Incidental Mutation 'IGL02040:Fam227b'
| ID |
184717 |
| 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: 0.072)
|
| Stock # |
IGL02040
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
125825403-125993924 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 125963004 bp (GRCm39)
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
T |
G |
5: 3,630,405 (GRCm39) |
F107C |
probably damaging |
Het |
| 4930590J08Rik |
T |
C |
6: 91,895,091 (GRCm39) |
V262A |
probably benign |
Het |
| A830018L16Rik |
T |
A |
1: 12,003,822 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,413,424 (GRCm39) |
V536A |
possibly damaging |
Het |
| Ano6 |
T |
G |
15: 95,853,825 (GRCm39) |
I667R |
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,545,353 (GRCm39) |
|
probably null |
Het |
| Azin2 |
G |
T |
4: 128,844,451 (GRCm39) |
L37M |
possibly damaging |
Het |
| Caap1 |
A |
G |
4: 94,438,667 (GRCm39) |
I174T |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,616,585 (GRCm39) |
V46A |
probably benign |
Het |
| Chrna6 |
T |
C |
8: 27,897,289 (GRCm39) |
D196G |
probably damaging |
Het |
| Col19a1 |
A |
G |
1: 24,351,126 (GRCm39) |
|
probably null |
Het |
| Defb22 |
G |
T |
2: 152,331,976 (GRCm39) |
T19K |
possibly damaging |
Het |
| Dhx36 |
T |
C |
3: 62,408,436 (GRCm39) |
D134G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,603,558 (GRCm39) |
I2211V |
probably benign |
Het |
| Ecel1 |
A |
C |
1: 87,082,645 (GRCm39) |
C23G |
probably benign |
Het |
| Elmod2 |
A |
G |
8: 84,048,126 (GRCm39) |
V112A |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,531,754 (GRCm39) |
K510E |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,081,694 (GRCm39) |
S1113R |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 139,971,181 (GRCm39) |
D653E |
possibly damaging |
Het |
| Exd1 |
A |
G |
2: 119,370,546 (GRCm39) |
V54A |
possibly damaging |
Het |
| Fnbp1l |
A |
G |
3: 122,364,602 (GRCm39) |
|
probably benign |
Het |
| Foxf1 |
A |
G |
8: 121,812,084 (GRCm39) |
N316S |
probably damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,218,495 (GRCm39) |
V426A |
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,274,844 (GRCm39) |
|
probably null |
Het |
| Hnrnpab |
A |
G |
11: 51,492,622 (GRCm39) |
|
probably benign |
Het |
| Hsf4 |
T |
G |
8: 106,002,299 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
G |
T |
1: 37,435,166 (GRCm39) |
R179L |
probably damaging |
Het |
| Jakmip2 |
T |
A |
18: 43,704,919 (GRCm39) |
M361L |
probably benign |
Het |
| Kif15 |
A |
C |
9: 122,846,450 (GRCm39) |
Y117S |
probably damaging |
Het |
| Lnpep |
T |
C |
17: 17,765,167 (GRCm39) |
H761R |
probably benign |
Het |
| Masp2 |
G |
T |
4: 148,688,270 (GRCm39) |
C180F |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,910,613 (GRCm39) |
E261G |
probably damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,013,926 (GRCm39) |
I211V |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,024,915 (GRCm39) |
|
probably benign |
Het |
| Or4c121 |
A |
G |
2: 89,023,907 (GRCm39) |
I157T |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,652,614 (GRCm39) |
N44S |
probably damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,910 (GRCm39) |
|
probably benign |
Het |
| Or8j3c |
A |
G |
2: 86,253,336 (GRCm39) |
I228T |
probably damaging |
Het |
| Oxct1 |
G |
A |
15: 4,056,250 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,824,516 (GRCm39) |
|
probably benign |
Het |
| Plbd2 |
C |
T |
5: 120,625,507 (GRCm39) |
S430N |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,270,110 (GRCm39) |
K63R |
probably benign |
Het |
| Pramel19 |
G |
A |
4: 101,798,331 (GRCm39) |
V101I |
possibly damaging |
Het |
| Proc |
A |
T |
18: 32,267,913 (GRCm39) |
V75E |
probably benign |
Het |
| Ptprt |
T |
C |
2: 162,079,992 (GRCm39) |
Y269C |
probably damaging |
Het |
| Rcc2 |
T |
C |
4: 140,447,902 (GRCm39) |
V476A |
possibly damaging |
Het |
| Recql5 |
A |
G |
11: 115,823,623 (GRCm39) |
V41A |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 51,992,018 (GRCm39) |
I1402F |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,358,476 (GRCm39) |
T194I |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,119,452 (GRCm39) |
|
probably benign |
Het |
| Skint4 |
T |
C |
4: 112,003,679 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
A |
2: 29,903,725 (GRCm39) |
S1545T |
probably benign |
Het |
| Tpra1 |
A |
T |
6: 88,887,164 (GRCm39) |
H168L |
possibly damaging |
Het |
| Trim47 |
T |
C |
11: 115,998,734 (GRCm39) |
E295G |
probably damaging |
Het |
| Ttc28 |
T |
A |
5: 111,040,802 (GRCm39) |
C63* |
probably null |
Het |
| Usp45 |
G |
A |
4: 21,830,433 (GRCm39) |
R696H |
probably benign |
Het |
| Zfyve27 |
G |
A |
19: 42,167,830 (GRCm39) |
R124Q |
probably damaging |
Het |
|
| Other mutations in Fam227b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Fam227b
|
APN |
2 |
125,986,245 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00970:Fam227b
|
APN |
2 |
125,968,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02095:Fam227b
|
APN |
2 |
125,942,924 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02352:Fam227b
|
APN |
2 |
125,988,174 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02359:Fam227b
|
APN |
2 |
125,988,174 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02506:Fam227b
|
APN |
2 |
125,845,831 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02717:Fam227b
|
APN |
2 |
125,845,763 (GRCm39) |
missense |
probably null |
0.97 |
|
IGL02933:Fam227b
|
APN |
2 |
125,965,908 (GRCm39) |
splice site |
probably null |
|
|
IGL03064:Fam227b
|
APN |
2 |
125,968,762 (GRCm39) |
splice site |
probably null |
|
|
IGL03086:Fam227b
|
APN |
2 |
125,960,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03198:Fam227b
|
APN |
2 |
125,966,499 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03256:Fam227b
|
APN |
2 |
125,830,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03368:Fam227b
|
APN |
2 |
125,960,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dana
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Fam227b
|
UTSW |
2 |
125,965,994 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0071:Fam227b
|
UTSW |
2 |
125,965,994 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0110:Fam227b
|
UTSW |
2 |
125,942,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Fam227b
|
UTSW |
2 |
125,966,523 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0377:Fam227b
|
UTSW |
2 |
125,966,920 (GRCm39) |
splice site |
probably benign |
|
|
R0499:Fam227b
|
UTSW |
2 |
125,942,829 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1240:Fam227b
|
UTSW |
2 |
125,966,505 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1356:Fam227b
|
UTSW |
2 |
125,960,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Fam227b
|
UTSW |
2 |
125,845,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1404:Fam227b
|
UTSW |
2 |
125,845,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2055:Fam227b
|
UTSW |
2 |
125,942,874 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2884:Fam227b
|
UTSW |
2 |
125,942,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3124:Fam227b
|
UTSW |
2 |
125,966,006 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3125:Fam227b
|
UTSW |
2 |
125,966,006 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3937:Fam227b
|
UTSW |
2 |
125,968,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4408:Fam227b
|
UTSW |
2 |
125,958,045 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4454:Fam227b
|
UTSW |
2 |
125,988,188 (GRCm39) |
unclassified |
probably benign |
|
|
R4455:Fam227b
|
UTSW |
2 |
125,988,188 (GRCm39) |
unclassified |
probably benign |
|
|
R4457:Fam227b
|
UTSW |
2 |
125,988,188 (GRCm39) |
unclassified |
probably benign |
|
|
R4558:Fam227b
|
UTSW |
2 |
125,968,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4661:Fam227b
|
UTSW |
2 |
125,849,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4809:Fam227b
|
UTSW |
2 |
125,958,045 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4810:Fam227b
|
UTSW |
2 |
125,829,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4989:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5014:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Fam227b
|
UTSW |
2 |
125,968,851 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5797:Fam227b
|
UTSW |
2 |
125,849,254 (GRCm39) |
missense |
probably benign |
|
|
R6056:Fam227b
|
UTSW |
2 |
125,962,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Fam227b
|
UTSW |
2 |
125,968,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6471:Fam227b
|
UTSW |
2 |
125,962,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6660:Fam227b
|
UTSW |
2 |
125,986,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Fam227b
|
UTSW |
2 |
125,968,896 (GRCm39) |
nonsense |
probably null |
|
|
R7136:Fam227b
|
UTSW |
2 |
125,965,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7410:Fam227b
|
UTSW |
2 |
125,960,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8417:Fam227b
|
UTSW |
2 |
125,962,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Fam227b
|
UTSW |
2 |
125,830,928 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8731:Fam227b
|
UTSW |
2 |
125,968,898 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8986:Fam227b
|
UTSW |
2 |
125,958,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation