Incidental Mutation 'R2884:Fam227b'
| ID |
260950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam227b
|
| Ensembl Gene |
ENSMUSG00000027209 |
| Gene Name |
family with sequence similarity 227, member B |
| Synonyms |
4930525F21Rik |
| MMRRC Submission |
040472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R2884 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
125825403-125993924 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125942846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 317
(I317N)
|
| 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: I317N
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: I317N
| 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: I317N
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: I317N
| 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: I317N
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: I317N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
T |
8: 120,872,250 (GRCm39) |
E59D |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
| BC061237 |
A |
G |
14: 44,738,627 (GRCm39) |
R9G |
possibly damaging |
Het |
| Brsk1 |
A |
G |
7: 4,694,122 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,505,725 (GRCm39) |
A2285S |
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,457,216 (GRCm39) |
Q1087H |
probably damaging |
Het |
| Dnajb5 |
A |
T |
4: 42,957,355 (GRCm39) |
D284V |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,946,132 (GRCm39) |
D329G |
probably damaging |
Het |
| Ecd |
C |
T |
14: 20,370,841 (GRCm39) |
G626D |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,956 (GRCm39) |
D551G |
possibly damaging |
Het |
| Fam3c |
G |
A |
6: 22,329,581 (GRCm39) |
R49C |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,848,127 (GRCm39) |
N1779S |
probably benign |
Het |
| Gm19965 |
T |
A |
1: 116,749,313 (GRCm39) |
N331K |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| H2ac8 |
A |
G |
13: 23,755,047 (GRCm39) |
I79T |
probably damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,121 (GRCm39) |
N41S |
probably damaging |
Het |
| Habp4 |
A |
T |
13: 64,330,080 (GRCm39) |
R328S |
probably benign |
Het |
| Hexb |
C |
T |
13: 97,320,208 (GRCm39) |
G272D |
probably damaging |
Het |
| Lilrb4a |
A |
T |
10: 51,367,709 (GRCm39) |
N84Y |
probably benign |
Het |
| Mtnr1a |
A |
G |
8: 45,540,305 (GRCm39) |
T89A |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,228,469 (GRCm39) |
N336K |
probably benign |
Het |
| Naca |
T |
C |
10: 127,877,547 (GRCm39) |
|
probably benign |
Het |
| Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,198,163 (GRCm39) |
L179P |
probably damaging |
Het |
| Nup93 |
A |
G |
8: 95,030,266 (GRCm39) |
Y375C |
probably damaging |
Het |
| Or52b4 |
A |
G |
7: 102,184,439 (GRCm39) |
I162V |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,459,258 (GRCm39) |
G39R |
probably benign |
Het |
| Ppp4r3a |
T |
C |
12: 101,034,936 (GRCm39) |
E53G |
probably damaging |
Het |
| Prss48 |
A |
T |
3: 85,904,562 (GRCm39) |
M212K |
probably benign |
Het |
| Pth |
A |
T |
7: 112,985,235 (GRCm39) |
L46Q |
probably damaging |
Het |
| Rin2 |
A |
T |
2: 145,702,911 (GRCm39) |
T536S |
probably benign |
Het |
| Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
| Stau2 |
A |
T |
1: 16,301,290 (GRCm39) |
F519Y |
possibly damaging |
Het |
| Syne2 |
T |
G |
12: 76,010,533 (GRCm39) |
V2481G |
probably benign |
Het |
| Tpte |
C |
T |
8: 22,825,439 (GRCm39) |
Q331* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,730,596 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,082 (GRCm39) |
I694V |
probably benign |
Het |
| Vmn2r88 |
G |
A |
14: 51,651,391 (GRCm39) |
C235Y |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,889,576 (GRCm39) |
V653E |
probably damaging |
Het |
| Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
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 |
|
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 |
|
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'- TCGGAGCCCTAAAGATTGAC -3'
(R):5'- TGCTACAATAGGAGCAGACAACTC -3'
Sequencing Primer
(F):5'- TCGGAGCCCTAAAGATTGACACAAG -3'
(R):5'- ATAGGAGCAGACAACTCTACTTAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation