb2
|
UTSW |
14 |
70,024,976 (GRCm39) |
small deletion |
probably benign |
|
R2992:Rhobtb2
|
UTSW |
14 |
70,035,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R3953:Rhobtb2
|
UTSW |
14 |
70,031,488 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4655:Rhobtb2
|
UTSW |
14 |
70,033,438 (GRCm39) |
missense |
probably damaging |
0.97 |
R4712:Rhobtb2
|
UTSW |
14 |
70,037,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Rhobtb2
|
UTSW |
14 |
70,034,499 (GRCm39) |
missense |
probably benign |
0.20 |
R5648:Rhobtb2
|
UTSW |
14 |
70,034,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R5990:Rhobtb2
|
UTSW |
14 |
70,033,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R6166:Rhobtb2
|
UTSW |
14 |
70,035,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R6186:Rhobtb2
|
UTSW |
14 |
70,035,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Rhobtb2
|
UTSW |
14 |
70,033,397 (GRCm39) |
nonsense |
probably null |
|
R7591:Rhobtb2
|
UTSW |
14 |
70,037,190 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7626:Rhobtb2
|
UTSW |
14 |
70,034,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R7793:Rhobtb2
|
UTSW |
14 |
70,034,280 (GRCm39) |
missense |
probably benign |
0.01 |
R7898:Rhobtb2
|
UTSW |
14 |
70,033,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R8026:Rhobtb2
|
UTSW |
14 |
70,034,214 (GRCm39) |
missense |
probably benign |
0.41 |
R8109:Rhobtb2
|
UTSW |
14 |
70,038,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R8182:Rhobtb2
|
UTSW |
14 |
70,034,070 (GRCm39) |
missense |
probably benign |
|
R8687:Rhobtb2
|
UTSW |
14 |
70,038,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R8704:Rhobtb2
|
UTSW |
14 |
70,031,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R9166:Rhobtb2
|
UTSW |
14 |
70,034,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R9303:Rhobtb2
|
UTSW |
14 |
70,025,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R9304:Rhobtb2
|
UTSW |
14 |
70,025,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R9627:Rhobtb2
|
UTSW |
14 |
70,034,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R9686:Rhobtb2
|
UTSW |
14 |
70,034,005 (GRCm39) |
missense |
probably benign |
|
|
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
R47440068_PCR_F: 5’- GGATGCATAATCACTCCCTGG-3’
R47440068_PCR_R: 5’- CCCTACTCCACTAATGCTGTCAAG-3’ Sequencing Primers
R47440068_SEQ_F: 5’- GCATAATCACTCCCTGGGGTCTC-3’
R47440068_SEQ_R: 5’- ATGCTGTCAAGTCACTGAGC-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_000080, chromosome 14:69793829-69794228): ggatgcataa tcactccctg gggtctccgt gaccttgccc cagggaggtc cctgaacaac
actacagtta gttacctgtg agggcaacca agtgcggcag gcagaggcgg ttagccaaga
caatgagctt catatcatcc aggtctgggc tggaggtgaa catgcctgta tagaggtact
ccaacacagc tctcatgcag ctcttgcttg tgtatggaaa caccacctgg ggacggggaa
agaagcaggc aagtggcatg aagtccaggg tggcccagag ttcatcgtga cagatcaaga
cctgacttgg tgggcatcag ccttctgggc tgttcccgaa cctgcttagg gaaccccaat
aatcttggct cagtgacttg acagcattag tggagtaggg Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = A>G).
|