Incidental Mutation 'R3798:Fam43b'
ID |
272835 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam43b
|
Ensembl Gene |
ENSMUSG00000078235 |
Gene Name |
family with sequence similarity 43, member B |
Synonyms |
OTTMUSG00000009974 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.603)
|
Stock # |
R3798 (G1)
|
Quality Score |
103 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
138121403-138123769 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 138122409 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 304
(R304G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100649
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105032]
|
AlphaFold |
A2AM80 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000062902
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105032
AA Change: R304G
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000100649 Gene: ENSMUSG00000078235 AA Change: R304G
Domain | Start | End | E-Value | Type |
Pfam:PID_2
|
71 |
265 |
3.4e-75 |
PFAM |
low complexity region
|
306 |
315 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0639 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
T |
A |
7: 131,033,694 (GRCm39) |
V237E |
probably damaging |
Het |
Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,550,065 (GRCm39) |
S21P |
probably damaging |
Het |
Btbd16 |
A |
G |
7: 130,378,870 (GRCm39) |
N5D |
probably benign |
Het |
Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
Cyld |
T |
C |
8: 89,461,558 (GRCm39) |
L662P |
probably damaging |
Het |
Eif2ak4 |
C |
T |
2: 118,304,564 (GRCm39) |
R1530C |
probably damaging |
Het |
Ip6k3 |
T |
C |
17: 27,364,080 (GRCm39) |
I323V |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,358,231 (GRCm39) |
L599P |
probably damaging |
Het |
Lancl1 |
G |
A |
1: 67,073,303 (GRCm39) |
T60I |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Lrrc8d |
T |
A |
5: 105,960,355 (GRCm39) |
I255N |
probably benign |
Het |
Ndst1 |
A |
G |
18: 60,846,238 (GRCm39) |
F24L |
possibly damaging |
Het |
Notch1 |
A |
T |
2: 26,368,630 (GRCm39) |
V553E |
probably benign |
Het |
Nsd3 |
T |
A |
8: 26,188,873 (GRCm39) |
W69R |
probably damaging |
Het |
Or2g25 |
T |
A |
17: 37,970,997 (GRCm39) |
I76F |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,711,051 (GRCm39) |
I107T |
possibly damaging |
Het |
Pcnx3 |
G |
A |
19: 5,728,696 (GRCm39) |
Q422* |
probably null |
Het |
Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
Ptbp3 |
T |
C |
4: 59,546,166 (GRCm39) |
I9V |
probably benign |
Het |
Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Slx4ip |
T |
A |
2: 136,909,543 (GRCm39) |
D109E |
probably benign |
Het |
Tas2r118 |
T |
C |
6: 23,969,822 (GRCm39) |
K80E |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,725,087 (GRCm39) |
|
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,402 (GRCm39) |
Y267C |
possibly damaging |
Het |
Wdr90 |
T |
C |
17: 26,069,472 (GRCm39) |
S1194G |
probably benign |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
|
Other mutations in Fam43b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R2128:Fam43b
|
UTSW |
4 |
138,123,299 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2258:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
R2281:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
R2413:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
R2416:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
R2417:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
R3705:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
R3715:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
R3797:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
R3854:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
R3856:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
R4639:Fam43b
|
UTSW |
4 |
138,123,278 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4868:Fam43b
|
UTSW |
4 |
138,123,108 (GRCm39) |
missense |
probably benign |
0.32 |
R5129:Fam43b
|
UTSW |
4 |
138,122,783 (GRCm39) |
nonsense |
probably null |
|
R6176:Fam43b
|
UTSW |
4 |
138,122,522 (GRCm39) |
missense |
probably damaging |
0.99 |
R7296:Fam43b
|
UTSW |
4 |
138,123,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R8280:Fam43b
|
UTSW |
4 |
138,123,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGCGACCATTACAGTGAC -3'
(R):5'- AGTCTTCACCTGGGTCTACC -3'
Sequencing Primer
(F):5'- GACCATTACAGTGACCGCGAG -3'
(R):5'- TTCAGCGACTTCAAGCGG -3'
|
Posted On |
2015-03-25 |