Incidental Mutation 'R5660:Fam83c'
| ID |
444019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83c
|
| Ensembl Gene |
ENSMUSG00000074647 |
| Gene Name |
family with sequence similarity 83, member C |
| Synonyms |
5530400B04Rik |
| MMRRC Submission |
043173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5660 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155671103-155676772 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 155671509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 642
(A642V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029142]
[ENSMUST00000029143]
[ENSMUST00000109638]
[ENSMUST00000129830]
[ENSMUST00000134278]
[ENSMUST00000154841]
|
| 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: A642V
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
AA Change: A642V
| 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: ENSMUST00000129830
|
| SMART Domains |
Protein: ENSMUSP00000120206
Gene: ENSMUSG00000027613
| Domain | Start | End | E-Value | Type |
|---|
|
eIF6
|
3 |
68 |
4.5e-4 |
SMART |
|
| 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: ENSMUST00000138962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141926
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154841
|
| SMART Domains |
Protein: ENSMUSP00000115715
Gene: ENSMUSG00000027613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:eIF-6
|
3 |
45 |
7.8e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,757,828 (GRCm39) |
N1307S |
probably benign |
Het |
| Abcf1 |
A |
T |
17: 36,274,539 (GRCm39) |
D41E |
possibly damaging |
Het |
| Adamts13 |
T |
C |
2: 26,886,761 (GRCm39) |
V966A |
probably benign |
Het |
| Adamts2 |
A |
T |
11: 50,667,472 (GRCm39) |
D470V |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,642,901 (GRCm39) |
F261L |
probably damaging |
Het |
| Akap3 |
C |
T |
6: 126,842,254 (GRCm39) |
A291V |
probably damaging |
Het |
| Akr1c6 |
G |
A |
13: 4,499,053 (GRCm39) |
V214I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,255 (GRCm39) |
I238F |
possibly damaging |
Het |
| Atg2b |
A |
T |
12: 105,615,383 (GRCm39) |
Y1024* |
probably null |
Het |
| Cad |
T |
A |
5: 31,234,191 (GRCm39) |
D1956E |
probably damaging |
Het |
| Cbs |
A |
T |
17: 31,843,220 (GRCm39) |
I237N |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,542,337 (GRCm39) |
T180A |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,313,686 (GRCm39) |
N1303K |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,873,315 (GRCm39) |
S2227P |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,972,722 (GRCm39) |
M324K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,321,574 (GRCm39) |
K4363R |
probably damaging |
Het |
| Eif2b4 |
A |
T |
5: 31,348,500 (GRCm39) |
Y238N |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,175,002 (GRCm39) |
T1904S |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,306,291 (GRCm39) |
N279S |
possibly damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,397 (GRCm39) |
N374S |
probably benign |
Het |
| Gm14401 |
T |
A |
2: 176,778,224 (GRCm39) |
H103Q |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,126,048 (GRCm39) |
|
noncoding transcript |
Het |
| Helb |
G |
A |
10: 119,946,984 (GRCm39) |
Q110* |
probably null |
Het |
| Ido1 |
T |
C |
8: 25,081,558 (GRCm39) |
D41G |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,898,152 (GRCm39) |
S805P |
probably benign |
Het |
| Matr3 |
C |
A |
18: 35,705,147 (GRCm39) |
A24E |
probably damaging |
Het |
| Mmp23 |
C |
T |
4: 155,735,710 (GRCm39) |
C287Y |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,087,918 (GRCm39) |
R147G |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,292,147 (GRCm39) |
K301E |
possibly damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,535 (GRCm39) |
L196P |
probably damaging |
Het |
| Or8g4 |
G |
A |
9: 39,662,063 (GRCm39) |
C127Y |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,671,776 (GRCm39) |
C60S |
probably benign |
Het |
| Rora |
A |
G |
9: 68,561,203 (GRCm39) |
S11G |
probably benign |
Het |
| Rps6ka5 |
G |
T |
12: 100,585,839 (GRCm39) |
H151Q |
possibly damaging |
Het |
| Sgsh |
A |
G |
11: 119,241,807 (GRCm39) |
S100P |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,694,902 (GRCm39) |
T1229A |
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,248,804 (GRCm39) |
Y62H |
probably damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Smg1 |
C |
T |
7: 117,742,570 (GRCm39) |
V3215I |
probably benign |
Het |
| Smyd2 |
G |
A |
1: 189,617,579 (GRCm39) |
P285L |
possibly damaging |
Het |
| Themis2 |
T |
C |
4: 132,523,567 (GRCm39) |
|
probably null |
Het |
| Tln1 |
A |
G |
4: 43,547,732 (GRCm39) |
V743A |
probably damaging |
Het |
| Tpo |
T |
A |
12: 30,150,495 (GRCm39) |
N462Y |
possibly damaging |
Het |
| Wnt2 |
T |
A |
6: 18,028,145 (GRCm39) |
M30L |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,576,365 (GRCm39) |
I239V |
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 |
|
IGL02695:Fam83c
|
APN |
2 |
155,673,435 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTCAGTCGCTTCTCATC -3'
(R):5'- CTGGCTCTAGATGACAGGAGATTG -3'
Sequencing Primer
(F):5'- AGTCGCTTCTCATCTGCAGAG -3'
(R):5'- AGATTGTCCCTGAGTCACAGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation