Incidental Mutation 'IGL03226:Fam131b'
ID |
414854 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam131b
|
Ensembl Gene |
ENSMUSG00000029861 |
Gene Name |
family with sequence similarity 131, member B |
Synonyms |
6330503C03Rik, 6530406I18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
IGL03226
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
42292246-42301577 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 42295888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 169
(M169I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031891]
[ENSMUST00000031894]
[ENSMUST00000095974]
[ENSMUST00000143278]
[ENSMUST00000164091]
[ENSMUST00000168660]
|
AlphaFold |
Q3TY60 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031891
AA Change: M157I
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000031891 Gene: ENSMUSG00000029861 AA Change: M157I
Domain | Start | End | E-Value | Type |
Pfam:FAM131
|
49 |
341 |
7.4e-128 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000031894
|
SMART Domains |
Protein: ENSMUSP00000031894 Gene: ENSMUSG00000029862
Domain | Start | End | E-Value | Type |
low complexity region
|
121 |
130 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
170 |
572 |
3.2e-87 |
PFAM |
Blast:CBS
|
612 |
662 |
1e-24 |
BLAST |
low complexity region
|
723 |
747 |
N/A |
INTRINSIC |
Blast:CBS
|
830 |
877 |
4e-19 |
BLAST |
low complexity region
|
928 |
950 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095974
AA Change: M141I
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000093670 Gene: ENSMUSG00000029861 AA Change: M141I
Domain | Start | End | E-Value | Type |
Pfam:FAM131
|
33 |
325 |
4.5e-128 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114684
|
SMART Domains |
Protein: ENSMUSP00000110332 Gene: ENSMUSG00000029862
Domain | Start | End | E-Value | Type |
Pfam:Voltage_CLC
|
3 |
254 |
2.6e-42 |
PFAM |
CBS
|
294 |
344 |
1.3e1 |
SMART |
low complexity region
|
405 |
429 |
N/A |
INTRINSIC |
Blast:CBS
|
480 |
524 |
2e-13 |
BLAST |
low complexity region
|
575 |
597 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143278
AA Change: M169I
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116779 Gene: ENSMUSG00000029861 AA Change: M169I
Domain | Start | End | E-Value | Type |
Pfam:FAM131
|
61 |
353 |
1.9e-113 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163936
|
SMART Domains |
Protein: ENSMUSP00000130148 Gene: ENSMUSG00000029862
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
101 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
141 |
261 |
1.2e-27 |
PFAM |
Pfam:Voltage_CLC
|
258 |
501 |
3.9e-44 |
PFAM |
PDB:2D4Z|B
|
520 |
807 |
2e-47 |
PDB |
Blast:CBS
|
541 |
591 |
2e-24 |
BLAST |
Blast:CBS
|
759 |
806 |
3e-19 |
BLAST |
low complexity region
|
857 |
879 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164091
|
SMART Domains |
Protein: ENSMUSP00000131354 Gene: ENSMUSG00000029862
Domain | Start | End | E-Value | Type |
low complexity region
|
121 |
130 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
170 |
256 |
2.9e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168660
|
SMART Domains |
Protein: ENSMUSP00000126045 Gene: ENSMUSG00000029862
Domain | Start | End | E-Value | Type |
low complexity region
|
88 |
97 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
136 |
257 |
1.1e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169024
|
SMART Domains |
Protein: ENSMUSP00000130968 Gene: ENSMUSG00000029862
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
101 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
141 |
261 |
2.9e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170028
|
SMART Domains |
Protein: ENSMUSP00000132154 Gene: ENSMUSG00000029862
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
101 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
141 |
235 |
8e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165780
|
SMART Domains |
Protein: ENSMUSP00000130550 Gene: ENSMUSG00000029862
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
101 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
141 |
227 |
9.7e-22 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
A |
G |
14: 70,395,058 (GRCm39) |
V32A |
probably damaging |
Het |
Als2 |
T |
C |
1: 59,225,679 (GRCm39) |
T944A |
probably benign |
Het |
Bcat2 |
T |
A |
7: 45,237,778 (GRCm39) |
V348E |
probably damaging |
Het |
Bnip2 |
A |
G |
9: 69,903,456 (GRCm39) |
D36G |
probably benign |
Het |
C2cd5 |
T |
A |
6: 143,018,292 (GRCm39) |
D310V |
possibly damaging |
Het |
Cltc |
G |
A |
11: 86,611,113 (GRCm39) |
T582M |
probably damaging |
Het |
Cplx3 |
A |
T |
9: 57,517,290 (GRCm39) |
Y365N |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,125,918 (GRCm39) |
H1896R |
probably benign |
Het |
Efcab5 |
T |
C |
11: 77,028,501 (GRCm39) |
R413G |
possibly damaging |
Het |
Fam241b |
A |
G |
10: 61,945,671 (GRCm39) |
S52P |
probably benign |
Het |
Gpd2 |
G |
A |
2: 57,194,498 (GRCm39) |
|
probably null |
Het |
Gucy1a1 |
T |
A |
3: 82,026,331 (GRCm39) |
Q41L |
probably benign |
Het |
Ifna16 |
T |
C |
4: 88,594,741 (GRCm39) |
D118G |
probably benign |
Het |
Kcnn1 |
T |
C |
8: 71,299,135 (GRCm39) |
|
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Lyst |
A |
T |
13: 13,884,144 (GRCm39) |
H2984L |
probably benign |
Het |
Myh7b |
C |
T |
2: 155,462,403 (GRCm39) |
Q369* |
probably null |
Het |
Nalcn |
A |
C |
14: 123,518,527 (GRCm39) |
W1671G |
probably benign |
Het |
Ndrg2 |
G |
A |
14: 52,144,026 (GRCm39) |
|
probably benign |
Het |
Nfia |
C |
A |
4: 97,951,286 (GRCm39) |
P371Q |
probably damaging |
Het |
Or10d5 |
A |
C |
9: 39,861,719 (GRCm39) |
|
probably null |
Het |
Pcdhb22 |
A |
G |
18: 37,652,009 (GRCm39) |
D159G |
probably damaging |
Het |
Plekhm3 |
A |
T |
1: 64,960,959 (GRCm39) |
D432E |
possibly damaging |
Het |
Pramel17 |
T |
A |
4: 101,692,594 (GRCm39) |
T469S |
probably benign |
Het |
Rab2a |
A |
G |
4: 8,606,448 (GRCm39) |
N195S |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,173,308 (GRCm39) |
Y1764H |
possibly damaging |
Het |
Scap |
A |
G |
9: 110,213,335 (GRCm39) |
T1127A |
possibly damaging |
Het |
Shld2 |
T |
C |
14: 33,990,328 (GRCm39) |
T193A |
probably benign |
Het |
Slc45a2 |
A |
G |
15: 11,022,278 (GRCm39) |
D340G |
probably damaging |
Het |
Tbc1d23 |
A |
T |
16: 57,034,625 (GRCm39) |
L58Q |
probably damaging |
Het |
Tmcc1 |
T |
C |
6: 116,110,937 (GRCm39) |
T119A |
probably damaging |
Het |
Tnfsf10 |
C |
A |
3: 27,389,597 (GRCm39) |
Y219* |
probably null |
Het |
Traip |
G |
A |
9: 107,848,192 (GRCm39) |
R437Q |
probably damaging |
Het |
Tyw3 |
T |
C |
3: 154,293,187 (GRCm39) |
T163A |
possibly damaging |
Het |
|
Other mutations in Fam131b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00427:Fam131b
|
APN |
6 |
42,295,895 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01328:Fam131b
|
APN |
6 |
42,295,206 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02948:Fam131b
|
APN |
6 |
42,297,926 (GRCm39) |
splice site |
probably benign |
|
R0027:Fam131b
|
UTSW |
6 |
42,295,182 (GRCm39) |
missense |
probably benign |
0.01 |
R0027:Fam131b
|
UTSW |
6 |
42,295,182 (GRCm39) |
missense |
probably benign |
0.01 |
R1730:Fam131b
|
UTSW |
6 |
42,295,514 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1783:Fam131b
|
UTSW |
6 |
42,295,514 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1858:Fam131b
|
UTSW |
6 |
42,295,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Fam131b
|
UTSW |
6 |
42,297,818 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1994:Fam131b
|
UTSW |
6 |
42,297,818 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4275:Fam131b
|
UTSW |
6 |
42,298,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R4636:Fam131b
|
UTSW |
6 |
42,297,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R5876:Fam131b
|
UTSW |
6 |
42,298,182 (GRCm39) |
critical splice donor site |
probably null |
|
R5877:Fam131b
|
UTSW |
6 |
42,297,913 (GRCm39) |
missense |
probably benign |
0.09 |
R5979:Fam131b
|
UTSW |
6 |
42,298,905 (GRCm39) |
missense |
probably damaging |
0.98 |
R7725:Fam131b
|
UTSW |
6 |
42,295,476 (GRCm39) |
missense |
probably benign |
0.01 |
R9023:Fam131b
|
UTSW |
6 |
42,298,946 (GRCm39) |
missense |
possibly damaging |
0.73 |
Z1177:Fam131b
|
UTSW |
6 |
42,295,854 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Posted On |
2016-08-02 |