Incidental Mutation 'R7376:BC028528'
| ID |
572370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC028528
|
| Ensembl Gene |
ENSMUSG00000038543 |
| Gene Name |
cDNA sequence BC028528 |
| Synonyms |
L259 |
| MMRRC Submission |
045459-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R7376 (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) |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT to CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT
at 95795448 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,241,118 (GRCm39) |
I994V |
probably benign |
Het |
| Acan |
T |
G |
7: 78,738,055 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
G |
A |
15: 11,277,425 (GRCm39) |
V680I |
possibly damaging |
Het |
| Adgrg7 |
T |
C |
16: 56,545,342 (GRCm39) |
I712V |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,942,597 (GRCm39) |
H1477R |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,666,245 (GRCm39) |
D1937V |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,599,088 (GRCm39) |
S1305P |
probably benign |
Het |
| Banp |
T |
A |
8: 122,701,236 (GRCm39) |
M39K |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,135,111 (GRCm39) |
T75A |
probably benign |
Het |
| Bltp3b |
G |
A |
10: 89,645,518 (GRCm39) |
G1197D |
probably damaging |
Het |
| Brinp2 |
C |
T |
1: 158,078,938 (GRCm39) |
C295Y |
probably damaging |
Het |
| Card11 |
C |
T |
5: 140,883,993 (GRCm39) |
V429I |
probably benign |
Het |
| Cdca3 |
G |
A |
6: 124,809,538 (GRCm39) |
R184H |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,067,509 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
G |
4: 126,484,430 (GRCm39) |
K1196R |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,894,994 (GRCm39) |
T89A |
possibly damaging |
Het |
| Cpne9 |
A |
T |
6: 113,266,974 (GRCm39) |
I136L |
probably damaging |
Het |
| Crat |
T |
A |
2: 30,296,477 (GRCm39) |
I330F |
probably damaging |
Het |
| Ctbp2 |
G |
T |
7: 132,615,697 (GRCm39) |
Q413K |
possibly damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,151,238 (GRCm39) |
E1220G |
probably damaging |
Het |
| Dap |
A |
G |
15: 31,235,985 (GRCm39) |
D41G |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,590,967 (GRCm39) |
I3287V |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,356,819 (GRCm39) |
H233R |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,231,770 (GRCm39) |
I3121T |
probably benign |
Het |
| Espnl |
T |
G |
1: 91,250,036 (GRCm39) |
L61R |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,527,983 (GRCm39) |
S331P |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,050,344 (GRCm39) |
E535G |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,043,084 (GRCm39) |
I650T |
possibly damaging |
Het |
| Iyd |
T |
A |
10: 3,495,690 (GRCm39) |
I116N |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,553,792 (GRCm39) |
L1002S |
probably damaging |
Het |
| Kifbp |
C |
T |
10: 62,394,843 (GRCm39) |
V600I |
possibly damaging |
Het |
| Lgi1 |
G |
A |
19: 38,272,468 (GRCm39) |
G113D |
probably damaging |
Het |
| Lgi2 |
G |
A |
5: 52,695,604 (GRCm39) |
R452C |
probably damaging |
Het |
| Man2b2 |
T |
G |
5: 36,970,722 (GRCm39) |
N764T |
probably damaging |
Het |
| Mrps18b |
A |
G |
17: 36,221,587 (GRCm39) |
I246T |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,426,287 (GRCm39) |
T4795A |
possibly damaging |
Het |
| Mybl2 |
G |
A |
2: 162,924,513 (GRCm39) |
G627D |
possibly damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,794 (GRCm39) |
R16K |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,121 (GRCm39) |
V271E |
possibly damaging |
Het |
| P4htm |
C |
T |
9: 108,457,991 (GRCm39) |
V335M |
probably damaging |
Het |
| Pbx3 |
A |
G |
2: 34,094,889 (GRCm39) |
I249T |
probably damaging |
Het |
| Plod3 |
G |
T |
5: 137,019,335 (GRCm39) |
V360L |
probably benign |
Het |
| Podxl2 |
C |
T |
6: 88,826,632 (GRCm39) |
D161N |
probably benign |
Het |
| Polr1b |
G |
T |
2: 128,960,993 (GRCm39) |
V651L |
probably benign |
Het |
| Prr14 |
T |
C |
7: 127,075,749 (GRCm39) |
S586P |
probably benign |
Het |
| Pum3 |
C |
T |
19: 27,371,728 (GRCm39) |
G575D |
probably benign |
Het |
| Rnf157 |
C |
A |
11: 116,251,192 (GRCm39) |
A111S |
probably benign |
Het |
| Robo3 |
A |
G |
9: 37,344,212 (GRCm39) |
L29P |
probably damaging |
Het |
| Smarca5 |
T |
C |
8: 81,452,680 (GRCm39) |
N342S |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,009,078 (GRCm39) |
I198K |
probably benign |
Het |
| Tmem177 |
A |
T |
1: 119,837,744 (GRCm39) |
*312R |
probably null |
Het |
| Tom1l2 |
A |
T |
11: 60,152,026 (GRCm39) |
M172K |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,756,414 (GRCm39) |
V3A |
unknown |
Het |
| Vmn1r128 |
G |
T |
7: 21,083,668 (GRCm39) |
G124V |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,342 (GRCm39) |
I70T |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,631 (GRCm39) |
T665A |
probably damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,314,790 (GRCm39) |
F346S |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,910,691 (GRCm39) |
D694E |
probably 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 |
|
|
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 |
|
|
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'- AAAGTTGTCCTCTGTCCTCAAC -3'
(R):5'- AATCCTACCGAGGGCAGAAC -3'
Sequencing Primer
(F):5'- CAATTGGAGAATTGCCTCTGTCAG -3'
(R):5'- CTACCGAGGGCAGAACAGGTTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation