Incidental Mutation 'IGL03124:BC003331'
| ID |
410095 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
BC003331
|
| Ensembl Gene |
ENSMUSG00000006010 |
| Gene Name |
cDNA sequence BC003331 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.749)
|
| Stock # |
IGL03124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
150361305-150393080 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150386425 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 88
(V88A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006167]
[ENSMUST00000094477]
[ENSMUST00000097546]
[ENSMUST00000097547]
[ENSMUST00000111913]
|
| AlphaFold |
Q4PJX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006167
AA Change: V88A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000006167
Gene: ENSMUSG00000006010
AA Change: V88A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ODR4-like
|
28 |
364 |
1.8e-107 |
PFAM |
|
transmembrane domain
|
402 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094477
AA Change: V88A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000092050
Gene: ENSMUSG00000006010
AA Change: V88A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ODR4-like
|
28 |
383 |
2.8e-120 |
PFAM |
|
transmembrane domain
|
424 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097546
AA Change: V88A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095152
Gene: ENSMUSG00000006010
AA Change: V88A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ODR4-like
|
28 |
364 |
1.8e-107 |
PFAM |
|
transmembrane domain
|
402 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097547
AA Change: V88A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095153
Gene: ENSMUSG00000006010
AA Change: V88A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ODR4-like
|
28 |
209 |
1.2e-57 |
PFAM |
|
Pfam:ODR4-like
|
206 |
354 |
3.1e-43 |
PFAM |
|
transmembrane domain
|
392 |
414 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111913
AA Change: V88A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107544
Gene: ENSMUSG00000006010
AA Change: V88A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ODR4-like
|
28 |
386 |
7.1e-113 |
PFAM |
|
transmembrane domain
|
424 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150615
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110017D15Rik |
T |
C |
4: 41,507,287 (GRCm38) |
N170D |
possibly damaging |
Het |
| 1700018B08Rik |
C |
A |
8: 121,541,710 (GRCm38) |
|
probably benign |
Het |
| 4931414P19Rik |
A |
G |
14: 54,595,139 (GRCm38) |
V193A |
probably benign |
Het |
| Acap3 |
T |
C |
4: 155,905,033 (GRCm38) |
S645P |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,678,419 (GRCm38) |
I3316V |
probably benign |
Het |
| Apc |
T |
G |
18: 34,299,985 (GRCm38) |
H424Q |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,274,799 (GRCm38) |
|
probably null |
Het |
| Car13 |
C |
T |
3: 14,656,940 (GRCm38) |
P182L |
possibly damaging |
Het |
| Ccdc87 |
T |
G |
19: 4,841,054 (GRCm38) |
S525A |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 93,275,384 (GRCm38) |
N39D |
probably benign |
Het |
| Cyp2j13 |
C |
A |
4: 96,061,922 (GRCm38) |
A281S |
possibly damaging |
Het |
| Cyp4f15 |
G |
A |
17: 32,685,812 (GRCm38) |
|
probably null |
Het |
| Fam208b |
A |
T |
13: 3,574,704 (GRCm38) |
Y1749N |
probably benign |
Het |
| Fat4 |
C |
A |
3: 38,981,552 (GRCm38) |
R3118S |
possibly damaging |
Het |
| Glg1 |
C |
T |
8: 111,200,171 (GRCm38) |
V171M |
probably damaging |
Het |
| Hivep1 |
G |
T |
13: 42,158,904 (GRCm38) |
G1540V |
possibly damaging |
Het |
| Ighm |
T |
C |
12: 113,421,638 (GRCm38) |
D234G |
unknown |
Het |
| Igsf10 |
T |
C |
3: 59,319,665 (GRCm38) |
T2196A |
probably benign |
Het |
| Kctd19 |
T |
A |
8: 105,387,070 (GRCm38) |
Q657L |
possibly damaging |
Het |
| Klhl40 |
T |
A |
9: 121,780,685 (GRCm38) |
I512N |
probably damaging |
Het |
| Lima1 |
A |
T |
15: 99,796,734 (GRCm38) |
|
probably benign |
Het |
| Map2k4 |
A |
C |
11: 65,690,791 (GRCm38) |
I365S |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,738,245 (GRCm38) |
K1346N |
probably damaging |
Het |
| Met |
T |
A |
6: 17,492,078 (GRCm38) |
F280I |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,671,209 (GRCm38) |
T101A |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,996,440 (GRCm38) |
F605L |
probably benign |
Het |
| Olfr291 |
T |
A |
7: 84,856,723 (GRCm38) |
M118K |
probably damaging |
Het |
| Olfr639 |
G |
T |
7: 104,011,794 (GRCm38) |
Q303K |
probably benign |
Het |
| Olfr873 |
T |
A |
9: 20,301,163 (GRCm38) |
M322K |
probably benign |
Het |
| Pck2 |
C |
T |
14: 55,545,333 (GRCm38) |
T373I |
probably damaging |
Het |
| Pcna |
C |
T |
2: 132,251,753 (GRCm38) |
E109K |
probably benign |
Het |
| Pecr |
A |
C |
1: 72,277,340 (GRCm38) |
S69A |
probably benign |
Het |
| Pitpnb |
A |
G |
5: 111,330,830 (GRCm38) |
E6G |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,065,745 (GRCm38) |
T436I |
probably benign |
Het |
| Plbd2 |
A |
T |
5: 120,493,077 (GRCm38) |
F212I |
possibly damaging |
Het |
| Rfk |
T |
A |
19: 17,398,595 (GRCm38) |
H84Q |
possibly damaging |
Het |
| Scp2 |
T |
A |
4: 108,063,906 (GRCm38) |
I36F |
probably damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,580,735 (GRCm38) |
T74A |
probably damaging |
Het |
| St6galnac1 |
G |
A |
11: 116,775,299 (GRCm38) |
A35V |
probably benign |
Het |
| Tmem8 |
G |
A |
17: 26,116,834 (GRCm38) |
R65Q |
probably damaging |
Het |
| Trav17 |
T |
C |
14: 53,806,649 (GRCm38) |
V4A |
probably benign |
Het |
| Vmn1r57 |
A |
T |
7: 5,221,022 (GRCm38) |
H182L |
possibly damaging |
Het |
| Vwa8 |
A |
T |
14: 79,058,815 (GRCm38) |
|
probably benign |
Het |
| Zgpat |
A |
G |
2: 181,366,180 (GRCm38) |
Y170C |
probably benign |
Het |
|
| Other mutations in BC003331 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01876:BC003331
|
APN |
1 |
150,382,338 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02189:BC003331
|
APN |
1 |
150,372,033 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02257:BC003331
|
APN |
1 |
150,386,404 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02485:BC003331
|
APN |
1 |
150,363,489 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02585:BC003331
|
APN |
1 |
150,363,521 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02712:BC003331
|
APN |
1 |
150,386,356 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02902:BC003331
|
APN |
1 |
150,384,428 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03014:BC003331
|
APN |
1 |
150,383,053 (GRCm38) |
splice site |
probably benign |
|
|
IGL03181:BC003331
|
APN |
1 |
150,363,539 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03344:BC003331
|
APN |
1 |
150,363,544 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1170:BC003331
|
UTSW |
1 |
150,386,391 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1796:BC003331
|
UTSW |
1 |
150,375,554 (GRCm38) |
missense |
probably benign |
|
|
R1902:BC003331
|
UTSW |
1 |
150,388,609 (GRCm38) |
splice site |
probably null |
|
|
R2149:BC003331
|
UTSW |
1 |
150,388,559 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2155:BC003331
|
UTSW |
1 |
150,382,335 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R2375:BC003331
|
UTSW |
1 |
150,390,234 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3786:BC003331
|
UTSW |
1 |
150,384,531 (GRCm38) |
missense |
probably benign |
0.21 |
|
R3948:BC003331
|
UTSW |
1 |
150,388,557 (GRCm38) |
nonsense |
probably null |
|
|
R4589:BC003331
|
UTSW |
1 |
150,384,487 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4590:BC003331
|
UTSW |
1 |
150,386,352 (GRCm38) |
splice site |
probably null |
|
|
R4815:BC003331
|
UTSW |
1 |
150,374,846 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5196:BC003331
|
UTSW |
1 |
150,382,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5437:BC003331
|
UTSW |
1 |
150,363,518 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5549:BC003331
|
UTSW |
1 |
150,372,158 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5677:BC003331
|
UTSW |
1 |
150,374,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5896:BC003331
|
UTSW |
1 |
150,380,360 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6472:BC003331
|
UTSW |
1 |
150,381,522 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7108:BC003331
|
UTSW |
1 |
150,382,290 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7402:BC003331
|
UTSW |
1 |
150,386,356 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7662:BC003331
|
UTSW |
1 |
150,382,294 (GRCm38) |
missense |
probably benign |
|
|
R7767:BC003331
|
UTSW |
1 |
150,372,037 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7810:BC003331
|
UTSW |
1 |
150,392,908 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R7916:BC003331
|
UTSW |
1 |
150,384,498 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8114:BC003331
|
UTSW |
1 |
150,388,557 (GRCm38) |
nonsense |
probably null |
|
|
R8120:BC003331
|
UTSW |
1 |
150,384,426 (GRCm38) |
splice site |
probably null |
|
|
R8435:BC003331
|
UTSW |
1 |
150,382,269 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9397:BC003331
|
UTSW |
1 |
150,362,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation