Incidental Mutation 'IGL03064:Fam227b'
ID |
409624 |
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 # |
IGL03064
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
125825403-125993924 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 125968762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110446]
[ENSMUST00000110446]
[ENSMUST00000110448]
[ENSMUST00000110448]
[ENSMUST00000178118]
[ENSMUST00000178118]
|
AlphaFold |
Q9D518 |
Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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 null
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 |
|
Predicted Effect |
probably null
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 |
Acsm2 |
A |
G |
7: 119,174,864 (GRCm39) |
T210A |
probably damaging |
Het |
Adgb |
T |
A |
10: 10,276,316 (GRCm39) |
T351S |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,018,755 (GRCm39) |
H1112R |
probably damaging |
Het |
Angptl6 |
A |
T |
9: 20,786,939 (GRCm39) |
Y261* |
probably null |
Het |
Arhgef10l |
A |
C |
4: 140,306,590 (GRCm39) |
F395V |
probably damaging |
Het |
Bub1 |
T |
C |
2: 127,659,373 (GRCm39) |
N328S |
probably benign |
Het |
Cacna1s |
A |
G |
1: 136,039,731 (GRCm39) |
N1186D |
probably damaging |
Het |
Cacna2d2 |
C |
A |
9: 107,386,474 (GRCm39) |
F200L |
probably damaging |
Het |
Calca |
G |
A |
7: 114,232,919 (GRCm39) |
S110L |
probably benign |
Het |
Ccdc120 |
G |
A |
X: 7,601,601 (GRCm39) |
P263S |
probably benign |
Het |
Dcaf8l |
A |
G |
X: 88,448,857 (GRCm39) |
V424A |
possibly damaging |
Het |
Dgki |
C |
A |
6: 37,126,599 (GRCm39) |
|
probably benign |
Het |
Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
F5 |
A |
T |
1: 164,023,163 (GRCm39) |
T1574S |
probably benign |
Het |
Gm20521 |
T |
A |
14: 55,134,680 (GRCm39) |
S301T |
possibly damaging |
Het |
Hsd17b7 |
A |
T |
1: 169,787,287 (GRCm39) |
I239N |
probably benign |
Het |
Itih1 |
C |
A |
14: 30,663,514 (GRCm39) |
E163D |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,086,099 (GRCm39) |
Y1446F |
probably benign |
Het |
Lama3 |
C |
T |
18: 12,572,406 (GRCm39) |
T537M |
possibly damaging |
Het |
Lars1 |
G |
T |
18: 42,354,636 (GRCm39) |
Y770* |
probably null |
Het |
Lrp2 |
A |
T |
2: 69,313,477 (GRCm39) |
V2418E |
probably damaging |
Het |
Maip1 |
A |
G |
1: 57,446,359 (GRCm39) |
E143G |
probably damaging |
Het |
Mast4 |
G |
T |
13: 102,897,472 (GRCm39) |
S739* |
probably null |
Het |
Mctp1 |
C |
T |
13: 76,949,632 (GRCm39) |
Q555* |
probably null |
Het |
Med14 |
A |
T |
X: 12,613,742 (GRCm39) |
D291E |
probably benign |
Het |
Mgat2 |
T |
A |
12: 69,231,777 (GRCm39) |
V117D |
probably damaging |
Het |
Mllt1 |
A |
T |
17: 57,207,094 (GRCm39) |
M250K |
probably benign |
Het |
Myt1 |
A |
C |
2: 181,439,594 (GRCm39) |
Y372S |
probably benign |
Het |
Naa16 |
T |
A |
14: 79,577,068 (GRCm39) |
Q735H |
probably damaging |
Het |
Ncf4 |
A |
G |
15: 78,135,102 (GRCm39) |
Y53C |
probably damaging |
Het |
Nlrp4a |
A |
T |
7: 26,148,934 (GRCm39) |
K180N |
probably benign |
Het |
Nova1 |
A |
G |
12: 46,746,861 (GRCm39) |
V472A |
probably damaging |
Het |
Nup153 |
T |
C |
13: 46,847,315 (GRCm39) |
T705A |
probably benign |
Het |
Odf2 |
T |
A |
2: 29,791,091 (GRCm39) |
N79K |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,768 (GRCm39) |
I101T |
possibly damaging |
Het |
Pard3b |
G |
A |
1: 62,237,930 (GRCm39) |
|
probably benign |
Het |
Pde8b |
G |
A |
13: 95,182,906 (GRCm39) |
T388I |
probably damaging |
Het |
Phactr2 |
A |
G |
10: 13,264,457 (GRCm39) |
|
probably benign |
Het |
Phf12 |
T |
C |
11: 77,874,186 (GRCm39) |
S17P |
probably damaging |
Het |
Psmg2 |
T |
A |
18: 67,779,102 (GRCm39) |
L90* |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,658,788 (GRCm39) |
|
probably null |
Het |
Sec23b |
T |
C |
2: 144,423,952 (GRCm39) |
F534L |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,483,686 (GRCm39) |
|
probably benign |
Het |
Slc30a5 |
A |
T |
13: 100,947,818 (GRCm39) |
L463Q |
probably damaging |
Het |
Slc35g3 |
T |
C |
11: 69,651,895 (GRCm39) |
H52R |
possibly damaging |
Het |
Slc6a3 |
G |
T |
13: 73,719,585 (GRCm39) |
S538I |
probably damaging |
Het |
Socs2 |
G |
T |
10: 95,248,713 (GRCm39) |
C133* |
probably null |
Het |
Srebf2 |
G |
A |
15: 82,076,423 (GRCm39) |
R691H |
probably benign |
Het |
Tlr11 |
C |
A |
14: 50,598,557 (GRCm39) |
P181Q |
probably damaging |
Het |
Tlr7 |
T |
A |
X: 166,089,203 (GRCm39) |
Q761L |
possibly damaging |
Het |
Tmem120b |
T |
A |
5: 123,240,336 (GRCm39) |
Y90N |
possibly damaging |
Het |
Tpcn1 |
T |
C |
5: 120,675,631 (GRCm39) |
I778V |
possibly damaging |
Het |
Ttll8 |
T |
C |
15: 88,803,797 (GRCm39) |
T385A |
probably benign |
Het |
Vmn1r223 |
G |
A |
13: 23,434,153 (GRCm39) |
R249H |
probably damaging |
Het |
Vmn2r53 |
A |
T |
7: 12,334,937 (GRCm39) |
I241N |
possibly damaging |
Het |
Wdfy3 |
T |
C |
5: 102,083,863 (GRCm39) |
R808G |
probably damaging |
Het |
Zfyve26 |
T |
A |
12: 79,308,565 (GRCm39) |
S231C |
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 |
IGL02040:Fam227b
|
APN |
2 |
125,963,004 (GRCm39) |
splice site |
probably benign |
|
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 |
|
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 |
2016-08-02 |