Incidental Mutation 'R0018:BC024139'
| ID |
64955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC024139
|
| Ensembl Gene |
ENSMUSG00000044361 |
| Gene Name |
cDNA sequence BC024139 |
| Synonyms |
6230424I18Rik |
| MMRRC Submission |
038313-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R0018 (G1)
|
| Quality Score |
127 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76003717-76010756 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 76005087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 592
(Q592*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054022]
[ENSMUST00000089654]
[ENSMUST00000146157]
[ENSMUST00000226781]
|
| AlphaFold |
Q8BVJ3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054022
AA Change: Q592*
|
| SMART Domains |
Protein: ENSMUSP00000053305
Gene: ENSMUSG00000044361
AA Change: Q592*
| 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 null
Transcript: ENSMUST00000089654
AA Change: Q592*
|
| SMART Domains |
Protein: ENSMUSP00000087082
Gene: ENSMUSG00000044361
AA Change: Q592*
| 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 null
Transcript: ENSMUST00000146157
AA Change: Q592*
|
| SMART Domains |
Protein: ENSMUSP00000117783
Gene: ENSMUSG00000044361
AA Change: Q592*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,532,162 (GRCm39) |
|
probably null |
Het |
| Afp |
A |
C |
5: 90,654,600 (GRCm39) |
Q546P |
probably damaging |
Het |
| Api5 |
A |
T |
2: 94,251,329 (GRCm39) |
|
probably null |
Het |
| Atp2b4 |
T |
A |
1: 133,645,609 (GRCm39) |
I982F |
probably damaging |
Het |
| Capn7 |
T |
A |
14: 31,076,069 (GRCm39) |
C290* |
probably null |
Het |
| Ccn1 |
A |
G |
3: 145,355,186 (GRCm39) |
L23P |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,915,243 (GRCm39) |
D910V |
possibly damaging |
Het |
| Chga |
T |
C |
12: 102,524,764 (GRCm39) |
S45P |
probably damaging |
Het |
| Cpne2 |
T |
A |
8: 95,282,681 (GRCm39) |
C59S |
possibly damaging |
Het |
| Cyp2b13 |
G |
A |
7: 25,785,375 (GRCm39) |
R248H |
probably benign |
Het |
| Dennd1a |
T |
A |
2: 37,748,472 (GRCm39) |
T336S |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,800,862 (GRCm39) |
Y628C |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,029,464 (GRCm39) |
V542A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,326,096 (GRCm39) |
S820C |
unknown |
Het |
| Efcab3 |
G |
A |
11: 104,612,378 (GRCm39) |
|
probably null |
Het |
| Eif5b |
T |
C |
1: 38,057,970 (GRCm39) |
S91P |
unknown |
Het |
| Epop |
A |
G |
11: 97,519,017 (GRCm39) |
V364A |
probably benign |
Het |
| Ext2 |
G |
A |
2: 93,626,037 (GRCm39) |
P341L |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,724 (GRCm39) |
T429A |
probably benign |
Het |
| Gsx2 |
A |
G |
5: 75,237,828 (GRCm39) |
K260R |
probably damaging |
Het |
| H2-M10.6 |
A |
C |
17: 37,124,941 (GRCm39) |
H286P |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,392,242 (GRCm39) |
N169D |
possibly damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,528,302 (GRCm39) |
D3282G |
probably benign |
Het |
| Hnmt |
T |
A |
2: 23,893,640 (GRCm39) |
N285Y |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,795,717 (GRCm39) |
R450G |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,419,289 (GRCm39) |
D684G |
possibly damaging |
Het |
| Kif27 |
T |
G |
13: 58,435,867 (GRCm39) |
I1309L |
probably benign |
Het |
| Mab21l4 |
T |
A |
1: 93,082,327 (GRCm39) |
D264V |
probably benign |
Het |
| Man2b1 |
T |
A |
8: 85,824,118 (GRCm39) |
V1005E |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,924,923 (GRCm39) |
F265I |
possibly damaging |
Het |
| Myo9a |
A |
T |
9: 59,779,007 (GRCm39) |
T1588S |
probably benign |
Het |
| Neu4 |
T |
A |
1: 93,953,060 (GRCm39) |
D476E |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,071,423 (GRCm39) |
Q895L |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,452 (GRCm39) |
I289V |
probably damaging |
Het |
| Or1p1c |
A |
C |
11: 74,160,934 (GRCm39) |
T240P |
probably benign |
Het |
| Pdzd8 |
C |
T |
19: 59,289,105 (GRCm39) |
R765H |
probably damaging |
Het |
| Plk1 |
T |
C |
7: 121,768,208 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,678,647 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,544,406 (GRCm39) |
Y1799H |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,082,951 (GRCm39) |
|
probably benign |
Het |
| Ptchd3 |
A |
C |
11: 121,733,170 (GRCm39) |
I687L |
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,604,845 (GRCm39) |
|
probably null |
Het |
| Pus3 |
A |
G |
9: 35,477,920 (GRCm39) |
D384G |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,358,354 (GRCm39) |
P181S |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,454,016 (GRCm39) |
S307P |
probably damaging |
Het |
| Rbpms2 |
A |
G |
9: 65,558,360 (GRCm39) |
D142G |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,130,369 (GRCm39) |
D2647E |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,610,109 (GRCm39) |
T4239I |
possibly damaging |
Het |
| Sctr |
C |
A |
1: 119,971,286 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
A |
T |
13: 34,021,828 (GRCm39) |
Y167N |
probably damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,157,301 (GRCm39) |
I31V |
probably benign |
Het |
| Slc15a4 |
A |
T |
5: 127,679,074 (GRCm39) |
I422N |
probably damaging |
Het |
| Stk24 |
G |
A |
14: 121,545,419 (GRCm39) |
|
probably benign |
Het |
| Vmn1r213 |
T |
A |
13: 23,196,311 (GRCm39) |
V298D |
probably damaging |
Het |
| Xdh |
C |
T |
17: 74,232,020 (GRCm39) |
R230H |
probably benign |
Het |
| Zfp418 |
A |
T |
7: 7,185,449 (GRCm39) |
S471C |
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 |
|
|
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 |
|
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'- TGGCTTCGGGTACAAAGCACAC -3'
(R):5'- GCCCACAGCTTGTTAGAGGAGATG -3'
Sequencing Primer
(F):5'- ACCCCAGACCACTTTATTTTATGAC -3'
(R):5'- ATGAGTCTTGACCAGGAGCC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation