Incidental Mutation 'IGL02695:Fam83c'
ID |
303901 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam83c
|
Ensembl Gene |
ENSMUSG00000074647 |
Gene Name |
family with sequence similarity 83, member C |
Synonyms |
5530400B04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL02695
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
155671103-155676772 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155673435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 251
(D251G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029142]
[ENSMUST00000029143]
[ENSMUST00000109638]
[ENSMUST00000134278]
|
AlphaFold |
A2ARK0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029142
|
SMART Domains |
Protein: ENSMUSP00000029142 Gene: ENSMUSG00000027613
Domain | Start | End | E-Value | Type |
eIF6
|
3 |
204 |
2.72e-136 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029143
AA Change: D251G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000029143 Gene: ENSMUSG00000074647 AA Change: D251G
Domain | Start | End | E-Value | Type |
Pfam:DUF1669
|
61 |
337 |
3.1e-107 |
PFAM |
low complexity region
|
347 |
357 |
N/A |
INTRINSIC |
low complexity region
|
368 |
385 |
N/A |
INTRINSIC |
low complexity region
|
398 |
411 |
N/A |
INTRINSIC |
low complexity region
|
474 |
484 |
N/A |
INTRINSIC |
low complexity region
|
570 |
589 |
N/A |
INTRINSIC |
low complexity region
|
672 |
685 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109638
|
SMART Domains |
Protein: ENSMUSP00000105266 Gene: ENSMUSG00000027613
Domain | Start | End | E-Value | Type |
Pfam:eIF-6
|
3 |
70 |
1.2e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134278
|
SMART Domains |
Protein: ENSMUSP00000123190 Gene: ENSMUSG00000027613
Domain | Start | End | E-Value | Type |
Pfam:eIF-6
|
1 |
58 |
5.1e-25 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141926
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
T |
14: 66,287,929 (GRCm39) |
M389K |
probably benign |
Het |
Adamts4 |
C |
A |
1: 171,080,203 (GRCm39) |
T252K |
probably damaging |
Het |
Adgrb2 |
G |
A |
4: 129,912,625 (GRCm39) |
G1293D |
probably damaging |
Het |
Ankfn1 |
T |
C |
11: 89,282,645 (GRCm39) |
E1013G |
probably damaging |
Het |
Ankrd34b |
C |
A |
13: 92,576,120 (GRCm39) |
H451N |
possibly damaging |
Het |
Cd300c2 |
C |
T |
11: 114,892,379 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
T |
G |
13: 64,919,946 (GRCm39) |
Q637P |
probably benign |
Het |
Cpne6 |
A |
T |
14: 55,752,037 (GRCm39) |
I265F |
probably damaging |
Het |
Dot1l |
C |
A |
10: 80,613,442 (GRCm39) |
T18K |
probably damaging |
Het |
Fyb1 |
A |
G |
15: 6,610,402 (GRCm39) |
K325R |
probably damaging |
Het |
Gas2l2 |
T |
A |
11: 83,313,468 (GRCm39) |
I615F |
probably damaging |
Het |
Gigyf2 |
A |
G |
1: 87,344,549 (GRCm39) |
N494S |
probably benign |
Het |
Gnaz |
T |
C |
10: 74,827,974 (GRCm39) |
|
probably null |
Het |
Haus5 |
A |
T |
7: 30,362,702 (GRCm39) |
L36Q |
probably damaging |
Het |
Hecw2 |
C |
T |
1: 53,965,368 (GRCm39) |
G486D |
possibly damaging |
Het |
Hmcn2 |
T |
C |
2: 31,298,985 (GRCm39) |
F2777S |
possibly damaging |
Het |
Il1rl1 |
T |
C |
1: 40,485,718 (GRCm39) |
S290P |
possibly damaging |
Het |
Itgam |
G |
T |
7: 127,685,113 (GRCm39) |
A409S |
possibly damaging |
Het |
Kdm5b |
T |
A |
1: 134,532,223 (GRCm39) |
M467K |
possibly damaging |
Het |
Lama2 |
A |
C |
10: 26,876,771 (GRCm39) |
V2725G |
probably benign |
Het |
Lhpp |
G |
A |
7: 132,252,063 (GRCm39) |
R234Q |
probably damaging |
Het |
Maf1 |
T |
C |
15: 76,236,955 (GRCm39) |
S65P |
possibly damaging |
Het |
Mgat5 |
T |
A |
1: 127,339,868 (GRCm39) |
H416Q |
probably damaging |
Het |
Mta2 |
A |
G |
19: 8,925,728 (GRCm39) |
T408A |
probably benign |
Het |
Neb |
T |
A |
2: 52,145,603 (GRCm39) |
I2974F |
probably damaging |
Het |
Neb |
C |
T |
2: 52,101,608 (GRCm39) |
|
probably benign |
Het |
Or1j19 |
C |
T |
2: 36,677,332 (GRCm39) |
S265L |
possibly damaging |
Het |
Or2d4 |
A |
G |
7: 106,543,870 (GRCm39) |
S113P |
possibly damaging |
Het |
Or52p1 |
A |
G |
7: 104,267,678 (GRCm39) |
H264R |
probably damaging |
Het |
Or5w22 |
C |
T |
2: 87,362,461 (GRCm39) |
T28I |
probably benign |
Het |
Pcca |
T |
A |
14: 122,820,150 (GRCm39) |
|
probably benign |
Het |
Prlr |
T |
C |
15: 10,328,451 (GRCm39) |
F309L |
probably benign |
Het |
Slc28a1 |
A |
T |
7: 80,817,739 (GRCm39) |
Y536F |
probably benign |
Het |
Slco1a8 |
A |
G |
6: 141,933,486 (GRCm39) |
V433A |
probably damaging |
Het |
Stab1 |
T |
A |
14: 30,881,228 (GRCm39) |
N601Y |
probably damaging |
Het |
Stil |
G |
T |
4: 114,873,372 (GRCm39) |
V332F |
probably damaging |
Het |
Stk11 |
A |
G |
10: 79,961,311 (GRCm39) |
|
probably null |
Het |
Tmem59 |
A |
G |
4: 107,050,511 (GRCm39) |
N147S |
probably benign |
Het |
|
Other mutations in Fam83c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01303:Fam83c
|
APN |
2 |
155,676,362 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01470:Fam83c
|
APN |
2 |
155,676,728 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0255:Fam83c
|
UTSW |
2 |
155,671,672 (GRCm39) |
missense |
probably benign |
0.00 |
R0321:Fam83c
|
UTSW |
2 |
155,671,620 (GRCm39) |
missense |
probably benign |
|
R0449:Fam83c
|
UTSW |
2 |
155,672,215 (GRCm39) |
missense |
probably benign |
0.00 |
R1596:Fam83c
|
UTSW |
2 |
155,672,982 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1635:Fam83c
|
UTSW |
2 |
155,671,971 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2006:Fam83c
|
UTSW |
2 |
155,672,223 (GRCm39) |
missense |
probably benign |
0.04 |
R2165:Fam83c
|
UTSW |
2 |
155,673,444 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3840:Fam83c
|
UTSW |
2 |
155,676,668 (GRCm39) |
missense |
probably benign |
|
R3841:Fam83c
|
UTSW |
2 |
155,676,668 (GRCm39) |
missense |
probably benign |
|
R4693:Fam83c
|
UTSW |
2 |
155,672,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R5660:Fam83c
|
UTSW |
2 |
155,671,509 (GRCm39) |
missense |
probably benign |
0.08 |
R6364:Fam83c
|
UTSW |
2 |
155,676,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R6563:Fam83c
|
UTSW |
2 |
155,672,872 (GRCm39) |
missense |
probably damaging |
0.98 |
R6976:Fam83c
|
UTSW |
2 |
155,672,157 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7124:Fam83c
|
UTSW |
2 |
155,671,491 (GRCm39) |
missense |
probably benign |
0.00 |
R7643:Fam83c
|
UTSW |
2 |
155,672,924 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8088:Fam83c
|
UTSW |
2 |
155,673,559 (GRCm39) |
missense |
probably damaging |
0.98 |
R8113:Fam83c
|
UTSW |
2 |
155,676,740 (GRCm39) |
missense |
probably benign |
0.33 |
R8212:Fam83c
|
UTSW |
2 |
155,671,207 (GRCm39) |
missense |
probably benign |
0.00 |
R8710:Fam83c
|
UTSW |
2 |
155,671,642 (GRCm39) |
missense |
probably benign |
0.01 |
R8719:Fam83c
|
UTSW |
2 |
155,671,128 (GRCm39) |
missense |
probably benign |
0.00 |
R9194:Fam83c
|
UTSW |
2 |
155,671,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R9549:Fam83c
|
UTSW |
2 |
155,676,672 (GRCm39) |
missense |
|
|
R9642:Fam83c
|
UTSW |
2 |
155,672,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |