Incidental Mutation 'IGL02194:Fam76b'
| ID |
284006 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam76b
|
| Ensembl Gene |
ENSMUSG00000037808 |
| Gene Name |
family with sequence similarity 76, member B |
| Synonyms |
2810485I05Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.536)
|
| Stock # |
IGL02194
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
13739012-13766283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 13744274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 124
(G124W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059579]
[ENSMUST00000156680]
[ENSMUST00000213416]
|
| AlphaFold |
Q80XP8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059579
AA Change: G124W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062642
Gene: ENSMUSG00000037808
AA Change: G124W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM76
|
6 |
328 |
8.4e-121 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130106
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156680
AA Change: G124W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115751
Gene: ENSMUSG00000037808
AA Change: G124W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
148 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213416
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,828,812 (GRCm39) |
Q230* |
probably null |
Het |
| Akap5 |
C |
T |
12: 76,374,807 (GRCm39) |
P80S |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,606 (GRCm39) |
M366K |
probably benign |
Het |
| Ankef1 |
T |
A |
2: 136,392,429 (GRCm39) |
D539E |
probably benign |
Het |
| Anxa11 |
A |
G |
14: 25,870,553 (GRCm39) |
D39G |
unknown |
Het |
| Atp13a4 |
G |
T |
16: 29,275,447 (GRCm39) |
H346N |
probably damaging |
Het |
| Btnl1 |
A |
C |
17: 34,598,509 (GRCm39) |
T42P |
possibly damaging |
Het |
| Cul3 |
T |
A |
1: 80,300,754 (GRCm39) |
Y29F |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,638,544 (GRCm39) |
|
probably benign |
Het |
| Det1 |
A |
T |
7: 78,489,912 (GRCm39) |
V371E |
probably benign |
Het |
| Duoxa2 |
C |
A |
2: 122,132,330 (GRCm39) |
A248D |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,885 (GRCm39) |
I806K |
probably benign |
Het |
| Fhl5 |
T |
C |
4: 25,211,341 (GRCm39) |
E117G |
probably benign |
Het |
| Ighv15-2 |
T |
C |
12: 114,528,341 (GRCm39) |
I70V |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,973,385 (GRCm39) |
T768A |
probably benign |
Het |
| Itih1 |
A |
C |
14: 30,652,322 (GRCm39) |
D786E |
probably benign |
Het |
| Krt15 |
A |
G |
11: 100,022,839 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,857,746 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
G |
T |
17: 12,467,882 (GRCm39) |
Q1051K |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,482,815 (GRCm39) |
P634H |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,250,343 (GRCm39) |
D21G |
probably benign |
Het |
| Mre11a |
T |
C |
9: 14,726,505 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mzf1 |
T |
A |
7: 12,777,647 (GRCm39) |
T665S |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,262 (GRCm39) |
I46N |
possibly damaging |
Het |
| Otx2 |
A |
T |
14: 48,898,850 (GRCm39) |
V52D |
possibly damaging |
Het |
| Rnf157 |
C |
T |
11: 116,237,858 (GRCm39) |
|
probably null |
Het |
| Ssxa1 |
T |
A |
X: 20,987,394 (GRCm39) |
I115N |
unknown |
Het |
| Ube2q2l |
T |
C |
6: 136,378,056 (GRCm39) |
Q258R |
probably benign |
Het |
|
| Other mutations in Fam76b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Fam76b
|
APN |
9 |
13,748,180 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01346:Fam76b
|
APN |
9 |
13,741,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02100:Fam76b
|
APN |
9 |
13,755,416 (GRCm39) |
intron |
probably benign |
|
|
IGL02307:Fam76b
|
APN |
9 |
13,755,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02892:Fam76b
|
APN |
9 |
13,740,117 (GRCm39) |
missense |
probably null |
1.00 |
|
R1652:Fam76b
|
UTSW |
9 |
13,747,188 (GRCm39) |
missense |
probably benign |
|
|
R1966:Fam76b
|
UTSW |
9 |
13,739,362 (GRCm39) |
splice site |
probably null |
|
|
R3080:Fam76b
|
UTSW |
9 |
13,744,458 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7082:Fam76b
|
UTSW |
9 |
13,744,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Fam76b
|
UTSW |
9 |
13,742,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8402:Fam76b
|
UTSW |
9 |
13,750,972 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8836:Fam76b
|
UTSW |
9 |
13,755,381 (GRCm39) |
missense |
probably benign |
|
|
R9280:Fam76b
|
UTSW |
9 |
13,751,012 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Posted On |
2015-04-16 |
Incidental Mutation