Incidental Mutation 'R1288:BC005537'
ID |
150680 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
BC005537
|
Ensembl Gene |
ENSMUSG00000019132 |
Gene Name |
cDNA sequence BC005537 |
Synonyms |
8030460C05Rik |
MMRRC Submission |
039354-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R1288 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
24985640-24996882 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24988883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 54
(E54V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019276]
[ENSMUST00000155575]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019276
AA Change: E83V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019276 Gene: ENSMUSG00000019132 AA Change: E83V
Domain | Start | End | E-Value | Type |
Pfam:DUF4566
|
1 |
226 |
5.9e-142 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155575
AA Change: E54V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123652 Gene: ENSMUSG00000019132 AA Change: E54V
Domain | Start | End | E-Value | Type |
Pfam:DUF4566
|
10 |
167 |
1.6e-102 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrd1 |
A |
T |
5: 129,206,071 (GRCm39) |
D247V |
probably damaging |
Het |
Ano5 |
A |
T |
7: 51,196,620 (GRCm39) |
S184C |
probably damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Atxn3 |
C |
T |
12: 101,908,437 (GRCm39) |
|
probably null |
Het |
Ccdc150 |
A |
T |
1: 54,403,617 (GRCm39) |
E881V |
probably damaging |
Het |
Cep126 |
A |
T |
9: 8,112,182 (GRCm39) |
N130K |
probably benign |
Het |
Enoph1 |
A |
G |
5: 100,188,138 (GRCm39) |
T21A |
possibly damaging |
Het |
Fbxw28 |
A |
G |
9: 109,166,361 (GRCm39) |
I165T |
probably damaging |
Het |
Lrp12 |
A |
T |
15: 39,741,799 (GRCm39) |
N305K |
probably damaging |
Het |
Msl2 |
A |
G |
9: 100,979,308 (GRCm39) |
T561A |
probably benign |
Het |
Mup21 |
G |
T |
4: 62,068,934 (GRCm39) |
A19E |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,244,544 (GRCm39) |
I1027T |
probably benign |
Het |
Nkg7 |
A |
G |
7: 43,087,086 (GRCm39) |
|
probably null |
Het |
Nme8 |
A |
G |
13: 19,858,619 (GRCm39) |
V73A |
possibly damaging |
Het |
Or2g1 |
T |
A |
17: 38,106,584 (GRCm39) |
L83Q |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,586,114 (GRCm39) |
T151A |
probably benign |
Het |
Or52a5 |
A |
T |
7: 103,427,249 (GRCm39) |
L101Q |
possibly damaging |
Het |
Or5w12 |
G |
A |
2: 87,501,916 (GRCm39) |
A265V |
probably benign |
Het |
Or6c69c |
A |
G |
10: 129,911,154 (GRCm39) |
N292D |
probably damaging |
Het |
Rapgef3 |
C |
A |
15: 97,657,223 (GRCm39) |
S267I |
probably benign |
Het |
Trhde |
T |
A |
10: 114,637,195 (GRCm39) |
D4V |
probably benign |
Het |
Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
Zfp40 |
T |
A |
17: 23,401,136 (GRCm39) |
I36L |
probably benign |
Het |
|
Other mutations in BC005537 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
E_pluribus_unum
|
UTSW |
13 |
24,987,382 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0096:BC005537
|
UTSW |
13 |
24,989,923 (GRCm39) |
missense |
probably damaging |
0.98 |
R0096:BC005537
|
UTSW |
13 |
24,989,923 (GRCm39) |
missense |
probably damaging |
0.98 |
R0711:BC005537
|
UTSW |
13 |
24,989,923 (GRCm39) |
missense |
probably damaging |
0.98 |
R1453:BC005537
|
UTSW |
13 |
24,989,969 (GRCm39) |
critical splice donor site |
probably null |
|
R2084:BC005537
|
UTSW |
13 |
24,996,698 (GRCm39) |
splice site |
probably null |
|
R2391:BC005537
|
UTSW |
13 |
24,993,898 (GRCm39) |
nonsense |
probably null |
|
R4052:BC005537
|
UTSW |
13 |
24,993,881 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4580:BC005537
|
UTSW |
13 |
24,987,394 (GRCm39) |
missense |
probably benign |
0.12 |
R7699:BC005537
|
UTSW |
13 |
24,987,382 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7748:BC005537
|
UTSW |
13 |
24,987,382 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7779:BC005537
|
UTSW |
13 |
24,987,382 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7781:BC005537
|
UTSW |
13 |
24,987,382 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7782:BC005537
|
UTSW |
13 |
24,987,382 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7783:BC005537
|
UTSW |
13 |
24,987,382 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7816:BC005537
|
UTSW |
13 |
24,987,382 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7817:BC005537
|
UTSW |
13 |
24,987,382 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7868:BC005537
|
UTSW |
13 |
24,987,382 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7869:BC005537
|
UTSW |
13 |
24,987,382 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8159:BC005537
|
UTSW |
13 |
24,993,916 (GRCm39) |
missense |
probably benign |
0.12 |
R9650:BC005537
|
UTSW |
13 |
24,986,122 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTCTCGGAATACAAGCTCTAAGTGA -3'
(R):5'- CAGGGAGTGATGGGTGCTTCTACA -3'
Sequencing Primer
(F):5'- AGCTCTAAGTGATGACACTAGATAG -3'
(R):5'- ATGGGTGCTTCTACATGCTTTATC -3'
|
Posted On |
2014-01-29 |