Incidental Mutation 'R6438:Fam185a'
| ID |
535644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam185a
|
| Ensembl Gene |
ENSMUSG00000047221 |
| Gene Name |
family with sequence similarity 185, member A |
| Synonyms |
|
| MMRRC Submission |
044576-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6438 (G1)
|
| Quality Score |
76.0075 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21629956-21687122 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 21663970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056045]
|
| AlphaFold |
Q7TPD2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056045
|
| SMART Domains |
Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.0%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
A |
T |
10: 67,384,371 (GRCm39) |
I78N |
probably damaging |
Het |
| Arhgap18 |
T |
C |
10: 26,648,694 (GRCm39) |
|
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,393 (GRCm39) |
T68A |
probably benign |
Het |
| Atxn2 |
T |
A |
5: 121,917,495 (GRCm39) |
I463N |
probably damaging |
Het |
| B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
| C1ra |
C |
T |
6: 124,490,736 (GRCm39) |
T43I |
possibly damaging |
Het |
| C6 |
T |
A |
15: 4,826,465 (GRCm39) |
Y683N |
possibly damaging |
Het |
| Catspere2 |
T |
C |
1: 177,938,869 (GRCm39) |
Y581H |
possibly damaging |
Het |
| Cdk12 |
T |
A |
11: 98,115,293 (GRCm39) |
Y811* |
probably null |
Het |
| Cfap20dc |
C |
T |
14: 8,431,701 (GRCm38) |
V644M |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,725,149 (GRCm39) |
E1159D |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,766,969 (GRCm39) |
S505T |
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,401,390 (GRCm39) |
Y13F |
probably damaging |
Het |
| Esco1 |
A |
T |
18: 10,572,031 (GRCm39) |
C770S |
probably damaging |
Het |
| Evpl |
C |
A |
11: 116,120,927 (GRCm39) |
R436L |
probably benign |
Het |
| Gm17078 |
A |
G |
14: 51,848,695 (GRCm39) |
V14A |
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,596,242 (GRCm39) |
*776Q |
probably null |
Het |
| Ldb2 |
T |
C |
5: 44,637,652 (GRCm39) |
R219G |
probably damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,712,062 (GRCm39) |
E587G |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 15,619,017 (GRCm39) |
S294P |
|
Het |
| Map7 |
A |
G |
10: 20,143,003 (GRCm39) |
E384G |
unknown |
Het |
| Miga1 |
T |
C |
3: 152,028,040 (GRCm39) |
D163G |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,099,382 (GRCm39) |
S1680F |
probably damaging |
Het |
| Nell2 |
C |
T |
15: 95,130,379 (GRCm39) |
V665M |
probably damaging |
Het |
| Npas3 |
T |
C |
12: 54,115,481 (GRCm39) |
V770A |
probably damaging |
Het |
| Pcm1 |
C |
T |
8: 41,778,418 (GRCm39) |
R1818W |
possibly damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,668,740 (GRCm39) |
N701K |
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,749,022 (GRCm39) |
V187A |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,214,725 (GRCm39) |
C654S |
probably damaging |
Het |
| Srek1ip1 |
A |
G |
13: 104,973,878 (GRCm39) |
Y95C |
probably benign |
Het |
| Synpo2l |
A |
G |
14: 20,711,204 (GRCm39) |
V472A |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,602,673 (GRCm39) |
I231N |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,314,266 (GRCm39) |
M717T |
probably benign |
Het |
| Zfp672 |
T |
C |
11: 58,207,563 (GRCm39) |
T253A |
probably benign |
Het |
|
| Other mutations in Fam185a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00726:Fam185a
|
APN |
5 |
21,685,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01980:Fam185a
|
APN |
5 |
21,664,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Fam185a
|
APN |
5 |
21,630,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02264:Fam185a
|
APN |
5 |
21,685,392 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02553:Fam185a
|
APN |
5 |
21,634,839 (GRCm39) |
splice site |
probably benign |
|
|
IGL02553:Fam185a
|
APN |
5 |
21,660,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03082:Fam185a
|
APN |
5 |
21,660,836 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
famine
|
UTSW |
5 |
21,630,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0389:Fam185a
|
UTSW |
5 |
21,664,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1872:Fam185a
|
UTSW |
5 |
21,685,328 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1883:Fam185a
|
UTSW |
5 |
21,630,242 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3775:Fam185a
|
UTSW |
5 |
21,660,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4190:Fam185a
|
UTSW |
5 |
21,630,122 (GRCm39) |
unclassified |
probably benign |
|
|
R4192:Fam185a
|
UTSW |
5 |
21,630,122 (GRCm39) |
unclassified |
probably benign |
|
|
R4194:Fam185a
|
UTSW |
5 |
21,630,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4704:Fam185a
|
UTSW |
5 |
21,685,471 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4724:Fam185a
|
UTSW |
5 |
21,660,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Fam185a
|
UTSW |
5 |
21,685,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6225:Fam185a
|
UTSW |
5 |
21,630,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6475:Fam185a
|
UTSW |
5 |
21,630,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7512:Fam185a
|
UTSW |
5 |
21,652,356 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8400:Fam185a
|
UTSW |
5 |
21,643,814 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8690:Fam185a
|
UTSW |
5 |
21,638,766 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9157:Fam185a
|
UTSW |
5 |
21,660,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGCTTTGGAGACACTGC -3'
(R):5'- TGACAGCAATAGAACCTGTGG -3'
Sequencing Primer
(F):5'- TTGGAGACACTGCACTATGC -3'
(R):5'- CCTGTGGCAAATTTAGAGTGAAAC -3'
|
| Posted On |
2018-09-24 |
Incidental Mutation