Incidental Mutation 'IGL03037:Fhip1b'
| ID |
408733 |
| 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 # |
IGL03037
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
105020418-105049261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105028293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 885
(H885Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048079]
[ENSMUST00000074686]
[ENSMUST00000106805]
[ENSMUST00000118726]
[ENSMUST00000122327]
[ENSMUST00000137158]
[ENSMUST00000179474]
[ENSMUST00000210448]
[ENSMUST00000211549]
[ENSMUST00000209233]
|
| AlphaFold |
Q3U2I3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048079
AA Change: H885Q
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: H885Q
| 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 benign
Transcript: ENSMUST00000074686
AA Change: H805Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: H805Q
| 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: ENSMUST00000106805
|
| SMART Domains |
Protein: ENSMUSP00000102417
Gene: ENSMUSG00000078611
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4663
|
1 |
332 |
1.8e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118726
AA Change: H687Q
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
AA Change: H687Q
| 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: H871Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: H871Q
| 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 |
probably benign
Transcript: ENSMUST00000137158
|
| SMART Domains |
Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
259 |
7.2e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179474
AA Change: H871Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: H871Q
| 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 |
probably benign
Transcript: ENSMUST00000210448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209233
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
C |
9: 107,807,294 (GRCm39) |
L539P |
probably damaging |
Het |
| Adam23 |
A |
T |
1: 63,610,176 (GRCm39) |
Q726L |
possibly damaging |
Het |
| Ago1 |
T |
C |
4: 126,355,587 (GRCm39) |
E74G |
probably benign |
Het |
| Atp6v1d |
C |
A |
12: 78,904,122 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
C |
A |
3: 37,023,356 (GRCm39) |
S2227R |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,023,357 (GRCm39) |
S2229P |
probably damaging |
Het |
| Cadm4 |
T |
A |
7: 24,200,220 (GRCm39) |
L243Q |
probably damaging |
Het |
| Camsap2 |
C |
A |
1: 136,202,595 (GRCm39) |
L1274F |
probably damaging |
Het |
| Car10 |
A |
G |
11: 92,991,044 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
A |
T |
17: 56,948,583 (GRCm39) |
D186V |
possibly damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,361,230 (GRCm39) |
Y285C |
probably damaging |
Het |
| Cenpi |
T |
A |
X: 133,250,017 (GRCm39) |
C599S |
possibly damaging |
Het |
| Cln8 |
A |
T |
8: 14,944,679 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,962,417 (GRCm39) |
|
probably null |
Het |
| Cripto |
C |
A |
9: 110,772,288 (GRCm39) |
W36L |
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,672,930 (GRCm39) |
N532D |
possibly damaging |
Het |
| Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,063,545 (GRCm39) |
E249G |
probably benign |
Het |
| Espnl |
T |
C |
1: 91,269,643 (GRCm39) |
V393A |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,696,116 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
C |
A |
11: 53,059,050 (GRCm39) |
A503D |
possibly damaging |
Het |
| Gda |
T |
A |
19: 21,411,673 (GRCm39) |
I42L |
possibly damaging |
Het |
| Gprc5d |
C |
A |
6: 135,093,319 (GRCm39) |
C196F |
probably damaging |
Het |
| Hnrnpa0 |
A |
G |
13: 58,275,767 (GRCm39) |
F121L |
probably damaging |
Het |
| Hsd3b7 |
C |
T |
7: 127,400,322 (GRCm39) |
H24Y |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,311,368 (GRCm39) |
S1188P |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mcemp1 |
C |
A |
8: 3,717,055 (GRCm39) |
Y65* |
probably null |
Het |
| Mmp16 |
C |
T |
4: 17,996,222 (GRCm39) |
P104S |
probably damaging |
Het |
| Mpst |
C |
A |
15: 78,294,798 (GRCm39) |
R177S |
probably benign |
Het |
| Nek1 |
A |
T |
8: 61,487,086 (GRCm39) |
T279S |
probably benign |
Het |
| Or1q1 |
C |
T |
2: 36,887,560 (GRCm39) |
T246I |
probably benign |
Het |
| Or1x2 |
A |
T |
11: 50,918,117 (GRCm39) |
Y96F |
probably damaging |
Het |
| Or4c11b |
A |
G |
2: 88,625,299 (GRCm39) |
Y191C |
probably damaging |
Het |
| Or7g18 |
T |
A |
9: 18,786,668 (GRCm39) |
I12N |
probably damaging |
Het |
| Pard3 |
A |
T |
8: 128,032,975 (GRCm39) |
T190S |
probably benign |
Het |
| Pik3r4 |
A |
G |
9: 105,528,012 (GRCm39) |
D455G |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,616,308 (GRCm39) |
I756V |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,592,923 (GRCm39) |
L1730P |
probably benign |
Het |
| Pnpla3 |
T |
C |
15: 84,056,960 (GRCm39) |
I155T |
probably damaging |
Het |
| Prmt8 |
T |
C |
6: 127,680,940 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Rbfox1 |
T |
A |
16: 7,110,147 (GRCm39) |
|
probably benign |
Het |
| Rps6ka2 |
G |
A |
17: 7,521,849 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
A |
G |
17: 3,240,496 (GRCm39) |
K623E |
probably damaging |
Het |
| Slc26a4 |
A |
T |
12: 31,581,686 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
T |
A |
11: 82,894,078 (GRCm39) |
I854F |
probably damaging |
Het |
| Smarca4 |
T |
C |
9: 21,544,231 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,727,758 (GRCm39) |
D775G |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,979,486 (GRCm39) |
|
probably null |
Het |
| Spata31d1d |
T |
A |
13: 59,873,947 (GRCm39) |
E1196V |
possibly damaging |
Het |
| Sqle |
T |
A |
15: 59,193,246 (GRCm39) |
Y208N |
probably damaging |
Het |
| Tcl1b5 |
C |
T |
12: 105,145,273 (GRCm39) |
T79M |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,751,913 (GRCm39) |
F959L |
possibly damaging |
Het |
| Tnfrsf19 |
T |
A |
14: 61,261,721 (GRCm39) |
K26I |
possibly damaging |
Het |
| Trappc10 |
A |
T |
10: 78,034,869 (GRCm39) |
|
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,332,419 (GRCm39) |
W204R |
possibly damaging |
Het |
| Trpm3 |
A |
G |
19: 22,866,776 (GRCm39) |
T536A |
possibly damaging |
Het |
| Ttbk1 |
G |
A |
17: 46,757,256 (GRCm39) |
T1126I |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,748,147 (GRCm39) |
D37G |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,896,971 (GRCm39) |
|
probably benign |
Het |
| Ubqln2 |
C |
T |
X: 152,282,692 (GRCm39) |
Q415* |
probably null |
Het |
| Ugp2 |
T |
A |
11: 21,282,540 (GRCm39) |
K151* |
probably null |
Het |
| Wasf1 |
A |
G |
10: 40,806,654 (GRCm39) |
K99R |
probably benign |
Het |
| Wnt4 |
C |
T |
4: 137,016,472 (GRCm39) |
T42M |
possibly damaging |
Het |
| Zfp54 |
T |
A |
17: 21,650,477 (GRCm39) |
D17E |
probably damaging |
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 |
|
IGL01972:Fhip1b
|
APN |
7 |
105,039,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02054:Fhip1b
|
APN |
7 |
105,033,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation