Incidental Mutation 'IGL01073:Fam222b'
| ID |
52229 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam222b
|
| Ensembl Gene |
ENSMUSG00000037750 |
| Gene Name |
family with sequence similarity 222, member B |
| Synonyms |
BC017647 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.327)
|
| Stock # |
IGL01073
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
77985486-78047526 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78045314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 292
(I292V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017530]
[ENSMUST00000073705]
[ENSMUST00000100782]
[ENSMUST00000155571]
|
| AlphaFold |
Q6P539 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017530
|
| SMART Domains |
Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
57 |
1.41e-4 |
SMART |
|
Pfam:zf-TRAF
|
102 |
156 |
3.4e-19 |
PFAM |
|
Pfam:zf-TRAF
|
156 |
210 |
4e-12 |
PFAM |
|
Pfam:zf-TRAF
|
210 |
269 |
4.2e-23 |
PFAM |
|
low complexity region
|
287 |
302 |
N/A |
INTRINSIC |
|
MATH
|
312 |
445 |
1.04e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073705
AA Change: I292V
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750
AA Change: I292V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM222A
|
27 |
562 |
5.6e-233 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100782
AA Change: I164V
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126620
Gene: ENSMUSG00000037750
AA Change: I164V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM222A
|
1 |
434 |
1.9e-157 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149437
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155571
AA Change: I292V
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750
AA Change: I292V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM222A
|
27 |
562 |
3.2e-259 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd24 |
A |
G |
10: 81,475,156 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ccnd3 |
A |
G |
17: 47,905,770 (GRCm39) |
T104A |
probably benign |
Het |
| Cntnap5b |
A |
T |
1: 100,003,755 (GRCm39) |
D245V |
probably benign |
Het |
| Cryab |
A |
G |
9: 50,665,855 (GRCm39) |
K82R |
probably damaging |
Het |
| Dnmt3b |
G |
A |
2: 153,512,762 (GRCm39) |
|
probably benign |
Het |
| Eif2b5 |
A |
T |
16: 20,319,046 (GRCm39) |
K99* |
probably null |
Het |
| Itpr1 |
A |
C |
6: 108,390,781 (GRCm39) |
N1560T |
probably benign |
Het |
| Lca5 |
T |
A |
9: 83,277,528 (GRCm39) |
K605N |
probably damaging |
Het |
| Letm1 |
T |
C |
5: 33,906,144 (GRCm39) |
D424G |
possibly damaging |
Het |
| Mtif3 |
C |
A |
5: 146,895,790 (GRCm39) |
R99L |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,221,510 (GRCm39) |
M430V |
probably benign |
Het |
| Or4c121 |
A |
T |
2: 89,023,481 (GRCm39) |
L299Q |
possibly damaging |
Het |
| Pgap2 |
T |
A |
7: 101,875,661 (GRCm39) |
|
probably benign |
Het |
| Phf11c |
A |
T |
14: 59,626,797 (GRCm39) |
S129T |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,354,086 (GRCm39) |
N154S |
probably damaging |
Het |
| Rfng |
C |
T |
11: 120,674,747 (GRCm39) |
R81H |
probably benign |
Het |
| Rnf38 |
A |
G |
4: 44,137,645 (GRCm39) |
M280T |
probably benign |
Het |
| Rrp7a |
G |
A |
15: 83,002,282 (GRCm39) |
A185V |
probably benign |
Het |
| Slc22a2 |
C |
A |
17: 12,803,236 (GRCm39) |
F23L |
probably benign |
Het |
| Slc35f1 |
A |
G |
10: 52,898,056 (GRCm39) |
T156A |
probably benign |
Het |
| Slfn1 |
A |
T |
11: 83,012,163 (GRCm39) |
Y93F |
probably benign |
Het |
| Snrnp200 |
A |
T |
2: 127,056,832 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
A |
G |
17: 80,730,176 (GRCm39) |
F701S |
probably damaging |
Het |
| Tmem203 |
A |
C |
2: 25,145,736 (GRCm39) |
I19L |
probably benign |
Het |
| Usp8 |
A |
T |
2: 126,560,034 (GRCm39) |
K18N |
probably damaging |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,971 (GRCm39) |
R286K |
probably benign |
Het |
| Vmn2r23 |
A |
C |
6: 123,689,759 (GRCm39) |
T212P |
possibly damaging |
Het |
|
| Other mutations in Fam222b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01948:Fam222b
|
APN |
11 |
78,045,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Fam222b
|
APN |
11 |
78,044,934 (GRCm39) |
missense |
probably benign |
0.44 |
|
H8562:Fam222b
|
UTSW |
11 |
78,045,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0087:Fam222b
|
UTSW |
11 |
78,044,718 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0385:Fam222b
|
UTSW |
11 |
78,045,756 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0478:Fam222b
|
UTSW |
11 |
78,044,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1565:Fam222b
|
UTSW |
11 |
78,045,488 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1586:Fam222b
|
UTSW |
11 |
78,045,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Fam222b
|
UTSW |
11 |
78,045,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Fam222b
|
UTSW |
11 |
78,045,861 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1878:Fam222b
|
UTSW |
11 |
78,034,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2301:Fam222b
|
UTSW |
11 |
78,045,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3120:Fam222b
|
UTSW |
11 |
78,044,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3915:Fam222b
|
UTSW |
11 |
78,045,756 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4003:Fam222b
|
UTSW |
11 |
78,045,755 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4748:Fam222b
|
UTSW |
11 |
78,045,429 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4982:Fam222b
|
UTSW |
11 |
78,045,569 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5307:Fam222b
|
UTSW |
11 |
78,044,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Fam222b
|
UTSW |
11 |
78,045,858 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5618:Fam222b
|
UTSW |
11 |
78,045,066 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7181:Fam222b
|
UTSW |
11 |
78,045,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Fam222b
|
UTSW |
11 |
78,045,683 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7285:Fam222b
|
UTSW |
11 |
78,034,007 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7467:Fam222b
|
UTSW |
11 |
78,045,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Fam222b
|
UTSW |
11 |
78,044,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7804:Fam222b
|
UTSW |
11 |
78,044,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7941:Fam222b
|
UTSW |
11 |
78,045,885 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9099:Fam222b
|
UTSW |
11 |
78,046,020 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-06-21 |
Incidental Mutation