Incidental Mutation 'R4457:Fam227b'
| ID |
329931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam227b
|
| Ensembl Gene |
ENSMUSG00000027209 |
| Gene Name |
family with sequence similarity 227, member B |
| Synonyms |
4930525F21Rik |
| MMRRC Submission |
041717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R4457 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
125983483-126152004 bp(-) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 126146268 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 |
|
| Meta Mutation Damage Score |
0.1410 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
A |
G |
16: 90,554,372 (GRCm38) |
|
noncoding transcript |
Het |
| 1700025G04Rik |
T |
C |
1: 151,921,054 (GRCm38) |
R87G |
probably damaging |
Het |
| 9030619P08Rik |
T |
A |
15: 75,431,400 (GRCm38) |
|
noncoding transcript |
Het |
| Akap13 |
A |
G |
7: 75,739,465 (GRCm38) |
D2377G |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,274,093 (GRCm38) |
S593P |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,720,225 (GRCm38) |
R671Q |
probably benign |
Het |
| Cdkn2d |
C |
G |
9: 21,290,889 (GRCm38) |
V21L |
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,630,150 (GRCm38) |
K181R |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,613,083 (GRCm38) |
I383T |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,222,252 (GRCm38) |
D398G |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,815,507 (GRCm38) |
Y2238H |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,740,621 (GRCm38) |
N3161S |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 30,813,151 (GRCm38) |
H4148Q |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,716,293 (GRCm38) |
S397G |
possibly damaging |
Het |
| Eya4 |
A |
T |
10: 23,116,668 (GRCm38) |
S462R |
probably damaging |
Het |
| Frrs1 |
G |
A |
3: 116,896,728 (GRCm38) |
V7I |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,990,776 (GRCm38) |
A5618S |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,073 (GRCm38) |
M437K |
probably benign |
Het |
| Gm2840 |
T |
G |
5: 96,174,328 (GRCm38) |
|
noncoding transcript |
Het |
| Gm4956 |
A |
G |
1: 21,298,095 (GRCm38) |
|
noncoding transcript |
Het |
| Gria4 |
A |
G |
9: 4,427,074 (GRCm38) |
W789R |
probably damaging |
Het |
| Hoxb5 |
A |
G |
11: 96,303,720 (GRCm38) |
D36G |
probably damaging |
Het |
| Hps5 |
A |
T |
7: 46,783,613 (GRCm38) |
C228S |
probably benign |
Het |
| Hspa4 |
A |
T |
11: 53,280,568 (GRCm38) |
C270S |
probably damaging |
Het |
| Htra4 |
C |
A |
8: 25,038,658 (GRCm38) |
A73S |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,684,188 (GRCm38) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,572,366 (GRCm38) |
H131Y |
probably benign |
Het |
| Kat6a |
A |
G |
8: 22,932,113 (GRCm38) |
|
probably null |
Het |
| Lamp3 |
T |
A |
16: 19,673,529 (GRCm38) |
M322L |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,475,130 (GRCm38) |
V37A |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,742,934 (GRCm38) |
V128M |
probably damaging |
Het |
| Myh1 |
G |
A |
11: 67,220,615 (GRCm38) |
G1627R |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,290,999 (GRCm38) |
I235V |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,248,116 (GRCm38) |
|
probably null |
Het |
| Ndufa12 |
A |
T |
10: 94,220,818 (GRCm38) |
K136M |
probably damaging |
Het |
| Olfr1174-ps |
A |
G |
2: 88,310,829 (GRCm38) |
|
probably benign |
Het |
| Olfr1251 |
A |
T |
2: 89,667,083 (GRCm38) |
S268T |
probably benign |
Het |
| Olfr331 |
A |
G |
11: 58,502,118 (GRCm38) |
L146P |
probably damaging |
Het |
| Olfr577 |
C |
T |
7: 102,973,527 (GRCm38) |
S155N |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 36,940,546 (GRCm38) |
D410G |
probably damaging |
Het |
| Pcyox1l |
T |
A |
18: 61,697,868 (GRCm38) |
N311I |
probably benign |
Het |
| Pif1 |
A |
G |
9: 65,587,776 (GRCm38) |
|
probably benign |
Het |
| Pkp1 |
CTCTTCTT |
CTCTT |
1: 135,875,624 (GRCm38) |
|
probably null |
Het |
| Pogz |
G |
A |
3: 94,856,063 (GRCm38) |
V49I |
probably benign |
Het |
| Rab36 |
G |
A |
10: 75,044,496 (GRCm38) |
V63I |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,351,361 (GRCm38) |
Y189C |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,701,612 (GRCm38) |
|
noncoding transcript |
Het |
| Sgms2 |
A |
C |
3: 131,325,016 (GRCm38) |
Y273D |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,497,089 (GRCm38) |
V203I |
probably benign |
Het |
| Slc4a2 |
T |
A |
5: 24,434,330 (GRCm38) |
|
probably benign |
Het |
| Tbc1d13 |
A |
G |
2: 30,135,438 (GRCm38) |
|
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 46,007,526 (GRCm38) |
N526S |
probably benign |
Het |
| Tet2 |
C |
T |
3: 133,485,563 (GRCm38) |
D1037N |
possibly damaging |
Het |
| Thrb |
T |
A |
14: 18,011,187 (GRCm38) |
W188R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,946,913 (GRCm38) |
M1382V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,394,078 (GRCm38) |
I551L |
possibly damaging |
Het |
| Vwde |
T |
C |
6: 13,196,101 (GRCm38) |
I308M |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,411,516 (GRCm38) |
I3488V |
unknown |
Het |
| Zgrf1 |
A |
T |
3: 127,595,929 (GRCm38) |
I375F |
probably damaging |
Het |
| Zic4 |
A |
G |
9: 91,379,262 (GRCm38) |
K183R |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCCATGCAGGCTTCTC -3'
(R):5'- GCTCAGGTTCTGGAATTCAAAAC -3'
Sequencing Primer
(F):5'- GCTTCTCAGCACCAGGC -3'
(R):5'- CAGGTTCTGGAATTCAAAACTGTAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation