Incidental Mutation 'R0071:Fam227b'
| ID |
17250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam227b
|
| Ensembl Gene |
ENSMUSG00000027209 |
| Gene Name |
family with sequence similarity 227, member B |
| Synonyms |
4930525F21Rik |
| MMRRC Submission |
038362-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0071 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
125825403-125993924 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125965994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 144
(N144Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110446]
[ENSMUST00000110448]
[ENSMUST00000178118]
|
| AlphaFold |
Q9D518 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110446
AA Change: N144Y
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: N144Y
| 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
AA Change: N144Y
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: N144Y
| 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
AA Change: N144Y
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: N144Y
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 88.2%
- 3x: 84.4%
- 10x: 70.8%
- 20x: 43.5%
|
| Validation Efficiency |
93% (94/101) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,027,915 (GRCm39) |
|
probably benign |
Het |
| Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
| Aox3 |
T |
A |
1: 58,211,050 (GRCm39) |
C931* |
probably null |
Het |
| Apob |
T |
A |
12: 8,052,111 (GRCm39) |
V1184E |
probably damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| Bccip |
A |
G |
7: 133,315,960 (GRCm39) |
D72G |
probably damaging |
Het |
| Bckdha |
A |
T |
7: 25,329,868 (GRCm39) |
|
probably null |
Het |
| Bmerb1 |
A |
G |
16: 13,906,818 (GRCm39) |
D11G |
probably damaging |
Het |
| Cald1 |
C |
T |
6: 34,735,069 (GRCm39) |
|
probably benign |
Het |
| Cdk11b |
T |
C |
4: 155,733,880 (GRCm39) |
|
probably benign |
Het |
| Cebpe |
G |
T |
14: 54,948,061 (GRCm39) |
R261S |
probably damaging |
Het |
| Cep95 |
C |
T |
11: 106,681,554 (GRCm39) |
|
probably benign |
Het |
| Chi3l1 |
T |
C |
1: 134,113,017 (GRCm39) |
Y150H |
probably benign |
Het |
| Chrnd |
T |
C |
1: 87,120,559 (GRCm39) |
|
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,275,407 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,488,391 (GRCm39) |
L93Q |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,460,217 (GRCm39) |
T3525A |
probably benign |
Het |
| Fhod1 |
A |
T |
8: 106,063,857 (GRCm39) |
|
probably null |
Het |
| Folr1 |
A |
G |
7: 101,513,130 (GRCm39) |
|
probably null |
Het |
| Glis3 |
C |
T |
19: 28,241,255 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,735,865 (GRCm39) |
R1704Q |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,878,200 (GRCm39) |
Y866C |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,219,755 (GRCm39) |
W1631* |
probably null |
Het |
| Limk1 |
G |
T |
5: 134,690,245 (GRCm39) |
Q104K |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,152,163 (GRCm39) |
K1130R |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 117,982,701 (GRCm39) |
E112G |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,706,037 (GRCm39) |
Y1836N |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,421,388 (GRCm39) |
Y118C |
probably benign |
Het |
| Or13a20 |
A |
T |
7: 140,232,170 (GRCm39) |
I93F |
probably benign |
Het |
| Or2d36 |
A |
G |
7: 106,746,919 (GRCm39) |
Y132C |
probably damaging |
Het |
| Osbpl11 |
T |
C |
16: 33,034,708 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
A |
T |
9: 98,926,918 (GRCm39) |
D886E |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,271,568 (GRCm39) |
Y2995F |
probably benign |
Het |
| Raver2 |
C |
T |
4: 100,977,642 (GRCm39) |
|
probably benign |
Het |
| Sec22c |
A |
G |
9: 121,521,979 (GRCm39) |
F44L |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,059,643 (GRCm39) |
Y1006H |
possibly damaging |
Het |
| Sobp |
A |
G |
10: 43,033,993 (GRCm39) |
L111P |
probably damaging |
Het |
| Sparcl1 |
G |
T |
5: 104,233,707 (GRCm39) |
Y547* |
probably null |
Het |
| Spata31d1b |
G |
A |
13: 59,863,163 (GRCm39) |
A104T |
probably benign |
Het |
| Spsb3 |
A |
G |
17: 25,106,878 (GRCm39) |
D184G |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,893,354 (GRCm39) |
K1148* |
probably null |
Het |
| Tdrd12 |
A |
G |
7: 35,228,671 (GRCm39) |
V17A |
possibly damaging |
Het |
| Tlr9 |
A |
G |
9: 106,100,777 (GRCm39) |
T23A |
probably benign |
Het |
| Tra2b |
A |
T |
16: 22,073,151 (GRCm39) |
|
probably benign |
Het |
| Tspan15 |
A |
G |
10: 62,038,849 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,572,710 (GRCm39) |
N694S |
probably benign |
Het |
| Ube3b |
G |
A |
5: 114,557,558 (GRCm39) |
G1014D |
probably damaging |
Het |
| Unc5d |
A |
G |
8: 29,209,854 (GRCm39) |
V422A |
possibly damaging |
Het |
| Vmn2r80 |
C |
T |
10: 79,007,566 (GRCm39) |
T514I |
possibly 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 |
|
|
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 |
|
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 |
2013-01-20 |
Incidental Mutation