Incidental Mutation 'R3744:BC004004'
| ID |
271140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC004004
|
| Ensembl Gene |
ENSMUSG00000052712 |
| Gene Name |
cDNA sequence BC004004 |
| Synonyms |
2400006G15Rik |
| MMRRC Submission |
040730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
29487762-29521862 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 29520423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 349
(*349W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064709]
[ENSMUST00000120346]
[ENSMUST00000149405]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064709
AA Change: *349W
|
| SMART Domains |
Protein: ENSMUSP00000066224
Gene: ENSMUSG00000052712
AA Change: *349W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120346
AA Change: *349W
|
| SMART Domains |
Protein: ENSMUSP00000113315
Gene: ENSMUSG00000052712
AA Change: *349W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000149405
AA Change: *349W
|
| SMART Domains |
Protein: ENSMUSP00000117309
Gene: ENSMUSG00000052712
AA Change: *349W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150874
|
| Meta Mutation Damage Score |
0.8893 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,330,190 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
| Elmo2 |
C |
T |
2: 165,157,922 (GRCm39) |
D39N |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,970,410 (GRCm39) |
F196S |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,416 (GRCm39) |
V276A |
unknown |
Het |
| Fn3krp |
T |
C |
11: 121,317,531 (GRCm39) |
|
probably null |
Het |
| Gnai3 |
T |
C |
3: 108,016,714 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,292,815 (GRCm39) |
|
probably benign |
Het |
| Igkv5-43 |
G |
A |
6: 69,752,921 (GRCm39) |
H54Y |
probably benign |
Het |
| Kif26b |
A |
G |
1: 178,506,595 (GRCm39) |
I224V |
probably benign |
Het |
| Lyg1 |
T |
C |
1: 37,988,923 (GRCm39) |
Y99C |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,146,141 (GRCm39) |
R1400C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,439,573 (GRCm39) |
S2262P |
probably benign |
Het |
| Pop5 |
T |
C |
5: 115,378,567 (GRCm39) |
Y117H |
possibly damaging |
Het |
| Prpf8 |
T |
A |
11: 75,397,547 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,516,760 (GRCm39) |
F54S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,647,174 (GRCm39) |
T1954A |
probably benign |
Het |
| Ssbp2 |
T |
C |
13: 91,828,765 (GRCm39) |
|
probably benign |
Het |
| Tap1 |
A |
T |
17: 34,412,586 (GRCm39) |
D541V |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,597 (GRCm39) |
D291G |
probably damaging |
Het |
| Tpbg |
A |
G |
9: 85,727,215 (GRCm39) |
R395G |
probably damaging |
Het |
| Trappc10 |
T |
A |
10: 78,034,924 (GRCm39) |
S941C |
probably benign |
Het |
| Usp19 |
G |
A |
9: 108,377,380 (GRCm39) |
R886Q |
probably damaging |
Het |
| Utp14b |
G |
T |
1: 78,642,973 (GRCm39) |
E290D |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,804 (GRCm39) |
Y9* |
probably null |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,890 (GRCm39) |
H426R |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,351,817 (GRCm39) |
D27G |
probably benign |
Het |
| Zfp36 |
A |
G |
7: 28,077,201 (GRCm39) |
S236P |
probably benign |
Het |
| Zfp616 |
C |
A |
11: 73,974,813 (GRCm39) |
H452N |
probably benign |
Het |
|
| Other mutations in BC004004 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:BC004004
|
APN |
17 |
29,501,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01454:BC004004
|
APN |
17 |
29,512,995 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02437:BC004004
|
APN |
17 |
29,517,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0677:BC004004
|
UTSW |
17 |
29,517,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:BC004004
|
UTSW |
17 |
29,515,665 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4017:BC004004
|
UTSW |
17 |
29,517,706 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4417:BC004004
|
UTSW |
17 |
29,501,249 (GRCm39) |
splice site |
probably benign |
|
|
R4883:BC004004
|
UTSW |
17 |
29,501,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:BC004004
|
UTSW |
17 |
29,513,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5619:BC004004
|
UTSW |
17 |
29,501,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:BC004004
|
UTSW |
17 |
29,501,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5846:BC004004
|
UTSW |
17 |
29,501,282 (GRCm39) |
intron |
probably benign |
|
|
R6259:BC004004
|
UTSW |
17 |
29,517,686 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8087:BC004004
|
UTSW |
17 |
29,513,064 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9015:BC004004
|
UTSW |
17 |
29,517,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:BC004004
|
UTSW |
17 |
29,501,130 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9308:BC004004
|
UTSW |
17 |
29,513,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9328:BC004004
|
UTSW |
17 |
29,501,682 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
RF012:BC004004
|
UTSW |
17 |
29,501,782 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCAGAGACCTTCAGAGTAAG -3'
(R):5'- CAGGCTTCCATCTTTCCTGAGG -3'
Sequencing Primer
(F):5'- GACCTTCAGAGTAAGAGCAGCC -3'
(R):5'- TCTTTCCTGAGGAAGCTACAGACAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation