Incidental Mutation 'R1158:BC024139'
| ID |
101914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC024139
|
| Ensembl Gene |
ENSMUSG00000044361 |
| Gene Name |
cDNA sequence BC024139 |
| Synonyms |
6230424I18Rik |
| MMRRC Submission |
039231-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1158 (G1)
|
| Quality Score |
214 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76003717-76010756 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 76004542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054022]
[ENSMUST00000089654]
[ENSMUST00000146157]
[ENSMUST00000226781]
|
| AlphaFold |
Q8BVJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054022
|
| SMART Domains |
Protein: ENSMUSP00000053305
Gene: ENSMUSG00000044361
| 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
|
| SMART Domains |
Protein: ENSMUSP00000087082
Gene: ENSMUSG00000044361
| 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 |
noncoding transcript
Transcript: ENSMUST00000126892
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146157
|
| SMART Domains |
Protein: ENSMUSP00000117783
Gene: ENSMUSG00000044361
| 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 |
noncoding transcript
Transcript: ENSMUST00000226663
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226781
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
T |
C |
9: 59,217,566 (GRCm39) |
V193A |
possibly damaging |
Het |
| Ahnak |
A |
C |
19: 8,991,290 (GRCm39) |
E4191D |
probably benign |
Het |
| Bpifb9a |
T |
G |
2: 154,104,184 (GRCm39) |
I209S |
probably benign |
Het |
| Bst1 |
T |
G |
5: 43,997,834 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Carf |
A |
G |
1: 60,186,998 (GRCm39) |
K499E |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,024,199 (GRCm39) |
E147G |
probably damaging |
Het |
| Cd8a |
T |
A |
6: 71,350,712 (GRCm39) |
V59D |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,214 (GRCm39) |
T301A |
probably benign |
Het |
| Cog5 |
G |
A |
12: 31,920,056 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,156,170 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,367,609 (GRCm39) |
S31P |
probably damaging |
Het |
| Eif1ad9 |
A |
T |
12: 88,296,438 (GRCm39) |
I139F |
unknown |
Het |
| Epb41 |
T |
C |
4: 131,727,502 (GRCm39) |
|
probably benign |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,250 (GRCm39) |
F94L |
probably benign |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,847,390 (GRCm39) |
K375R |
possibly damaging |
Het |
| Inhbe |
G |
A |
10: 127,187,186 (GRCm39) |
R77W |
probably damaging |
Het |
| Itgb8 |
T |
C |
12: 119,166,231 (GRCm39) |
E100G |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,248,472 (GRCm39) |
V44A |
possibly damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,827 (GRCm39) |
V315A |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,567,506 (GRCm39) |
T305S |
unknown |
Het |
| Map3k2 |
A |
G |
18: 32,350,211 (GRCm39) |
T354A |
probably benign |
Het |
| Mmp16 |
T |
C |
4: 17,987,726 (GRCm39) |
|
probably null |
Het |
| Mphosph10 |
T |
C |
7: 64,038,607 (GRCm39) |
|
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,385 (GRCm39) |
S274P |
probably damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,614 (GRCm39) |
C144S |
probably damaging |
Het |
| Or4c52 |
T |
A |
2: 89,845,598 (GRCm39) |
I108N |
possibly damaging |
Het |
| Or4k47 |
T |
C |
2: 111,452,086 (GRCm39) |
E111G |
probably damaging |
Het |
| Or5p52 |
G |
A |
7: 107,502,130 (GRCm39) |
V69I |
possibly damaging |
Het |
| Slc43a3 |
C |
A |
2: 84,768,140 (GRCm39) |
F37L |
probably benign |
Het |
| Slf2 |
G |
T |
19: 44,919,855 (GRCm39) |
A36S |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,132,598 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
A |
C |
1: 130,117,672 (GRCm39) |
|
probably null |
Het |
| Tnfrsf18 |
A |
C |
4: 156,112,739 (GRCm39) |
I142L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,632,855 (GRCm39) |
|
probably benign |
Het |
| Tufm |
T |
A |
7: 126,088,614 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
A |
T |
7: 85,059,058 (GRCm39) |
|
probably benign |
Het |
| Zfp385c |
T |
C |
11: 100,520,709 (GRCm39) |
|
probably benign |
Het |
| Zfp964 |
T |
A |
8: 70,116,503 (GRCm39) |
C368S |
unknown |
Het |
| Zswim8 |
G |
A |
14: 20,771,736 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R8340:BC024139
|
UTSW |
15 |
76,005,670 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation