Incidental Mutation 'R7308:BC028528'
ID |
567379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
BC028528
|
Ensembl Gene |
ENSMUSG00000038543 |
Gene Name |
cDNA sequence BC028528 |
Synonyms |
L259 |
MMRRC Submission |
045323-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R7308 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
95791266-95799317 bp(-) (GRCm39) |
Type of Mutation |
small insertion (5 aa in frame mutation) |
DNA Base Change (assembly) |
ACTGGTTCTGTGGTC to ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC
at 95795481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036360]
[ENSMUST00000090476]
[ENSMUST00000171519]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036360
|
SMART Domains |
Protein: ENSMUSP00000046810 Gene: ENSMUSG00000038543
Domain | Start | End | E-Value | Type |
Pfam:DUF4634
|
1 |
145 |
3.6e-64 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090476
|
SMART Domains |
Protein: ENSMUSP00000102749 Gene: ENSMUSG00000038543
Domain | Start | End | E-Value | Type |
Pfam:DUF4634
|
1 |
146 |
1.8e-65 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171519
|
SMART Domains |
Protein: ENSMUSP00000127666 Gene: ENSMUSG00000038543
Domain | Start | End | E-Value | Type |
Pfam:DUF4634
|
1 |
146 |
1.5e-65 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,022,993 (GRCm39) |
I43T |
probably benign |
Het |
Ankar |
G |
A |
1: 72,690,953 (GRCm39) |
Q1175* |
probably null |
Het |
Aqr |
G |
A |
2: 113,934,543 (GRCm39) |
A1366V |
possibly damaging |
Het |
Arhgap45 |
G |
A |
10: 79,862,392 (GRCm39) |
|
probably null |
Het |
Atf7ip |
T |
A |
6: 136,542,087 (GRCm39) |
M607K |
probably benign |
Het |
Bcar3 |
T |
A |
3: 122,302,142 (GRCm39) |
V279E |
probably benign |
Het |
Cd96 |
C |
T |
16: 45,892,097 (GRCm39) |
|
probably null |
Het |
Cdca2 |
G |
A |
14: 67,932,440 (GRCm39) |
P488S |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,682,041 (GRCm39) |
V185A |
possibly damaging |
Het |
Col4a2 |
T |
G |
8: 11,456,856 (GRCm39) |
|
probably null |
Het |
Cyp4a12a |
A |
G |
4: 115,184,955 (GRCm39) |
R379G |
possibly damaging |
Het |
Defb34 |
A |
G |
8: 19,176,395 (GRCm39) |
S29G |
probably benign |
Het |
Dnah11 |
A |
G |
12: 117,959,010 (GRCm39) |
S2958P |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,631,596 (GRCm39) |
D4431G |
possibly damaging |
Het |
Egfem1 |
A |
T |
3: 29,206,015 (GRCm39) |
H84L |
probably benign |
Het |
Enah |
A |
T |
1: 181,733,950 (GRCm39) |
|
probably null |
Het |
Fam178b |
G |
T |
1: 36,698,488 (GRCm39) |
Q78K |
probably benign |
Het |
Glb1 |
A |
G |
9: 114,302,931 (GRCm39) |
N589S |
probably damaging |
Het |
Gm1527 |
C |
T |
3: 28,956,429 (GRCm39) |
H132Y |
probably benign |
Het |
Gm5799 |
A |
G |
14: 43,781,164 (GRCm39) |
R22G |
possibly damaging |
Het |
Grip2 |
T |
C |
6: 91,755,669 (GRCm39) |
D617G |
possibly damaging |
Het |
Hax1 |
A |
T |
3: 89,905,873 (GRCm39) |
D5E |
possibly damaging |
Het |
Hic1 |
A |
G |
11: 75,057,977 (GRCm39) |
L304P |
probably damaging |
Het |
Hmox1 |
T |
A |
8: 75,823,647 (GRCm39) |
I105N |
probably damaging |
Het |
Hormad1 |
T |
C |
3: 95,469,866 (GRCm39) |
S38P |
probably damaging |
Het |
Hspa4 |
A |
G |
11: 53,157,930 (GRCm39) |
S558P |
possibly damaging |
Het |
Kcnf1 |
T |
A |
12: 17,224,730 (GRCm39) |
H497L |
probably benign |
Het |
Kcnma1 |
C |
T |
14: 23,381,003 (GRCm39) |
D1022N |
probably damaging |
Het |
Kcnt1 |
T |
C |
2: 25,790,475 (GRCm39) |
F479S |
possibly damaging |
Het |
Krba1 |
T |
C |
6: 48,383,273 (GRCm39) |
V203A |
probably benign |
Het |
Lct |
G |
T |
1: 128,246,824 (GRCm39) |
P233Q |
probably benign |
Het |
Ly75 |
T |
C |
2: 60,164,859 (GRCm39) |
D773G |
probably benign |
Het |
Malt1 |
T |
C |
18: 65,582,680 (GRCm39) |
|
probably null |
Het |
Man1a2 |
A |
T |
3: 100,527,421 (GRCm39) |
L333Q |
probably damaging |
Het |
Mtus1 |
T |
C |
8: 41,535,965 (GRCm39) |
T584A |
probably benign |
Het |
Myof |
A |
T |
19: 37,899,359 (GRCm39) |
S1800R |
probably damaging |
Het |
Nbea |
A |
C |
3: 55,998,452 (GRCm39) |
C118W |
probably damaging |
Het |
Nsd3 |
A |
T |
8: 26,130,740 (GRCm39) |
D35V |
probably damaging |
Het |
Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
Or11g24 |
G |
A |
14: 50,662,722 (GRCm39) |
V249I |
possibly damaging |
Het |
Or2y1c |
G |
A |
11: 49,360,754 (GRCm39) |
|
probably benign |
Het |
Pcnx3 |
C |
T |
19: 5,736,175 (GRCm39) |
R217H |
possibly damaging |
Het |
Pcsk4 |
G |
A |
10: 80,159,007 (GRCm39) |
P462L |
probably benign |
Het |
Pdia5 |
T |
G |
16: 35,276,879 (GRCm39) |
K96N |
probably damaging |
Het |
Pik3c2a |
T |
C |
7: 115,973,074 (GRCm39) |
Y707C |
probably damaging |
Het |
Ppig |
A |
T |
2: 69,579,806 (GRCm39) |
N447Y |
unknown |
Het |
Ppp1r9b |
T |
C |
11: 94,895,397 (GRCm39) |
L695P |
possibly damaging |
Het |
Proser1 |
C |
T |
3: 53,386,125 (GRCm39) |
A669V |
probably benign |
Het |
Rdx |
A |
T |
9: 51,980,170 (GRCm39) |
K254N |
probably damaging |
Het |
Slc35f2 |
T |
C |
9: 53,705,294 (GRCm39) |
S95P |
probably benign |
Het |
Slc4a3 |
T |
A |
1: 75,534,006 (GRCm39) |
S1118T |
probably benign |
Het |
Slf1 |
G |
A |
13: 77,199,287 (GRCm39) |
P698L |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,801,602 (GRCm39) |
E2338G |
probably benign |
Het |
Taok3 |
T |
A |
5: 117,338,216 (GRCm39) |
Y91* |
probably null |
Het |
Tbc1d31 |
C |
T |
15: 57,816,212 (GRCm39) |
L649F |
probably damaging |
Het |
Tdpoz8 |
A |
G |
3: 92,981,872 (GRCm39) |
T223A |
probably benign |
Het |
Tmem132b |
A |
T |
5: 125,864,710 (GRCm39) |
I939F |
possibly damaging |
Het |
Trav17 |
T |
A |
14: 54,044,436 (GRCm39) |
Y69N |
probably benign |
Het |
Trmt13 |
T |
C |
3: 116,388,388 (GRCm39) |
D16G |
probably benign |
Het |
Upf2 |
T |
A |
2: 5,978,329 (GRCm39) |
Y398N |
unknown |
Het |
Vmn1r238 |
T |
C |
18: 3,122,875 (GRCm39) |
T180A |
probably benign |
Het |
Zfp738 |
A |
T |
13: 67,817,672 (GRCm39) |
I773N |
probably benign |
Het |
Zscan4e |
A |
T |
7: 11,041,080 (GRCm39) |
M264K |
probably benign |
Het |
|
Other mutations in BC028528 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01686:BC028528
|
APN |
3 |
95,796,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R0157:BC028528
|
UTSW |
3 |
95,792,280 (GRCm39) |
critical splice donor site |
probably null |
|
R0164:BC028528
|
UTSW |
3 |
95,794,646 (GRCm39) |
intron |
probably benign |
|
R0306:BC028528
|
UTSW |
3 |
95,797,132 (GRCm39) |
unclassified |
probably benign |
|
R1478:BC028528
|
UTSW |
3 |
95,799,271 (GRCm39) |
splice site |
probably null |
|
R4204:BC028528
|
UTSW |
3 |
95,797,057 (GRCm39) |
nonsense |
probably null |
|
R4649:BC028528
|
UTSW |
3 |
95,795,577 (GRCm39) |
missense |
probably damaging |
0.99 |
R5022:BC028528
|
UTSW |
3 |
95,796,135 (GRCm39) |
intron |
probably benign |
|
R6541:BC028528
|
UTSW |
3 |
95,795,530 (GRCm39) |
missense |
probably benign |
0.00 |
R6683:BC028528
|
UTSW |
3 |
95,795,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R6980:BC028528
|
UTSW |
3 |
95,795,480 (GRCm39) |
small insertion |
probably benign |
|
R6980:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R6980:BC028528
|
UTSW |
3 |
95,795,451 (GRCm39) |
small insertion |
probably benign |
|
R7058:BC028528
|
UTSW |
3 |
95,792,323 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7180:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7308:BC028528
|
UTSW |
3 |
95,795,464 (GRCm39) |
small insertion |
probably benign |
|
R7308:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7310:BC028528
|
UTSW |
3 |
95,795,460 (GRCm39) |
small insertion |
probably benign |
|
R7310:BC028528
|
UTSW |
3 |
95,795,485 (GRCm39) |
small insertion |
probably benign |
|
R7310:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7310:BC028528
|
UTSW |
3 |
95,795,451 (GRCm39) |
small insertion |
probably benign |
|
R7356:BC028528
|
UTSW |
3 |
95,795,470 (GRCm39) |
small insertion |
probably benign |
|
R7356:BC028528
|
UTSW |
3 |
95,795,477 (GRCm39) |
small insertion |
probably benign |
|
R7356:BC028528
|
UTSW |
3 |
95,795,487 (GRCm39) |
small insertion |
probably benign |
|
R7356:BC028528
|
UTSW |
3 |
95,795,495 (GRCm39) |
small insertion |
probably benign |
|
R7356:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7356:BC028528
|
UTSW |
3 |
95,795,453 (GRCm39) |
small insertion |
probably benign |
|
R7376:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7430:BC028528
|
UTSW |
3 |
95,795,481 (GRCm39) |
small insertion |
probably benign |
|
R7430:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7490:BC028528
|
UTSW |
3 |
95,795,498 (GRCm39) |
small insertion |
probably benign |
|
R7490:BC028528
|
UTSW |
3 |
95,795,478 (GRCm39) |
small insertion |
probably benign |
|
R7490:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7491:BC028528
|
UTSW |
3 |
95,795,450 (GRCm39) |
small insertion |
probably benign |
|
R7491:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7565:BC028528
|
UTSW |
3 |
95,795,456 (GRCm39) |
small insertion |
probably benign |
|
R7565:BC028528
|
UTSW |
3 |
95,795,450 (GRCm39) |
small insertion |
probably benign |
|
R7565:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7568:BC028528
|
UTSW |
3 |
95,795,484 (GRCm39) |
small insertion |
probably benign |
|
R7568:BC028528
|
UTSW |
3 |
95,795,463 (GRCm39) |
small insertion |
probably benign |
|
R7568:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7635:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7672:BC028528
|
UTSW |
3 |
95,795,487 (GRCm39) |
small insertion |
probably benign |
|
R7672:BC028528
|
UTSW |
3 |
95,795,455 (GRCm39) |
small insertion |
probably benign |
|
R7672:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7909:BC028528
|
UTSW |
3 |
95,795,476 (GRCm39) |
small insertion |
probably benign |
|
R7909:BC028528
|
UTSW |
3 |
95,795,475 (GRCm39) |
small insertion |
probably benign |
|
R7909:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7909:BC028528
|
UTSW |
3 |
95,795,489 (GRCm39) |
small insertion |
probably benign |
|
R7909:BC028528
|
UTSW |
3 |
95,795,480 (GRCm39) |
small insertion |
probably benign |
|
R7912:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7912:BC028528
|
UTSW |
3 |
95,795,483 (GRCm39) |
small insertion |
probably benign |
|
R7912:BC028528
|
UTSW |
3 |
95,795,466 (GRCm39) |
small insertion |
probably benign |
|
R7912:BC028528
|
UTSW |
3 |
95,795,456 (GRCm39) |
small insertion |
probably benign |
|
R7912:BC028528
|
UTSW |
3 |
95,795,454 (GRCm39) |
small insertion |
probably benign |
|
R7912:BC028528
|
UTSW |
3 |
95,795,452 (GRCm39) |
small insertion |
probably benign |
|
R7912:BC028528
|
UTSW |
3 |
95,795,450 (GRCm39) |
small insertion |
probably benign |
|
R7958:BC028528
|
UTSW |
3 |
95,796,224 (GRCm39) |
missense |
probably benign |
0.01 |
R8337:BC028528
|
UTSW |
3 |
95,792,298 (GRCm39) |
missense |
probably benign |
0.03 |
R9288:BC028528
|
UTSW |
3 |
95,799,227 (GRCm39) |
missense |
probably benign |
0.00 |
R9454:BC028528
|
UTSW |
3 |
95,797,082 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCTCTGTCCTCAACACAG -3'
(R):5'- GCATCTATGGAGATACTGTATGGAA -3'
Sequencing Primer
(F):5'- CAATTGGAGAATTGCCTCTGTCAG -3'
(R):5'- TGGAAGAAATGATAACTGTTTCCC -3'
|
Posted On |
2019-06-26 |