Incidental Mutation 'R3423:Fhip2b'
ID |
267132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip2b
|
Ensembl Gene |
ENSMUSG00000022095 |
Gene Name |
FHF complex subunit HOOK interacting protein 2B |
Synonyms |
G430067P06Rik, Fam160b2, Rai16 |
MMRRC Submission |
040641-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R3423 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
70820736-70837275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 70824025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 535
(T535M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022690]
[ENSMUST00000089049]
[ENSMUST00000228554]
|
AlphaFold |
Q80YR2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022690
AA Change: T535M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022690 Gene: ENSMUSG00000022095 AA Change: T535M
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
79 |
477 |
7.7e-112 |
PFAM |
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089049
|
SMART Domains |
Protein: ENSMUSP00000086450 Gene: ENSMUSG00000045211
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
Pfam:NUDIX
|
44 |
165 |
2.5e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228554
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8 |
A |
G |
17: 32,535,429 (GRCm39) |
F195S |
possibly damaging |
Het |
Aldh3a1 |
G |
A |
11: 61,106,362 (GRCm39) |
A246T |
probably damaging |
Het |
Caskin1 |
T |
A |
17: 24,718,539 (GRCm39) |
N331K |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,491,562 (GRCm39) |
S644N |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
Cyp4a12a |
A |
C |
4: 115,184,471 (GRCm39) |
K282T |
probably benign |
Het |
Dtnb |
C |
T |
12: 3,641,962 (GRCm39) |
R42* |
probably null |
Het |
Dyrk3 |
A |
G |
1: 131,057,219 (GRCm39) |
I318T |
probably damaging |
Het |
Gm11110 |
T |
C |
17: 57,410,435 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
Igfn1 |
A |
G |
1: 135,926,379 (GRCm39) |
S24P |
probably benign |
Het |
Inpp4b |
A |
G |
8: 82,678,890 (GRCm39) |
M307V |
possibly damaging |
Het |
Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
Kmt2a |
A |
C |
9: 44,731,394 (GRCm39) |
|
probably benign |
Het |
Limk1 |
A |
G |
5: 134,701,523 (GRCm39) |
|
probably null |
Het |
Lrrc14 |
T |
A |
15: 76,597,318 (GRCm39) |
|
probably null |
Het |
Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Mug2 |
T |
C |
6: 122,024,465 (GRCm39) |
|
probably benign |
Het |
Myo15a |
G |
A |
11: 60,401,126 (GRCm39) |
|
probably null |
Het |
Nup98 |
T |
C |
7: 101,834,084 (GRCm39) |
T293A |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,957,504 (GRCm39) |
Y278F |
probably damaging |
Het |
Or12d12 |
T |
A |
17: 37,610,761 (GRCm39) |
D184V |
probably benign |
Het |
Phactr4 |
A |
C |
4: 132,097,058 (GRCm39) |
D496E |
probably benign |
Het |
Pramel6 |
T |
A |
2: 87,341,140 (GRCm39) |
|
probably null |
Het |
Ptprq |
C |
T |
10: 107,418,337 (GRCm39) |
A1680T |
probably damaging |
Het |
Retnlb |
T |
A |
16: 48,639,008 (GRCm39) |
C70S |
probably damaging |
Het |
Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,650,327 (GRCm39) |
N865D |
probably damaging |
Het |
Sp9 |
G |
A |
2: 73,104,315 (GRCm39) |
A290T |
probably benign |
Het |
Spg11 |
C |
T |
2: 121,901,534 (GRCm39) |
V1469I |
probably benign |
Het |
Unc13c |
G |
T |
9: 73,837,935 (GRCm39) |
A972D |
possibly damaging |
Het |
Vwa3a |
T |
C |
7: 120,398,334 (GRCm39) |
L945P |
probably damaging |
Het |
|
Other mutations in Fhip2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01366:Fhip2b
|
APN |
14 |
70,822,813 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01862:Fhip2b
|
APN |
14 |
70,825,130 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02306:Fhip2b
|
APN |
14 |
70,826,437 (GRCm39) |
missense |
probably benign |
|
IGL02534:Fhip2b
|
APN |
14 |
70,823,630 (GRCm39) |
missense |
probably benign |
|
IGL02534:Fhip2b
|
APN |
14 |
70,823,128 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03071:Fhip2b
|
APN |
14 |
70,823,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03162:Fhip2b
|
APN |
14 |
70,824,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03166:Fhip2b
|
APN |
14 |
70,827,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03134:Fhip2b
|
UTSW |
14 |
70,826,149 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0043:Fhip2b
|
UTSW |
14 |
70,826,101 (GRCm39) |
missense |
probably benign |
0.45 |
R0628:Fhip2b
|
UTSW |
14 |
70,825,161 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0691:Fhip2b
|
UTSW |
14 |
70,825,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R1680:Fhip2b
|
UTSW |
14 |
70,824,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Fhip2b
|
UTSW |
14 |
70,831,438 (GRCm39) |
missense |
probably damaging |
0.98 |
R2059:Fhip2b
|
UTSW |
14 |
70,822,489 (GRCm39) |
missense |
possibly damaging |
0.54 |
R2362:Fhip2b
|
UTSW |
14 |
70,823,805 (GRCm39) |
missense |
probably benign |
0.18 |
R4233:Fhip2b
|
UTSW |
14 |
70,824,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R4770:Fhip2b
|
UTSW |
14 |
70,825,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R5903:Fhip2b
|
UTSW |
14 |
70,829,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R6217:Fhip2b
|
UTSW |
14 |
70,829,198 (GRCm39) |
splice site |
probably null |
|
R6665:Fhip2b
|
UTSW |
14 |
70,823,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R7424:Fhip2b
|
UTSW |
14 |
70,831,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R9176:Fhip2b
|
UTSW |
14 |
70,826,540 (GRCm39) |
missense |
probably benign |
0.40 |
R9393:Fhip2b
|
UTSW |
14 |
70,831,463 (GRCm39) |
nonsense |
probably null |
|
R9486:Fhip2b
|
UTSW |
14 |
70,826,479 (GRCm39) |
missense |
probably benign |
0.00 |
R9529:Fhip2b
|
UTSW |
14 |
70,822,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R9610:Fhip2b
|
UTSW |
14 |
70,824,258 (GRCm39) |
missense |
probably benign |
0.44 |
R9611:Fhip2b
|
UTSW |
14 |
70,824,258 (GRCm39) |
missense |
probably benign |
0.44 |
R9646:Fhip2b
|
UTSW |
14 |
70,827,808 (GRCm39) |
missense |
probably damaging |
0.99 |
R9699:Fhip2b
|
UTSW |
14 |
70,825,179 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9760:Fhip2b
|
UTSW |
14 |
70,827,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Fhip2b
|
UTSW |
14 |
70,823,644 (GRCm39) |
missense |
not run |
|
Z1177:Fhip2b
|
UTSW |
14 |
70,823,644 (GRCm39) |
missense |
not run |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTGATGTCTTGGCTTCC -3'
(R):5'- ATACCCTGTAAGTGAAGCAGAG -3'
Sequencing Primer
(F):5'- TTCCTCAGGGACCAGGCAAAG -3'
(R):5'- AGGACTCAGTGCACGCATG -3'
|
Posted On |
2015-02-18 |