Incidental Mutation 'R4640:Fam124b'
| ID |
351596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam124b
|
| Ensembl Gene |
ENSMUSG00000043230 |
| Gene Name |
family with sequence similarity 124, member B |
| Synonyms |
A830043J08Rik |
| MMRRC Submission |
041902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4640 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
80176416-80192050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80191243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 47
(R47C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058748]
|
| AlphaFold |
Q8BLQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058748
AA Change: R47C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052208
Gene: ENSMUSG00000043230
AA Change: R47C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM124
|
10 |
244 |
1.2e-107 |
PFAM |
|
low complexity region
|
288 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161427
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,205,947 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,878,434 (GRCm39) |
|
probably benign |
Het |
| Cct4 |
T |
A |
11: 22,952,297 (GRCm39) |
S463T |
probably benign |
Het |
| Cfap251 |
G |
T |
5: 123,440,495 (GRCm39) |
V1094L |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,894,093 (GRCm39) |
N98S |
probably damaging |
Het |
| Copz2 |
A |
T |
11: 96,747,533 (GRCm39) |
Q172L |
possibly damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,494,369 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
C |
T |
7: 55,563,199 (GRCm39) |
T865I |
possibly damaging |
Het |
| Cyp2c37 |
A |
T |
19: 40,000,276 (GRCm39) |
D466V |
possibly damaging |
Het |
| Dytn |
A |
G |
1: 63,682,507 (GRCm39) |
L380P |
possibly damaging |
Het |
| Foxe3 |
G |
A |
4: 114,782,972 (GRCm39) |
A80V |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,734 (GRCm39) |
|
noncoding transcript |
Het |
| Kera |
A |
T |
10: 97,448,749 (GRCm39) |
Y323F |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,946,197 (GRCm39) |
Y205F |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,698,237 (GRCm39) |
E380G |
probably benign |
Het |
| Mcm2 |
A |
T |
6: 88,864,786 (GRCm39) |
H563Q |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,352,974 (GRCm39) |
E409G |
probably benign |
Het |
| Mns1 |
A |
G |
9: 72,346,564 (GRCm39) |
K16E |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,349,153 (GRCm38) |
|
noncoding transcript |
Het |
| Nrxn1 |
A |
G |
17: 90,868,196 (GRCm39) |
S1105P |
probably damaging |
Het |
| Odf2l |
G |
A |
3: 144,834,706 (GRCm39) |
R186H |
probably damaging |
Het |
| Or13g1 |
T |
A |
7: 85,956,274 (GRCm39) |
T16S |
probably benign |
Het |
| Or2d3c |
T |
C |
7: 106,525,800 (GRCm39) |
I289V |
possibly damaging |
Het |
| Phxr2 |
T |
C |
10: 98,961,931 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,725 (GRCm39) |
F243S |
probably damaging |
Het |
| Ppp1r27 |
T |
C |
11: 120,441,553 (GRCm39) |
N76D |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 22,972,797 (GRCm39) |
T236A |
probably damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,102,975 (GRCm39) |
|
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,552,616 (GRCm39) |
Q193L |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,827,698 (GRCm39) |
S39G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,564,513 (GRCm39) |
V883A |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,134,550 (GRCm39) |
V362E |
probably damaging |
Het |
|
| Other mutations in Fam124b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Fam124b
|
APN |
1 |
80,190,852 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03384:Fam124b
|
APN |
1 |
80,177,673 (GRCm39) |
missense |
probably benign |
|
|
R0233:Fam124b
|
UTSW |
1 |
80,190,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Fam124b
|
UTSW |
1 |
80,190,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Fam124b
|
UTSW |
1 |
80,191,056 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1403:Fam124b
|
UTSW |
1 |
80,191,056 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1514:Fam124b
|
UTSW |
1 |
80,178,148 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1569:Fam124b
|
UTSW |
1 |
80,190,852 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1983:Fam124b
|
UTSW |
1 |
80,191,364 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3104:Fam124b
|
UTSW |
1 |
80,190,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5014:Fam124b
|
UTSW |
1 |
80,177,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6180:Fam124b
|
UTSW |
1 |
80,177,902 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7618:Fam124b
|
UTSW |
1 |
80,191,554 (GRCm39) |
start gained |
probably benign |
|
|
R7682:Fam124b
|
UTSW |
1 |
80,191,282 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7720:Fam124b
|
UTSW |
1 |
80,177,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7812:Fam124b
|
UTSW |
1 |
80,191,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Fam124b
|
UTSW |
1 |
80,191,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Fam124b
|
UTSW |
1 |
80,191,512 (GRCm39) |
start gained |
probably benign |
|
|
R7989:Fam124b
|
UTSW |
1 |
80,191,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8851:Fam124b
|
UTSW |
1 |
80,190,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Fam124b
|
UTSW |
1 |
80,190,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9292:Fam124b
|
UTSW |
1 |
80,191,221 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9607:Fam124b
|
UTSW |
1 |
80,190,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0975:Fam124b
|
UTSW |
1 |
80,190,843 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0005:Fam124b
|
UTSW |
1 |
80,190,843 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0062:Fam124b
|
UTSW |
1 |
80,190,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fam124b
|
UTSW |
1 |
80,191,120 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Z1177:Fam124b
|
UTSW |
1 |
80,177,805 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTGTGCAGACTGTAGAATTC -3'
(R):5'- TCGGGTGGCCTTCATCATAATC -3'
Sequencing Primer
(F):5'- CAGACTGTAGAATTCCTGATTGGCAG -3'
(R):5'- ATAATCTTCACATAGCCTGCCATGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation