Incidental Mutation 'IGL02352:Fam227b'
| ID |
289546 |
| 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 # |
IGL02352
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
125983483-126152004 bp(-) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 126146254 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110446]
[ENSMUST00000110448]
[ENSMUST00000178118]
|
| AlphaFold |
Q9D518 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110446
|
| SMART Domains |
Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
| 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 benign
Transcript: ENSMUST00000110448
|
| SMART Domains |
Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
| 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 benign
Transcript: ENSMUST00000178118
|
| SMART Domains |
Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
C |
12: 72,895,055 (GRCm38) |
|
probably null |
Het |
| Abca5 |
T |
A |
11: 110,275,330 (GRCm38) |
N1540I |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,343,728 (GRCm38) |
|
probably null |
Het |
| Aldh2 |
T |
C |
5: 121,575,897 (GRCm38) |
E128G |
probably null |
Het |
| Anln |
A |
G |
9: 22,368,412 (GRCm38) |
V494A |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,884,943 (GRCm38) |
L50* |
probably null |
Het |
| Atp13a3 |
A |
G |
16: 30,351,084 (GRCm38) |
I392T |
probably damaging |
Het |
| C1qtnf5 |
A |
G |
9: 44,108,334 (GRCm38) |
E85G |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,093,252 (GRCm38) |
|
probably benign |
Het |
| Ccdc150 |
G |
A |
1: 54,272,521 (GRCm38) |
R222H |
probably benign |
Het |
| Cdk5rap3 |
A |
T |
11: 96,916,177 (GRCm38) |
I9N |
probably damaging |
Het |
| Cmip |
A |
T |
8: 117,411,255 (GRCm38) |
|
probably benign |
Het |
| Cyp21a1 |
A |
G |
17: 34,804,222 (GRCm38) |
Y60H |
probably damaging |
Het |
| Cyp2d11 |
A |
G |
15: 82,393,920 (GRCm38) |
W10R |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,505,661 (GRCm38) |
Y2076H |
probably damaging |
Het |
| Egflam |
T |
C |
15: 7,234,225 (GRCm38) |
N748S |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,563,112 (GRCm38) |
I654N |
probably damaging |
Het |
| Gm17018 |
G |
T |
19: 45,577,054 (GRCm38) |
A156S |
probably benign |
Het |
| Gm17727 |
A |
T |
9: 35,777,884 (GRCm38) |
M1K |
probably null |
Het |
| Hpf1 |
A |
G |
8: 60,896,802 (GRCm38) |
I155V |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,480,443 (GRCm38) |
N228K |
probably benign |
Het |
| Igkv3-2 |
T |
C |
6: 70,698,490 (GRCm38) |
L8P |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,101,960 (GRCm38) |
F734L |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,243,501 (GRCm38) |
Y276C |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,680,470 (GRCm38) |
S178T |
possibly damaging |
Het |
| March6 |
C |
T |
15: 31,509,759 (GRCm38) |
C28Y |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 85,355,302 (GRCm38) |
T356A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,001,027 (GRCm38) |
E6893G |
probably benign |
Het |
| Olfr166 |
T |
C |
16: 19,487,177 (GRCm38) |
L113P |
probably damaging |
Het |
| Pgap2 |
G |
T |
7: 102,236,139 (GRCm38) |
V71F |
probably damaging |
Het |
| Prob1 |
T |
G |
18: 35,652,840 (GRCm38) |
E787A |
possibly damaging |
Het |
| Psmd2 |
C |
A |
16: 20,656,941 (GRCm38) |
D430E |
probably benign |
Het |
| Reln |
C |
A |
5: 22,039,565 (GRCm38) |
G805V |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,257,820 (GRCm38) |
|
probably benign |
Het |
| Sgsm2 |
G |
T |
11: 74,892,074 (GRCm38) |
|
probably benign |
Het |
| Slc38a9 |
A |
G |
13: 112,690,186 (GRCm38) |
I153V |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,685,525 (GRCm38) |
D628E |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,628,802 (GRCm38) |
S145P |
probably benign |
Het |
| Sv2b |
T |
C |
7: 75,136,449 (GRCm38) |
T408A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,403,925 (GRCm38) |
C1626R |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,632,048 (GRCm38) |
T217M |
possibly damaging |
Het |
| Wdr95 |
G |
A |
5: 149,580,619 (GRCm38) |
V155M |
probably damaging |
Het |
| Wsb1 |
G |
A |
11: 79,251,012 (GRCm38) |
L60F |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 107,540,646 (GRCm38) |
R297* |
probably null |
Het |
| Xkr6 |
T |
C |
14: 63,819,707 (GRCm38) |
Y356H |
unknown |
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 |
|
|
IGL02095:Fam227b
|
APN |
2 |
126,101,004 (GRCm38) |
missense |
probably damaging |
0.97 |
|
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