Incidental Mutation 'R8212:Fam83c'
| ID |
636198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83c
|
| Ensembl Gene |
ENSMUSG00000074647 |
| Gene Name |
family with sequence similarity 83, member C |
| Synonyms |
5530400B04Rik |
| MMRRC Submission |
067635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R8212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155671103-155676772 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155671207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 743
(F743L)
|
| 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: F743L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
AA Change: F743L
| 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 |
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: 99.9%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,670,240 (GRCm39) |
I2369V |
probably benign |
Het |
| Ager |
G |
A |
17: 34,819,586 (GRCm39) |
R368H |
possibly damaging |
Het |
| Arl2 |
G |
T |
19: 6,187,596 (GRCm39) |
T84K |
probably damaging |
Het |
| Cfap126 |
A |
T |
1: 170,953,630 (GRCm39) |
T67S |
probably damaging |
Het |
| Cfap45 |
A |
G |
1: 172,369,067 (GRCm39) |
|
probably null |
Het |
| Cfdp1 |
A |
T |
8: 112,571,815 (GRCm39) |
N31K |
probably damaging |
Het |
| Clpx |
A |
G |
9: 65,228,173 (GRCm39) |
T408A |
possibly damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,424 (GRCm39) |
N526S |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,920,134 (GRCm39) |
D215G |
probably damaging |
Het |
| Cstf1 |
T |
C |
2: 172,219,872 (GRCm39) |
S328P |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,637,205 (GRCm39) |
E193G |
possibly damaging |
Het |
| Fn1 |
A |
G |
1: 71,682,064 (GRCm39) |
I364T |
probably benign |
Het |
| Foxo3 |
T |
C |
10: 42,072,991 (GRCm39) |
M509V |
possibly damaging |
Het |
| Galnt6 |
T |
C |
15: 100,591,308 (GRCm39) |
T599A |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,060,676 (GRCm39) |
S58P |
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,480,242 (GRCm39) |
A402V |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,946,012 (GRCm39) |
A1200S |
probably benign |
Het |
| Nlrp5 |
A |
T |
7: 23,116,762 (GRCm39) |
D162V |
probably benign |
Het |
| Or14j6 |
T |
C |
17: 38,215,148 (GRCm39) |
V237A |
probably benign |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pcf11 |
G |
A |
7: 92,308,706 (GRCm39) |
R589C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,362,696 (GRCm39) |
D574G |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,422,250 (GRCm39) |
S68P |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,460,188 (GRCm39) |
M95V |
probably damaging |
Het |
| Polr2h |
T |
C |
16: 20,536,746 (GRCm39) |
|
probably null |
Het |
| Ppef2 |
T |
A |
5: 92,376,524 (GRCm39) |
I668L |
possibly damaging |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rwdd1 |
A |
G |
10: 33,878,523 (GRCm39) |
V104A |
probably damaging |
Het |
| Slc2a9 |
G |
T |
5: 38,637,402 (GRCm39) |
H25N |
probably benign |
Het |
| Slc36a3 |
T |
A |
11: 55,015,907 (GRCm39) |
I416F |
probably damaging |
Het |
| Sppl2b |
T |
A |
10: 80,701,193 (GRCm39) |
V356D |
probably damaging |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,555,918 (GRCm39) |
T99A |
probably damaging |
Het |
| Tm9sf3 |
A |
T |
19: 41,229,074 (GRCm39) |
M243K |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,746,832 (GRCm39) |
Y6H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,612,626 (GRCm39) |
H17151L |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,439,624 (GRCm39) |
V182A |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,310,373 (GRCm39) |
D724E |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,569 (GRCm39) |
V946D |
probably damaging |
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 |
|
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 |
|
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'- TCCAGACTTGAACCTGAGCATG -3'
(R):5'- GTTTGGCCCATTCAGGAGTGAG -3'
Sequencing Primer
(F):5'- AGACTTGAACCTGAGCATGTCGTC -3'
(R):5'- CCATTCAGGAGTGAGGGACC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation