Incidental Mutation 'R6765:Fhip2a'
ID |
531895 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip2a
|
Ensembl Gene |
ENSMUSG00000033478 |
Gene Name |
FHF complex subunit HOOK interacting protein 2A |
Synonyms |
Fam160b1 |
MMRRC Submission |
044881-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R6765 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
57349355-57378026 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57367177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 240
(D240G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036407]
|
AlphaFold |
Q8CDM8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036407
AA Change: D240G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000048903 Gene: ENSMUSG00000033478 AA Change: D240G
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
78 |
495 |
1.1e-144 |
PFAM |
low complexity region
|
713 |
724 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0721 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
C |
A |
7: 82,216,232 (GRCm39) |
D878E |
possibly damaging |
Het |
Adipor2 |
A |
C |
6: 119,334,203 (GRCm39) |
F336V |
possibly damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Aoc1 |
A |
G |
6: 48,882,871 (GRCm39) |
N249S |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,969,427 (GRCm39) |
L261Q |
probably damaging |
Het |
Ap3b1 |
T |
A |
13: 94,599,017 (GRCm39) |
D530E |
probably benign |
Het |
Arid4b |
T |
A |
13: 14,361,900 (GRCm39) |
M788K |
possibly damaging |
Het |
Atp2c2 |
A |
T |
8: 120,479,756 (GRCm39) |
I762F |
probably damaging |
Het |
Bhlhe23 |
C |
A |
2: 180,418,136 (GRCm39) |
R134L |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,777,934 (GRCm39) |
D687G |
probably damaging |
Het |
Ccdc136 |
G |
A |
6: 29,405,940 (GRCm39) |
M95I |
probably benign |
Het |
Cdk12 |
T |
A |
11: 98,115,355 (GRCm39) |
I832N |
unknown |
Het |
Clcn2 |
A |
C |
16: 20,526,418 (GRCm39) |
|
probably null |
Het |
Csrnp2 |
C |
T |
15: 100,380,574 (GRCm39) |
R239Q |
probably damaging |
Het |
Dhrs13 |
T |
A |
11: 77,927,965 (GRCm39) |
D270E |
probably benign |
Het |
Dlgap2 |
G |
A |
8: 14,793,284 (GRCm39) |
G426D |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Fam120a |
A |
G |
13: 49,045,440 (GRCm39) |
Y799H |
probably damaging |
Het |
Farp1 |
G |
A |
14: 121,460,066 (GRCm39) |
V112I |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,816,776 (GRCm39) |
I4170V |
probably benign |
Het |
Gm12185 |
A |
G |
11: 48,806,531 (GRCm39) |
V220A |
probably benign |
Het |
Gpr37l1 |
T |
C |
1: 135,094,860 (GRCm39) |
Y128C |
probably damaging |
Het |
Gsto2 |
A |
T |
19: 47,860,227 (GRCm39) |
R7* |
probably null |
Het |
Itih3 |
C |
T |
14: 30,631,430 (GRCm39) |
G822D |
probably benign |
Het |
Kcnu1 |
A |
T |
8: 26,403,673 (GRCm39) |
D728V |
probably damaging |
Het |
Khdc4 |
G |
T |
3: 88,593,736 (GRCm39) |
G42W |
probably damaging |
Het |
Lnpep |
G |
A |
17: 17,750,758 (GRCm39) |
T976I |
probably damaging |
Het |
Map1b |
A |
C |
13: 99,562,449 (GRCm39) |
H2420Q |
unknown |
Het |
Mc1r |
A |
G |
8: 124,134,435 (GRCm39) |
K63E |
probably damaging |
Het |
Mpped1 |
G |
A |
15: 83,720,584 (GRCm39) |
V15M |
probably damaging |
Het |
Ncor1 |
T |
C |
11: 62,264,272 (GRCm39) |
T103A |
probably benign |
Het |
Nhsl1 |
A |
T |
10: 18,407,062 (GRCm39) |
T1399S |
probably benign |
Het |
Nlrc5 |
C |
T |
8: 95,216,996 (GRCm39) |
T995M |
probably benign |
Het |
Nrbp1 |
G |
A |
5: 31,403,190 (GRCm39) |
|
probably null |
Het |
Or10g9 |
A |
C |
9: 39,912,493 (GRCm39) |
F10C |
probably damaging |
Het |
Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
Or8k27 |
T |
C |
2: 86,275,580 (GRCm39) |
T249A |
probably benign |
Het |
Pcdhb13 |
T |
C |
18: 37,576,663 (GRCm39) |
L347P |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,128,563 (GRCm39) |
T4047A |
probably benign |
Het |
Prrt2 |
T |
A |
7: 126,618,769 (GRCm39) |
D232V |
probably damaging |
Het |
Psmd5 |
A |
C |
2: 34,746,545 (GRCm39) |
M344R |
probably benign |
Het |
Pwp1 |
G |
A |
10: 85,720,397 (GRCm39) |
E345K |
probably damaging |
Het |
Qsox1 |
A |
G |
1: 155,666,851 (GRCm39) |
Y213H |
probably benign |
Het |
Rmc1 |
A |
G |
18: 12,309,203 (GRCm39) |
N92D |
possibly damaging |
Het |
Sclt1 |
T |
C |
3: 41,685,337 (GRCm39) |
R39G |
unknown |
Het |
Syne1 |
A |
T |
10: 5,093,285 (GRCm39) |
|
probably null |
Het |
Tmem163 |
G |
T |
1: 127,479,078 (GRCm39) |
A147E |
probably damaging |
Het |
Trav13n-4 |
A |
T |
14: 53,601,557 (GRCm39) |
M109L |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,039,790 (GRCm39) |
E1283G |
probably damaging |
Het |
Trpm6 |
T |
A |
19: 18,855,129 (GRCm39) |
D1929E |
probably damaging |
Het |
Upb1 |
A |
T |
10: 75,273,978 (GRCm39) |
D335V |
probably damaging |
Het |
Vps26b |
T |
C |
9: 26,924,104 (GRCm39) |
E213G |
probably damaging |
Het |
Vwc2 |
C |
T |
11: 11,104,215 (GRCm39) |
T249I |
probably benign |
Het |
Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,391,409 (GRCm39) |
C4692R |
unknown |
Het |
Zfp106 |
T |
C |
2: 120,369,935 (GRCm39) |
E29G |
probably damaging |
Het |
Zfp551 |
G |
A |
7: 12,150,767 (GRCm39) |
A214V |
possibly damaging |
Het |
Zfp981 |
T |
A |
4: 146,622,363 (GRCm39) |
H429Q |
probably benign |
Het |
|
Other mutations in Fhip2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00481:Fhip2a
|
APN |
19 |
57,369,777 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02642:Fhip2a
|
APN |
19 |
57,373,782 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL03152:Fhip2a
|
APN |
19 |
57,367,264 (GRCm39) |
missense |
probably damaging |
0.99 |
fredericksburg
|
UTSW |
19 |
57,372,555 (GRCm39) |
nonsense |
probably null |
|
williamsburg
|
UTSW |
19 |
57,372,697 (GRCm39) |
critical splice donor site |
probably null |
|
R0001:Fhip2a
|
UTSW |
19 |
57,370,188 (GRCm39) |
missense |
probably benign |
0.01 |
R0123:Fhip2a
|
UTSW |
19 |
57,369,839 (GRCm39) |
missense |
probably benign |
0.00 |
R0368:Fhip2a
|
UTSW |
19 |
57,357,010 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0446:Fhip2a
|
UTSW |
19 |
57,369,839 (GRCm39) |
missense |
probably benign |
0.00 |
R0508:Fhip2a
|
UTSW |
19 |
57,367,174 (GRCm39) |
missense |
probably benign |
0.04 |
R0926:Fhip2a
|
UTSW |
19 |
57,369,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R1122:Fhip2a
|
UTSW |
19 |
57,370,733 (GRCm39) |
missense |
probably benign |
0.00 |
R1344:Fhip2a
|
UTSW |
19 |
57,359,594 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1398:Fhip2a
|
UTSW |
19 |
57,361,358 (GRCm39) |
splice site |
probably benign |
|
R1418:Fhip2a
|
UTSW |
19 |
57,359,594 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1506:Fhip2a
|
UTSW |
19 |
57,357,007 (GRCm39) |
missense |
probably benign |
0.30 |
R1530:Fhip2a
|
UTSW |
19 |
57,374,737 (GRCm39) |
missense |
probably damaging |
0.99 |
R1695:Fhip2a
|
UTSW |
19 |
57,367,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R1868:Fhip2a
|
UTSW |
19 |
57,374,737 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1974:Fhip2a
|
UTSW |
19 |
57,373,809 (GRCm39) |
missense |
probably damaging |
0.99 |
R2004:Fhip2a
|
UTSW |
19 |
57,370,324 (GRCm39) |
missense |
probably benign |
|
R2893:Fhip2a
|
UTSW |
19 |
57,372,601 (GRCm39) |
missense |
probably benign |
0.01 |
R3011:Fhip2a
|
UTSW |
19 |
57,373,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R3963:Fhip2a
|
UTSW |
19 |
57,361,442 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4416:Fhip2a
|
UTSW |
19 |
57,373,829 (GRCm39) |
splice site |
probably null |
|
R4613:Fhip2a
|
UTSW |
19 |
57,359,619 (GRCm39) |
missense |
probably damaging |
0.99 |
R4735:Fhip2a
|
UTSW |
19 |
57,359,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R4893:Fhip2a
|
UTSW |
19 |
57,370,188 (GRCm39) |
missense |
probably benign |
0.01 |
R4937:Fhip2a
|
UTSW |
19 |
57,367,069 (GRCm39) |
missense |
probably benign |
|
R5049:Fhip2a
|
UTSW |
19 |
57,374,737 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5050:Fhip2a
|
UTSW |
19 |
57,371,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R5080:Fhip2a
|
UTSW |
19 |
57,361,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R5176:Fhip2a
|
UTSW |
19 |
57,359,613 (GRCm39) |
missense |
probably damaging |
0.98 |
R5317:Fhip2a
|
UTSW |
19 |
57,370,141 (GRCm39) |
splice site |
probably null |
|
R5347:Fhip2a
|
UTSW |
19 |
57,367,051 (GRCm39) |
missense |
probably benign |
|
R5497:Fhip2a
|
UTSW |
19 |
57,369,583 (GRCm39) |
splice site |
probably null |
|
R5969:Fhip2a
|
UTSW |
19 |
57,372,555 (GRCm39) |
nonsense |
probably null |
|
R6418:Fhip2a
|
UTSW |
19 |
57,370,166 (GRCm39) |
missense |
probably benign |
0.18 |
R6426:Fhip2a
|
UTSW |
19 |
57,371,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R7472:Fhip2a
|
UTSW |
19 |
57,357,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R7583:Fhip2a
|
UTSW |
19 |
57,367,034 (GRCm39) |
missense |
probably benign |
0.01 |
R7672:Fhip2a
|
UTSW |
19 |
57,373,750 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8159:Fhip2a
|
UTSW |
19 |
57,372,697 (GRCm39) |
critical splice donor site |
probably null |
|
R8510:Fhip2a
|
UTSW |
19 |
57,370,752 (GRCm39) |
missense |
probably benign |
0.16 |
R9060:Fhip2a
|
UTSW |
19 |
57,361,450 (GRCm39) |
missense |
probably damaging |
0.99 |
R9214:Fhip2a
|
UTSW |
19 |
57,373,756 (GRCm39) |
missense |
probably damaging |
0.99 |
R9233:Fhip2a
|
UTSW |
19 |
57,369,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R9689:Fhip2a
|
UTSW |
19 |
57,369,710 (GRCm39) |
missense |
probably benign |
0.01 |
X0023:Fhip2a
|
UTSW |
19 |
57,372,579 (GRCm39) |
nonsense |
probably null |
|
X0062:Fhip2a
|
UTSW |
19 |
57,373,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGAGCTCTGAGTGTCATC -3'
(R):5'- AAGAACGCACACGGAACTTGTC -3'
Sequencing Primer
(F):5'- AGTGTCATCTCAGAGGATGGCC -3'
(R):5'- GCACACGGAACTTGTCAAATTC -3'
|
Posted On |
2018-08-29 |