Incidental Mutation 'R4482:Fhip1b'
| ID |
331460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1b
|
| Ensembl Gene |
ENSMUSG00000044465 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1B |
| Synonyms |
Fam160a2, 4632419K20Rik, 6530415H11Rik |
| MMRRC Submission |
041738-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4482 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
105020418-105049261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105038881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 119
(F119L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112711
(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: F119L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: F119L
| 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: F119L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: F119L
| 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: F119L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
AA Change: F119L
| 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: F119L
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: F119L
| 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: F119L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465
AA Change: F119L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
259 |
7.2e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179474
AA Change: F119L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: F119L
| 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: ENSMUST00000210341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211013
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
A |
G |
11: 3,845,008 (GRCm39) |
V27A |
possibly damaging |
Het |
| Actn3 |
A |
T |
19: 4,913,436 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
T |
C |
15: 94,243,801 (GRCm39) |
Y642C |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,228 (GRCm39) |
D1187G |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,275,072 (GRCm39) |
|
probably benign |
Het |
| Bsn |
C |
A |
9: 107,991,863 (GRCm39) |
K1296N |
probably damaging |
Het |
| Cct5 |
T |
C |
15: 31,597,715 (GRCm39) |
D58G |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,389,795 (GRCm39) |
F467L |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,672,536 (GRCm39) |
Y904H |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,205,530 (GRCm39) |
|
probably null |
Het |
| Git1 |
T |
A |
11: 77,391,333 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Itga6 |
T |
A |
2: 71,686,259 (GRCm39) |
I1059N |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,051 (GRCm39) |
Y475F |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,970,710 (GRCm39) |
I199T |
probably benign |
Het |
| Mtmr7 |
T |
C |
8: 41,007,425 (GRCm39) |
M503V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,577,075 (GRCm39) |
T2192A |
unknown |
Het |
| Nexn |
T |
C |
3: 151,948,390 (GRCm39) |
E391G |
probably damaging |
Het |
| Or5h22 |
G |
T |
16: 58,895,286 (GRCm39) |
H52Q |
probably benign |
Het |
| Parg |
A |
G |
14: 31,984,731 (GRCm39) |
I254V |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pomt2 |
G |
A |
12: 87,178,604 (GRCm39) |
P290S |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,429 (GRCm39) |
Y42N |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,708,480 (GRCm39) |
F871L |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,980,935 (GRCm39) |
|
probably null |
Het |
| Trim21 |
G |
A |
7: 102,213,140 (GRCm39) |
Q53* |
probably null |
Het |
| Triobp |
T |
C |
15: 78,850,763 (GRCm39) |
S306P |
possibly damaging |
Het |
| Vasn |
A |
T |
16: 4,466,190 (GRCm39) |
T46S |
possibly damaging |
Het |
| Wmp |
T |
A |
X: 106,990,237 (GRCm39) |
L225F |
possibly damaging |
Het |
| Zfp236 |
A |
T |
18: 82,662,346 (GRCm39) |
F529Y |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGCACCAGGCCTTCATC -3'
(R):5'- CTCAGGTGGTACGAATCCTG -3'
Sequencing Primer
(F):5'- AGGCCTTCATCCAGTGCTG -3'
(R):5'- CTACTGGAGGTGCAGATGATCTCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation