Incidental Mutation 'R3124:Fam227b'
| ID |
264185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam227b
|
| Ensembl Gene |
ENSMUSG00000027209 |
| Gene Name |
family with sequence similarity 227, member B |
| Synonyms |
4930525F21Rik |
| MMRRC Submission |
040597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
125825403-125993924 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125966006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 140
(T140A)
|
| 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: T140A
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: T140A
| 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: T140A
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: T140A
| 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: T140A
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: T140A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
| Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAACAGGGTTAGACATCACTAATG -3'
(R):5'- TTGGCTCATGAATATGCAAAGGC -3'
Sequencing Primer
(F):5'- CAAGCGTTGTTTAACATCTAACTTC -3'
(R):5'- GCAAAGGCATTTAATTTTTCAGAAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation