Incidental Mutation 'R6906:Fhip1b'
ID 538778
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 044998-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6906 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 105020418-105049261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105037476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 369 (T369I)
Ref Sequence ENSEMBL: ENSMUSP00000074252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048079] [ENSMUST00000074686] [ENSMUST00000118726] [ENSMUST00000122327] [ENSMUST00000137158] [ENSMUST00000179474] [ENSMUST00000210448] [ENSMUST00000211549]
AlphaFold Q3U2I3
Predicted Effect possibly damaging
Transcript: ENSMUST00000048079
AA Change: T369I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: T369I

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: T369I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: T369I

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: T369I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
AA Change: T369I

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 damaging
Transcript: ENSMUST00000122327
AA Change: T369I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: T369I

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 probably benign
Transcript: ENSMUST00000137158
SMART Domains Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 259 7.2e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179474
AA Change: T369I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: T369I

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 probably benign
Transcript: ENSMUST00000210448
Predicted Effect probably benign
Transcript: ENSMUST00000211549
Meta Mutation Damage Score 0.3202 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (45/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 A G 5: 24,773,840 (GRCm39) F350L possibly damaging Het
Ahnak2 T A 12: 112,748,933 (GRCm39) T305S probably benign Het
Anp32a A G 9: 62,284,851 (GRCm39) probably benign Het
Aplf A G 6: 87,607,068 (GRCm39) S449P possibly damaging Het
Arl6ip4 A G 5: 124,254,614 (GRCm39) R36G possibly damaging Het
Ascc1 G A 10: 59,840,674 (GRCm39) D12N probably benign Het
Bin1 C A 18: 32,554,978 (GRCm39) H243Q probably benign Het
Ccdc168 C T 1: 44,095,173 (GRCm39) S1975N probably benign Het
Ccdc7a C A 8: 129,662,162 (GRCm39) V547L unknown Het
Cntnap5c T A 17: 58,702,302 (GRCm39) N1207K probably benign Het
Coro7 C A 16: 4,451,168 (GRCm39) R507L probably benign Het
Crtap T A 9: 114,210,700 (GRCm39) K291N probably benign Het
Csmd3 T C 15: 47,710,569 (GRCm39) T1569A probably benign Het
Dmrta1 A G 4: 89,580,203 (GRCm39) T388A probably benign Het
Ehd3 T C 17: 74,137,333 (GRCm39) F501L probably damaging Het
Fbn2 A C 18: 58,204,891 (GRCm39) L1184R possibly damaging Het
Hsf1 T C 15: 76,361,919 (GRCm39) probably null Het
Hycc1 A T 5: 24,204,956 (GRCm39) W12R probably damaging Het
Kansl1l T C 1: 66,762,437 (GRCm39) H810R possibly damaging Het
Lrp5 A T 19: 3,672,638 (GRCm39) I557N probably damaging Het
Lypd1 T C 1: 125,838,196 (GRCm39) E41G probably damaging Het
Mgam A G 6: 40,724,853 (GRCm39) Y443C probably damaging Het
Muc2 A G 7: 141,284,976 (GRCm39) D871G probably damaging Het
Nup85 T A 11: 115,471,769 (GRCm39) Y198N probably damaging Het
Obscn T A 11: 58,923,744 (GRCm39) M6578L possibly damaging Het
Or8h7 T C 2: 86,721,091 (GRCm39) T143A probably benign Het
Osbpl5 G C 7: 143,248,065 (GRCm39) Q667E probably damaging Het
Ovgp1 T A 3: 105,894,189 (GRCm39) probably benign Het
Prl8a2 T A 13: 27,532,900 (GRCm39) N37K probably benign Het
Ptprf A T 4: 118,126,474 (GRCm39) I93N possibly damaging Het
Rnf112 T C 11: 61,341,215 (GRCm39) S457G probably null Het
Sema3e A G 5: 14,290,601 (GRCm39) D562G probably damaging Het
Sesn3 A G 9: 14,236,937 (GRCm39) M472V probably damaging Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Shc3 T C 13: 51,620,595 (GRCm39) T144A probably damaging Het
Sis A G 3: 72,826,818 (GRCm39) L1287P probably damaging Het
Srrm2 C T 17: 24,039,337 (GRCm39) P2090S probably damaging Het
Syne2 T G 12: 76,042,760 (GRCm39) D3910E possibly damaging Het
Tcaim C T 9: 122,663,839 (GRCm39) T443I probably benign Het
Tex19.1 T C 11: 121,037,948 (GRCm39) V102A probably benign Het
Tpd52l1 T G 10: 31,208,950 (GRCm39) T168P possibly damaging Het
Trdn G A 10: 33,109,944 (GRCm39) C294Y probably benign Het
Trmt1l T C 1: 151,327,926 (GRCm39) Y479H probably benign Het
Vmn1r171 G A 7: 23,331,804 (GRCm39) V10I probably benign Het
Zbtb41 T A 1: 139,351,128 (GRCm39) D80E possibly damaging Het
Zcchc4 A G 5: 52,980,976 (GRCm39) K473E 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
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
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'- GAGAGCAGGAACACTCTTGGAC -3'
(R):5'- TGGTCGACCAGTGAAAGGAC -3'

Sequencing Primer
(F):5'- ACACTCTTGGACAATAGAGATCAG -3'
(R):5'- TCGACCAGTGAAAGGACTTATATG -3'
Posted On 2018-11-06