Incidental Mutation 'R5302:BC035947'
ID |
404278 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
BC035947
|
Ensembl Gene |
ENSMUSG00000090486 |
Gene Name |
cDNA sequence BC035947 |
Synonyms |
|
MMRRC Submission |
042885-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R5302 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
78473663-78488795 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 78488599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012331]
[ENSMUST00000113524]
[ENSMUST00000134947]
[ENSMUST00000149732]
[ENSMUST00000152111]
[ENSMUST00000170511]
|
AlphaFold |
B2RQY6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000012331
AA Change: M1L
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000012331 Gene: ENSMUSG00000012187 AA Change: M1L
Domain | Start | End | E-Value | Type |
Pfam:DAGAT
|
40 |
335 |
3.2e-117 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113524
AA Change: M1L
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000109152 Gene: ENSMUSG00000012187 AA Change: M1L
Domain | Start | End | E-Value | Type |
Pfam:DAGAT
|
40 |
335 |
3.2e-117 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134947
AA Change: M1L
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000116178 Gene: ENSMUSG00000012187 AA Change: M1L
Domain | Start | End | E-Value | Type |
Pfam:DAGAT
|
40 |
201 |
2.9e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149732
|
SMART Domains |
Protein: ENSMUSP00000117903 Gene: ENSMUSG00000012187
Domain | Start | End | E-Value | Type |
Pfam:DAGAT
|
9 |
247 |
3.4e-91 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152111
AA Change: M1L
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000123427 Gene: ENSMUSG00000012187 AA Change: M1L
Domain | Start | End | E-Value | Type |
Pfam:DAGAT
|
40 |
82 |
1.9e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170511
AA Change: M1K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000132488 Gene: ENSMUSG00000090486 AA Change: M1K
Domain | Start | End | E-Value | Type |
PDB:2M9U|A
|
43 |
87 |
3e-13 |
PDB |
Pfam:TLV_coat
|
109 |
691 |
3.8e-147 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,323,111 (GRCm39) |
V1657A |
possibly damaging |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Acot5 |
A |
G |
12: 84,120,215 (GRCm39) |
Y190C |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,583,873 (GRCm39) |
Y941N |
probably benign |
Het |
C2cd5 |
A |
G |
6: 143,019,482 (GRCm39) |
C278R |
probably benign |
Het |
Cd200r1 |
G |
T |
16: 44,613,172 (GRCm39) |
L259F |
possibly damaging |
Het |
Clcn4 |
A |
G |
7: 7,297,050 (GRCm39) |
V136A |
possibly damaging |
Het |
Cntnap5a |
T |
C |
1: 116,085,300 (GRCm39) |
S413P |
probably benign |
Het |
Corin |
T |
A |
5: 72,473,441 (GRCm39) |
E748D |
probably benign |
Het |
Crtc2 |
G |
T |
3: 90,168,325 (GRCm39) |
G356V |
probably damaging |
Het |
D1Pas1 |
T |
A |
1: 186,701,642 (GRCm39) |
Y524N |
probably damaging |
Het |
Dlgap4 |
T |
C |
2: 156,602,818 (GRCm39) |
S147P |
probably damaging |
Het |
Eif1ad16 |
T |
A |
12: 87,985,316 (GRCm39) |
I76F |
probably damaging |
Het |
Enpp1 |
A |
T |
10: 24,527,288 (GRCm39) |
I633N |
probably benign |
Het |
Gm3095 |
A |
G |
14: 15,170,367 (GRCm39) |
D72G |
probably null |
Het |
Gm5449 |
C |
T |
13: 53,679,787 (GRCm39) |
|
noncoding transcript |
Het |
Gpx7 |
T |
C |
4: 108,258,111 (GRCm39) |
T161A |
probably benign |
Het |
Grip1 |
T |
C |
10: 119,855,982 (GRCm39) |
L236P |
probably damaging |
Het |
H2-Q2 |
G |
T |
17: 35,563,885 (GRCm39) |
R255S |
probably damaging |
Het |
Il17rc |
G |
T |
6: 113,459,997 (GRCm39) |
A648S |
possibly damaging |
Het |
Klhl12 |
A |
G |
1: 134,417,189 (GRCm39) |
E540G |
possibly damaging |
Het |
Mcm10 |
T |
C |
2: 5,012,181 (GRCm39) |
I135V |
probably benign |
Het |
Mrps26 |
C |
A |
2: 130,406,087 (GRCm39) |
T100K |
probably benign |
Het |
Nid2 |
A |
G |
14: 19,829,769 (GRCm39) |
T687A |
probably benign |
Het |
Npas3 |
A |
T |
12: 54,115,619 (GRCm39) |
D829V |
probably damaging |
Het |
Ocln |
T |
C |
13: 100,642,807 (GRCm39) |
D176G |
probably damaging |
Het |
Or11h6 |
A |
G |
14: 50,879,776 (GRCm39) |
|
probably null |
Het |
Pax3 |
A |
C |
1: 78,098,249 (GRCm39) |
M380R |
possibly damaging |
Het |
Pcdha3 |
A |
G |
18: 37,081,208 (GRCm39) |
E650G |
probably damaging |
Het |
Pdcd11 |
C |
A |
19: 47,096,083 (GRCm39) |
H668N |
probably damaging |
Het |
Polr3b |
T |
C |
10: 84,535,264 (GRCm39) |
Y858H |
possibly damaging |
Het |
Pus10 |
T |
C |
11: 23,617,416 (GRCm39) |
|
probably null |
Het |
Raver1 |
T |
C |
9: 20,986,677 (GRCm39) |
D739G |
probably damaging |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Slc26a11 |
T |
C |
11: 119,254,276 (GRCm39) |
L198P |
probably damaging |
Het |
Slc44a3 |
A |
G |
3: 121,303,962 (GRCm39) |
V258A |
probably damaging |
Het |
Socs7 |
T |
A |
11: 97,280,025 (GRCm39) |
I524N |
probably damaging |
Het |
Steap4 |
T |
A |
5: 8,025,547 (GRCm39) |
L36* |
probably null |
Het |
Svep1 |
G |
C |
4: 58,096,183 (GRCm39) |
T1479S |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,547,619 (GRCm39) |
V32184F |
probably damaging |
Het |
Vmn1r22 |
T |
C |
6: 57,877,960 (GRCm39) |
N6D |
possibly damaging |
Het |
|
Other mutations in BC035947 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1853:BC035947
|
UTSW |
1 |
78,475,653 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2079:BC035947
|
UTSW |
1 |
78,488,561 (GRCm39) |
utr 5 prime |
probably benign |
|
R2234:BC035947
|
UTSW |
1 |
78,474,599 (GRCm39) |
missense |
probably damaging |
0.98 |
R2235:BC035947
|
UTSW |
1 |
78,474,599 (GRCm39) |
missense |
probably damaging |
0.98 |
R3840:BC035947
|
UTSW |
1 |
78,474,482 (GRCm39) |
missense |
probably benign |
0.00 |
R3841:BC035947
|
UTSW |
1 |
78,474,482 (GRCm39) |
missense |
probably benign |
0.00 |
R4804:BC035947
|
UTSW |
1 |
78,474,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:BC035947
|
UTSW |
1 |
78,474,666 (GRCm39) |
missense |
probably damaging |
0.99 |
R5139:BC035947
|
UTSW |
1 |
78,475,884 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5669:BC035947
|
UTSW |
1 |
78,474,550 (GRCm39) |
missense |
probably damaging |
0.98 |
R5686:BC035947
|
UTSW |
1 |
78,474,567 (GRCm39) |
missense |
probably benign |
0.03 |
R5868:BC035947
|
UTSW |
1 |
78,474,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R5988:BC035947
|
UTSW |
1 |
78,475,843 (GRCm39) |
nonsense |
probably null |
|
R6787:BC035947
|
UTSW |
1 |
78,475,527 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6854:BC035947
|
UTSW |
1 |
78,475,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R7079:BC035947
|
UTSW |
1 |
78,474,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R7168:BC035947
|
UTSW |
1 |
78,476,230 (GRCm39) |
missense |
probably benign |
0.04 |
R7387:BC035947
|
UTSW |
1 |
78,475,098 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8468:BC035947
|
UTSW |
1 |
78,474,967 (GRCm39) |
missense |
probably damaging |
0.99 |
R8990:BC035947
|
UTSW |
1 |
78,475,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R9192:BC035947
|
UTSW |
1 |
78,475,877 (GRCm39) |
nonsense |
probably null |
|
R9786:BC035947
|
UTSW |
1 |
78,488,561 (GRCm39) |
utr 5 prime |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCGGTCTATCAGATGAACAATGG -3'
(R):5'- GTGAACACTGTCTGACCAGG -3'
Sequencing Primer
(F):5'- ACGAGTGACCAGGGTTCTG -3'
(R):5'- TGTCTGACCAGGCAGACC -3'
|
Posted On |
2016-07-22 |