Incidental Mutation 'R7568:BC028528'
ID |
585575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
BC028528
|
Ensembl Gene |
ENSMUSG00000038543 |
Gene Name |
cDNA sequence BC028528 |
Synonyms |
L259 |
MMRRC Submission |
045630-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R7568 (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) |
GGTTCTGTGGTCACT to GGTTCTGTGGTCACTAGTTCTGTGGTCACT
at 95795484 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: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
T |
A |
13: 111,391,956 (GRCm39) |
V97E |
possibly damaging |
Het |
Actl7a |
A |
T |
4: 56,744,498 (GRCm39) |
T342S |
probably damaging |
Het |
Alcam |
A |
G |
16: 52,088,749 (GRCm39) |
S554P |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,780,638 (GRCm39) |
|
probably benign |
Het |
Atad2b |
T |
A |
12: 5,060,390 (GRCm39) |
|
probably null |
Het |
Baz2a |
T |
C |
10: 127,961,139 (GRCm39) |
S1621P |
possibly damaging |
Het |
Best1 |
T |
A |
19: 9,966,639 (GRCm39) |
|
probably null |
Het |
Catip |
G |
T |
1: 74,408,089 (GRCm39) |
E474* |
probably null |
Het |
Comp |
A |
G |
8: 70,826,509 (GRCm39) |
D28G |
probably benign |
Het |
Crebbp |
G |
A |
16: 3,944,353 (GRCm39) |
R600W |
probably benign |
Het |
Cyfip1 |
A |
G |
7: 55,521,997 (GRCm39) |
|
probably null |
Het |
Ddr1 |
A |
G |
17: 35,995,174 (GRCm39) |
S675P |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,926,898 (GRCm39) |
|
probably null |
Het |
F2rl1 |
G |
A |
13: 95,650,522 (GRCm39) |
A120V |
probably damaging |
Het |
Fam136a |
A |
G |
6: 86,342,784 (GRCm39) |
N24D |
probably benign |
Het |
Fbxw10 |
C |
A |
11: 62,765,994 (GRCm39) |
Q755K |
probably benign |
Het |
Fbxw16 |
C |
A |
9: 109,268,657 (GRCm39) |
Q244H |
possibly damaging |
Het |
Gabrg2 |
T |
C |
11: 41,807,119 (GRCm39) |
K373E |
probably benign |
Het |
Herc3 |
G |
A |
6: 58,820,795 (GRCm39) |
V60I |
probably benign |
Het |
Igkv19-93 |
T |
A |
6: 68,713,477 (GRCm39) |
K51* |
probably null |
Het |
Krt23 |
T |
A |
11: 99,383,626 (GRCm39) |
K89* |
probably null |
Het |
Mavs |
A |
G |
2: 131,087,395 (GRCm39) |
T298A |
probably benign |
Het |
Mlec |
T |
C |
5: 115,288,181 (GRCm39) |
Y198C |
probably damaging |
Het |
Ncam2 |
C |
A |
16: 81,386,689 (GRCm39) |
N689K |
probably benign |
Het |
Nfkbia |
A |
G |
12: 55,538,546 (GRCm39) |
I82T |
probably damaging |
Het |
Or12d14-ps1 |
A |
G |
17: 37,673,496 (GRCm39) |
I163V |
probably benign |
Het |
Or12j2 |
A |
G |
7: 139,915,895 (GRCm39) |
N40S |
probably damaging |
Het |
Or7a35 |
A |
T |
10: 78,853,341 (GRCm39) |
I62F |
probably benign |
Het |
Or8b43 |
A |
G |
9: 38,360,942 (GRCm39) |
Y258C |
probably damaging |
Het |
Pom121l2 |
A |
T |
13: 22,166,796 (GRCm39) |
I356F |
probably benign |
Het |
Ppip5k1 |
A |
T |
2: 121,168,096 (GRCm39) |
L719Q |
probably damaging |
Het |
Satb1 |
A |
T |
17: 52,089,752 (GRCm39) |
V365D |
possibly damaging |
Het |
Scrn2 |
T |
C |
11: 96,921,712 (GRCm39) |
Y61H |
probably damaging |
Het |
Siglec1 |
C |
T |
2: 130,914,602 (GRCm39) |
V1505M |
probably damaging |
Het |
Slc2a10 |
A |
G |
2: 165,356,802 (GRCm39) |
N154S |
probably damaging |
Het |
Slc39a10 |
A |
T |
1: 46,874,290 (GRCm39) |
H337Q |
probably benign |
Het |
Slc39a12 |
T |
A |
2: 14,404,939 (GRCm39) |
|
probably null |
Het |
Slc6a6 |
T |
G |
6: 91,701,832 (GRCm39) |
L80R |
probably damaging |
Het |
Slit1 |
T |
C |
19: 41,590,074 (GRCm39) |
Y1404C |
probably damaging |
Het |
Sowahc |
A |
G |
10: 59,059,121 (GRCm39) |
E419G |
probably damaging |
Het |
Ssh1 |
T |
C |
5: 114,095,441 (GRCm39) |
|
probably null |
Het |
Stab1 |
C |
A |
14: 30,874,552 (GRCm39) |
C952F |
probably damaging |
Het |
Stat5a |
T |
C |
11: 100,765,850 (GRCm39) |
M312T |
possibly damaging |
Het |
Tex2 |
A |
G |
11: 106,439,562 (GRCm39) |
I606T |
unknown |
Het |
Tex55 |
T |
C |
16: 38,648,809 (GRCm39) |
E100G |
possibly damaging |
Het |
Vmn1r19 |
A |
G |
6: 57,381,813 (GRCm39) |
H122R |
possibly damaging |
Het |
Zfp959 |
A |
G |
17: 56,204,886 (GRCm39) |
I308V |
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 |
95,795,481 (GRCm39) |
small insertion |
probably benign |
|
R7308:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
R7308:BC028528
|
UTSW |
3 |
95,795,464 (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 |
95,795,463 (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'- CAATACCTCCATAGCAGCATTAATG -3'
(R):5'- AATCTGTACTAGCAGCAGGC -3'
Sequencing Primer
(F):5'- GCAGCATTAATGACACAGTTCTGC -3'
(R):5'- AGACATCCCTGAGCCTGTG -3'
|
Posted On |
2019-10-17 |