Incidental Mutation 'R2042:Fhip1b'
ID 225072
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 040049-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2042 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 105020418-105049261 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 105033328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 629 (Y629*)
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 probably null
Transcript: ENSMUST00000048079
AA Change: Y643*
SMART Domains Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: Y643*

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 null
Transcript: ENSMUST00000074686
AA Change: Y629*
SMART Domains Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: Y629*

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 null
Transcript: ENSMUST00000122327
AA Change: Y629*
SMART Domains Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: Y629*

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 null
Transcript: ENSMUST00000179474
AA Change: Y629*
SMART Domains Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: Y629*

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 probably benign
Transcript: ENSMUST00000211549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142559
Predicted Effect probably benign
Transcript: ENSMUST00000210448
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T A 3: 124,210,377 (GRCm39) probably benign Het
Abca16 G A 7: 120,143,941 (GRCm39) R1653Q probably benign Het
Ahnak2 T A 12: 112,749,439 (GRCm39) Y176F probably damaging Het
Ano6 T C 15: 95,853,904 (GRCm39) probably null Het
Atr T C 9: 95,752,075 (GRCm39) L564S probably benign Het
Birc6 C G 17: 74,916,654 (GRCm39) A1774G probably damaging Het
Cacng1 C T 11: 107,595,134 (GRCm39) A148T probably damaging Het
Cd53 T A 3: 106,674,740 (GRCm39) probably null Het
Celsr2 A G 3: 108,309,811 (GRCm39) F1596S probably damaging Het
Cep120 A T 18: 53,868,814 (GRCm39) F122I possibly damaging Het
Ckm A T 7: 19,148,082 (GRCm39) H7L possibly damaging Het
Crybg2 T C 4: 133,814,844 (GRCm39) V1575A possibly damaging Het
Cspp1 A G 1: 10,182,763 (GRCm39) E712G probably damaging Het
Cyp2b23 C A 7: 26,365,533 (GRCm39) R434L probably damaging Het
D630003M21Rik A T 2: 158,057,769 (GRCm39) S570T probably damaging Het
Dmbt1 A G 7: 130,708,089 (GRCm39) I1444V probably damaging Het
Dnah8 T C 17: 30,854,632 (GRCm39) V98A probably benign Het
Dtx1 T G 5: 120,832,541 (GRCm39) N299T probably benign Het
Efr3b T A 12: 4,034,627 (GRCm39) D65V probably damaging Het
Eml4 T C 17: 83,755,607 (GRCm39) C323R probably damaging Het
Eps15 C T 4: 109,161,964 (GRCm39) T31I probably damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbxl8 A T 8: 105,994,856 (GRCm39) I123F probably damaging Het
Fbxw26 T G 9: 109,561,772 (GRCm39) T141P probably damaging Het
Glra3 G A 8: 56,515,494 (GRCm39) D190N probably benign Het
Hspg2 T C 4: 137,295,677 (GRCm39) L4229P probably damaging Het
Ipmk C T 10: 71,199,333 (GRCm39) R65W probably damaging Het
Irs2 A G 8: 11,057,580 (GRCm39) I284T probably damaging Het
Klhl22 T C 16: 17,610,284 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,292,851 (GRCm39) D234E probably benign Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Magi1 A T 6: 93,732,026 (GRCm39) N209K probably benign Het
Mak A C 13: 41,202,912 (GRCm39) S179A possibly damaging Het
Map3k4 C A 17: 12,496,870 (GRCm39) R87L probably damaging Het
Map4k1 T C 7: 28,683,555 (GRCm39) L53P probably damaging Het
Melk T C 4: 44,309,051 (GRCm39) probably null Het
Mks1 C T 11: 87,747,494 (GRCm39) probably benign Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
N4bp2 C T 5: 65,983,964 (GRCm39) P1670S probably damaging Het
Ncf1 C G 5: 134,255,494 (GRCm39) Q132H probably benign Het
Nemp1 T C 10: 127,532,203 (GRCm39) S370P possibly damaging Het
Nt5c3b T C 11: 100,327,020 (GRCm39) H92R probably benign Het
Or12j2 T C 7: 139,915,850 (GRCm39) L25P probably damaging Het
Or4p19 G A 2: 88,242,546 (GRCm39) A152V possibly damaging Het
P4ha3 T C 7: 99,949,897 (GRCm39) probably null Het
Pcnx1 C A 12: 81,965,067 (GRCm39) H411Q probably damaging Het
Podxl A G 6: 31,500,051 (GRCm39) V473A possibly damaging Het
Prkd2 T C 7: 16,590,193 (GRCm39) S530P possibly damaging Het
Scin A G 12: 40,127,509 (GRCm39) I427T possibly damaging Het
Sgo2b T C 8: 64,381,561 (GRCm39) T424A probably benign Het
Slc22a2 T C 17: 12,818,012 (GRCm39) I196T probably benign Het
Slc47a2 C A 11: 61,228,908 (GRCm39) V90L probably benign Het
Slc4a7 G A 14: 14,737,386 (GRCm38) V99M probably damaging Het
Spata31f3 C T 4: 42,874,030 (GRCm39) C46Y possibly damaging Het
Sprr2k T C 3: 92,340,763 (GRCm39) probably benign Het
Spta1 G A 1: 174,039,213 (GRCm39) M1185I probably benign Het
Tent5b T C 4: 133,213,924 (GRCm39) V265A possibly damaging Het
Uaca T C 9: 60,777,173 (GRCm39) V518A probably damaging Het
Ubr3 C T 2: 69,808,118 (GRCm39) Q1200* probably null Het
Ufm1 A G 3: 53,766,702 (GRCm39) probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp142 G A 1: 74,609,778 (GRCm39) T1236I probably benign Het
Zfp236 A G 18: 82,651,234 (GRCm39) Y845H probably damaging Het
Zfp747l1 A T 7: 126,984,641 (GRCm39) C154S possibly damaging Het
Zfp787 T C 7: 6,135,763 (GRCm39) K163E possibly 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
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'- ATTGCTCAATGCCACCTCCAG -3'
(R):5'- ATTACCTGGAGTATCTGCGTG -3'

Sequencing Primer
(F):5'- AATGCCACCTCCAGCTCCTG -3'
(R):5'- TGTAGACCGCTGTGTCCGAG -3'
Posted On 2014-08-25