Incidental Mutation 'R0306:BC028528'
| ID |
35789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC028528
|
| Ensembl Gene |
ENSMUSG00000038543 |
| Gene Name |
cDNA sequence BC028528 |
| Synonyms |
L259 |
| MMRRC Submission |
038517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R0306 (G1)
|
| Quality Score |
190 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95791266-95799317 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 95797132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015894]
[ENSMUST00000036360]
[ENSMUST00000056710]
[ENSMUST00000090476]
[ENSMUST00000171519]
[ENSMUST00000197081]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015894
|
| SMART Domains |
Protein: ENSMUSP00000015894
Gene: ENSMUSG00000015750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aph-1
|
2 |
246 |
7.3e-98 |
PFAM |
|
| 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: ENSMUST00000056710
|
| SMART Domains |
Protein: ENSMUSP00000058846
Gene: ENSMUSG00000015750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aph-1
|
2 |
239 |
1.2e-96 |
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 |
noncoding transcript
Transcript: ENSMUST00000120398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142433
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197232
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197081
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
94% (61/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l1 |
T |
C |
6: 48,953,020 (GRCm39) |
V315A |
probably damaging |
Het |
| Bspry |
T |
C |
4: 62,414,394 (GRCm39) |
F329S |
probably damaging |
Het |
| Cd209a |
A |
G |
8: 3,795,535 (GRCm39) |
Y120H |
probably benign |
Het |
| Ces1f |
T |
C |
8: 94,003,172 (GRCm39) |
|
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,896 (GRCm39) |
N58D |
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,549,896 (GRCm39) |
|
probably benign |
Het |
| Chst8 |
T |
C |
7: 34,374,723 (GRCm39) |
E372G |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,209,373 (GRCm39) |
V270A |
probably damaging |
Het |
| Ddx49 |
A |
G |
8: 70,747,322 (GRCm39) |
|
probably benign |
Het |
| Ddx52 |
G |
T |
11: 83,835,474 (GRCm39) |
L133F |
probably benign |
Het |
| Defb26 |
T |
A |
2: 152,349,888 (GRCm39) |
I131F |
unknown |
Het |
| Dip2c |
T |
A |
13: 9,654,635 (GRCm39) |
S719T |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,916,096 (GRCm39) |
S94G |
possibly damaging |
Het |
| Dytn |
G |
A |
1: 63,724,272 (GRCm39) |
P3S |
possibly damaging |
Het |
| Fmn2 |
T |
C |
1: 174,437,050 (GRCm39) |
|
probably benign |
Het |
| Gal3st1 |
T |
A |
11: 3,948,546 (GRCm39) |
L251Q |
probably damaging |
Het |
| Gm19684 |
A |
T |
17: 36,438,300 (GRCm39) |
|
probably benign |
Het |
| Il15 |
T |
A |
8: 83,061,083 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
C |
T |
2: 136,927,855 (GRCm39) |
G852D |
probably damaging |
Het |
| Kbtbd4 |
A |
G |
2: 90,744,530 (GRCm39) |
|
probably benign |
Het |
| Kdm3b |
C |
A |
18: 34,937,070 (GRCm39) |
Q451K |
probably benign |
Het |
| Lrfn2 |
A |
T |
17: 49,403,283 (GRCm39) |
I469F |
probably damaging |
Het |
| Mep1a |
A |
T |
17: 43,813,534 (GRCm39) |
|
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,944,986 (GRCm39) |
F70S |
probably damaging |
Het |
| Nav2 |
C |
A |
7: 49,195,651 (GRCm39) |
P1009Q |
probably benign |
Het |
| Noc3l |
T |
C |
19: 38,796,094 (GRCm39) |
Y334C |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,910,019 (GRCm39) |
Y180* |
probably null |
Het |
| Nup210l |
T |
C |
3: 90,114,675 (GRCm39) |
I1750T |
probably benign |
Het |
| Or51s1 |
A |
T |
7: 102,559,010 (GRCm39) |
I12N |
probably benign |
Het |
| Or5p53 |
A |
T |
7: 107,532,907 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8u9 |
T |
A |
2: 86,002,060 (GRCm39) |
I34F |
possibly damaging |
Het |
| Parp14 |
A |
G |
16: 35,676,944 (GRCm39) |
L1008P |
probably benign |
Het |
| Paxbp1 |
A |
G |
16: 90,819,003 (GRCm39) |
V759A |
possibly damaging |
Het |
| Prdm10 |
C |
A |
9: 31,227,520 (GRCm39) |
Q42K |
probably damaging |
Het |
| Prkcsh |
T |
C |
9: 21,917,822 (GRCm39) |
|
probably benign |
Het |
| Psmg1 |
A |
G |
16: 95,788,540 (GRCm39) |
C138R |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,179,893 (GRCm39) |
M1437T |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,606,000 (GRCm39) |
|
probably null |
Het |
| Serpinf1 |
T |
C |
11: 75,304,761 (GRCm39) |
Y200C |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,881,167 (GRCm39) |
H130R |
probably damaging |
Het |
| Slc22a1 |
A |
G |
17: 12,881,485 (GRCm39) |
F335L |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,975,638 (GRCm39) |
N683S |
probably damaging |
Het |
| Slc9a9 |
A |
T |
9: 95,019,987 (GRCm39) |
T519S |
probably benign |
Het |
| Smarca2 |
T |
A |
19: 26,618,013 (GRCm39) |
L348Q |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,332,855 (GRCm39) |
D521G |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
| Srp19 |
T |
C |
18: 34,467,629 (GRCm39) |
|
probably benign |
Het |
| Stk35 |
T |
A |
2: 129,643,683 (GRCm39) |
Y222* |
probably null |
Het |
| Syt10 |
T |
G |
15: 89,711,191 (GRCm39) |
K114T |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,478,180 (GRCm39) |
V662A |
probably benign |
Het |
| Ttll4 |
G |
A |
1: 74,735,916 (GRCm39) |
R1066Q |
probably benign |
Het |
| Tulp2 |
C |
T |
7: 45,168,000 (GRCm39) |
|
probably benign |
Het |
| Unc5b |
C |
A |
10: 60,615,437 (GRCm39) |
|
probably benign |
Het |
| Vmn1r230 |
T |
A |
17: 21,066,895 (GRCm39) |
I28K |
possibly damaging |
Het |
| Vmn2r118 |
A |
C |
17: 55,915,616 (GRCm39) |
F445V |
possibly damaging |
Het |
| Zfp142 |
C |
T |
1: 74,609,341 (GRCm39) |
E1485K |
probably damaging |
Het |
| Zfp819 |
C |
A |
7: 43,266,621 (GRCm39) |
A292E |
possibly damaging |
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 |
|
|
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 |
95,795,484 (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'- GGAACTAAGTGGTCCCCAAATCTACCC -3'
(R):5'- CAGTGGAGCTGGAAGTAAAACCAAATCT -3'
Sequencing Primer
(F):5'- CCCACTAAGAATCAGAGCCTTTC -3'
(R):5'- atctgcctgcctctgcc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation