Incidental Mutation 'R8355:BC024139'
| ID |
645741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC024139
|
| Ensembl Gene |
ENSMUSG00000044361 |
| Gene Name |
cDNA sequence BC024139 |
| Synonyms |
6230424I18Rik |
| MMRRC Submission |
067869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8355 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76003717-76010756 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76004007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 753
(D753G)
|
| 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: D753G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000053305
Gene: ENSMUSG00000044361
AA Change: D753G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,567 (GRCm39) |
C398* |
probably null |
Het |
| Amy2a1 |
T |
A |
3: 113,324,045 (GRCm39) |
D165V |
probably benign |
Het |
| Atf6b |
A |
G |
17: 34,867,197 (GRCm39) |
D63G |
probably benign |
Het |
| Dnah3 |
T |
G |
7: 119,551,431 (GRCm39) |
T2963P |
probably damaging |
Het |
| Fanci |
G |
T |
7: 79,085,029 (GRCm39) |
L818F |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gm4559 |
C |
A |
7: 141,827,694 (GRCm39) |
C136F |
unknown |
Het |
| Gm45844 |
G |
A |
7: 7,281,221 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
T |
A |
5: 25,559,499 (GRCm39) |
|
probably null |
Het |
| Lpo |
G |
A |
11: 87,705,114 (GRCm39) |
L407F |
probably damaging |
Het |
| Mus81 |
T |
C |
19: 5,534,220 (GRCm39) |
Y366C |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,364,528 (GRCm39) |
D1292G |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,132,800 (GRCm39) |
I309N |
probably damaging |
Het |
| Nufip2 |
C |
T |
11: 77,583,259 (GRCm39) |
T391I |
probably damaging |
Het |
| Or5g25 |
T |
A |
2: 85,478,485 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,211,715 (GRCm39) |
Y74C |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,224,069 (GRCm39) |
V935E |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,422,846 (GRCm39) |
I994M |
probably benign |
Het |
| Sgcz |
T |
C |
8: 38,190,239 (GRCm39) |
I96V |
probably benign |
Het |
| Tmem108 |
A |
G |
9: 103,377,069 (GRCm39) |
S127P |
possibly damaging |
Het |
| Tmem178b |
G |
A |
6: 40,231,869 (GRCm39) |
V168I |
unknown |
Het |
| Tut1 |
T |
C |
19: 8,936,626 (GRCm39) |
V150A |
probably benign |
Het |
| Txnl4a |
T |
A |
18: 80,250,539 (GRCm39) |
L45Q |
probably damaging |
Het |
| V1ra8 |
C |
T |
6: 90,180,447 (GRCm39) |
R217W |
probably damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,352 (GRCm39) |
T255A |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,259,848 (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 |
|
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 |
|
R8340:BC024139
|
UTSW |
15 |
76,005,670 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- CCTCTTTATTGCTGAGAGTGAGAG -3'
(R):5'- TCAGAGCTAGGTCCTCCTGATG -3'
Sequencing Primer
(F):5'- ATTTCTGAGTTCGAGGCCAGCC -3'
(R):5'- ATGCTAGGTCCTCCTGATGCTAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation