Incidental Mutation 'IGL01153:Fam149b'
| ID |
52743 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam149b
|
| Ensembl Gene |
ENSMUSG00000039599 |
| Gene Name |
family with sequence similarity 149, member B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.287)
|
| Stock # |
IGL01153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
20398230-20433559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20427949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 319
(T319A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051915]
[ENSMUST00000090499]
[ENSMUST00000090503]
[ENSMUST00000225834]
[ENSMUST00000225942]
[ENSMUST00000225991]
[ENSMUST00000225597]
|
| AlphaFold |
Q6NSV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051915
|
| SMART Domains |
Protein: ENSMUSP00000056907
Gene: ENSMUSG00000039599
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3719
|
116 |
183 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090499
AA Change: T412A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087985
Gene: ENSMUSG00000039599
AA Change: T412A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3719
|
116 |
181 |
1.5e-28 |
PFAM |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090503
AA Change: T319A
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000087989
Gene: ENSMUSG00000039599
AA Change: T319A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3719
|
116 |
157 |
5.7e-14 |
PFAM |
|
low complexity region
|
276 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225114
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225834
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225942
AA Change: T412A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225837
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225597
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,567,247 (GRCm39) |
I5309V |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,349,724 (GRCm39) |
V482A |
possibly damaging |
Het |
| Ankrd22 |
A |
T |
19: 34,106,229 (GRCm39) |
V81E |
probably damaging |
Het |
| Ccr5 |
C |
A |
9: 123,924,649 (GRCm39) |
T84K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 32,985,502 (GRCm39) |
|
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,616,092 (GRCm39) |
E307K |
probably damaging |
Het |
| Cyth2 |
T |
C |
7: 45,457,813 (GRCm39) |
Y120C |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,681,430 (GRCm39) |
D69E |
probably benign |
Het |
| Ece2 |
T |
A |
16: 20,451,544 (GRCm39) |
M215K |
possibly damaging |
Het |
| Enox2 |
C |
A |
X: 48,151,015 (GRCm39) |
|
probably null |
Het |
| Fam120c |
T |
C |
X: 150,182,801 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
A |
T |
17: 7,998,874 (GRCm39) |
|
probably null |
Het |
| Gcsh |
T |
A |
8: 117,710,549 (GRCm39) |
D138V |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,837,321 (GRCm39) |
H331Q |
probably benign |
Het |
| Iars1 |
A |
G |
13: 49,865,281 (GRCm39) |
N586D |
probably damaging |
Het |
| Idh3g |
A |
G |
X: 72,823,668 (GRCm39) |
V280A |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 58,004,550 (GRCm39) |
S115P |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,370 (GRCm39) |
|
probably null |
Het |
| Lyset |
T |
A |
12: 102,711,135 (GRCm39) |
Y119* |
probably null |
Het |
| Mael |
T |
C |
1: 166,029,919 (GRCm39) |
K334E |
possibly damaging |
Het |
| Me3 |
A |
C |
7: 89,498,844 (GRCm39) |
T475P |
probably damaging |
Het |
| Mrpl18 |
A |
G |
17: 13,134,693 (GRCm39) |
L24P |
possibly damaging |
Het |
| Nol4 |
C |
A |
18: 22,902,850 (GRCm39) |
R460L |
probably damaging |
Het |
| Numa1 |
A |
T |
7: 101,643,951 (GRCm39) |
E181V |
probably damaging |
Het |
| Or6c2 |
T |
A |
10: 129,362,864 (GRCm39) |
I256N |
probably damaging |
Het |
| Pex2 |
A |
T |
3: 5,626,424 (GRCm39) |
H128Q |
probably benign |
Het |
| Pex3 |
A |
T |
10: 13,428,597 (GRCm39) |
|
probably null |
Het |
| Psmb8 |
A |
G |
17: 34,420,215 (GRCm39) |
Y269C |
possibly damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,615,096 (GRCm39) |
K62R |
probably benign |
Het |
| Strn4 |
G |
A |
7: 16,571,846 (GRCm39) |
G613D |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,470,204 (GRCm39) |
W875R |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,845,451 (GRCm39) |
D149G |
possibly damaging |
Het |
| Zfp473 |
A |
G |
7: 44,383,992 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,703 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Zgrf1 |
G |
A |
3: 127,396,055 (GRCm39) |
G534R |
probably damaging |
Het |
|
| Other mutations in Fam149b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02323:Fam149b
|
APN |
14 |
20,413,369 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02631:Fam149b
|
APN |
14 |
20,425,614 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03208:Fam149b
|
APN |
14 |
20,401,370 (GRCm39) |
splice site |
probably benign |
|
|
R0334:Fam149b
|
UTSW |
14 |
20,413,492 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2511:Fam149b
|
UTSW |
14 |
20,428,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Fam149b
|
UTSW |
14 |
20,425,578 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4659:Fam149b
|
UTSW |
14 |
20,417,941 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5011:Fam149b
|
UTSW |
14 |
20,413,439 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5013:Fam149b
|
UTSW |
14 |
20,413,439 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5583:Fam149b
|
UTSW |
14 |
20,413,368 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5791:Fam149b
|
UTSW |
14 |
20,401,394 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5905:Fam149b
|
UTSW |
14 |
20,409,978 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6035:Fam149b
|
UTSW |
14 |
20,427,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Fam149b
|
UTSW |
14 |
20,427,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Fam149b
|
UTSW |
14 |
20,431,853 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7210:Fam149b
|
UTSW |
14 |
20,428,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7976:Fam149b
|
UTSW |
14 |
20,427,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8529:Fam149b
|
UTSW |
14 |
20,408,370 (GRCm39) |
splice site |
probably null |
|
|
R8971:Fam149b
|
UTSW |
14 |
20,402,777 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9743:Fam149b
|
UTSW |
14 |
20,413,411 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2013-06-21 |
Incidental Mutation