Incidental Mutation 'IGL03306:Fam169a'
ID |
416376 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam169a
|
Ensembl Gene |
ENSMUSG00000041817 |
Gene Name |
family with sequence similarity 169, member A |
Synonyms |
B230112C05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
IGL03306
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
97203795-97266801 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 97243497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 176
(Q176K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042517]
[ENSMUST00000169863]
|
AlphaFold |
Q5XG69 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042517
AA Change: Q176K
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000043738 Gene: ENSMUSG00000041817 AA Change: Q176K
Domain | Start | End | E-Value | Type |
low complexity region
|
374 |
386 |
N/A |
INTRINSIC |
low complexity region
|
602 |
619 |
N/A |
INTRINSIC |
low complexity region
|
630 |
642 |
N/A |
INTRINSIC |
low complexity region
|
650 |
663 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169863
AA Change: Q176K
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000126209 Gene: ENSMUSG00000041817 AA Change: Q176K
Domain | Start | End | E-Value | Type |
low complexity region
|
374 |
386 |
N/A |
INTRINSIC |
low complexity region
|
602 |
619 |
N/A |
INTRINSIC |
low complexity region
|
630 |
642 |
N/A |
INTRINSIC |
low complexity region
|
650 |
663 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
T |
A |
7: 76,239,252 (GRCm39) |
F584Y |
probably damaging |
Het |
Amer2 |
C |
A |
14: 60,616,001 (GRCm39) |
D65E |
probably damaging |
Het |
Arhgap28 |
A |
T |
17: 68,159,930 (GRCm39) |
L623Q |
probably damaging |
Het |
Cep152 |
T |
C |
2: 125,447,328 (GRCm39) |
T407A |
possibly damaging |
Het |
Cmpk2 |
A |
G |
12: 26,521,442 (GRCm39) |
D238G |
possibly damaging |
Het |
Fbxo17 |
T |
A |
7: 28,434,782 (GRCm39) |
I189N |
probably damaging |
Het |
Gm5581 |
T |
A |
6: 131,145,044 (GRCm39) |
|
noncoding transcript |
Het |
Gpcpd1 |
C |
T |
2: 132,375,993 (GRCm39) |
|
probably null |
Het |
Lhx2 |
A |
G |
2: 38,244,628 (GRCm39) |
Y123C |
probably damaging |
Het |
Llgl1 |
C |
A |
11: 60,602,180 (GRCm39) |
T741N |
possibly damaging |
Het |
Macc1 |
A |
G |
12: 119,410,603 (GRCm39) |
Q457R |
probably benign |
Het |
Mthfd2l |
A |
G |
5: 91,168,067 (GRCm39) |
T321A |
probably damaging |
Het |
Myo6 |
T |
C |
9: 80,153,837 (GRCm39) |
F271S |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,247,427 (GRCm39) |
V1959A |
probably benign |
Het |
Npsr1 |
A |
G |
9: 24,224,535 (GRCm39) |
D304G |
probably benign |
Het |
Nup205 |
T |
C |
6: 35,185,104 (GRCm39) |
V841A |
probably damaging |
Het |
Or10c1 |
A |
G |
17: 37,522,568 (GRCm39) |
Y59H |
probably damaging |
Het |
Or1j20 |
A |
T |
2: 36,760,537 (GRCm39) |
|
probably benign |
Het |
Osbpl9 |
A |
G |
4: 109,029,529 (GRCm39) |
|
probably benign |
Het |
Pdgfra |
A |
G |
5: 75,353,194 (GRCm39) |
N995D |
possibly damaging |
Het |
Ptgs1 |
A |
T |
2: 36,127,717 (GRCm39) |
H92L |
probably damaging |
Het |
Rasd1 |
T |
A |
11: 59,855,181 (GRCm39) |
I100F |
possibly damaging |
Het |
Rbm26 |
T |
C |
14: 105,388,758 (GRCm39) |
T378A |
probably damaging |
Het |
Slc12a3 |
T |
C |
8: 95,078,386 (GRCm39) |
S805P |
possibly damaging |
Het |
Smarcal1 |
G |
A |
1: 72,665,625 (GRCm39) |
V708I |
probably benign |
Het |
Strn |
A |
G |
17: 78,974,652 (GRCm39) |
