Incidental Mutation 'IGL03181:BC003331'
| ID |
412243 |
| 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 # |
IGL03181
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
150361305-150393080 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 150363539 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 378
(P378T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006167]
[ENSMUST00000094477]
[ENSMUST00000097546]
[ENSMUST00000097547]
[ENSMUST00000111913]
|
| AlphaFold |
Q4PJX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006167
AA Change: P388T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000006167
Gene: ENSMUSG00000006010
AA Change: P388T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000092050
Gene: ENSMUSG00000006010
| 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: P388T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000095152
Gene: ENSMUSG00000006010
AA Change: P388T
| 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: P378T
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000095153
Gene: ENSMUSG00000006010
AA Change: P378T
| 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: P410T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000107544
Gene: ENSMUSG00000006010
AA Change: P410T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ODR4-like
|
28 |
386 |
7.1e-113 |
PFAM |
|
transmembrane domain
|
424 |
446 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,193,373 (GRCm38) |
V1319A |
possibly damaging |
Het |
| Abcb11 |
T |
A |
2: 69,328,008 (GRCm38) |
|
probably benign |
Het |
| Acss3 |
G |
T |
10: 107,053,388 (GRCm38) |
H190Q |
probably damaging |
Het |
| Adra2b |
C |
T |
2: 127,363,983 (GRCm38) |
T140I |
probably benign |
Het |
| Arl1 |
T |
A |
10: 88,743,059 (GRCm38) |
|
probably benign |
Het |
| Atp4a |
T |
G |
7: 30,724,704 (GRCm38) |
C968G |
probably benign |
Het |
| Clec4n |
T |
C |
6: 123,230,515 (GRCm38) |
C13R |
possibly damaging |
Het |
| Cnot3 |
T |
C |
7: 3,653,248 (GRCm38) |
Y178H |
probably damaging |
Het |
| Col18a1 |
G |
A |
10: 77,055,698 (GRCm38) |
R1560C |
probably damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,142,039 (GRCm38) |
F106S |
probably benign |
Het |
| Dcn |
A |
C |
10: 97,483,452 (GRCm38) |
E30D |
probably damaging |
Het |
| Dennd5a |
A |
T |
7: 109,933,658 (GRCm38) |
F302I |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,215,207 (GRCm38) |
V1501A |
probably damaging |
Het |
| Dnah10 |
C |
T |
5: 124,748,457 (GRCm38) |
P687S |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,068,127 (GRCm38) |
T387A |
probably benign |
Het |
| Dusp7 |
T |
A |
9: 106,373,810 (GRCm38) |
M378K |
probably damaging |
Het |
| Ftmt |
T |
C |
18: 52,331,881 (GRCm38) |
Y90H |
probably damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,828,363 (GRCm38) |
|
probably null |
Het |
| Gm884 |
A |
T |
11: 103,616,416 (GRCm38) |
|
probably benign |
Het |
| Gpatch3 |
T |
C |
4: 133,578,122 (GRCm38) |
F223L |
probably damaging |
Het |
| Gpr158 |
T |
A |
2: 21,783,161 (GRCm38) |
F538I |
probably benign |
Het |
| Gucy2e |
A |
G |
11: 69,230,182 (GRCm38) |
|
probably benign |
Het |
| Hadha |
A |
G |
5: 30,121,526 (GRCm38) |
V566A |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,353,958 (GRCm38) |
S3787C |
possibly damaging |
Het |
| Hnrnpk |
A |
T |
13: 58,394,316 (GRCm38) |
D265E |
possibly damaging |
Het |
| Hspbp1 |
G |
A |
7: 4,684,364 (GRCm38) |
R83W |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,515,937 (GRCm38) |
L758Q |
probably damaging |
Het |
| Ippk |
A |
G |
13: 49,441,987 (GRCm38) |
Y180C |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,111,268 (GRCm38) |
M1620K |
probably benign |
Het |
| Klf7 |
T |
C |
1: 64,035,726 (GRCm38) |
K298R |
possibly damaging |
Het |
| Ktn1 |
A |
T |
14: 47,733,284 (GRCm38) |
T1229S |
probably benign |
Het |
| Lefty2 |
A |
G |
1: 180,897,550 (GRCm38) |
N282D |
probably damaging |
Het |
| Nsd1 |
G |
A |
13: 55,247,045 (GRCm38) |
E820K |
probably damaging |
Het |
| Obsl1 |
C |
A |
1: 75,492,584 (GRCm38) |
A1238S |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,133,242 (GRCm38) |
I391T |
possibly damaging |
Het |
| Ppp1r10 |
G |
T |
17: 35,930,624 (GRCm38) |
G764* |
probably null |
Het |
| Ptpra |
T |
C |
2: 130,517,787 (GRCm38) |
F158L |
probably damaging |
Het |
| Recql |
T |
C |
6: 142,378,192 (GRCm38) |
S59G |
probably benign |
Het |
| Rrp1b |
A |
T |
17: 32,057,176 (GRCm38) |
I566F |
probably benign |
Het |
| Sh3yl1 |
G |
A |
12: 30,941,980 (GRCm38) |
D145N |
possibly damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,585,185 (GRCm38) |
I52N |
probably damaging |
Het |
| Slc51b |
A |
G |
9: 65,415,165 (GRCm38) |
|
probably null |
Het |
| Smpd4 |
C |
T |
16: 17,625,807 (GRCm38) |
Q72* |
probably null |
Het |
| Spata6 |
A |
G |
4: 111,822,766 (GRCm38) |
D391G |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,967,306 (GRCm38) |
D1853V |
possibly damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 85,062,714 (GRCm38) |
T333I |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,531,945 (GRCm38) |
I813N |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,009,250 (GRCm38) |
H677Q |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,591,019 (GRCm38) |
Y1064H |
probably damaging |
Het |
| Wdr82 |
T |
A |
9: 106,186,415 (GRCm38) |
I272K |
probably benign |
Het |
| Zc3h12a |
T |
C |
4: 125,119,304 (GRCm38) |
Y589C |
probably damaging |
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 |
|
|
IGL03124:BC003331
|
APN |
1 |
150,386,425 (GRCm38) |
missense |
probably benign |
0.00 |
|
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