Incidental Mutation 'IGL02631:Fam149b'
ID |
301306 |
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 # |
IGL02631
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
20398230-20433559 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 20425614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 300
(V300M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056907
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051915]
[ENSMUST00000090499]
[ENSMUST00000090503]
[ENSMUST00000225991]
[ENSMUST00000225942]
[ENSMUST00000225834]
[ENSMUST00000225597]
[ENSMUST00000224721]
|
AlphaFold |
Q6NSV7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051915
AA Change: V300M
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000056907 Gene: ENSMUSG00000039599 AA Change: V300M
Domain | Start | End | E-Value | Type |
Pfam:DUF3719
|
116 |
183 |
2.2e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090499
AA Change: V354M
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000087985 Gene: ENSMUSG00000039599 AA Change: V354M
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 |
probably benign
Transcript: ENSMUST00000090503
AA Change: V261M
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000087989 Gene: ENSMUSG00000039599 AA Change: V261M
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 |
possibly damaging
Transcript: ENSMUST00000225991
AA Change: V150M
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225363
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225942
AA Change: V354M
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225834
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225114
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225837
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225597
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224721
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2b2 |
A |
G |
6: 113,725,506 (GRCm39) |
S1242P |
probably damaging |
Het |
Bglap |
A |
T |
3: 88,290,987 (GRCm39) |
Y81* |
probably null |
Het |
Ccdc83 |
T |
C |
7: 89,893,277 (GRCm39) |
D160G |
possibly damaging |
Het |
Cep97 |
A |
T |
16: 55,742,541 (GRCm39) |
C135* |
probably null |
Het |
Cog1 |
C |
T |
11: 113,547,304 (GRCm39) |
Q633* |
probably null |
Het |
Cyp4f40 |
A |
T |
17: 32,894,609 (GRCm39) |
|
probably benign |
Het |
Dennd2c |
T |
A |
3: 103,063,387 (GRCm39) |
M608K |
possibly damaging |
Het |
Enpp1 |
A |
G |
10: 24,517,859 (GRCm39) |
S855P |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,160,095 (GRCm39) |
I1457T |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,784,723 (GRCm39) |
L261Q |
probably damaging |
Het |
Flt1 |
G |
T |
5: 147,610,384 (GRCm39) |
S413* |
probably null |
Het |
Flt3 |
T |
G |
5: 147,281,362 (GRCm39) |
D790A |
probably damaging |
Het |
Gpat2 |
A |
G |
2: 127,276,152 (GRCm39) |
|
probably benign |
Het |
Gpr151 |
T |
C |
18: 42,711,835 (GRCm39) |
K281R |
probably benign |
Het |
Hoxa5 |
G |
A |
6: 52,180,790 (GRCm39) |
R181C |
probably damaging |
Het |
Irx4 |
C |
T |
13: 73,416,596 (GRCm39) |
R331W |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,432 (GRCm39) |
I155T |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,459,276 (GRCm39) |
R1944C |
probably damaging |
Het |
Obp2b |
A |
G |
2: 25,629,255 (GRCm39) |
N141S |
probably damaging |
Het |
Or4c10b |
T |
A |
2: 89,711,599 (GRCm39) |
V143E |
possibly damaging |
Het |
Or4c3d |
T |
A |
2: 89,881,786 (GRCm39) |
N294I |
probably damaging |
Het |
Papss2 |
T |
A |
19: 32,611,404 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
A |
T |
3: 78,990,533 (GRCm39) |
M915K |
possibly damaging |
Het |
Raver2 |
A |
C |
4: 100,953,499 (GRCm39) |
D89A |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Setd2 |
A |
G |
9: 110,379,644 (GRCm39) |
D1153G |
possibly damaging |
Het |
Slc25a12 |
C |
T |
2: 71,127,086 (GRCm39) |
G365E |
possibly damaging |
Het |
Slc35e4 |
A |
C |
11: 3,857,729 (GRCm39) |
V292G |
probably damaging |
Het |
Slc36a4 |
T |
C |
9: 15,638,237 (GRCm39) |
V221A |
probably damaging |
Het |
Slc7a14 |
C |
A |
3: 31,292,827 (GRCm39) |
A153S |
probably damaging |
Het |
Smc1b |
T |
C |
15: 84,991,204 (GRCm39) |
D658G |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tab3 |
A |
G |
X: 84,658,139 (GRCm39) |
N222S |
probably benign |
Het |
Tdrd6 |
T |
A |
17: 43,937,110 (GRCm39) |
T1313S |
probably damaging |
Het |
Tnfrsf1b |
A |
T |
4: 144,951,398 (GRCm39) |
C181S |
probably damaging |
Het |
Trdn |
A |
T |
10: 33,239,972 (GRCm39) |
|
probably null |
Het |
Trip12 |
A |
T |
1: 84,743,729 (GRCm39) |
V526E |
possibly damaging |
Het |
Trps1 |
T |
C |
15: 50,709,417 (GRCm39) |
D311G |
probably damaging |
Het |
Ttf1 |
A |
G |
2: 28,959,912 (GRCm39) |
I507V |
probably damaging |
Het |
Unc80 |
A |
C |
1: 66,569,222 (GRCm39) |
D959A |
probably damaging |
Het |
Unc93b1 |
T |
C |
19: 3,992,026 (GRCm39) |
|
probably benign |
Het |
Utrn |
A |
G |
10: 12,585,807 (GRCm39) |
F990S |
probably benign |
Het |
V1rd19 |
T |
C |
7: 23,702,825 (GRCm39) |
L97P |
probably damaging |
Het |
|
Other mutations in Fam149b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01153:Fam149b
|
APN |
14 |
20,427,949 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02323:Fam149b
|
APN |
14 |
20,413,369 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
2015-04-16 |