Incidental Mutation 'R2896:Fam83d'
ID |
260787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam83d
|
Ensembl Gene |
ENSMUSG00000027654 |
Gene Name |
family with sequence similarity 83, member D |
Synonyms |
2310007D09Rik |
MMRRC Submission |
040484-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R2896 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158610013-158628557 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 158627898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 529
(R529Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029183]
|
AlphaFold |
Q9D7I8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029183
AA Change: R529Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029183 Gene: ENSMUSG00000027654 AA Change: R529Q
Domain | Start | End | E-Value | Type |
Pfam:DUF1669
|
17 |
293 |
1.4e-100 |
PFAM |
Pfam:PLDc_2
|
149 |
288 |
3.1e-12 |
PFAM |
low complexity region
|
345 |
359 |
N/A |
INTRINSIC |
low complexity region
|
458 |
492 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151801
|
Meta Mutation Damage Score |
0.3658 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (30/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
Bpifb4 |
T |
G |
2: 153,796,357 (GRCm39) |
|
probably benign |
Het |
Cachd1 |
T |
A |
4: 100,828,100 (GRCm39) |
L616Q |
probably damaging |
Het |
Cmklr2 |
T |
A |
1: 63,222,321 (GRCm39) |
I305L |
probably benign |
Het |
Crebbp |
A |
G |
16: 3,956,680 (GRCm39) |
L381P |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Esp6 |
T |
A |
17: 40,873,834 (GRCm39) |
M7K |
possibly damaging |
Het |
Gm26526 |
T |
G |
7: 39,238,437 (GRCm39) |
|
noncoding transcript |
Het |
Gm8374 |
T |
A |
14: 18,537,084 (GRCm39) |
R47* |
probably null |
Het |
Gss |
A |
G |
2: 155,406,749 (GRCm39) |
L342P |
probably damaging |
Het |
Ighv1-67 |
T |
A |
12: 115,567,595 (GRCm39) |
T106S |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,081,955 (GRCm39) |
Y668H |
possibly damaging |
Het |
Lcmt1 |
A |
G |
7: 123,020,809 (GRCm39) |
R245G |
possibly damaging |
Het |
Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
Pdcl |
A |
T |
2: 37,245,702 (GRCm39) |
D100E |
possibly damaging |
Het |
Phkg1 |
C |
A |
5: 129,893,471 (GRCm39) |
K326N |
possibly damaging |
Het |
Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
Prss1 |
G |
A |
6: 41,440,639 (GRCm39) |
W238* |
probably null |
Het |
Rdh10 |
A |
T |
1: 16,176,329 (GRCm39) |
|
probably null |
Het |
Ror1 |
T |
C |
4: 99,953,477 (GRCm39) |
L21P |
unknown |
Het |
Skint8 |
A |
G |
4: 111,807,333 (GRCm39) |
I340V |
probably null |
Het |
Spata18 |
T |
C |
5: 73,815,145 (GRCm39) |
S85P |
probably damaging |
Het |
Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
Ttll3 |
G |
T |
6: 113,369,683 (GRCm39) |
A76S |
probably benign |
Het |
Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
possibly damaging |
Het |
Ubn1 |
A |
G |
16: 4,873,083 (GRCm39) |
H35R |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,182,955 (GRCm39) |
|
probably null |
Het |
Zfp456 |
T |
C |
13: 67,515,416 (GRCm39) |
R97G |
possibly damaging |
Het |
|
Other mutations in Fam83d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02066:Fam83d
|
APN |
2 |
158,627,793 (GRCm39) |
missense |
probably benign |
0.37 |
IGL02420:Fam83d
|
APN |
2 |
158,627,655 (GRCm39) |
missense |
probably benign |
0.00 |
R0277:Fam83d
|
UTSW |
2 |
158,627,467 (GRCm39) |
missense |
probably benign |
0.05 |
R0323:Fam83d
|
UTSW |
2 |
158,627,467 (GRCm39) |
missense |
probably benign |
0.05 |
R0349:Fam83d
|
UTSW |
2 |
158,621,768 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0571:Fam83d
|
UTSW |
2 |
158,627,611 (GRCm39) |
nonsense |
probably null |
|
R0799:Fam83d
|
UTSW |
2 |
158,621,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R1164:Fam83d
|
UTSW |
2 |
158,625,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Fam83d
|
UTSW |
2 |
158,610,443 (GRCm39) |
missense |
probably benign |
0.01 |
R1186:Fam83d
|
UTSW |
2 |
158,627,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R1816:Fam83d
|
UTSW |
2 |
158,610,070 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4500:Fam83d
|
UTSW |
2 |
158,627,187 (GRCm39) |
missense |
probably benign |
0.10 |
R4597:Fam83d
|
UTSW |
2 |
158,627,142 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5416:Fam83d
|
UTSW |
2 |
158,627,552 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5866:Fam83d
|
UTSW |
2 |
158,621,750 (GRCm39) |
splice site |
probably null |
|
R6328:Fam83d
|
UTSW |
2 |
158,627,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R6364:Fam83d
|
UTSW |
2 |
158,625,179 (GRCm39) |
critical splice donor site |
probably null |
|
R7031:Fam83d
|
UTSW |
2 |
158,627,227 (GRCm39) |
missense |
probably benign |
0.01 |
R8721:Fam83d
|
UTSW |
2 |
158,627,522 (GRCm39) |
missense |
probably benign |
0.33 |
R9208:Fam83d
|
UTSW |
2 |
158,610,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R9801:Fam83d
|
UTSW |
2 |
158,610,310 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Fam83d
|
UTSW |
2 |
158,627,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACGAGAGCTTCCTTCCTC -3'
(R):5'- AACCCGGCAGTCACTGATAG -3'
Sequencing Primer
(F):5'- GCATCCAAGATGTCAGTGTCG -3'
(R):5'- CGGCAGTCACTGATAGGGAGG -3'
|
Posted On |
2015-01-23 |