Incidental Mutation 'IGL02425:Fam221b'
| ID |
292889 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02425
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43659622-43668859 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 43660642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030192]
[ENSMUST00000056474]
|
| AlphaFold |
Q8C627 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030192
|
| SMART Domains |
Protein: ENSMUSP00000030192
Gene: ENSMUSG00000028470
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DcpS_C
|
53 |
159 |
7.1e-25 |
PFAM |
|
Pfam:HIT
|
61 |
158 |
1.5e-30 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000056474
|
| SMART Domains |
Protein: ENSMUSP00000057398
Gene: ENSMUSG00000043633
| 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 |
noncoding transcript
Transcript: ENSMUST00000130593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155985
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 8430423G03Rik |
A |
G |
5: 148,887,472 (GRCm39) |
|
probably benign |
Het |
| Adam4 |
C |
T |
12: 81,468,102 (GRCm39) |
R173H |
probably benign |
Het |
| Akap12 |
A |
G |
10: 4,306,034 (GRCm39) |
E948G |
possibly damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,323,749 (GRCm39) |
Y184C |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,854,316 (GRCm39) |
V761A |
probably benign |
Het |
| Bahd1 |
T |
A |
2: 118,749,645 (GRCm39) |
F480L |
probably benign |
Het |
| Bicral |
T |
C |
17: 47,119,380 (GRCm39) |
T714A |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,746,390 (GRCm39) |
I263T |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2d34 |
C |
T |
15: 82,502,480 (GRCm39) |
V219I |
probably benign |
Het |
| Dsn1 |
A |
G |
2: 156,838,667 (GRCm39) |
V316A |
probably damaging |
Het |
| Errfi1 |
T |
A |
4: 150,950,813 (GRCm39) |
F80L |
probably benign |
Het |
| Fgd6 |
G |
A |
10: 93,910,064 (GRCm39) |
G790R |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,680,302 (GRCm39) |
|
probably benign |
Het |
| Gldn |
T |
A |
9: 54,246,005 (GRCm39) |
Y519N |
probably damaging |
Het |
| Il18r1 |
T |
C |
1: 40,530,381 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,292,819 (GRCm39) |
V380A |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,209,600 (GRCm39) |
Y154H |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,118,480 (GRCm39) |
V2564A |
probably benign |
Het |
| Lca5 |
T |
C |
9: 83,281,774 (GRCm39) |
T337A |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,756 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
A |
G |
10: 24,155,334 (GRCm39) |
N245S |
probably benign |
Het |
| Napepld |
T |
C |
5: 21,888,440 (GRCm39) |
E3G |
probably benign |
Het |
| Nr1d2 |
T |
C |
14: 18,222,011 (GRCm38) |
T87A |
probably benign |
Het |
| Nudt4 |
T |
A |
10: 95,385,245 (GRCm39) |
T149S |
probably benign |
Het |
| Rad18 |
A |
T |
6: 112,597,859 (GRCm39) |
D219E |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,760,560 (GRCm39) |
I1508V |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,038,420 (GRCm39) |
S1635N |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,839,919 (GRCm39) |
V121A |
probably benign |
Het |
| Snapc4 |
T |
C |
2: 26,258,212 (GRCm39) |
D736G |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,123,811 (GRCm39) |
|
probably null |
Het |
| Strip1 |
T |
C |
3: 107,521,962 (GRCm39) |
I739V |
probably benign |
Het |
| Tmem161a |
T |
C |
8: 70,629,577 (GRCm39) |
|
probably null |
Het |
| Top1mt |
T |
C |
15: 75,547,970 (GRCm39) |
T39A |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,890,175 (GRCm39) |
M926T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,587,624 (GRCm39) |
K19744* |
probably null |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,777 (GRCm39) |
E784G |
probably damaging |
Het |
| Wnk1 |
A |
G |
6: 119,940,415 (GRCm39) |
F774S |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,554,909 (GRCm39) |
Y101* |
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 |
|
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 |
|
|
V7583:Fam221b
|
UTSW |
4 |
43,665,865 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Fam221b
|
UTSW |
4 |
43,666,039 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2015-04-16 |
Incidental Mutation