S408P |
probably damaging |
Het |
Suclg1 |
A |
G |
6: 73,247,975 (GRCm39) |
N232S |
probably benign |
Het |
Tmbim1 |
A |
G |
1: 74,332,225 (GRCm39) |
Y101H |
probably damaging |
Het |
Ube3a |
T |
A |
7: 58,935,895 (GRCm39) |
L614Q |
probably damaging |
Het |
Wrn |
A |
G |
8: 33,826,149 (GRCm39) |
L171P |
probably damaging |
Het |
Zfp335 |
T |
C |
2: 164,737,904 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Fam169a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01325:Fam169a
|
APN |
13 |
97,259,207 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01380:Fam169a
|
APN |
13 |
97,228,459 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01761:Fam169a
|
APN |
13 |
97,228,426 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02628:Fam169a
|
APN |
13 |
97,247,796 (GRCm39) |
splice site |
probably benign |
|
IGL02739:Fam169a
|
APN |
13 |
97,230,563 (GRCm39) |
splice site |
probably benign |
|
IGL03171:Fam169a
|
APN |
13 |
97,246,522 (GRCm39) |
splice site |
probably benign |
|
IGL03377:Fam169a
|
APN |
13 |
97,228,381 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02980:Fam169a
|
UTSW |
13 |
97,250,188 (GRCm39) |
critical splice donor site |
probably null |
|
R0282:Fam169a
|
UTSW |
13 |
97,234,223 (GRCm39) |
splice site |
probably benign |
|
R1319:Fam169a
|
UTSW |
13 |
97,234,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Fam169a
|
UTSW |
13 |
97,255,038 (GRCm39) |
missense |
probably benign |
0.01 |
R1468:Fam169a
|
UTSW |
13 |
97,255,038 (GRCm39) |
missense |
probably benign |
0.01 |
R2037:Fam169a
|
UTSW |
13 |
97,243,600 (GRCm39) |
missense |
probably benign |
0.37 |
R2380:Fam169a
|
UTSW |
13 |
97,255,043 (GRCm39) |
splice site |
probably benign |
|
R3805:Fam169a
|
UTSW |
13 |
97,234,192 (GRCm39) |
missense |
probably benign |
0.00 |
R4434:Fam169a
|
UTSW |
13 |
97,263,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4435:Fam169a
|
UTSW |
13 |
97,263,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4437:Fam169a
|
UTSW |
13 |
97,263,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4590:Fam169a
|
UTSW |
13 |
97,234,093 (GRCm39) |
missense |
probably benign |
0.02 |
R4896:Fam169a
|
UTSW |
13 |
97,234,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Fam169a
|
UTSW |
13 |
97,234,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R5276:Fam169a
|
UTSW |
13 |
97,255,004 (GRCm39) |
missense |
probably benign |
0.01 |
R5370:Fam169a
|
UTSW |
13 |
97,243,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R5687:Fam169a
|
UTSW |
13 |
97,230,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R6151:Fam169a
|
UTSW |
13 |
97,230,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R7711:Fam169a
|
UTSW |
13 |
97,263,196 (GRCm39) |
nonsense |
probably null |
|
R8322:Fam169a
|
UTSW |
13 |
97,259,260 (GRCm39) |
missense |
probably benign |
0.00 |
R8493:Fam169a
|
UTSW |
13 |
97,259,367 (GRCm39) |
missense |
probably benign |
0.00 |
R8698:Fam169a
|
UTSW |
13 |
97,243,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R8794:Fam169a
|
UTSW |
13 |
97,250,628 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9231:Fam169a
|
UTSW |
13 |
97,254,967 (GRCm39) |
missense |
probably benign |
0.08 |
R9479:Fam169a
|
UTSW |
13 |
97,250,695 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9479:Fam169a
|
UTSW |
13 |
97,246,543 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Posted On |
2016-08-02 |