Incidental Mutation 'R6563:Fam83c'
| ID |
522525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83c
|
| Ensembl Gene |
ENSMUSG00000074647 |
| Gene Name |
family with sequence similarity 83, member C |
| Synonyms |
5530400B04Rik |
| MMRRC Submission |
044687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6563 (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 155672872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 295
(V295A)
|
| 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 damaging
Transcript: ENSMUST00000029143
AA Change: V295A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
AA Change: V295A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap11a |
A |
T |
2: 113,664,247 (GRCm39) |
C679S |
probably benign |
Het |
| Atg4d |
C |
T |
9: 21,179,756 (GRCm39) |
L235F |
possibly damaging |
Het |
| Cyp2d22 |
A |
T |
15: 82,256,113 (GRCm39) |
W174R |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,349,283 (GRCm39) |
H259L |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,416,229 (GRCm39) |
H493L |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,202,738 (GRCm39) |
D759V |
probably damaging |
Het |
| Dvl1 |
T |
A |
4: 155,940,710 (GRCm39) |
N443K |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,120,819 (GRCm39) |
V2156A |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
| Gphn |
T |
C |
12: 78,727,170 (GRCm39) |
|
probably null |
Het |
| Irs1 |
T |
A |
1: 82,266,128 (GRCm39) |
N696I |
probably damaging |
Het |
| Kmt5c |
A |
G |
7: 4,745,628 (GRCm39) |
Y96C |
probably damaging |
Het |
| Krt77 |
G |
T |
15: 101,771,358 (GRCm39) |
T315N |
probably damaging |
Het |
| L3mbtl3 |
A |
C |
10: 26,178,761 (GRCm39) |
|
probably null |
Het |
| Lama3 |
A |
T |
18: 12,670,823 (GRCm39) |
Y2409F |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,533,169 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
T |
7: 27,008,488 (GRCm39) |
N1273K |
probably damaging |
Het |
| Mfsd13b |
G |
A |
7: 120,594,690 (GRCm39) |
A321T |
probably damaging |
Het |
| Mvb12b |
A |
T |
2: 33,715,128 (GRCm39) |
H167Q |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,467,146 (GRCm39) |
N230Y |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 78,871,051 (GRCm39) |
R140S |
possibly damaging |
Het |
| Prkar2b |
G |
T |
12: 32,043,785 (GRCm39) |
|
probably null |
Het |
| Pwwp2a |
G |
T |
11: 43,596,592 (GRCm39) |
A586S |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,794,917 (GRCm39) |
V1150A |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,007,143 (GRCm39) |
|
probably null |
Het |
| Slk |
T |
C |
19: 47,624,908 (GRCm39) |
|
probably null |
Het |
| Snx3 |
A |
G |
10: 42,402,032 (GRCm39) |
E82G |
possibly damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,047 (GRCm39) |
V92A |
possibly damaging |
Het |
| Srcin1 |
A |
T |
11: 97,425,600 (GRCm39) |
Y486N |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,895,521 (GRCm39) |
E336G |
probably benign |
Het |
| Terf2ip |
G |
T |
8: 112,744,834 (GRCm39) |
V384F |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,915,968 (GRCm39) |
S1250C |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,667,985 (GRCm39) |
E1263G |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
possibly damaging |
Het |
| Utp25 |
C |
A |
1: 192,800,698 (GRCm39) |
R374L |
probably damaging |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,030 (GRCm39) |
I199T |
possibly damaging |
Het |
| Vmn1r225 |
C |
T |
17: 20,722,763 (GRCm39) |
A68V |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,781,137 (GRCm39) |
N448Y |
possibly 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 |
|
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'- TCATAACTAGAGTCGGGTCAAGG -3'
(R):5'- TGAGCTCCATTGTCCCAAG -3'
Sequencing Primer
(F):5'- ATGAGGGTCTCCAAAGCCCTTC -3'
(R):5'- TCCATTGTCCCAAGGCCAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation