Incidental Mutation 'IGL01576:Fam221b'
| ID |
91258 |
| 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 # |
IGL01576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43659622-43668859 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43666227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 128
(E128G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056474]
[ENSMUST00000107864]
[ENSMUST00000107865]
[ENSMUST00000107866]
[ENSMUST00000167153]
[ENSMUST00000143339]
|
| AlphaFold |
Q8C627 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056474
AA Change: E128G
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057398
Gene: ENSMUSG00000043633
AA Change: E128G
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,531,293 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,816,121 (GRCm39) |
E541G |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,962 (GRCm39) |
D571V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,984,365 (GRCm39) |
N4459S |
possibly damaging |
Het |
| Brsk2 |
T |
C |
7: 141,535,292 (GRCm39) |
I38T |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,258,602 (GRCm39) |
R563* |
probably null |
Het |
| Car7 |
T |
A |
8: 105,276,180 (GRCm39) |
|
probably null |
Het |
| Chml |
T |
C |
1: 175,515,271 (GRCm39) |
T217A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,307,813 (GRCm39) |
N3042K |
probably damaging |
Het |
| Efcab2 |
T |
G |
1: 178,264,957 (GRCm39) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,208,174 (GRCm39) |
E397G |
probably damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,094 (GRCm39) |
T443A |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,943,096 (GRCm39) |
D663G |
probably damaging |
Het |
| Fndc10 |
T |
A |
4: 155,779,433 (GRCm39) |
V159D |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,633,164 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Gpr63 |
G |
T |
4: 25,008,445 (GRCm39) |
D390Y |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,876,409 (GRCm39) |
|
probably null |
Het |
| Igdcc3 |
A |
G |
9: 65,085,152 (GRCm39) |
T199A |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,739,047 (GRCm39) |
V285A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,062,101 (GRCm39) |
S443G |
possibly damaging |
Het |
| Med22 |
C |
T |
2: 26,799,004 (GRCm39) |
|
probably null |
Het |
| Or7c70 |
G |
T |
10: 78,683,207 (GRCm39) |
L181I |
possibly damaging |
Het |
| Pals2 |
G |
A |
6: 50,140,472 (GRCm39) |
R164Q |
probably benign |
Het |
| Pcnt |
T |
G |
10: 76,204,656 (GRCm39) |
D2583A |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,977,054 (GRCm39) |
R598Q |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,906,575 (GRCm39) |
V646A |
probably damaging |
Het |
| Podxl |
A |
T |
6: 31,501,319 (GRCm39) |
V412D |
probably damaging |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,123 (GRCm39) |
S129R |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,346,526 (GRCm39) |
I349V |
probably benign |
Het |
| Rorb |
C |
T |
19: 18,934,698 (GRCm39) |
G224D |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,757 (GRCm39) |
I508F |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,628,079 (GRCm39) |
V619M |
probably damaging |
Het |
| Tgm7 |
A |
T |
2: 120,931,514 (GRCm39) |
D216E |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,329,200 (GRCm39) |
D493G |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,583,598 (GRCm39) |
C749S |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,519 (GRCm39) |
N284D |
possibly damaging |
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 |
|
|
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation