Incidental Mutation 'IGL02095:Fam227b'
| ID |
279576 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam227b
|
| Ensembl Gene |
ENSMUSG00000027209 |
| Gene Name |
family with sequence similarity 227, member B |
| Synonyms |
4930525F21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL02095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
125983483-126152004 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126101004 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 291
(H291L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110446]
[ENSMUST00000110448]
[ENSMUST00000178118]
|
| AlphaFold |
Q9D518 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110446
AA Change: H291L
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: H291L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
Pfam:FWWh
|
136 |
293 |
7.6e-54 |
PFAM |
|
coiled coil region
|
427 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
523 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110448
AA Change: H291L
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: H291L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
Pfam:FWWh
|
136 |
293 |
3.8e-54 |
PFAM |
|
coiled coil region
|
427 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
523 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156413
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178118
AA Change: H291L
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: H291L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
Pfam:FWWh
|
140 |
293 |
7.2e-50 |
PFAM |
|
coiled coil region
|
427 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
523 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,661,626 |
Q794L |
probably benign |
Het |
| Acrbp |
C |
A |
6: 125,053,956 |
Y313* |
probably null |
Het |
| Adam9 |
A |
G |
8: 24,996,729 |
S178P |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,579,790 |
I244V |
possibly damaging |
Het |
| Atad5 |
A |
G |
11: 80,094,707 |
S207G |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,807,393 |
D880G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,427,310 |
I573T |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,603,845 |
D494G |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 122,633,493 |
E438G |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,411,219 |
D37G |
possibly damaging |
Het |
| Cndp2 |
T |
C |
18: 84,681,032 |
E36G |
possibly damaging |
Het |
| Ddx54 |
G |
A |
5: 120,623,791 |
G544D |
possibly damaging |
Het |
| Dok2 |
G |
T |
14: 70,777,861 |
G343W |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,447,703 |
N87D |
probably damaging |
Het |
| Ehf |
T |
C |
2: 103,266,991 |
Y237C |
probably damaging |
Het |
| Exoc3 |
T |
C |
13: 74,180,536 |
T569A |
probably damaging |
Het |
| Fam151a |
T |
C |
4: 106,747,875 |
V478A |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,502,601 |
T186A |
unknown |
Het |
| Ggnbp2 |
T |
C |
11: 84,833,128 |
Y660C |
probably damaging |
Het |
| Ggt5 |
G |
A |
10: 75,608,803 |
M318I |
probably benign |
Het |
| Gprc5d |
A |
G |
6: 135,116,177 |
I244T |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,232,787 |
S429P |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,702,005 |
D1341G |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,700,027 |
|
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,541,671 |
D173G |
probably damaging |
Het |
| Lrrc27 |
C |
T |
7: 139,230,253 |
T380I |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,629,404 |
N125S |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,544,541 |
R2217C |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,411,231 |
R866W |
probably damaging |
Het |
| Olfr1424 |
C |
A |
19: 12,059,549 |
V68F |
probably benign |
Het |
| Olfr982 |
T |
A |
9: 40,074,671 |
Y125* |
probably null |
Het |
| P2ry6 |
T |
A |
7: 100,938,864 |
D96V |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,756,156 |
S237T |
probably benign |
Het |
| Pck2 |
G |
A |
14: 55,542,510 |
R72Q |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 116,346,188 |
R1461Q |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,454,610 |
V1130A |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,327,006 |
D198E |
probably benign |
Het |
| Rasa1 |
T |
A |
13: 85,216,155 |
E1022D |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,671,974 |
Y507H |
probably damaging |
Het |
| Rbm26 |
A |
T |
14: 105,144,260 |
I488K |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,759,759 |
E1170D |
probably damaging |
Het |
| Sdk2 |
T |
G |
11: 113,834,830 |
T1198P |
probably damaging |
Het |
| Sema3g |
C |
T |
14: 31,227,824 |
T654I |
probably benign |
Het |
| Spag9 |
A |
T |
11: 94,108,582 |
H1108L |
probably damaging |
Het |
| Tcrg-C2 |
T |
A |
13: 19,307,410 |
|
probably benign |
Het |
| Ubap2 |
T |
C |
4: 41,229,709 |
N142S |
probably benign |
Het |
| Usp33 |
T |
C |
3: 152,381,794 |
F699L |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,873,140 |
|
probably benign |
Het |
|
| Other mutations in Fam227b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Fam227b
|
APN |
2 |
126,144,325 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL00970:Fam227b
|
APN |
2 |
126,127,060 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02040:Fam227b
|
APN |
2 |
126,121,084 (GRCm38) |
splice site |
probably benign |
|
|
IGL02352:Fam227b
|
APN |
2 |
126,146,254 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02359:Fam227b
|
APN |
2 |
126,146,254 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02506:Fam227b
|
APN |
2 |
126,003,911 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL02717:Fam227b
|
APN |
2 |
126,003,843 (GRCm38) |
missense |
probably null |
0.97 |
|
IGL02933:Fam227b
|
APN |
2 |
126,123,988 (GRCm38) |
splice site |
probably null |
|
|
IGL03064:Fam227b
|
APN |
2 |
126,126,842 (GRCm38) |
splice site |
probably null |
|
|
IGL03086:Fam227b
|
APN |
2 |
126,119,031 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03198:Fam227b
|
APN |
2 |
126,124,579 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03256:Fam227b
|
APN |
2 |
125,989,003 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03368:Fam227b
|
APN |
2 |
126,119,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
dana
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0071:Fam227b
|
UTSW |
2 |
126,124,074 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0071:Fam227b
|
UTSW |
2 |
126,124,074 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0110:Fam227b
|
UTSW |
2 |
126,100,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0140:Fam227b
|
UTSW |
2 |
126,124,603 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0377:Fam227b
|
UTSW |
2 |
126,125,000 (GRCm38) |
splice site |
probably benign |
|
|
R0499:Fam227b
|
UTSW |
2 |
126,100,909 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1240:Fam227b
|
UTSW |
2 |
126,124,585 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1356:Fam227b
|
UTSW |
2 |
126,119,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1404:Fam227b
|
UTSW |
2 |
126,003,839 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1404:Fam227b
|
UTSW |
2 |
126,003,839 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2055:Fam227b
|
UTSW |
2 |
126,100,954 (GRCm38) |
missense |
probably benign |
0.13 |
|
R2884:Fam227b
|
UTSW |
2 |
126,100,926 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3124:Fam227b
|
UTSW |
2 |
126,124,086 (GRCm38) |
missense |
probably benign |
0.36 |
|
R3125:Fam227b
|
UTSW |
2 |
126,124,086 (GRCm38) |
missense |
probably benign |
0.36 |
|
R3937:Fam227b
|
UTSW |
2 |
126,127,060 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4408:Fam227b
|
UTSW |
2 |
126,116,125 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4454:Fam227b
|
UTSW |
2 |
126,146,268 (GRCm38) |
unclassified |
probably benign |
|
|
R4455:Fam227b
|
UTSW |
2 |
126,146,268 (GRCm38) |
unclassified |
probably benign |
|
|
R4457:Fam227b
|
UTSW |
2 |
126,146,268 (GRCm38) |
unclassified |
probably benign |
|
|
R4558:Fam227b
|
UTSW |
2 |
126,127,043 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4661:Fam227b
|
UTSW |
2 |
126,007,310 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4809:Fam227b
|
UTSW |
2 |
126,116,125 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4810:Fam227b
|
UTSW |
2 |
125,987,939 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4989:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5011:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5013:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5014:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5133:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5184:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5431:Fam227b
|
UTSW |
2 |
126,126,931 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5797:Fam227b
|
UTSW |
2 |
126,007,334 (GRCm38) |
missense |
probably benign |
|
|
R6056:Fam227b
|
UTSW |
2 |
126,121,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6218:Fam227b
|
UTSW |
2 |
126,126,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6471:Fam227b
|
UTSW |
2 |
126,121,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6660:Fam227b
|
UTSW |
2 |
126,144,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6734:Fam227b
|
UTSW |
2 |
126,126,976 (GRCm38) |
nonsense |
probably null |
|
|
R7136:Fam227b
|
UTSW |
2 |
126,124,028 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7410:Fam227b
|
UTSW |
2 |
126,119,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8417:Fam227b
|
UTSW |
2 |
126,121,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8679:Fam227b
|
UTSW |
2 |
125,989,008 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8731:Fam227b
|
UTSW |
2 |
126,126,978 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8986:Fam227b
|
UTSW |
2 |
126,116,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation