Incidental Mutation 'R4416:Fhip2a'
ID |
326860 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip2a
|
Ensembl Gene |
ENSMUSG00000033478 |
Gene Name |
FHF complex subunit HOOK interacting protein 2A |
Synonyms |
Fam160b1 |
MMRRC Submission |
041137-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R4416 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
57349355-57378026 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
G to T
at 57373829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036407]
|
AlphaFold |
Q8CDM8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036407
|
SMART Domains |
Protein: ENSMUSP00000048903 Gene: ENSMUSG00000033478
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
78 |
495 |
1.1e-144 |
PFAM |
low complexity region
|
713 |
724 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
A |
15: 59,888,272 (GRCm39) |
E56V |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,859,531 (GRCm39) |
|
probably null |
Het |
Bnc1 |
G |
T |
7: 81,618,708 (GRCm39) |
H786N |
probably benign |
Het |
Cav1 |
T |
A |
6: 17,339,248 (GRCm39) |
M100K |
probably benign |
Het |
Cdk9 |
A |
G |
2: 32,598,084 (GRCm39) |
L273P |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,026,703 (GRCm39) |
Q484R |
probably benign |
Het |
Elfn1 |
T |
C |
5: 139,957,949 (GRCm39) |
S318P |
possibly damaging |
Het |
Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
Frmd6 |
T |
A |
12: 70,924,023 (GRCm39) |
Y94N |
probably benign |
Het |
Gdpd1 |
A |
T |
11: 86,926,114 (GRCm39) |
V277D |
probably benign |
Het |
Grik1 |
C |
A |
16: 87,848,349 (GRCm39) |
V140L |
probably benign |
Het |
Grpel1 |
A |
G |
5: 36,628,616 (GRCm39) |
H175R |
probably damaging |
Het |
Gtdc1 |
G |
T |
2: 44,465,602 (GRCm39) |
|
probably null |
Het |
Hivep2 |
A |
T |
10: 14,004,914 (GRCm39) |
Q504L |
probably benign |
Het |
Icos |
A |
T |
1: 61,033,849 (GRCm39) |
I160L |
probably benign |
Het |
Igsf9b |
G |
T |
9: 27,234,213 (GRCm39) |
C442F |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,565,562 (GRCm39) |
V1062A |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 40,553,679 (GRCm39) |
V386I |
unknown |
Het |
Lrp2 |
G |
T |
2: 69,357,575 (GRCm39) |
F409L |
probably benign |
Het |
Nadk |
T |
G |
4: 155,672,183 (GRCm39) |
Y291* |
probably null |
Het |
Nudt6 |
A |
T |
3: 37,459,378 (GRCm39) |
|
probably null |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Or2ag1b |
G |
A |
7: 106,288,218 (GRCm39) |
T240I |
probably benign |
Het |
Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
Or8d6 |
A |
G |
9: 39,853,724 (GRCm39) |
H56R |
probably damaging |
Het |
Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
Pds5b |
C |
T |
5: 150,659,861 (GRCm39) |
P275S |
probably damaging |
Het |
Pdzd7 |
T |
A |
19: 45,029,019 (GRCm39) |
E117V |
probably damaging |
Het |
Pik3ca |
T |
C |
3: 32,515,679 (GRCm39) |
V784A |
probably damaging |
Het |
Polr3e |
T |
C |
7: 120,538,280 (GRCm39) |
|
probably null |
Het |
Rab3gap2 |
A |
T |
1: 185,014,544 (GRCm39) |
D1231V |
probably benign |
Het |
Rapgef2 |
C |
A |
3: 78,976,364 (GRCm39) |
G1481* |
probably null |
Het |
Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
Rrm1 |
A |
G |
7: 102,097,008 (GRCm39) |
D96G |
probably benign |
Het |
Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Srp9 |
A |
T |
1: 181,958,976 (GRCm39) |
M50L |
probably benign |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Sult1d1 |
A |
G |
5: 87,706,435 (GRCm39) |
F169S |
probably damaging |
Het |
Tmem63c |
C |
G |
12: 87,128,676 (GRCm39) |
T567R |
probably benign |
Het |
Tmf1 |
G |
T |
6: 97,155,949 (GRCm39) |
F12L |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,089,071 (GRCm39) |
I342T |
probably damaging |
Het |
Veph1 |
A |
T |
3: 65,968,606 (GRCm39) |
N712K |
probably damaging |
Het |
Vti1a |
T |
G |
19: 55,369,380 (GRCm39) |
S91A |
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 |
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 |
R6765:Fhip2a
|
UTSW |
19 |
57,367,177 (GRCm39) |
missense |
probably benign |
|
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'- TTTAAGTCTCAGCACTGTGGATGG -3'
(R):5'- GCCCGTGTTTTAGTGACTTCAG -3'
Sequencing Primer
(F):5'- TCCTGGAGGCACAGACAC -3'
(R):5'- AGTGACTTCAGTGAATTCCTGTAGC -3'
|
Posted On |
2015-07-07 |