Incidental Mutation 'R6665:Fhip2b'
ID |
526948 |
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 |
044785-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R6665 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
70820736-70837275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 70823078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 659
(L659Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022690]
[ENSMUST00000089049]
[ENSMUST00000228554]
|
AlphaFold |
Q80YR2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022690
AA Change: L659Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022690 Gene: ENSMUSG00000022095 AA Change: L659Q
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
79 |
477 |
7.7e-112 |
PFAM |
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089049
|
SMART Domains |
Protein: ENSMUSP00000086450 Gene: ENSMUSG00000045211
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
Pfam:NUDIX
|
44 |
165 |
2.5e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228554
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
A |
G |
9: 30,815,775 (GRCm39) |
|
probably null |
Het |
Adamts16 |
T |
G |
13: 70,927,689 (GRCm39) |
K517Q |
probably damaging |
Het |
Atp9b |
A |
C |
18: 80,960,950 (GRCm39) |
V87G |
probably benign |
Het |
Avil |
A |
G |
10: 126,856,394 (GRCm39) |
K808E |
probably damaging |
Het |
Bin2 |
T |
C |
15: 100,554,676 (GRCm39) |
E49G |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,508,092 (GRCm39) |
Y652C |
probably damaging |
Het |
Cd6 |
T |
C |
19: 10,768,367 (GRCm39) |
N541D |
probably benign |
Het |
Col28a1 |
A |
G |
6: 8,062,277 (GRCm39) |
V671A |
probably benign |
Het |
Dock6 |
C |
T |
9: 21,751,208 (GRCm39) |
C355Y |
probably damaging |
Het |
Dsc2 |
A |
G |
18: 20,183,205 (GRCm39) |
F71S |
probably damaging |
Het |
Dusp8 |
G |
A |
7: 141,643,842 (GRCm39) |
P24S |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,107,098 (GRCm39) |
Y1151C |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,562,077 (GRCm39) |
Y810C |
probably damaging |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Hexb |
T |
C |
13: 97,315,893 (GRCm39) |
N380D |
probably benign |
Het |
Ice1 |
T |
C |
13: 70,751,592 (GRCm39) |
E1498G |
possibly damaging |
Het |
Lrif1 |
T |
A |
3: 106,642,659 (GRCm39) |
|
probably null |
Het |
Myo9a |
G |
T |
9: 59,779,155 (GRCm39) |
G1637V |
probably benign |
Het |
Myod1 |
A |
T |
7: 46,026,281 (GRCm39) |
H62L |
probably damaging |
Het |
Myoz3 |
A |
C |
18: 60,709,495 (GRCm39) |
L222R |
probably damaging |
Het |
Naca |
T |
A |
10: 127,884,227 (GRCm39) |
N2180K |
probably damaging |
Het |
Or6c76 |
T |
C |
10: 129,612,116 (GRCm39) |
F111S |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,955,702 (GRCm39) |
V405A |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,603,914 (GRCm39) |
|
probably null |
Het |
Rab32 |
T |
C |
10: 10,433,846 (GRCm39) |
|
probably benign |
Het |
Serpinb10 |
A |
C |
1: 107,474,597 (GRCm39) |
N253T |
possibly damaging |
Het |
Slc13a5 |
C |
T |
11: 72,151,186 (GRCm39) |
V131I |
probably damaging |
Het |
Slc25a40 |
A |
G |
5: 8,502,788 (GRCm39) |
N290S |
probably benign |
Het |
Slc6a6 |
T |
C |
6: 91,703,020 (GRCm39) |
V131A |
probably benign |
Het |
Spef2 |
A |
T |
15: 9,600,604 (GRCm39) |
|
probably null |
Het |
Stxbp2 |
A |
G |
8: 3,691,998 (GRCm39) |
M547V |
probably benign |
Het |
Tmem247 |
A |
T |
17: 87,225,998 (GRCm39) |
Q146L |
probably benign |
Het |
Vmn2r67 |
T |
C |
7: 84,785,900 (GRCm39) |
I702V |
probably benign |
Het |
Zmynd15 |
T |
C |
11: 70,355,636 (GRCm39) |
S436P |
probably benign |
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 |
R0043:Fhip2b
|
UTSW |
14 |
70,826,101 (GRCm39) |
missense |
probably benign |
0.45 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCATTAAGTCACCGATCACC -3'
(R):5'- AGTGCAAACATGCTCAGCCTC -3'
Sequencing Primer
(F):5'- TGCATTAAGTCACCGATCACCTAGAG -3'
(R):5'- AAACATGCTCAGCCTCGGTTG -3'
|
Posted On |
2018-07-23 |