Incidental Mutation 'R4348:Fhip1b'
ID 328402
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 041103-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4348 (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 G at 105034556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 422 (V422A)
Ref Sequence ENSEMBL: ENSMUSP00000137163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048079] [ENSMUST00000074686] [ENSMUST00000118726] [ENSMUST00000122327] [ENSMUST00000137158] [ENSMUST00000179474] [ENSMUST00000211549] [ENSMUST00000210448]
AlphaFold Q3U2I3
Predicted Effect possibly damaging
Transcript: ENSMUST00000048079
AA Change: V422A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: V422A

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: V422A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: V422A

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 damaging
Transcript: ENSMUST00000118726
AA Change: V422A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
AA Change: V422A

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 possibly damaging
Transcript: ENSMUST00000122327
AA Change: V422A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: V422A

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 noncoding transcript
Transcript: ENSMUST00000142559
Predicted Effect probably damaging
Transcript: ENSMUST00000179474
AA Change: V422A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: V422A

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: ENSMUST00000211013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210972
Predicted Effect probably benign
Transcript: ENSMUST00000211549
Predicted Effect probably benign
Transcript: ENSMUST00000210448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210341
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Aass A G 6: 23,113,738 (GRCm39) F235L probably benign Het
Adamts1 T A 16: 85,599,234 (GRCm39) D122V probably benign Het
Adcy6 A T 15: 98,502,041 (GRCm39) V191E probably benign Het
Cngb3 G A 4: 19,396,688 (GRCm39) R347Q probably damaging Het
Cntnap4 T A 8: 113,480,554 (GRCm39) C334S probably damaging Het
D7Ertd443e ACCTAGGAGGTCCT ACCT 7: 133,950,682 (GRCm39) probably null Het
Dnah12 T A 14: 26,536,498 (GRCm39) M2138K possibly damaging Het
Ebf2 T C 14: 67,476,871 (GRCm39) I138T probably damaging Het
Ect2l A G 10: 18,012,736 (GRCm39) S784P probably damaging Het
Emilin2 T C 17: 71,587,726 (GRCm39) M129V probably benign Het
Enah A T 1: 181,749,985 (GRCm39) S266T possibly damaging Het
Garem2 G A 5: 30,310,366 (GRCm39) R26H possibly damaging Het
Gfy T C 7: 44,827,040 (GRCm39) E352G probably benign Het
Gpatch11 T C 17: 79,148,446 (GRCm39) L128P probably damaging Het
Inava C T 1: 136,153,946 (GRCm39) V180I probably damaging Het
Kcns3 T C 12: 11,141,382 (GRCm39) N439S possibly damaging Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Mbd1 G T 18: 74,407,487 (GRCm39) R199L probably damaging Het
Mbd5 T A 2: 49,146,339 (GRCm39) M183K probably benign Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Nckap1l A G 15: 103,395,246 (GRCm39) T909A probably damaging Het
Ntrk2 A G 13: 59,026,073 (GRCm39) K464E probably damaging Het
Orc1 C T 4: 108,450,649 (GRCm39) T127I probably damaging Het
Pcdh17 T C 14: 84,685,060 (GRCm39) I509T probably damaging Het
Pcsk7 G A 9: 45,830,646 (GRCm39) A475T probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Prdm16 A G 4: 154,561,124 (GRCm39) V136A probably benign Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Ptpn13 T A 5: 103,717,592 (GRCm39) S1879R probably damaging Het
Rasgrp3 A T 17: 75,818,975 (GRCm39) Q388L probably benign Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Rnf38 A T 4: 44,149,100 (GRCm39) N82K possibly damaging Het
Smco3 T A 6: 136,808,692 (GRCm39) T61S possibly damaging Het
Ssx2ip T C 3: 146,138,245 (GRCm39) V364A probably benign Het
Ttn A G 2: 76,595,109 (GRCm39) I20347T possibly damaging Het
Vmn2r120 A T 17: 57,829,466 (GRCm39) F477Y possibly damaging Het
Wee1 A G 7: 109,730,165 (GRCm39) H423R probably damaging 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
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'- TGGCTTAGCATCACATGGTTAC -3'
(R):5'- ACATGGGCTATTCAAGGAGTGG -3'

Sequencing Primer
(F):5'- TGGGACAAGATACCTGGAAAAGAGC -3'
(R):5'- CAAGGAGTGGTTAGTTGGGCC -3'
Posted On 2015-07-07