Incidental Mutation 'R5080:Fhip2a'
ID |
453360 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip2a
|
Ensembl Gene |
ENSMUSG00000033478 |
Gene Name |
FHF complex subunit HOOK interacting protein 2A |
Synonyms |
Fam160b1 |
MMRRC Submission |
042669-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R5080 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
57349355-57378026 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57361713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 134
(K134I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036407]
|
AlphaFold |
Q8CDM8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036407
AA Change: K134I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048903 Gene: ENSMUSG00000033478 AA Change: K134I
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 |
0.4723 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.5%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
G |
A |
14: 103,286,744 (GRCm39) |
G16S |
possibly damaging |
Het |
Adcy4 |
A |
T |
14: 56,009,832 (GRCm39) |
M740K |
probably damaging |
Het |
Atp1a2 |
T |
C |
1: 172,112,012 (GRCm39) |
|
probably benign |
Het |
Atrn |
T |
A |
2: 130,812,044 (GRCm39) |
I663N |
possibly damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,567,394 (GRCm39) |
|
probably null |
Het |
Carf |
C |
A |
1: 60,189,772 (GRCm39) |
Q631K |
probably damaging |
Het |
Ces1d |
T |
C |
8: 93,908,175 (GRCm39) |
D306G |
probably benign |
Het |
Corin |
T |
A |
5: 72,511,194 (GRCm39) |
|
probably benign |
Het |
Csf1r |
T |
C |
18: 61,257,373 (GRCm39) |
F575L |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,247,690 (GRCm39) |
D181G |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,162,565 (GRCm39) |
M1I |
probably null |
Het |
Dnah7b |
C |
T |
1: 46,221,540 (GRCm39) |
R1215* |
probably null |
Het |
Dpp3 |
T |
A |
19: 4,965,108 (GRCm39) |
D464V |
probably benign |
Het |
Drosha |
C |
A |
15: 12,842,229 (GRCm39) |
A344D |
probably benign |
Het |
Fat3 |
G |
T |
9: 15,910,634 (GRCm39) |
S1789R |
probably benign |
Het |
Frg2f1 |
T |
C |
4: 119,388,230 (GRCm39) |
T90A |
possibly damaging |
Het |
Frrs1 |
T |
C |
3: 116,696,585 (GRCm39) |
I544T |
probably benign |
Het |
Gm20939 |
T |
C |
17: 95,184,419 (GRCm39) |
C356R |
probably damaging |
Het |
Ifi206 |
T |
A |
1: 173,301,414 (GRCm39) |
I755F |
possibly damaging |
Het |
Kntc1 |
T |
A |
5: 123,900,649 (GRCm39) |
V249E |
possibly damaging |
Het |
Lama5 |
A |
T |
2: 179,848,993 (GRCm39) |
L230* |
probably null |
Het |
Lce1e |
C |
T |
3: 92,615,137 (GRCm39) |
C70Y |
unknown |
Het |
Ltbp2 |
T |
C |
12: 84,850,638 (GRCm39) |
N892S |
probably damaging |
Het |
Mfsd4b5 |
T |
A |
10: 39,846,570 (GRCm39) |
M337L |
probably damaging |
Het |
Noxo1 |
T |
A |
17: 24,918,331 (GRCm39) |
C164S |
probably damaging |
Het |
Or2y1b |
G |
T |
11: 49,208,914 (GRCm39) |
M180I |
probably benign |
Het |
Or5j3 |
G |
A |
2: 86,128,258 (GRCm39) |
V33M |
probably benign |
Het |
Osbpl6 |
T |
C |
2: 76,354,429 (GRCm39) |
S15P |
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,770,750 (GRCm39) |
Y1076C |
probably benign |
Het |
Pik3c2a |
T |
A |
7: 115,947,509 (GRCm39) |
H1391L |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,316,742 (GRCm39) |
Y573C |
probably benign |
Het |
Prpf3 |
T |
A |
3: 95,741,109 (GRCm39) |
H600L |
probably benign |
Het |
Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
Rpl15-ps6 |
A |
G |
15: 52,341,446 (GRCm39) |
|
noncoding transcript |
Het |
Serpini1 |
T |
C |
3: 75,523,967 (GRCm39) |
S192P |
probably damaging |
Het |
Sp110 |
G |
T |
1: 85,523,776 (GRCm39) |
Y18* |
probably null |
Het |
Stard6 |
A |
T |
18: 70,629,293 (GRCm39) |
I126F |
probably damaging |
Het |
Strip2 |
T |
A |
6: 29,945,592 (GRCm39) |
L660H |
probably damaging |
Het |
Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
Tns1 |
G |
T |
1: 73,992,099 (GRCm39) |
P860T |
probably damaging |
Het |
Togaram1 |
T |
C |
12: 65,030,177 (GRCm39) |
S994P |
probably benign |
Het |
Tomm34 |
G |
A |
2: 163,912,816 (GRCm39) |
|
probably benign |
Het |
Trank1 |
G |
A |
9: 111,218,289 (GRCm39) |
E1890K |
probably damaging |
Het |
Wasf3 |
C |
T |
5: 146,397,907 (GRCm39) |
H225Y |
probably benign |
Het |
Wdr37 |
A |
T |
13: 8,897,710 (GRCm39) |
|
probably null |
Het |
Zbtb7c |
A |
C |
18: 76,270,413 (GRCm39) |
D167A |
probably benign |
Het |
Zkscan4 |
A |
G |
13: 21,665,498 (GRCm39) |
T158A |
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 |
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'- TGTGCAGGTATCCATTCCCC -3'
(R):5'- AAACCTGAATTGCTCCAGAGG -3'
Sequencing Primer
(F):5'- TTCCCCTGGCTTCAGATTAAAAAC -3'
(R):5'- TGAATTGCTCCAGAGGATTTAATTTC -3'
|
Posted On |
2017-02-02 |