Incidental Mutation 'R1617:Fhip1b'
| ID |
174360 |
| 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 |
039654-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1617 (G1)
|
| Quality Score |
178 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
105020418-105049261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105034269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 454
(L454P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048079]
[ENSMUST00000074686]
[ENSMUST00000118726]
[ENSMUST00000122327]
[ENSMUST00000137158]
[ENSMUST00000179474]
[ENSMUST00000210448]
[ENSMUST00000211549]
|
| AlphaFold |
Q3U2I3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048079
AA Change: L454P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: L454P
| 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: L454P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: L454P
| 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: L454P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
AA Change: L454P
| 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: L454P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: L454P
| 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 |
noncoding transcript
Transcript: ENSMUST00000142559
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179474
AA Change: L454P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: L454P
| 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: ENSMUST00000211013
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211549
|
| Meta Mutation Damage Score |
0.8458 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| Validation Efficiency |
98% (83/85) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,603,473 (GRCm39) |
I91K |
probably damaging |
Het |
| AAdacl4fm3 |
T |
G |
4: 144,441,961 (GRCm39) |
T97P |
probably damaging |
Het |
| Adamts16 |
T |
A |
13: 70,946,154 (GRCm39) |
M254L |
probably benign |
Het |
| Adgre5 |
T |
C |
8: 84,456,806 (GRCm39) |
I192V |
possibly damaging |
Het |
| Akr1c21 |
G |
A |
13: 4,626,351 (GRCm39) |
|
probably null |
Het |
| Amz2 |
A |
G |
11: 109,324,850 (GRCm39) |
T245A |
probably benign |
Het |
| Aqp7 |
A |
C |
4: 41,036,109 (GRCm39) |
M43R |
probably null |
Het |
| Arid3c |
G |
A |
4: 41,725,103 (GRCm39) |
P315S |
probably damaging |
Het |
| Birc2 |
A |
T |
9: 7,826,952 (GRCm39) |
Y345N |
possibly damaging |
Het |
| Blnk |
T |
C |
19: 40,950,807 (GRCm39) |
T115A |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,842,393 (GRCm39) |
S423P |
unknown |
Het |
| Corin |
A |
T |
5: 72,661,295 (GRCm39) |
F66Y |
possibly damaging |
Het |
| Cpd |
A |
T |
11: 76,737,495 (GRCm39) |
W100R |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,486,570 (GRCm39) |
Y296* |
probably null |
Het |
| Cyp2d34 |
T |
C |
15: 82,505,046 (GRCm39) |
T5A |
probably benign |
Het |
| Dhrs7c |
G |
T |
11: 67,705,903 (GRCm39) |
V219L |
possibly damaging |
Het |
| Dnah3 |
T |
C |
7: 119,689,169 (GRCm39) |
M82V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,786,747 (GRCm39) |
S3629P |
probably damaging |
Het |
| Fbrs |
T |
C |
7: 127,086,883 (GRCm39) |
L33P |
probably damaging |
Het |
| Galnt11 |
T |
A |
5: 25,463,891 (GRCm39) |
S388T |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,235,426 (GRCm39) |
|
probably benign |
Het |
| Gm9894 |
A |
G |
13: 67,920,845 (GRCm39) |
|
noncoding transcript |
Het |
| Grik3 |
A |
G |
4: 125,584,985 (GRCm39) |
M618V |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,620,778 (GRCm39) |
D1144G |
probably damaging |
Het |
| Hnrnpa2b1 |
T |
C |
6: 51,443,378 (GRCm39) |
K161R |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,580,925 (GRCm39) |
I523V |
probably benign |
Het |
| Lmln |
C |
T |
16: 32,937,500 (GRCm39) |
P622S |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,110,680 (GRCm39) |
T467A |
probably damaging |
Het |
| Map1s |
T |
A |
8: 71,366,095 (GRCm39) |
N333K |
probably damaging |
Het |
| Mgat4d |
C |
A |
8: 84,092,340 (GRCm39) |
A242D |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,417,261 (GRCm39) |
Y3402* |
probably null |
Het |
| Myo3b |
G |
T |
2: 70,111,562 (GRCm39) |
A922S |
probably benign |
Het |
| Nphs1 |
T |
C |
7: 30,181,956 (GRCm39) |
V1183A |
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,509,843 (GRCm39) |
C31S |
probably benign |
Het |
| Or4c58 |
T |
C |
2: 89,674,598 (GRCm39) |
T240A |
probably benign |
Het |
| Or8k25 |
A |
T |
2: 86,244,035 (GRCm39) |
Y120* |
probably null |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,455 (GRCm39) |
Y278* |
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,268,274 (GRCm39) |
E3368V |
possibly damaging |
Het |
| Pla2g6 |
A |
G |
15: 79,173,341 (GRCm39) |
M676T |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,179,361 (GRCm39) |
N590Y |
probably damaging |
Het |
| Prr12 |
G |
A |
7: 44,699,018 (GRCm39) |
|
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,901,666 (GRCm39) |
|
probably null |
Het |
| Ptpn9 |
T |
G |
9: 56,934,692 (GRCm39) |
I152S |
possibly damaging |
Het |
| Ric8b |
T |
A |
10: 84,783,475 (GRCm39) |
F111Y |
probably damaging |
Het |
| Slc44a3 |
G |
A |
3: 121,254,914 (GRCm39) |
A568V |
probably benign |
Het |
| Smarcd3 |
T |
G |
5: 24,800,192 (GRCm39) |
R213S |
probably damaging |
Het |
| Snx13 |
T |
C |
12: 35,136,895 (GRCm39) |
Y119H |
probably damaging |
Het |
| Socs2 |
C |
A |
10: 95,248,943 (GRCm39) |
E57* |
probably null |
Het |
| Spred1 |
C |
T |
2: 117,005,828 (GRCm39) |
P197S |
probably benign |
Het |
| Srek1 |
G |
T |
13: 103,880,112 (GRCm39) |
P482Q |
unknown |
Het |
| Tapbp |
A |
G |
17: 34,139,405 (GRCm39) |
T134A |
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,171,007 (GRCm39) |
I998V |
possibly damaging |
Het |
| Tbcel |
G |
T |
9: 42,372,589 (GRCm39) |
|
probably benign |
Het |
| Tec |
A |
G |
5: 72,939,448 (GRCm39) |
F189S |
probably damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,647,422 (GRCm39) |
Y39N |
probably damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,256,902 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,943,899 (GRCm39) |
I1070T |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,771,709 (GRCm39) |
|
probably null |
Het |
| Ttc21b |
G |
T |
2: 66,056,379 (GRCm39) |
T669K |
probably benign |
Het |
| Ttll4 |
G |
A |
1: 74,718,560 (GRCm39) |
R137H |
probably benign |
Het |
| Ubqln3 |
G |
T |
7: 103,792,067 (GRCm39) |
L8I |
possibly damaging |
Het |
| Ung |
C |
A |
5: 114,269,415 (GRCm39) |
N42K |
probably benign |
Het |
| Upp1 |
T |
C |
11: 9,084,865 (GRCm39) |
S195P |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,557,340 (GRCm39) |
E1762G |
possibly damaging |
Het |
| Utp11 |
T |
C |
4: 124,579,904 (GRCm39) |
K35E |
probably damaging |
Het |
| Vav3 |
A |
T |
3: 109,418,294 (GRCm39) |
K305I |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,498 (GRCm39) |
I140V |
possibly damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,673,503 (GRCm39) |
E187G |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,226,827 (GRCm39) |
T295A |
probably benign |
Het |
| Zfp268 |
A |
T |
4: 145,350,877 (GRCm39) |
|
probably benign |
Het |
| Zfp46 |
T |
C |
4: 136,017,823 (GRCm39) |
L219P |
probably damaging |
Het |
| Zfp493 |
G |
A |
13: 67,931,999 (GRCm39) |
V33M |
probably damaging |
Het |
| Zfp92 |
T |
C |
X: 72,463,466 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCTGTAGGCTCACCCAGAACC -3'
(R):5'- ACCTGGGCACATGGGCTATTCAAG -3'
Sequencing Primer
(F):5'- CCAGGCCATACCCGTGATG -3'
(R):5'- CTCAGAGGAACCTGGTTTAGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation