Incidental Mutation 'R5317:Fhip2a'
ID |
405897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip2a
|
Ensembl Gene |
ENSMUSG00000033478 |
Gene Name |
FHF complex subunit HOOK interacting protein 2A |
Synonyms |
Fam160b1 |
MMRRC Submission |
042900-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R5317 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
57349355-57378026 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 57370141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036407]
[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 |
|
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: 96.8%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arih1 |
A |
C |
9: 59,300,619 (GRCm39) |
H542Q |
probably benign |
Het |
Ccn4 |
T |
G |
15: 66,789,131 (GRCm39) |
S206A |
probably benign |
Het |
Cnot8 |
T |
C |
11: 58,004,029 (GRCm39) |
S155P |
probably damaging |
Het |
Dcc |
C |
T |
18: 71,517,226 (GRCm39) |
E810K |
possibly damaging |
Het |
Dmrt2 |
T |
C |
19: 25,650,844 (GRCm39) |
V10A |
probably benign |
Het |
Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
Eif4a3 |
G |
T |
11: 119,185,490 (GRCm39) |
H117N |
probably damaging |
Het |
Gpr179 |
T |
A |
11: 97,228,671 (GRCm39) |
Q1161H |
probably damaging |
Het |
Grm1 |
T |
G |
10: 10,622,443 (GRCm39) |
M427L |
possibly damaging |
Het |
Grxcr2 |
T |
A |
18: 42,131,916 (GRCm39) |
H51L |
probably damaging |
Het |
Il1rn |
C |
T |
2: 24,239,554 (GRCm39) |
T150I |
probably benign |
Het |
Kcnc4 |
C |
T |
3: 107,366,055 (GRCm39) |
R51H |
probably damaging |
Het |
Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,504,971 (GRCm39) |
I2332M |
possibly damaging |
Het |
Mcm9 |
G |
A |
10: 53,414,330 (GRCm39) |
P250L |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mtmr2 |
T |
C |
9: 13,704,475 (GRCm39) |
F201L |
probably benign |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pan3 |
T |
C |
5: 147,480,020 (GRCm39) |
|
probably null |
Het |
Pcdhgb7 |
T |
A |
18: 37,885,887 (GRCm39) |
D352E |
probably benign |
Het |
Pdgfa |
A |
G |
5: 138,974,102 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
C |
1: 20,520,528 (GRCm39) |
D1938G |
probably damaging |
Het |
Plac8 |
C |
T |
5: 100,704,345 (GRCm39) |
|
probably null |
Het |
Rab11fip3 |
T |
C |
17: 26,287,052 (GRCm39) |
E367G |
possibly damaging |
Het |
Sgo2a |
C |
T |
1: 58,054,683 (GRCm39) |
P289L |
probably benign |
Het |
Slc22a18 |
T |
C |
7: 143,052,896 (GRCm39) |
Y374H |
probably damaging |
Het |
Slco2a1 |
T |
C |
9: 102,956,778 (GRCm39) |
V530A |
probably benign |
Het |
Spty2d1 |
A |
T |
7: 46,648,049 (GRCm39) |
S293R |
possibly damaging |
Het |
Stt3b |
G |
T |
9: 115,081,578 (GRCm39) |
Y569* |
probably null |
Het |
Tas2r140 |
A |
G |
6: 133,032,543 (GRCm39) |
Y72H |
probably benign |
Het |
Usp35 |
C |
T |
7: 96,960,846 (GRCm39) |
R860H |
probably damaging |
Het |
Vmn2r130 |
T |
A |
17: 23,282,557 (GRCm39) |
M79K |
probably benign |
Het |
Vsig10l |
T |
C |
7: 43,114,247 (GRCm39) |
S190P |
probably damaging |
Het |
Wwc2 |
C |
T |
8: 48,300,590 (GRCm39) |
D958N |
unknown |
Het |
Zfp318 |
AAGAAGG |
A |
17: 46,723,463 (GRCm39) |
|
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 |
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'- TTCAACTGTGCTGGACTTAGAG -3'
(R):5'- ACAGAGCGGACACTTACACG -3'
Sequencing Primer
(F):5'- CAACTGTGCTGGACTTAGAGTCTTG -3'
(R):5'- TTACACGGCGCCTGCTATCAG -3'
|
Posted On |
2016-07-22 |