Incidental Mutation 'R8774:Fhip1a'
ID 664586
Institutional Source Beutler Lab
Gene Symbol Fhip1a
Ensembl Gene ENSMUSG00000051000
Gene Name FHF complex subunit HOOK interacting protein 1A
Synonyms 9930021J17Rik, Fam160a1
MMRRC Submission 068628-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8774 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 85567370-85653516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 85580097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 703 (Q703E)
Ref Sequence ENSEMBL: ENSMUSP00000091700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094148] [ENSMUST00000118408] [ENSMUST00000119077] [ENSMUST00000154148]
AlphaFold Q505K2
Predicted Effect probably benign
Transcript: ENSMUST00000094148
AA Change: Q703E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: Q703E

DomainStartEndE-ValueType
Pfam:RAI16-like 88 411 1.2e-102 PFAM
low complexity region 483 500 N/A INTRINSIC
low complexity region 613 622 N/A INTRINSIC
low complexity region 838 853 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118408
AA Change: Q703E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: Q703E

DomainStartEndE-ValueType
Pfam:RAI16-like 88 411 1.1e-98 PFAM
low complexity region 483 500 N/A INTRINSIC
low complexity region 613 622 N/A INTRINSIC
low complexity region 838 853 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119077
SMART Domains Protein: ENSMUSP00000112705
Gene: ENSMUSG00000051000

DomainStartEndE-ValueType
low complexity region 67 84 N/A INTRINSIC
low complexity region 197 206 N/A INTRINSIC
low complexity region 422 437 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154148
SMART Domains Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

DomainStartEndE-ValueType
Arfaptin 1 227 7.15e-121 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,090,358 (GRCm39) S364P possibly damaging Het
Abcc2 T A 19: 43,787,577 (GRCm39) Y208N probably damaging Het
Acy1 A T 9: 106,313,913 (GRCm39) D82E probably damaging Het
Ankub1 A G 3: 57,597,802 (GRCm39) L56P probably damaging Het
Aoc1 T A 6: 48,885,529 (GRCm39) F678Y probably damaging Het
Asxl3 C A 18: 22,657,101 (GRCm39) Q1704K probably damaging Het
Atg9b T C 5: 24,595,571 (GRCm39) D236G probably damaging Het
Auh A T 13: 52,993,631 (GRCm39) M261K probably benign Het
C2cd6 A T 1: 59,099,825 (GRCm39) M372K possibly damaging Het
Ccdc88b A T 19: 6,825,090 (GRCm39) N1287K probably damaging Het
Cebpz A G 17: 79,229,073 (GRCm39) S958P probably benign Het
Cgn T A 3: 94,680,810 (GRCm39) Q576L probably damaging Het
Chd7 T A 4: 8,854,692 (GRCm39) M2011K probably damaging Het
Cntnap4 A G 8: 113,529,820 (GRCm39) E676G probably benign Het
Cspp1 A T 1: 10,183,139 (GRCm39) E781D possibly damaging Het
Cyb5d2 A C 11: 72,679,901 (GRCm39) probably null Het
Epn3 G T 11: 94,383,220 (GRCm39) P335T possibly damaging Het
Far2 T A 6: 148,047,629 (GRCm39) S103T probably benign Het
Fhl2 A G 1: 43,162,751 (GRCm39) S255P probably damaging Het
Fmnl2 T A 2: 52,932,321 (GRCm39) V100D Het
Gabbr1 T C 17: 37,382,749 (GRCm39) L814P probably damaging Het
Gzmg C T 14: 56,394,193 (GRCm39) V234I probably benign Het
Ift172 A G 5: 31,415,207 (GRCm39) V1334A probably benign Het
Itga8 C G 2: 12,187,495 (GRCm39) G728A probably damaging Het
Klrg1 T C 6: 122,255,193 (GRCm39) T80A probably benign Het
Lrp4 A G 2: 91,308,043 (GRCm39) N496S probably benign Het
Lsmem1 G T 12: 40,227,145 (GRCm39) N113K probably damaging Het
Map3k2 G A 18: 32,345,117 (GRCm39) S314N probably damaging Het
Mtpap C T 18: 4,387,032 (GRCm39) R361* probably null Het
Muc5b T A 7: 141,418,831 (GRCm39) S3926T probably benign Het
Nat10 C A 2: 103,561,752 (GRCm39) R643L probably damaging Het
Ncbp3 T C 11: 72,938,808 (GRCm39) V28A probably benign Het
Nlrp9a T C 7: 26,257,984 (GRCm39) L534P possibly damaging Het
Nmi T C 2: 51,848,974 (GRCm39) K39E probably benign Het
Nxpe4 A G 9: 48,304,692 (GRCm39) N260D probably benign Het
Or4k38 T C 2: 111,166,318 (GRCm39) Y35C probably damaging Het
Or51aa2 C A 7: 103,187,965 (GRCm39) V159L probably benign Het
Or6c213 T A 10: 129,573,926 (GRCm39) I287F probably damaging Het
Or8c19-ps1 G A 9: 38,220,600 (GRCm39) A170T unknown Het
Phf2 G T 13: 48,971,878 (GRCm39) probably benign Het
Pirb G T 7: 3,720,728 (GRCm39) L257M probably damaging Het
Plcg2 A T 8: 118,306,585 (GRCm39) D313V possibly damaging Het
Ppard G A 17: 28,517,864 (GRCm39) V311I possibly damaging Het
Ptcd1 A T 5: 145,092,175 (GRCm39) M308K probably damaging Het
Pygo1 A G 9: 72,852,436 (GRCm39) N208D possibly damaging Het
Robo1 T G 16: 72,832,719 (GRCm39) D1497E probably benign Het
Sdk2 T C 11: 113,730,169 (GRCm39) D1022G probably damaging Het
Shc3 G A 13: 51,615,475 (GRCm39) H161Y probably damaging Het
Slc15a1 G T 14: 121,724,423 (GRCm39) Q150K probably damaging Het
Slc6a11 C A 6: 114,206,995 (GRCm39) probably benign Het
Sod1 T G 16: 90,023,039 (GRCm39) V120G probably damaging Het
Spata31g1 T C 4: 42,971,087 (GRCm39) L140P probably damaging Het
Sprr2f T A 3: 92,273,323 (GRCm39) C41S unknown Het
Svil A T 18: 5,049,068 (GRCm39) Y115F probably damaging Het
Tdp1 T C 12: 99,877,917 (GRCm39) S400P probably damaging Het
Thbs4 A T 13: 92,898,030 (GRCm39) D596E probably damaging Het
Tshz1 T A 18: 84,033,101 (GRCm39) M436L possibly damaging Het
Ube3c C T 5: 29,812,029 (GRCm39) T423I probably benign Het
Unc93a A T 17: 13,341,837 (GRCm39) I98N probably damaging Het
Usp33 T A 3: 152,085,213 (GRCm39) Y624* probably null Het
Utp20 A G 10: 88,588,763 (GRCm39) probably benign Het
Vmn1r217 T A 13: 23,298,108 (GRCm39) M265L probably benign Het
Vmn1r222 A T 13: 23,416,418 (GRCm39) M265K probably benign Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Zfp867 A G 11: 59,354,837 (GRCm39) F164S probably damaging Het
Zswim1 C T 2: 164,668,062 (GRCm39) T438I probably benign Het
Other mutations in Fhip1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Fhip1a APN 3 85,579,925 (GRCm39) missense probably benign 0.01
IGL01102:Fhip1a APN 3 85,572,808 (GRCm39) intron probably benign
IGL01317:Fhip1a APN 3 85,580,153 (GRCm39) missense probably benign 0.01
IGL01759:Fhip1a APN 3 85,595,754 (GRCm39) missense probably damaging 1.00
IGL02007:Fhip1a APN 3 85,629,752 (GRCm39) missense probably damaging 1.00
IGL02037:Fhip1a APN 3 85,637,939 (GRCm39) missense probably damaging 0.99
IGL02163:Fhip1a APN 3 85,595,859 (GRCm39) missense possibly damaging 0.92
IGL02192:Fhip1a APN 3 85,580,633 (GRCm39) missense possibly damaging 0.82
IGL02617:Fhip1a APN 3 85,580,344 (GRCm39) missense probably benign 0.00
PIT4378001:Fhip1a UTSW 3 85,637,858 (GRCm39) missense probably damaging 1.00
PIT4520001:Fhip1a UTSW 3 85,579,779 (GRCm39) nonsense probably null
PIT4651001:Fhip1a UTSW 3 85,590,948 (GRCm39) missense probably damaging 1.00
R0590:Fhip1a UTSW 3 85,579,683 (GRCm39) missense probably benign 0.13
R0625:Fhip1a UTSW 3 85,637,807 (GRCm39) missense possibly damaging 0.84
R0648:Fhip1a UTSW 3 85,637,921 (GRCm39) missense probably damaging 1.00
R0931:Fhip1a UTSW 3 85,580,550 (GRCm39) missense probably benign
R0940:Fhip1a UTSW 3 85,572,797 (GRCm39) missense possibly damaging 0.92
R0941:Fhip1a UTSW 3 85,580,366 (GRCm39) missense probably benign 0.03
R1115:Fhip1a UTSW 3 85,629,802 (GRCm39) missense probably benign 0.02
R1161:Fhip1a UTSW 3 85,579,775 (GRCm39) missense probably damaging 0.96
R1460:Fhip1a UTSW 3 85,638,183 (GRCm39) missense probably damaging 1.00
R1503:Fhip1a UTSW 3 85,579,784 (GRCm39) missense possibly damaging 0.70
R1545:Fhip1a UTSW 3 85,573,261 (GRCm39) missense probably damaging 1.00
R1820:Fhip1a UTSW 3 85,573,136 (GRCm39) missense probably damaging 1.00
R1907:Fhip1a UTSW 3 85,579,940 (GRCm39) missense probably benign 0.00
R1911:Fhip1a UTSW 3 85,568,525 (GRCm39) missense probably benign 0.12
R1928:Fhip1a UTSW 3 85,595,838 (GRCm39) missense probably damaging 1.00
R2200:Fhip1a UTSW 3 85,637,628 (GRCm39) missense probably damaging 1.00
R2235:Fhip1a UTSW 3 85,568,408 (GRCm39) missense probably damaging 0.97
R2373:Fhip1a UTSW 3 85,583,404 (GRCm39) nonsense probably null
R3084:Fhip1a UTSW 3 85,573,275 (GRCm39) critical splice acceptor site probably null
R4125:Fhip1a UTSW 3 85,572,690 (GRCm39) missense possibly damaging 0.87
R4601:Fhip1a UTSW 3 85,648,487 (GRCm39) missense probably damaging 1.00
R4612:Fhip1a UTSW 3 85,637,679 (GRCm39) nonsense probably null
R4665:Fhip1a UTSW 3 85,637,988 (GRCm39) missense probably damaging 1.00
R4673:Fhip1a UTSW 3 85,638,020 (GRCm39) missense probably damaging 1.00
R4707:Fhip1a UTSW 3 85,595,877 (GRCm39) missense probably damaging 1.00
R4783:Fhip1a UTSW 3 85,595,877 (GRCm39) missense probably damaging 1.00
R4785:Fhip1a UTSW 3 85,595,877 (GRCm39) missense probably damaging 1.00
R4825:Fhip1a UTSW 3 85,580,739 (GRCm39) missense possibly damaging 0.93
R4884:Fhip1a UTSW 3 85,590,918 (GRCm39) missense probably damaging 1.00
R5653:Fhip1a UTSW 3 85,629,808 (GRCm39) missense probably damaging 1.00
R5663:Fhip1a UTSW 3 85,579,740 (GRCm39) missense probably benign
R5764:Fhip1a UTSW 3 85,573,172 (GRCm39) missense probably damaging 1.00
R6134:Fhip1a UTSW 3 85,580,651 (GRCm39) missense possibly damaging 0.93
R6284:Fhip1a UTSW 3 85,579,995 (GRCm39) missense probably benign 0.01
R6789:Fhip1a UTSW 3 85,579,865 (GRCm39) nonsense probably null
R6843:Fhip1a UTSW 3 85,580,352 (GRCm39) missense probably damaging 0.96
R7305:Fhip1a UTSW 3 85,637,831 (GRCm39) missense probably damaging 1.00
R7406:Fhip1a UTSW 3 85,637,784 (GRCm39) missense probably benign 0.13
R7448:Fhip1a UTSW 3 85,579,871 (GRCm39) missense probably benign 0.00
R7469:Fhip1a UTSW 3 85,580,069 (GRCm39) missense probably benign 0.00
R7578:Fhip1a UTSW 3 85,573,205 (GRCm39) missense probably damaging 0.99
R7707:Fhip1a UTSW 3 85,583,560 (GRCm39) missense probably benign 0.21
R8071:Fhip1a UTSW 3 85,637,868 (GRCm39) missense probably damaging 1.00
R8093:Fhip1a UTSW 3 85,580,111 (GRCm39) missense probably benign 0.01
R8151:Fhip1a UTSW 3 85,595,847 (GRCm39) missense probably damaging 1.00
R8391:Fhip1a UTSW 3 85,595,788 (GRCm39) missense probably damaging 0.98
R8406:Fhip1a UTSW 3 85,580,027 (GRCm39) missense probably benign 0.02
R8774-TAIL:Fhip1a UTSW 3 85,580,097 (GRCm39) missense probably benign 0.00
R8843:Fhip1a UTSW 3 85,568,318 (GRCm39) missense possibly damaging 0.89
R9079:Fhip1a UTSW 3 85,579,590 (GRCm39) nonsense probably null
R9277:Fhip1a UTSW 3 85,579,565 (GRCm39) missense probably benign 0.25
R9302:Fhip1a UTSW 3 85,579,941 (GRCm39) missense probably damaging 0.99
R9324:Fhip1a UTSW 3 85,638,053 (GRCm39) missense probably benign 0.16
R9494:Fhip1a UTSW 3 85,583,565 (GRCm39) nonsense probably null
R9516:Fhip1a UTSW 3 85,580,559 (GRCm39) nonsense probably null
R9638:Fhip1a UTSW 3 85,568,391 (GRCm39) missense probably damaging 0.99
R9654:Fhip1a UTSW 3 85,579,532 (GRCm39) missense probably damaging 1.00
Z1176:Fhip1a UTSW 3 85,580,508 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGGCTCATTCTCTGGCTTG -3'
(R):5'- AGGGGTCCTACATTGAGGAGTC -3'

Sequencing Primer
(F):5'- CTCTGGCTTGGCTTCTGAGAAC -3'
(R):5'- GTCCTACATTGAGGAGTCAGACTTC -3'
Posted On 2021-03-08