Incidental Mutation 'R8340:BC024139'
| ID |
644859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC024139
|
| Ensembl Gene |
ENSMUSG00000044361 |
| Gene Name |
cDNA sequence BC024139 |
| Synonyms |
6230424I18Rik |
| MMRRC Submission |
067864-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8340 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76003717-76010756 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76005670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 484
(V484A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054022]
[ENSMUST00000089654]
[ENSMUST00000146157]
[ENSMUST00000226781]
|
| AlphaFold |
Q8BVJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054022
AA Change: V484A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000053305
Gene: ENSMUSG00000044361
AA Change: V484A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
79 |
N/A |
INTRINSIC |
|
SPEC
|
91 |
177 |
8.82e-1 |
SMART |
|
SPEC
|
184 |
283 |
2.74e-2 |
SMART |
|
coiled coil region
|
314 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
485 |
N/A |
INTRINSIC |
|
Pfam:GAS2
|
672 |
701 |
3.9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089654
AA Change: V484A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000087082
Gene: ENSMUSG00000044361
AA Change: V484A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
79 |
N/A |
INTRINSIC |
|
SPEC
|
91 |
177 |
8.82e-1 |
SMART |
|
SPEC
|
184 |
283 |
2.74e-2 |
SMART |
|
coiled coil region
|
314 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
485 |
N/A |
INTRINSIC |
|
Pfam:GAS2
|
671 |
703 |
3.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146157
AA Change: V484A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000117783
Gene: ENSMUSG00000044361
AA Change: V484A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
79 |
N/A |
INTRINSIC |
|
SPEC
|
91 |
177 |
8.82e-1 |
SMART |
|
SPEC
|
184 |
283 |
2.74e-2 |
SMART |
|
coiled coil region
|
314 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226781
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
C |
T |
7: 81,435,839 (GRCm39) |
V91M |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,044,435 (GRCm39) |
V57A |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,184,112 (GRCm39) |
Y392C |
probably damaging |
Het |
| Armc6 |
T |
G |
8: 70,673,502 (GRCm39) |
N407T |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,202,476 (GRCm39) |
V716A |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,670,013 (GRCm39) |
E550G |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,070,297 (GRCm39) |
S512P |
possibly damaging |
Het |
| Chac2 |
C |
G |
11: 30,927,511 (GRCm39) |
G136A |
probably damaging |
Het |
| Crhr2 |
C |
T |
6: 55,079,831 (GRCm39) |
V170M |
probably damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,060,831 (GRCm39) |
D104V |
possibly damaging |
Het |
| Dhtkd1 |
T |
A |
2: 5,924,408 (GRCm39) |
S402C |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,876,856 (GRCm39) |
I4099V |
unknown |
Het |
| Etv3 |
A |
G |
3: 87,443,856 (GRCm39) |
D480G |
possibly damaging |
Het |
| Fam186b |
A |
T |
15: 99,177,595 (GRCm39) |
I577K |
probably benign |
Het |
| Foxe1 |
T |
C |
4: 46,344,437 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Gsdma |
T |
A |
11: 98,557,421 (GRCm39) |
V120E |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,234,946 (GRCm39) |
S153R |
probably damaging |
Het |
| Isx |
T |
A |
8: 75,616,688 (GRCm39) |
I105N |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,042,257 (GRCm39) |
E3D |
probably benign |
Het |
| Mkln1 |
G |
T |
6: 31,409,878 (GRCm39) |
R172L |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,192,705 (GRCm39) |
S605T |
probably benign |
Het |
| Nell1 |
T |
A |
7: 49,870,021 (GRCm39) |
D232E |
probably damaging |
Het |
| Nemf |
T |
G |
12: 69,400,659 (GRCm39) |
T139P |
possibly damaging |
Het |
| Nrdc |
A |
C |
4: 108,858,351 (GRCm39) |
K108Q |
probably damaging |
Het |
| Or10c1 |
G |
T |
17: 37,522,075 (GRCm39) |
T223N |
possibly damaging |
Het |
| Or14j3 |
T |
C |
17: 37,901,034 (GRCm39) |
D70G |
probably damaging |
Het |
| Or3a10 |
G |
T |
11: 73,935,851 (GRCm39) |
P83Q |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,613,851 (GRCm39) |
S599P |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,130 (GRCm39) |
N224S |
probably benign |
Het |
| Poln |
A |
G |
5: 34,307,118 (GRCm39) |
S28P |
probably damaging |
Het |
| Prr36 |
A |
G |
8: 4,264,224 (GRCm39) |
S481P |
unknown |
Het |
| Scrn1 |
G |
A |
6: 54,511,518 (GRCm39) |
A74V |
possibly damaging |
Het |
| Slc22a22 |
T |
A |
15: 57,127,086 (GRCm39) |
|
probably null |
Het |
| Srpra |
A |
G |
9: 35,127,102 (GRCm39) |
D592G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,926,036 (GRCm39) |
N915D |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,759,458 (GRCm39) |
K1109* |
probably null |
Het |
| Tsks |
C |
T |
7: 44,602,144 (GRCm39) |
R287W |
probably damaging |
Het |
| Ush1c |
T |
G |
7: 45,860,630 (GRCm39) |
M456L |
probably benign |
Het |
| Usp38 |
A |
G |
8: 81,712,031 (GRCm39) |
V668A |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,679,511 (GRCm39) |
Q571L |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,322,006 (GRCm39) |
D230E |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,829,972 (GRCm39) |
G60S |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,217,036 (GRCm39) |
D456G |
probably benign |
Het |
| Zfp738 |
A |
C |
13: 67,819,231 (GRCm39) |
H253Q |
probably damaging |
Het |
|
| Other mutations in BC024139 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:BC024139
|
APN |
15 |
76,009,300 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01684:BC024139
|
APN |
15 |
76,008,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01780:BC024139
|
APN |
15 |
76,005,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03084:BC024139
|
APN |
15 |
76,004,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03242:BC024139
|
APN |
15 |
76,004,520 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03386:BC024139
|
APN |
15 |
76,005,945 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0018:BC024139
|
UTSW |
15 |
76,005,087 (GRCm39) |
nonsense |
probably null |
|
|
R0018:BC024139
|
UTSW |
15 |
76,005,087 (GRCm39) |
nonsense |
probably null |
|
|
R0153:BC024139
|
UTSW |
15 |
76,005,947 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0789:BC024139
|
UTSW |
15 |
76,005,283 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1158:BC024139
|
UTSW |
15 |
76,004,542 (GRCm39) |
unclassified |
probably benign |
|
|
R1515:BC024139
|
UTSW |
15 |
76,008,526 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1840:BC024139
|
UTSW |
15 |
76,004,842 (GRCm39) |
missense |
probably benign |
|
|
R1845:BC024139
|
UTSW |
15 |
76,009,461 (GRCm39) |
nonsense |
probably null |
|
|
R2159:BC024139
|
UTSW |
15 |
76,005,688 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2264:BC024139
|
UTSW |
15 |
76,010,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:BC024139
|
UTSW |
15 |
76,005,939 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2697:BC024139
|
UTSW |
15 |
76,004,393 (GRCm39) |
unclassified |
probably benign |
|
|
R4113:BC024139
|
UTSW |
15 |
76,005,827 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4630:BC024139
|
UTSW |
15 |
76,009,294 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4825:BC024139
|
UTSW |
15 |
76,004,517 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4865:BC024139
|
UTSW |
15 |
76,010,266 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5208:BC024139
|
UTSW |
15 |
76,008,865 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5369:BC024139
|
UTSW |
15 |
76,004,422 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5371:BC024139
|
UTSW |
15 |
76,004,886 (GRCm39) |
makesense |
probably null |
|
|
R5897:BC024139
|
UTSW |
15 |
76,010,339 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6110:BC024139
|
UTSW |
15 |
76,003,996 (GRCm39) |
missense |
probably benign |
|
|
R6374:BC024139
|
UTSW |
15 |
76,004,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6823:BC024139
|
UTSW |
15 |
76,003,946 (GRCm39) |
makesense |
probably null |
|
|
R6915:BC024139
|
UTSW |
15 |
76,004,221 (GRCm39) |
missense |
probably benign |
|
|
R7075:BC024139
|
UTSW |
15 |
76,008,599 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7669:BC024139
|
UTSW |
15 |
76,004,768 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8355:BC024139
|
UTSW |
15 |
76,004,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8455:BC024139
|
UTSW |
15 |
76,004,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8481:BC024139
|
UTSW |
15 |
76,004,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8507:BC024139
|
UTSW |
15 |
76,004,333 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8804:BC024139
|
UTSW |
15 |
76,008,284 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8876:BC024139
|
UTSW |
15 |
76,010,320 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9213:BC024139
|
UTSW |
15 |
76,009,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9542:BC024139
|
UTSW |
15 |
76,009,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9555:BC024139
|
UTSW |
15 |
76,005,359 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
X0066:BC024139
|
UTSW |
15 |
76,008,202 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCAGCACCTCCAAATGGTC -3'
(R):5'- GAGAGGAGCTGCTGACTATG -3'
Sequencing Primer
(F):5'- CCTCCAAATGGTCTTACAGAGGGTG -3'
(R):5'- TGCTGACTATGGGAGCACCTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation