Incidental Mutation 'R1404:Fam227b'
ID |
188644 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam227b
|
Ensembl Gene |
ENSMUSG00000027209 |
Gene Name |
family with sequence similarity 227, member B |
Synonyms |
4930525F21Rik |
MMRRC Submission |
039466-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R1404 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
125825403-125993924 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125845759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 410
(L410P)
|
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: L410P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106076 Gene: ENSMUSG00000027209 AA Change: L410P
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: L410P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106078 Gene: ENSMUSG00000027209 AA Change: L410P
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: L410P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000136349 Gene: ENSMUSG00000027209 AA Change: L410P
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
100% (28/28) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
Actl6a |
T |
C |
3: 32,776,759 (GRCm39) |
|
probably benign |
Het |
Aoc1l1 |
A |
T |
6: 48,952,767 (GRCm39) |
T231S |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,385,371 (GRCm39) |
|
probably benign |
Het |
Arrdc3 |
A |
G |
13: 81,031,973 (GRCm39) |
T69A |
probably damaging |
Het |
Bbs2 |
T |
C |
8: 94,808,627 (GRCm39) |
K360R |
probably null |
Het |
Cdh8 |
A |
T |
8: 100,006,250 (GRCm39) |
N112K |
probably damaging |
Het |
Ces5a |
A |
T |
8: 94,228,809 (GRCm39) |
F474I |
probably damaging |
Het |
Dync1i1 |
G |
A |
6: 5,915,876 (GRCm39) |
D253N |
probably damaging |
Het |
Fam151b |
T |
C |
13: 92,610,480 (GRCm39) |
D103G |
probably damaging |
Het |
Ihh |
A |
T |
1: 74,990,372 (GRCm39) |
M1K |
probably null |
Het |
Itga6 |
A |
G |
2: 71,669,060 (GRCm39) |
T617A |
probably benign |
Het |
Itpr1 |
T |
A |
6: 108,363,609 (GRCm39) |
C744S |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,081,311 (GRCm39) |
I208V |
probably benign |
Het |
Lama4 |
A |
G |
10: 38,937,387 (GRCm39) |
K659R |
probably benign |
Het |
Lpin3 |
T |
A |
2: 160,734,310 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
A |
4: 123,270,309 (GRCm39) |
E6612V |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Ncdn |
T |
C |
4: 126,643,833 (GRCm39) |
K330E |
probably benign |
Het |
Neb |
C |
T |
2: 52,073,287 (GRCm39) |
D1975N |
possibly damaging |
Het |
Nell1 |
T |
A |
7: 50,503,621 (GRCm39) |
N675K |
possibly damaging |
Het |
Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,504,026 (GRCm39) |
|
probably benign |
Het |
Or4f47 |
G |
A |
2: 111,972,968 (GRCm39) |
R226H |
probably benign |
Het |
Rnf43 |
A |
G |
11: 87,625,003 (GRCm39) |
E737G |
possibly damaging |
Het |
Sardh |
C |
A |
2: 27,129,473 (GRCm39) |
W275L |
probably damaging |
Het |
Sel1l2 |
C |
T |
2: 140,071,979 (GRCm39) |
|
probably benign |
Het |
Sipa1l2 |
G |
A |
8: 126,176,712 (GRCm39) |
H1185Y |
probably damaging |
Het |
Skp2 |
G |
A |
15: 9,117,012 (GRCm39) |
Q298* |
probably null |
Het |
Spag16 |
G |
A |
1: 69,934,439 (GRCm39) |
|
probably benign |
Het |
Spink14 |
A |
G |
18: 44,161,896 (GRCm39) |
|
probably benign |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Stx12 |
T |
A |
4: 132,598,960 (GRCm39) |
I43L |
probably benign |
Het |
Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
Tollip |
T |
C |
7: 141,438,292 (GRCm39) |
M209V |
probably benign |
Het |
Ttn |
A |
T |
2: 76,643,312 (GRCm39) |
S13202R |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,786,211 (GRCm39) |
V338D |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,263,471 (GRCm39) |
L767P |
probably damaging |
Het |
Zfp202 |
C |
T |
9: 40,122,792 (GRCm39) |
T518I |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCTCAGCCAATTGTGCTGCC -3'
(R):5'- AGTGTCAGTGACCTGTGCCTTTTC -3'
Sequencing Primer
(F):5'- CAATTGTGCTGCCGAGGTAAAC -3'
(R):5'- GACCTGTGCCTTTTCCTCCC -3'
|
Posted On |
2014-05-09 |