Incidental Mutation 'R5050:Fhip2a'
ID |
394623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip2a
|
Ensembl Gene |
ENSMUSG00000033478 |
Gene Name |
FHF complex subunit HOOK interacting protein 2A |
Synonyms |
Fam160b1 |
MMRRC Submission |
042640-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R5050 (G1)
|
Quality Score |
108 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
57349355-57378026 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57371602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 571
(F571L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036407]
|
AlphaFold |
Q8CDM8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036407
AA Change: F571L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048903 Gene: ENSMUSG00000033478 AA Change: F571L
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 |
0.4093 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,989,822 (GRCm39) |
|
probably benign |
Het |
Ap3m1 |
A |
G |
14: 21,094,843 (GRCm39) |
I108T |
probably benign |
Het |
Apobec1 |
T |
C |
6: 122,568,061 (GRCm39) |
M1V |
probably null |
Het |
Aqr |
A |
T |
2: 113,943,090 (GRCm39) |
L1161* |
probably null |
Het |
Aqr |
A |
T |
2: 114,000,506 (GRCm39) |
|
probably null |
Het |
Arhgef37 |
A |
G |
18: 61,637,402 (GRCm39) |
I420T |
probably benign |
Het |
Cacna1g |
C |
T |
11: 94,350,541 (GRCm39) |
E435K |
probably damaging |
Het |
Card6 |
G |
T |
15: 5,129,858 (GRCm39) |
H513N |
probably benign |
Het |
Ccdc158 |
A |
C |
5: 92,814,738 (GRCm39) |
F29L |
probably benign |
Het |
Ccr6 |
T |
C |
17: 8,474,936 (GRCm39) |
L47S |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,900,018 (GRCm39) |
Y444* |
probably null |
Het |
Cdh17 |
A |
G |
4: 11,784,654 (GRCm39) |
Y270C |
probably damaging |
Het |
Cdh9 |
T |
C |
15: 16,778,233 (GRCm39) |
F16S |
probably benign |
Het |
Cdkl1 |
T |
C |
12: 69,804,014 (GRCm39) |
K141R |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,664,578 (GRCm39) |
I494F |
probably damaging |
Het |
Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
Dhrs7 |
T |
A |
12: 72,704,184 (GRCm39) |
D104V |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,922,500 (GRCm39) |
L553Q |
probably benign |
Het |
Dnah7a |
T |
G |
1: 53,536,255 (GRCm39) |
D2596A |
probably benign |
Het |
Dync1li2 |
T |
C |
8: 105,164,073 (GRCm39) |
K151E |
probably damaging |
Het |
Eno4 |
C |
T |
19: 58,943,928 (GRCm39) |
H297Y |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,019,156 (GRCm39) |
D976E |
possibly damaging |
Het |
Gm4553 |
C |
A |
7: 141,718,773 (GRCm39) |
K218N |
unknown |
Het |
Gpld1 |
A |
T |
13: 25,146,739 (GRCm39) |
T234S |
probably benign |
Het |
Gtpbp6 |
A |
T |
5: 110,252,567 (GRCm39) |
|
probably benign |
Het |
Gucy2g |
T |
C |
19: 55,229,367 (GRCm39) |
E101G |
probably benign |
Het |
Gvin3 |
T |
C |
7: 106,196,179 (GRCm39) |
|
noncoding transcript |
Het |
Hira |
G |
A |
16: 18,744,609 (GRCm39) |
R442K |
possibly damaging |
Het |
Hrh3 |
A |
G |
2: 179,742,350 (GRCm39) |
L394P |
probably damaging |
Het |
Igkv1-110 |
T |
A |
6: 68,248,176 (GRCm39) |
F95Y |
probably damaging |
Het |
Iqgap3 |
T |
G |
3: 87,997,493 (GRCm39) |
V223G |
probably damaging |
Het |
Itpk1 |
T |
C |
12: 102,671,069 (GRCm39) |
T3A |
probably damaging |
Het |
Jag1 |
A |
G |
2: 136,927,074 (GRCm39) |
V895A |
possibly damaging |
Het |
Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
Large2 |
A |
T |
2: 92,198,124 (GRCm39) |
L282Q |
probably benign |
Het |
Lgmn |
A |
G |
12: 102,369,680 (GRCm39) |
|
probably null |
Het |
Lrp4 |
A |
T |
2: 91,322,767 (GRCm39) |
I1119F |
probably benign |
Het |
Map3k19 |
T |
C |
1: 127,751,299 (GRCm39) |
H684R |
probably benign |
Het |
Mier3 |
C |
T |
13: 111,851,107 (GRCm39) |
A367V |
possibly damaging |
Het |
Mpdz |
A |
G |
4: 81,213,685 (GRCm39) |
V1579A |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,929,932 (GRCm39) |
D6V |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,473,670 (GRCm39) |
I1568V |
probably benign |
Het |
Or52e8b |
T |
A |
7: 104,673,594 (GRCm39) |
I198F |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,127,766 (GRCm39) |
|
probably benign |
Het |
Plek |
T |
C |
11: 16,945,216 (GRCm39) |
D38G |
probably damaging |
Het |
Polr2f |
A |
G |
15: 79,028,862 (GRCm39) |
|
probably benign |
Het |
Samsn1 |
A |
G |
16: 75,685,645 (GRCm39) |
S38P |
probably benign |
Het |
Sf1 |
C |
T |
19: 6,422,589 (GRCm39) |
T248I |
probably damaging |
Het |
Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
Sharpin |
A |
T |
15: 76,232,530 (GRCm39) |
L160H |
probably damaging |
Het |
Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
Syn3 |
T |
C |
10: 86,243,532 (GRCm39) |
T136A |
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,176,278 (GRCm39) |
V335M |
possibly damaging |
Het |
Tedc1 |
G |
T |
12: 113,120,325 (GRCm39) |
V56L |
possibly damaging |
Het |
Tenm4 |
T |
C |
7: 96,544,995 (GRCm39) |
L2337P |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,715,155 (GRCm39) |
|
probably benign |
Het |
Tysnd1 |
T |
A |
10: 61,532,050 (GRCm39) |
I234N |
probably damaging |
Het |
Vmn2r51 |
T |
C |
7: 9,834,349 (GRCm39) |
K230E |
probably damaging |
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 |
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'- AGCCTTAACTTAATCTGAGGGC -3'
(R):5'- CAGGTGAACCTACGCCTTTC -3'
Sequencing Primer
(F):5'- GCAGAGGCCATTTATCAAAATCCG -3'
(R):5'- CTCTGCAGTCAGGGTTGC -3'
|
Posted On |
2016-06-15 |