Incidental Mutation 'IGL01972:Fhip1b'
ID |
181666 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fhip1b
|
Ensembl Gene |
ENSMUSG00000044465 |
Gene Name |
FHF complex subunit HOOK interacting protein 1B |
Synonyms |
Fam160a2, 4632419K20Rik, 6530415H11Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01972
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
105020418-105049261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105039352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 5
(N5S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048079]
[ENSMUST00000074686]
[ENSMUST00000118726]
[ENSMUST00000122327]
[ENSMUST00000137158]
[ENSMUST00000179474]
|
AlphaFold |
Q3U2I3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048079
AA Change: N5S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000045084 Gene: ENSMUSG00000044465 AA Change: N5S
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
2.8e-99 |
PFAM |
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
low complexity region
|
891 |
906 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074686
AA Change: N5S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000074252 Gene: ENSMUSG00000044465 AA Change: N5S
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
4.4e-100 |
PFAM |
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
low complexity region
|
825 |
840 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118726
AA Change: N5S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000112605 Gene: ENSMUSG00000044465 AA Change: N5S
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
1.8e-99 |
PFAM |
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
low complexity region
|
707 |
722 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122327
AA Change: N5S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000112711 Gene: ENSMUSG00000044465 AA Change: N5S
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
5.6e-98 |
PFAM |
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
low complexity region
|
891 |
906 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136298
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137158
AA Change: N5S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119184 Gene: ENSMUSG00000044465 AA Change: N5S
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
259 |
7.2e-42 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179474
AA Change: N5S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000137163 Gene: ENSMUSG00000044465 AA Change: N5S
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
4.2e-98 |
PFAM |
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
low complexity region
|
711 |
724 |
N/A |
INTRINSIC |
low complexity region
|
732 |
744 |
N/A |
INTRINSIC |
low complexity region
|
905 |
920 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211013
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210341
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahr |
T |
G |
12: 35,554,448 (GRCm39) |
D557A |
possibly damaging |
Het |
Akap11 |
T |
C |
14: 78,745,297 (GRCm39) |
Q1697R |
probably damaging |
Het |
Alpi |
T |
A |
1: 87,027,431 (GRCm39) |
T312S |
probably damaging |
Het |
Cacna1b |
C |
A |
2: 24,525,107 (GRCm39) |
|
probably null |
Het |
Car5a |
C |
T |
8: 122,653,821 (GRCm39) |
|
probably null |
Het |
Cubn |
T |
C |
2: 13,450,883 (GRCm39) |
T841A |
possibly damaging |
Het |
Eml6 |
A |
T |
11: 29,788,451 (GRCm39) |
F545I |
possibly damaging |
Het |
Fam114a2 |
G |
A |
11: 57,400,220 (GRCm39) |
T156I |
probably damaging |
Het |
Fbxl21 |
C |
T |
13: 56,684,672 (GRCm39) |
R259* |
probably null |
Het |
Gm5117 |
C |
T |
8: 32,227,787 (GRCm39) |
|
noncoding transcript |
Het |
Hc |
T |
C |
2: 34,873,784 (GRCm39) |
Y1650C |
probably damaging |
Het |
Med12l |
C |
A |
3: 59,169,314 (GRCm39) |
T1568K |
probably damaging |
Het |
Mtrex |
T |
C |
13: 113,017,595 (GRCm39) |
K853E |
probably damaging |
Het |
Or2ag2b |
A |
G |
7: 106,417,739 (GRCm39) |
I150V |
probably benign |
Het |
Or5g27 |
T |
C |
2: 85,410,117 (GRCm39) |
F178S |
probably damaging |
Het |
Or6n1 |
G |
T |
1: 173,916,987 (GRCm39) |
C127F |
probably damaging |
Het |
Orm3 |
A |
G |
4: 63,277,563 (GRCm39) |
S184G |
probably benign |
Het |
Padi1 |
A |
G |
4: 140,546,170 (GRCm39) |
|
probably benign |
Het |
Rnf133 |
T |
C |
6: 23,648,988 (GRCm39) |
T357A |
probably benign |
Het |
Tmem17 |
A |
G |
11: 22,467,265 (GRCm39) |
S60G |
probably benign |
Het |
Ubqlnl |
G |
T |
7: 103,798,904 (GRCm39) |
Q198K |
probably benign |
Het |
Vmn1r69 |
A |
T |
7: 10,314,586 (GRCm39) |
Y48* |
probably null |
Het |
Zfp658 |
G |
A |
7: 43,222,134 (GRCm39) |
W136* |
probably null |
Het |
|
Other mutations in Fhip1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00708:Fhip1b
|
APN |
7 |
105,037,467 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02054:Fhip1b
|
APN |
7 |
105,033,630 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03037:Fhip1b
|
APN |
7 |
105,028,293 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03278:Fhip1b
|
APN |
7 |
105,034,331 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03340:Fhip1b
|
APN |
7 |
105,038,517 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03374:Fhip1b
|
APN |
7 |
105,033,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R0426:Fhip1b
|
UTSW |
7 |
105,038,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R0482:Fhip1b
|
UTSW |
7 |
105,033,419 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0586:Fhip1b
|
UTSW |
7 |
105,038,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R0686:Fhip1b
|
UTSW |
7 |
105,037,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R1617:Fhip1b
|
UTSW |
7 |
105,034,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R2025:Fhip1b
|
UTSW |
7 |
105,038,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R2042:Fhip1b
|
UTSW |
7 |
105,033,328 (GRCm39) |
nonsense |
probably null |
|
R2049:Fhip1b
|
UTSW |
7 |
105,039,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Fhip1b
|
UTSW |
7 |
105,037,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R3778:Fhip1b
|
UTSW |
7 |
105,037,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R4094:Fhip1b
|
UTSW |
7 |
105,037,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R4348:Fhip1b
|
UTSW |
7 |
105,034,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R4482:Fhip1b
|
UTSW |
7 |
105,038,881 (GRCm39) |
missense |
probably benign |
0.06 |
R4609:Fhip1b
|
UTSW |
7 |
105,037,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R4742:Fhip1b
|
UTSW |
7 |
105,033,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R4977:Fhip1b
|
UTSW |
7 |
105,038,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R5642:Fhip1b
|
UTSW |
7 |
105,039,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R6404:Fhip1b
|
UTSW |
7 |
105,034,198 (GRCm39) |
nonsense |
probably null |
|
R6906:Fhip1b
|
UTSW |
7 |
105,037,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R7053:Fhip1b
|
UTSW |
7 |
105,033,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R7265:Fhip1b
|
UTSW |
7 |
105,033,432 (GRCm39) |
missense |
probably benign |
0.00 |
R7808:Fhip1b
|
UTSW |
7 |
105,033,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R8246:Fhip1b
|
UTSW |
7 |
105,038,867 (GRCm39) |
missense |
probably damaging |
0.98 |
R8253:Fhip1b
|
UTSW |
7 |
105,028,294 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8379:Fhip1b
|
UTSW |
7 |
105,034,342 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8497:Fhip1b
|
UTSW |
7 |
105,030,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R8919:Fhip1b
|
UTSW |
7 |
105,037,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9093:Fhip1b
|
UTSW |
7 |
105,034,599 (GRCm39) |
missense |
probably damaging |
0.98 |
R9176:Fhip1b
|
UTSW |
7 |
105,030,585 (GRCm39) |
missense |
probably benign |
0.33 |
R9215:Fhip1b
|
UTSW |
7 |
105,034,296 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9244:Fhip1b
|
UTSW |
7 |
105,038,870 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9447:Fhip1b
|
UTSW |
7 |
105,034,155 (GRCm39) |
missense |
probably benign |
|
R9554:Fhip1b
|
UTSW |
7 |
105,038,915 (GRCm39) |
missense |
probably damaging |
0.98 |
X0022:Fhip1b
|
UTSW |
7 |
105,038,916 (GRCm39) |
nonsense |
probably null |
|
Z1190:Fhip1b
|
UTSW |
7 |
105,037,528 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2014-05-07 |