Incidental Mutation 'IGL02687:BC051019'
ID |
303617 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
BC051019
|
Ensembl Gene |
ENSMUSG00000031022 |
Gene Name |
cDNA sequence BC051019 |
Synonyms |
D7H11orf16, ICRFP703N2430Q5.5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
IGL02687
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
109311388-109323057 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109315559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 84
(D84G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115006
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033334]
[ENSMUST00000033335]
[ENSMUST00000106735]
[ENSMUST00000145211]
|
AlphaFold |
Q9JJR6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033334
AA Change: D232G
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000033334 Gene: ENSMUSG00000031022 AA Change: D232G
Domain | Start | End | E-Value | Type |
Pfam:DUF4537
|
85 |
225 |
1.1e-41 |
PFAM |
low complexity region
|
258 |
284 |
N/A |
INTRINSIC |
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000033335
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106735
AA Change: D232G
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102346 Gene: ENSMUSG00000031022 AA Change: D232G
Domain | Start | End | E-Value | Type |
Pfam:DUF4537
|
85 |
225 |
6.3e-44 |
PFAM |
low complexity region
|
258 |
284 |
N/A |
INTRINSIC |
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145211
AA Change: D84G
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115006 Gene: ENSMUSG00000031022 AA Change: D84G
Domain | Start | End | E-Value | Type |
Pfam:DUF4537
|
24 |
77 |
8.3e-12 |
PFAM |
low complexity region
|
110 |
136 |
N/A |
INTRINSIC |
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147497
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,005,058 (GRCm39) |
V1315A |
probably damaging |
Het |
Adam2 |
A |
T |
14: 66,306,639 (GRCm39) |
C117S |
probably damaging |
Het |
Arpp21 |
T |
A |
9: 111,894,883 (GRCm39) |
R792* |
probably null |
Het |
Atp13a3 |
A |
G |
16: 30,156,369 (GRCm39) |
M938T |
probably damaging |
Het |
Atp6v0a2 |
C |
T |
5: 124,791,206 (GRCm39) |
T545M |
possibly damaging |
Het |
Bdkrb1 |
T |
A |
12: 105,571,091 (GRCm39) |
L219H |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cfap46 |
T |
C |
7: 139,187,117 (GRCm39) |
D2415G |
probably damaging |
Het |
Csgalnact2 |
T |
C |
6: 118,101,376 (GRCm39) |
|
probably null |
Het |
Cyp4a29 |
T |
C |
4: 115,108,397 (GRCm39) |
C374R |
probably damaging |
Het |
Dgkb |
C |
A |
12: 38,680,628 (GRCm39) |
P776Q |
possibly damaging |
Het |
Duox1 |
A |
T |
2: 122,166,896 (GRCm39) |
K1005M |
probably damaging |
Het |
Dusp6 |
C |
A |
10: 99,102,044 (GRCm39) |
F343L |
probably damaging |
Het |
Espl1 |
C |
T |
15: 102,221,613 (GRCm39) |
|
probably benign |
Het |
Filip1l |
T |
C |
16: 57,391,490 (GRCm39) |
S455P |
probably benign |
Het |
Gm7995 |
A |
G |
14: 42,133,362 (GRCm39) |
I81V |
probably damaging |
Het |
Lingo4 |
T |
C |
3: 94,309,404 (GRCm39) |
L114P |
probably damaging |
Het |
Mfsd6 |
A |
G |
1: 52,747,834 (GRCm39) |
S344P |
probably damaging |
Het |
Mpc1 |
G |
A |
17: 8,515,975 (GRCm39) |
S162N |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,030,482 (GRCm39) |
K1143* |
probably null |
Het |
Nek10 |
T |
C |
14: 14,840,570 (GRCm38) |
L152P |
probably damaging |
Het |
Or52ab7 |
C |
T |
7: 102,978,607 (GRCm39) |
R305* |
probably null |
Het |
Or5ak25 |
T |
A |
2: 85,268,930 (GRCm39) |
N191Y |
possibly damaging |
Het |
Or6c217 |
T |
C |
10: 129,737,971 (GRCm39) |
M203V |
probably benign |
Het |
Rab11a |
A |
G |
9: 64,633,980 (GRCm39) |
I119T |
probably damaging |
Het |
Spata31d1d |
T |
A |
13: 59,875,678 (GRCm39) |
H619L |
possibly damaging |
Het |
Ulk4 |
A |
T |
9: 121,021,728 (GRCm39) |
V661E |
possibly damaging |
Het |
Vmn1r199 |
T |
C |
13: 22,566,961 (GRCm39) |
V85A |
possibly damaging |
Het |
|
Other mutations in BC051019 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00922:BC051019
|
APN |
7 |
109,319,883 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02970:BC051019
|
APN |
7 |
109,315,262 (GRCm39) |
missense |
probably benign |
0.03 |
R0494:BC051019
|
UTSW |
7 |
109,317,182 (GRCm39) |
missense |
probably benign |
0.29 |
R0755:BC051019
|
UTSW |
7 |
109,315,302 (GRCm39) |
nonsense |
probably null |
|
R1619:BC051019
|
UTSW |
7 |
109,317,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R1768:BC051019
|
UTSW |
7 |
109,322,381 (GRCm39) |
missense |
probably benign |
0.04 |
R2001:BC051019
|
UTSW |
7 |
109,319,758 (GRCm39) |
nonsense |
probably null |
|
R4059:BC051019
|
UTSW |
7 |
109,317,202 (GRCm39) |
nonsense |
probably null |
|
R4790:BC051019
|
UTSW |
7 |
109,315,553 (GRCm39) |
missense |
probably benign |
0.01 |
R5091:BC051019
|
UTSW |
7 |
109,319,789 (GRCm39) |
missense |
probably null |
1.00 |
R7129:BC051019
|
UTSW |
7 |
109,319,825 (GRCm39) |
missense |
|
|
R7507:BC051019
|
UTSW |
7 |
109,315,475 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7743:BC051019
|
UTSW |
7 |
109,315,266 (GRCm39) |
missense |
probably damaging |
0.98 |
R8929:BC051019
|
UTSW |
7 |
109,315,233 (GRCm39) |
missense |
probably damaging |
0.97 |
R8931:BC051019
|
UTSW |
7 |
109,315,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R9497:BC051019
|
UTSW |
7 |
109,315,466 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:BC051019
|
UTSW |
7 |
109,319,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |