Incidental Mutation 'IGL02534:Fhip2b'
| ID |
297425 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fhip2b
|
| Ensembl Gene |
ENSMUSG00000022095 |
| Gene Name |
FHF complex subunit HOOK interacting protein 2B |
| Synonyms |
G430067P06Rik, Fam160b2, Rai16 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL02534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70820736-70837275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70823128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 642
(H642Q)
|
| 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: H642Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022690
Gene: ENSMUSG00000022095
AA Change: H642Q
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
C |
T |
13: 95,506,030 (GRCm39) |
E186K |
possibly damaging |
Het |
| Ajm1 |
G |
T |
2: 25,467,043 (GRCm39) |
S956* |
probably null |
Het |
| Anks1b |
A |
G |
10: 90,730,979 (GRCm39) |
I932V |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,609,526 (GRCm39) |
Y1361H |
probably damaging |
Het |
| Bcl9 |
G |
T |
3: 97,122,545 (GRCm39) |
L85M |
probably damaging |
Het |
| Bcl9l |
T |
G |
9: 44,417,036 (GRCm39) |
S291R |
probably benign |
Het |
| Cpa2 |
T |
A |
6: 30,550,767 (GRCm39) |
D201E |
probably benign |
Het |
| Efna5 |
A |
T |
17: 62,920,384 (GRCm39) |
C164* |
probably null |
Het |
| Gm6316 |
A |
G |
12: 69,967,763 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,229,500 (GRCm39) |
S57P |
probably damaging |
Het |
| Inf2 |
C |
A |
12: 112,576,930 (GRCm39) |
A968E |
unknown |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mcm5 |
T |
A |
8: 75,840,861 (GRCm39) |
V222E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,398,456 (GRCm39) |
Y287C |
unknown |
Het |
| Or12e9 |
T |
G |
2: 87,202,598 (GRCm39) |
S241A |
probably benign |
Het |
| Or13a24 |
A |
T |
7: 140,154,554 (GRCm39) |
M163L |
probably benign |
Het |
| Or14c39 |
G |
A |
7: 86,343,939 (GRCm39) |
V92M |
probably benign |
Het |
| Or8u10 |
A |
G |
2: 85,915,713 (GRCm39) |
M136T |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,869,410 (GRCm39) |
D70G |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Ppp1r17 |
C |
A |
6: 56,003,445 (GRCm39) |
S86* |
probably null |
Het |
| Rasd1 |
A |
G |
11: 59,855,615 (GRCm39) |
M6T |
possibly damaging |
Het |
| Rsph14 |
C |
A |
10: 74,793,466 (GRCm39) |
V345F |
probably damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,299,207 (GRCm39) |
Q121L |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,205,536 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
T |
C |
11: 105,725,994 (GRCm39) |
L386P |
probably damaging |
Het |
| Tmem9b |
A |
T |
7: 109,336,164 (GRCm39) |
L160Q |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,906 (GRCm39) |
T488A |
possibly damaging |
Het |
| Tubb1 |
A |
G |
2: 174,297,462 (GRCm39) |
I24V |
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,788,302 (GRCm39) |
|
probably null |
Het |
| Zfp263 |
T |
A |
16: 3,564,279 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R3423:Fhip2b
|
UTSW |
14 |
70,824,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation