Incidental Mutation 'R0043:Fhip2b'
ID |
15883 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip2b
|
Ensembl Gene |
ENSMUSG00000022095 |
Gene Name |
FHF complex subunit HOOK interacting protein 2B |
Synonyms |
G430067P06Rik, Fam160b2, Rai16 |
MMRRC Submission |
038337-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R0043 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
70820736-70837275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 70826101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 304
(S304T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022690]
|
AlphaFold |
Q80YR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022690
AA Change: S304T
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000022690 Gene: ENSMUSG00000022095 AA Change: S304T
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
79 |
477 |
7.7e-112 |
PFAM |
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2867 |
Coding Region Coverage |
- 1x: 81.2%
- 3x: 72.1%
- 10x: 49.9%
- 20x: 30.2%
|
Validation Efficiency |
90% (56/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accs |
A |
G |
2: 93,672,230 (GRCm39) |
Y213H |
probably benign |
Het |
Adcy9 |
A |
G |
16: 4,106,879 (GRCm39) |
L982P |
probably benign |
Het |
Cntnap2 |
T |
A |
6: 46,460,917 (GRCm39) |
V651E |
probably benign |
Het |
Cstf3 |
A |
T |
2: 104,475,430 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,996,362 (GRCm39) |
D2658G |
probably damaging |
Het |
Dsg4 |
T |
C |
18: 20,586,029 (GRCm39) |
S240P |
probably damaging |
Het |
Dync2h1 |
C |
T |
9: 7,005,574 (GRCm39) |
M3765I |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,879,874 (GRCm39) |
|
probably benign |
Het |
Gata4 |
T |
C |
14: 63,440,750 (GRCm39) |
|
probably benign |
Het |
Hyal1 |
T |
C |
9: 107,456,519 (GRCm39) |
L152P |
probably benign |
Het |
Ifi207 |
T |
A |
1: 173,556,678 (GRCm39) |
T694S |
possibly damaging |
Het |
Kalrn |
C |
A |
16: 33,875,276 (GRCm39) |
G99W |
probably damaging |
Het |
Man1a2 |
A |
T |
3: 100,495,196 (GRCm39) |
W448R |
probably damaging |
Het |
Mfsd6 |
A |
T |
1: 52,747,811 (GRCm39) |
Y351* |
probably null |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mki67 |
T |
C |
7: 135,302,310 (GRCm39) |
D908G |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,603,379 (GRCm39) |
S1057P |
possibly damaging |
Het |
Rasgef1b |
T |
C |
5: 99,391,053 (GRCm39) |
Y102C |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,179,764 (GRCm39) |
V1281A |
probably benign |
Het |
Sfmbt1 |
T |
A |
14: 30,538,764 (GRCm39) |
S794R |
probably damaging |
Het |
Skint3 |
T |
A |
4: 112,134,820 (GRCm39) |
V331E |
probably damaging |
Het |
Spata31e2 |
T |
A |
1: 26,722,883 (GRCm39) |
I766F |
possibly damaging |
Het |
Spata6 |
A |
T |
4: 111,638,002 (GRCm39) |
R277S |
probably damaging |
Het |
Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
Trappc11 |
A |
G |
8: 47,958,610 (GRCm39) |
|
probably benign |
Het |
Ube2u |
G |
T |
4: 100,340,026 (GRCm39) |
V66F |
possibly damaging |
Het |
Usp42 |
A |
C |
5: 143,700,465 (GRCm39) |
V1186G |
probably benign |
Het |
Yme1l1 |
T |
C |
2: 23,077,815 (GRCm39) |
I419T |
probably damaging |
Het |
|
Other mutations in Fhip2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01366:Fhip2b
|
APN |
14 |
70,822,813 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01862:Fhip2b
|
APN |
14 |
70,825,130 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02306:Fhip2b
|
APN |
14 |
70,826,437 (GRCm39) |
missense |
probably benign |
|
IGL02534:Fhip2b
|
APN |
14 |
70,823,630 (GRCm39) |
missense |
probably benign |
|
IGL02534:Fhip2b
|
APN |
14 |
70,823,128 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03071:Fhip2b
|
APN |
14 |
70,823,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03162:Fhip2b
|
APN |
14 |
70,824,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03166:Fhip2b
|
APN |
14 |
70,827,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03134:Fhip2b
|
UTSW |
14 |
70,826,149 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0628:Fhip2b
|
UTSW |
14 |
70,825,161 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0691:Fhip2b
|
UTSW |
14 |
70,825,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R1680:Fhip2b
|
UTSW |
14 |
70,824,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Fhip2b
|
UTSW |
14 |
70,831,438 (GRCm39) |
missense |
probably damaging |
0.98 |
R2059:Fhip2b
|
UTSW |
14 |
70,822,489 (GRCm39) |
missense |
possibly damaging |
0.54 |
R2362:Fhip2b
|
UTSW |
14 |
70,823,805 (GRCm39) |
missense |
probably benign |
0.18 |
R3423:Fhip2b
|
UTSW |
14 |
70,824,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R4233:Fhip2b
|
UTSW |
14 |
70,824,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R4770:Fhip2b
|
UTSW |
14 |
70,825,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R5903:Fhip2b
|
UTSW |
14 |
70,829,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R6217:Fhip2b
|
UTSW |
14 |
70,829,198 (GRCm39) |
splice site |
probably null |
|
R6665:Fhip2b
|
UTSW |
14 |
70,823,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R7424:Fhip2b
|
UTSW |
14 |
70,831,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R9176:Fhip2b
|
UTSW |
14 |
70,826,540 (GRCm39) |
missense |
probably benign |
0.40 |
R9393:Fhip2b
|
UTSW |
14 |
70,831,463 (GRCm39) |
nonsense |
probably null |
|
R9486:Fhip2b
|
UTSW |
14 |
70,826,479 (GRCm39) |
missense |
probably benign |
0.00 |
R9529:Fhip2b
|
UTSW |
14 |
70,822,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R9610:Fhip2b
|
UTSW |
14 |
70,824,258 (GRCm39) |
missense |
probably benign |
0.44 |
R9611:Fhip2b
|
UTSW |
14 |
70,824,258 (GRCm39) |
missense |
probably benign |
0.44 |
R9646:Fhip2b
|
UTSW |
14 |
70,827,808 (GRCm39) |
missense |
probably damaging |
0.99 |
R9699:Fhip2b
|
UTSW |
14 |
70,825,179 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9760:Fhip2b
|
UTSW |
14 |
70,827,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Fhip2b
|
UTSW |
14 |
70,823,644 (GRCm39) |
missense |
not run |
|
Z1177:Fhip2b
|
UTSW |
14 |
70,823,644 (GRCm39) |
missense |
not run |
|
|
Posted On |
2013-01-08 |