Incidental Mutation 'R8417:Fam227b'
ID |
652984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam227b
|
Ensembl Gene |
ENSMUSG00000027209 |
Gene Name |
family with sequence similarity 227, member B |
Synonyms |
4930525F21Rik |
MMRRC Submission |
067771-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R8417 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
125825403-125993924 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 125962982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 178
(W178L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110446]
[ENSMUST00000110448]
[ENSMUST00000178118]
|
AlphaFold |
Q9D518 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110446
AA Change: W178L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106076 Gene: ENSMUSG00000027209 AA Change: W178L
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: W178L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106078 Gene: ENSMUSG00000027209 AA Change: W178L
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 |
probably damaging
Transcript: ENSMUST00000178118
AA Change: W178L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136349 Gene: ENSMUSG00000027209 AA Change: W178L
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
T |
C |
9: 21,440,381 (GRCm39) |
|
probably null |
Het |
Adamtsl1 |
G |
A |
4: 86,074,926 (GRCm39) |
D98N |
possibly damaging |
Het |
Adgrb3 |
T |
C |
1: 25,527,134 (GRCm39) |
T601A |
probably benign |
Het |
Ankrd33 |
C |
A |
15: 101,017,330 (GRCm39) |
Q248K |
probably benign |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
Casp12 |
G |
T |
9: 5,352,263 (GRCm39) |
C155F |
probably benign |
Het |
Ccn6 |
T |
A |
10: 39,027,207 (GRCm39) |
R342* |
probably null |
Het |
Clpp |
T |
C |
17: 57,297,661 (GRCm39) |
V81A |
probably benign |
Het |
Cyp3a59 |
A |
T |
5: 146,027,495 (GRCm39) |
I89F |
possibly damaging |
Het |
Fcna |
C |
A |
2: 25,514,863 (GRCm39) |
R332L |
probably damaging |
Het |
Gdf3 |
T |
G |
6: 122,583,566 (GRCm39) |
H267P |
probably damaging |
Het |
Gm5592 |
A |
G |
7: 40,937,975 (GRCm39) |
D419G |
probably benign |
Het |
Gm6882 |
A |
G |
7: 21,161,220 (GRCm39) |
V216A |
probably damaging |
Het |
Gsdma3 |
A |
G |
11: 98,520,603 (GRCm39) |
N78S |
probably benign |
Het |
Hsd3b9 |
G |
A |
3: 98,363,731 (GRCm39) |
T38I |
probably benign |
Het |
Hydin |
T |
C |
8: 111,296,024 (GRCm39) |
I3579T |
probably benign |
Het |
Ighmbp2 |
T |
C |
19: 3,311,590 (GRCm39) |
I942V |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,106,515 (GRCm39) |
Y1266H |
probably damaging |
Het |
Lgi3 |
T |
C |
14: 70,772,246 (GRCm39) |
Y264H |
probably benign |
Het |
Lmod2 |
G |
A |
6: 24,603,384 (GRCm39) |
E120K |
possibly damaging |
Het |
Mbl2 |
G |
T |
19: 30,216,884 (GRCm39) |
C232F |
probably damaging |
Het |
Morc1 |
T |
C |
16: 48,281,103 (GRCm39) |
V214A |
probably damaging |
Het |
Nlrp4b |
T |
A |
7: 10,459,880 (GRCm39) |
C827* |
probably null |
Het |
Or12k5 |
T |
A |
2: 36,894,658 (GRCm39) |
T323S |
probably benign |
Het |
Or5t7 |
A |
G |
2: 86,507,149 (GRCm39) |
F176S |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,749,419 (GRCm39) |
H72Q |
possibly damaging |
Het |
Plekhm2 |
T |
C |
4: 141,355,136 (GRCm39) |
I944V |
probably benign |
Het |
Prdm8 |
A |
T |
5: 98,332,390 (GRCm39) |
D97V |
probably damaging |
Het |
Preb |
G |
A |
5: 31,117,461 (GRCm39) |
|
probably benign |
Het |
Prkcd |
T |
C |
14: 30,331,208 (GRCm39) |
K56E |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,501,438 (GRCm39) |
I391F |
probably damaging |
Het |
Spata19 |
A |
G |
9: 27,309,266 (GRCm39) |
S91G |
probably benign |
Het |
Stag3 |
A |
G |
5: 138,306,850 (GRCm39) |
T1134A |
probably benign |
Het |
Tgfbr2 |
A |
T |
9: 115,939,197 (GRCm39) |
M235K |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,249,097 (GRCm39) |
I212N |
probably damaging |
Het |
Tnfrsf26 |
C |
T |
7: 143,168,639 (GRCm39) |
R133K |
probably benign |
Het |
Trim43c |
C |
A |
9: 88,725,191 (GRCm39) |
Q238K |
probably benign |
Het |
Vcan |
T |
C |
13: 89,836,862 (GRCm39) |
D2894G |
probably benign |
Het |
Zeb2 |
C |
T |
2: 44,913,008 (GRCm39) |
S105N |
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 |
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 |
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'- ACTGTGATATTGGATCTCCCTTATC -3'
(R):5'- TTCCTACATTGCTGGTGTGC -3'
Sequencing Primer
(F):5'- ATCTTTTGTGAGTGGTGAAGAAC -3'
(R):5'- CCTTGCATTATGTACTAGCTATGTG -3'
|
Posted On |
2020-10-20 |