Incidental Mutation 'R4742:Fhip1b'
ID 358131
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 041966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4742 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 105020418-105049261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105033518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 566 (V566A)
Ref Sequence ENSEMBL: ENSMUSP00000074252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048079] [ENSMUST00000074686] [ENSMUST00000118726] [ENSMUST00000122327] [ENSMUST00000137158] [ENSMUST00000179474] [ENSMUST00000211549] [ENSMUST00000210448]
AlphaFold Q3U2I3
Predicted Effect probably benign
Transcript: ENSMUST00000048079
AA Change: V580A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: V580A

DomainStartEndE-ValueType
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: V566A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: V566A

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
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: V566A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: V566A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:RAI16-like 96 259 7.2e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179474
AA Change: V566A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: V566A

DomainStartEndE-ValueType
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: ENSMUST00000142559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210972
Predicted Effect probably benign
Transcript: ENSMUST00000211549
Predicted Effect probably benign
Transcript: ENSMUST00000210448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211013
Meta Mutation Damage Score 0.0854 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 94% (51/54)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030423J24Rik G T 13: 71,031,644 (GRCm39) R17L unknown Het
Acan T C 7: 78,750,517 (GRCm39) F1763L probably benign Het
Adgrb1 T A 15: 74,401,328 (GRCm39) L108* probably null Het
Anapc2 T A 2: 25,163,555 (GRCm39) probably null Het
Apbb1ip A G 2: 22,716,928 (GRCm39) K177E unknown Het
Azgp1 T A 5: 137,987,888 (GRCm39) Y223* probably null Het
Cfap44 T G 16: 44,269,615 (GRCm39) probably null Het
Chfr C T 5: 110,291,464 (GRCm39) T94I probably benign Het
Chrna10 T G 7: 101,762,344 (GRCm39) Q282P probably damaging Het
Col9a3 G T 2: 180,245,180 (GRCm39) G130W unknown Het
Dcaf1 A G 9: 106,735,754 (GRCm39) T901A probably benign Het
Dock2 T G 11: 34,244,170 (GRCm39) probably null Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Fdxacb1 A G 9: 50,679,968 (GRCm39) probably benign Het
Il31ra G T 13: 112,660,501 (GRCm39) S615* probably null Het
Itgam C T 7: 127,712,245 (GRCm39) S827F probably damaging Het
Mapkbp1 T A 2: 119,847,299 (GRCm39) V512E probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nab2 T C 10: 127,498,696 (GRCm39) T458A probably benign Het
Nadsyn1 A G 7: 143,352,367 (GRCm39) probably benign Het
Nek10 A G 14: 14,861,624 (GRCm38) D560G probably null Het
Or2ag13 A T 7: 106,472,635 (GRCm39) N272K probably damaging Het
Or2ak6 A G 11: 58,592,685 (GRCm39) R53G probably benign Het
Or8b46 T C 9: 38,450,952 (GRCm39) S254P probably damaging Het
Pou1f1 C A 16: 65,320,367 (GRCm39) P19T probably benign Het
Prdm9 A T 17: 15,773,783 (GRCm39) D329E probably damaging Het
Prkn T A 17: 11,456,591 (GRCm39) probably null Het
Ptprm A C 17: 67,051,746 (GRCm39) Y962* probably null Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rtkn2 A G 10: 67,839,144 (GRCm39) T154A possibly damaging Het
Slitrk3 T C 3: 72,955,898 (GRCm39) D958G probably benign Het
Spata31d1b C A 13: 59,864,426 (GRCm39) H525N probably damaging Het
Tacc2 A G 7: 130,227,697 (GRCm39) R1461G probably benign Het
Tas2r105 G A 6: 131,663,814 (GRCm39) H205Y probably damaging Het
Tenm4 A G 7: 96,446,691 (GRCm39) N809D probably damaging Het
Thoc2l A T 5: 104,666,723 (GRCm39) N415I probably benign Het
Tns1 A G 1: 74,163,449 (GRCm39) probably null Het
Top1 A G 2: 160,545,490 (GRCm39) probably null Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Txndc9 T C 1: 38,026,765 (GRCm39) D135G possibly damaging Het
Usp3 A G 9: 66,427,959 (GRCm39) Y339H probably damaging Het
Vmn1r5 A T 6: 56,963,236 (GRCm39) K304* probably null Het
Vmn2r92 A G 17: 18,387,119 (GRCm39) T153A probably benign Het
Xkr5 A T 8: 18,998,746 (GRCm39) *55K probably null Het
Other mutations in Fhip1b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CAGACGAACCTTCTTGGCTC -3'
(R):5'- GTTTCTTCGGCAACAGAGC -3'

Sequencing Primer
(F):5'- TGGTACCCCATTGAGCTGG -3'
(R):5'- CCTAGGTGGCTCTGAGTCC -3'
Posted On 2015-11-11