Incidental Mutation 'V7583:Fam221b'
| ID |
152642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam221b
|
| Ensembl Gene |
ENSMUSG00000043633 |
| Gene Name |
family with sequence similarity 221, member B |
| Synonyms |
4930412F15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
V7583 ()
of strain
stinger
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43659622-43668859 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43665865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 249
(T249A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056474]
[ENSMUST00000107864]
[ENSMUST00000107865]
[ENSMUST00000107866]
[ENSMUST00000143339]
[ENSMUST00000167153]
|
| AlphaFold |
Q8C627 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056474
AA Change: T249A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000057398
Gene: ENSMUSG00000043633
AA Change: T249A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
105 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
119 |
164 |
1.12e-19 |
PROSPERO |
|
internal_repeat_1
|
165 |
210 |
1.12e-19 |
PROSPERO |
|
low complexity region
|
267 |
285 |
N/A |
INTRINSIC |
|
Pfam:DUF4475
|
312 |
482 |
1.7e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102482
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107864
|
| SMART Domains |
Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
EGF
|
185 |
221 |
1.95e1 |
SMART |
|
Pfam:DUF3522
|
229 |
415 |
2.1e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107865
|
| SMART Domains |
Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
EGF
|
185 |
221 |
1.95e1 |
SMART |
|
Pfam:DUF3522
|
229 |
415 |
2.1e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107866
|
| SMART Domains |
Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
443 |
N/A |
INTRINSIC |
|
EGF
|
606 |
642 |
1.95e1 |
SMART |
|
Pfam:DUF3522
|
652 |
836 |
1.4e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143774
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143339
|
| SMART Domains |
Protein: ENSMUSP00000130133
Gene: ENSMUSG00000078716
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167153
|
| SMART Domains |
Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
EGF
|
185 |
221 |
1.95e1 |
SMART |
|
Pfam:DUF3522
|
229 |
415 |
2.1e-70 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,262,825 (GRCm39) |
G1501S |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,931 (GRCm39) |
T870A |
probably benign |
Het |
| Dcaf4 |
C |
A |
12: 83,584,475 (GRCm39) |
|
probably null |
Het |
| Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
| Dpyd |
C |
T |
3: 118,690,775 (GRCm39) |
Q295* |
probably null |
Het |
| Dync2i1 |
A |
C |
12: 116,175,460 (GRCm39) |
S906A |
possibly damaging |
Het |
| Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
| Fcgr1 |
T |
C |
3: 96,191,592 (GRCm39) |
*405W |
probably null |
Het |
| Gm10770 |
T |
A |
2: 150,021,404 (GRCm39) |
K38* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,385,143 (GRCm39) |
E727G |
possibly damaging |
Het |
| Hnrnpab |
A |
T |
11: 51,493,451 (GRCm39) |
N252K |
probably benign |
Het |
| Ing1 |
T |
C |
8: 11,611,934 (GRCm39) |
V124A |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,539,725 (GRCm39) |
T155S |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
| Mbd5 |
A |
G |
2: 49,206,422 (GRCm39) |
D1713G |
probably damaging |
Het |
| Muc6 |
T |
G |
7: 141,233,880 (GRCm39) |
E808A |
probably benign |
Het |
| Mylk |
G |
T |
16: 34,815,574 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,467,005 (GRCm39) |
V670A |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,913,093 (GRCm39) |
|
probably null |
Het |
| Numbl |
T |
C |
7: 26,979,027 (GRCm39) |
S379P |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
| Pigx |
T |
C |
16: 31,906,240 (GRCm39) |
D129G |
probably damaging |
Het |
| Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,303,825 (GRCm39) |
T112A |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,590,369 (GRCm39) |
D705G |
possibly damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,130 (GRCm39) |
Q501R |
probably damaging |
Het |
| Sirpb1b |
A |
G |
3: 15,568,243 (GRCm39) |
V366A |
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
| Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
| Spata31 |
C |
A |
13: 65,069,462 (GRCm39) |
P537T |
probably benign |
Het |
| Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
| Toe1 |
A |
T |
4: 116,663,308 (GRCm39) |
N56K |
probably damaging |
Het |
| Tprkb |
A |
G |
6: 85,905,764 (GRCm39) |
K150E |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,973 (GRCm39) |
K150E |
probably damaging |
Het |
| Tspyl3 |
A |
G |
2: 153,066,980 (GRCm39) |
V86A |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,127,709 (GRCm39) |
Y844C |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,064,552 (GRCm39) |
I528N |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
| Zfp933 |
G |
A |
4: 147,910,927 (GRCm39) |
A223V |
probably damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,654,314 (GRCm39) |
R724* |
probably null |
Het |
|
| Other mutations in Fam221b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01511:Fam221b
|
APN |
4 |
43,660,135 (GRCm39) |
splice site |
probably null |
|
|
IGL01576:Fam221b
|
APN |
4 |
43,666,227 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02126:Fam221b
|
APN |
4 |
43,666,450 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02407:Fam221b
|
APN |
4 |
43,666,309 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02425:Fam221b
|
APN |
4 |
43,660,642 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03174:Fam221b
|
APN |
4 |
43,666,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
F5770:Fam221b
|
UTSW |
4 |
43,665,865 (GRCm39) |
missense |
probably benign |
|
|
R1785:Fam221b
|
UTSW |
4 |
43,665,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1786:Fam221b
|
UTSW |
4 |
43,665,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1896:Fam221b
|
UTSW |
4 |
43,660,375 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4091:Fam221b
|
UTSW |
4 |
43,665,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4695:Fam221b
|
UTSW |
4 |
43,659,622 (GRCm39) |
splice site |
probably null |
|
|
R5024:Fam221b
|
UTSW |
4 |
43,659,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5778:Fam221b
|
UTSW |
4 |
43,660,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6335:Fam221b
|
UTSW |
4 |
43,665,942 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7994:Fam221b
|
UTSW |
4 |
43,665,514 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8144:Fam221b
|
UTSW |
4 |
43,665,466 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8144:Fam221b
|
UTSW |
4 |
43,665,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8182:Fam221b
|
UTSW |
4 |
43,660,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Fam221b
|
UTSW |
4 |
43,665,519 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9753:Fam221b
|
UTSW |
4 |
43,665,574 (GRCm39) |
missense |
probably benign |
0.40 |
|
V7580:Fam221b
|
UTSW |
4 |
43,665,865 (GRCm39) |
missense |
probably benign |
|
|
V7581:Fam221b
|
UTSW |
4 |
43,665,865 (GRCm39) |
missense |
probably benign |
|
|
V7582:Fam221b
|
UTSW |
4 |
43,665,865 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Fam221b
|
UTSW |
4 |
43,666,039 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGGTTGAATCCTTCTCCCACTG -3'
(R):5'- ATCCCCAAGTATGAGAGTCCCGTC -3'
Sequencing Primer
(F):5'- CCACTGGAAAAGATTGTTCACCTG -3'
(R):5'- TATGAGAGTCCCGTCTCCGAAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation