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: 0.073)
|
| Stock # |
R1404 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
125983483-126152004 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126003839 bp (GRCm38)
|
| 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 |
|
probably benign |
Het |
| Actl6a |
T |
C |
3: 32,722,610 |
|
probably benign |
Het |
| Aox2 |
T |
C |
1: 58,346,212 |
|
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 80,883,854 |
T69A |
probably damaging |
Het |
| Bbs2 |
T |
C |
8: 94,081,999 |
K360R |
probably null |
Het |
| Cdh8 |
A |
T |
8: 99,279,618 |
N112K |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 93,502,181 |
F474I |
probably damaging |
Het |
| Doxl2 |
A |
T |
6: 48,975,833 |
T231S |
probably benign |
Het |
| Dync1i1 |
G |
A |
6: 5,915,876 |
D253N |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,473,972 |
D103G |
probably damaging |
Het |
| Ihh |
A |
T |
1: 74,951,213 |
M1K |
probably null |
Het |
| Itga6 |
A |
G |
2: 71,838,716 |
T617A |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,386,648 |
C744S |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,245,442 |
I208V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 39,061,391 |
K659R |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,892,390 |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,376,516 |
E6612V |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,161,854 |
E558G |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,750,040 |
K330E |
probably benign |
Het |
| Neb |
C |
T |
2: 52,183,275 |
D1975N |
possibly damaging |
Het |
| Nell1 |
T |
A |
7: 50,853,873 |
N675K |
possibly damaging |
Het |
| Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,924,113 |
|
probably benign |
Het |
| Olfr1317 |
G |
A |
2: 112,142,623 |
R226H |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,734,177 |
E737G |
possibly damaging |
Het |
| Sardh |
C |
A |
2: 27,239,461 |
W275L |
probably damaging |
Het |
| Sel1l2 |
C |
T |
2: 140,230,059 |
|
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 125,449,973 |
H1185Y |
probably damaging |
Het |
| Skp2 |
G |
A |
15: 9,116,925 |
Q298* |
probably null |
Het |
| Spag16 |
G |
A |
1: 69,895,280 |
|
probably benign |
Het |
| Spink14 |
A |
G |
18: 44,028,829 |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 164,100,528 |
T360M |
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,871,649 |
I43L |
probably benign |
Het |
| Tmc1 |
T |
A |
19: 20,816,184 |
I538F |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,884,555 |
M209V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,812,968 |
S13202R |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 42,136,787 |
V338D |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,026,031 |
L767P |
probably damaging |
Het |
| Zfp202 |
C |
T |
9: 40,211,496 |
T518I |
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 |
|
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'- TAGCTCAGCCAATTGTGCTGCC -3'
(R):5'- AGTGTCAGTGACCTGTGCCTTTTC -3'
Sequencing Primer
(F):5'- CAATTGTGCTGCCGAGGTAAAC -3'
(R):5'- GACCTGTGCCTTTTCCTCCC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation