Incidental Mutation 'R1356:Fam227b'
| ID |
156315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam227b
|
| Ensembl Gene |
ENSMUSG00000027209 |
| Gene Name |
family with sequence similarity 227, member B |
| Synonyms |
4930525F21Rik |
| MMRRC Submission |
039421-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1356 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
125983483-126152004 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126119008 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 234
(D234N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110446]
[ENSMUST00000110448]
[ENSMUST00000178118]
|
| AlphaFold |
Q9D518 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110446
AA Change: D234N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: D234N
| 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 damaging
Transcript: ENSMUST00000110448
AA Change: D234N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: D234N
| 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 damaging
Transcript: ENSMUST00000178118
AA Change: D234N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: D234N
| 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 |
0.4934 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,302,953 (GRCm38) |
|
probably benign |
Het |
| Adam18 |
A |
G |
8: 24,668,595 (GRCm38) |
|
probably benign |
Het |
| Cd274 |
C |
A |
19: 29,373,570 (GRCm38) |
T22K |
possibly damaging |
Het |
| Cfap45 |
G |
A |
1: 172,527,863 (GRCm38) |
R26Q |
possibly damaging |
Het |
| Dvl3 |
AGCGGCGGCGGCGG |
AGCGGCGGCGG |
16: 20,524,305 (GRCm38) |
|
probably benign |
Het |
| E2f8 |
A |
G |
7: 48,880,270 (GRCm38) |
|
probably benign |
Het |
| Ercc4 |
A |
G |
16: 13,125,282 (GRCm38) |
H255R |
probably damaging |
Het |
| Foxp1 |
A |
T |
6: 99,016,676 (GRCm38) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,989,745 (GRCm38) |
V5274D |
probably benign |
Het |
| Gm21718 |
A |
G |
14: 51,316,647 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr85 |
G |
A |
6: 13,836,147 (GRCm38) |
P253S |
probably benign |
Het |
| Grm7 |
A |
T |
6: 111,359,024 (GRCm38) |
I799F |
probably damaging |
Het |
| Inpp1 |
A |
G |
1: 52,797,056 (GRCm38) |
F84L |
possibly damaging |
Het |
| Kprp |
T |
A |
3: 92,825,602 (GRCm38) |
E47V |
probably damaging |
Het |
| Krt9 |
CTGC |
CTGCNNNNNNNNNNNNNNNNNNNNNTGC |
11: 100,188,814 (GRCm38) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,500,577 (GRCm38) |
|
probably benign |
Het |
| Lurap1l |
C |
G |
4: 80,911,530 (GRCm38) |
A59G |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,446,555 (GRCm38) |
T353S |
probably benign |
Het |
| Mctp2 |
A |
G |
7: 72,164,723 (GRCm38) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,700,334 (GRCm38) |
|
probably benign |
Het |
| Mpeg1 |
T |
A |
19: 12,461,325 (GRCm38) |
V49D |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,952,803 (GRCm38) |
P859S |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,238,251 (GRCm38) |
P58A |
probably benign |
Het |
| Parn |
A |
T |
16: 13,650,674 (GRCm38) |
Y214* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,137,196 (GRCm38) |
E357G |
possibly damaging |
Het |
| Prex2 |
C |
T |
1: 11,080,092 (GRCm38) |
Q163* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,212,317 (GRCm38) |
S294T |
probably benign |
Het |
| Slc46a1 |
A |
G |
11: 78,470,724 (GRCm38) |
N399D |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,624,894 (GRCm38) |
F213S |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,695,472 (GRCm38) |
E1967G |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 42,011,794 (GRCm38) |
*866Q |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGTGAGCCATGAACATCTTCG -3'
(R):5'- TGCTGAAACAAATGGCCCCTCAAG -3'
Sequencing Primer
(F):5'- CAGTGGAGCATTTAGTTCATAGC -3'
(R):5'- GCTGAACTACCCTTTGAGAATAGAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation