Incidental Mutation 'R4094:Fhip1b'
| ID |
317801 |
| 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 |
041628-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4094 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
105020418-105049261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105037425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 386
(D386G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048079]
[ENSMUST00000074686]
[ENSMUST00000118726]
[ENSMUST00000122327]
[ENSMUST00000137158]
[ENSMUST00000179474]
[ENSMUST00000211549]
[ENSMUST00000210448]
|
| AlphaFold |
Q3U2I3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048079
AA Change: D386G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: D386G
| 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: D386G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: D386G
| 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 damaging
Transcript: ENSMUST00000118726
AA Change: D386G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
AA Change: D386G
| 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 damaging
Transcript: ENSMUST00000122327
AA Change: D386G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: D386G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
259 |
7.2e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179474
AA Change: D386G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: D386G
| 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: ENSMUST00000211549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211013
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,071,192 (GRCm39) |
C1500R |
probably damaging |
Het |
| Amz1 |
A |
T |
5: 140,737,921 (GRCm39) |
M93L |
probably damaging |
Het |
| Asb18 |
A |
T |
1: 89,942,147 (GRCm39) |
N51K |
probably damaging |
Het |
| Bcl11b |
G |
T |
12: 107,883,094 (GRCm39) |
P335Q |
probably damaging |
Het |
| Bsn |
A |
C |
9: 107,991,069 (GRCm39) |
V1561G |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,679,685 (GRCm39) |
N49K |
probably damaging |
Het |
| Cct8 |
T |
G |
16: 87,284,516 (GRCm39) |
I283L |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,031,037 (GRCm39) |
M121V |
probably benign |
Het |
| Cpne4 |
A |
G |
9: 104,563,734 (GRCm39) |
D37G |
probably damaging |
Het |
| Cym |
A |
G |
3: 107,121,582 (GRCm39) |
S237P |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,684,276 (GRCm39) |
I517N |
probably damaging |
Het |
| Ehf |
T |
C |
2: 103,121,095 (GRCm39) |
|
probably benign |
Het |
| Erp29 |
A |
G |
5: 121,590,345 (GRCm39) |
|
probably benign |
Het |
| Fgd6 |
C |
A |
10: 93,879,296 (GRCm39) |
P50Q |
probably damaging |
Het |
| Foxn3 |
G |
T |
12: 99,162,700 (GRCm39) |
D400E |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,615,843 (GRCm39) |
Y1031C |
probably damaging |
Het |
| Gna13 |
T |
A |
11: 109,287,242 (GRCm39) |
I355N |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,359,859 (GRCm39) |
L21* |
probably null |
Het |
| Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
| Itga2 |
T |
C |
13: 115,007,161 (GRCm39) |
D389G |
probably benign |
Het |
| Kdm1b |
T |
C |
13: 47,216,496 (GRCm39) |
C289R |
probably damaging |
Het |
| Kdm4c |
T |
A |
4: 74,229,915 (GRCm39) |
D237E |
probably benign |
Het |
| Lilrb4b |
A |
T |
10: 51,357,506 (GRCm39) |
E114V |
probably damaging |
Het |
| Loxl1 |
G |
A |
9: 58,219,739 (GRCm39) |
T144I |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,353,062 (GRCm39) |
R1784Q |
probably benign |
Het |
| Maml2 |
G |
A |
9: 13,531,449 (GRCm39) |
S221N |
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,892,696 (GRCm39) |
M853T |
possibly damaging |
Het |
| Micu3 |
T |
G |
8: 40,788,929 (GRCm39) |
S147A |
probably null |
Het |
| Nccrp1 |
T |
C |
7: 28,243,651 (GRCm39) |
Y261C |
possibly damaging |
Het |
| Or51aa5 |
T |
A |
7: 103,167,244 (GRCm39) |
I116F |
possibly damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,562 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or8k18 |
T |
C |
2: 86,085,674 (GRCm39) |
D121G |
probably damaging |
Het |
| Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,905,659 (GRCm39) |
T4963N |
unknown |
Het |
| Pdxk |
T |
C |
10: 78,300,644 (GRCm39) |
H13R |
probably damaging |
Het |
| Plcg1 |
A |
G |
2: 160,589,761 (GRCm39) |
E95G |
probably damaging |
Het |
| Ppargc1a |
T |
C |
5: 51,647,406 (GRCm39) |
N276S |
possibly damaging |
Het |
| Prr12 |
A |
G |
7: 44,697,371 (GRCm39) |
L848P |
unknown |
Het |
| Ptcd2 |
A |
G |
13: 99,468,957 (GRCm39) |
I202T |
probably damaging |
Het |
| Rab27a |
A |
C |
9: 72,982,826 (GRCm39) |
I44L |
probably damaging |
Het |
| Rbfox2 |
A |
T |
15: 77,016,925 (GRCm39) |
S82T |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,835,974 (GRCm39) |
F337L |
probably damaging |
Het |
| Samd8 |
T |
C |
14: 21,843,113 (GRCm39) |
I414T |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,283,704 (GRCm39) |
I478V |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
| Slc2a3 |
A |
T |
6: 122,712,527 (GRCm39) |
I239N |
probably benign |
Het |
| Spc25 |
G |
A |
2: 69,032,975 (GRCm39) |
S50L |
probably damaging |
Het |
| St8sia4 |
A |
T |
1: 95,555,411 (GRCm39) |
S206R |
possibly damaging |
Het |
| Syngr3 |
G |
A |
17: 24,908,817 (GRCm39) |
|
probably benign |
Het |
| Tigd4 |
A |
G |
3: 84,501,947 (GRCm39) |
D288G |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,983,795 (GRCm39) |
M251V |
probably benign |
Het |
| Ttll5 |
A |
T |
12: 86,003,376 (GRCm39) |
R214* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,730,860 (GRCm39) |
|
probably benign |
Het |
| Vmp1 |
A |
G |
11: 86,534,406 (GRCm39) |
I167T |
probably benign |
Het |
| Zfp64 |
T |
C |
2: 168,767,855 (GRCm39) |
T586A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,211,963 (GRCm39) |
C350S |
probably damaging |
Het |
| Zscan4f |
A |
T |
7: 11,135,185 (GRCm39) |
N197I |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTACATAGTGCCAGCTTG -3'
(R):5'- TGGTCGACCAGTGAAAGGAC -3'
Sequencing Primer
(F):5'- CTACATAGTGCCAGCTTGAAGTGAC -3'
(R):5'- TCGACCAGTGAAAGGACTTATATG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation