Incidental Mutation 'R8843:Fhip1a'
ID 674520
Institutional Source Beutler Lab
Gene Symbol Fhip1a
Ensembl Gene ENSMUSG00000051000
Gene Name FHF complex subunit HOOK interacting protein 1A
Synonyms 9930021J17Rik, Fam160a1
MMRRC Submission 068670-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8843 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 85567370-85653516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85568318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1067 (I1067T)
Ref Sequence ENSEMBL: ENSMUSP00000091700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094148] [ENSMUST00000118408] [ENSMUST00000119077] [ENSMUST00000154148]
AlphaFold Q505K2
Predicted Effect possibly damaging
Transcript: ENSMUST00000094148
AA Change: I1067T

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: I1067T

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 possibly damaging
Transcript: ENSMUST00000118408
AA Change: I1067T

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: I1067T

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: 99.1%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 C G 9: 21,440,331 (GRCm39) Q106E probably benign Het
Abi2 A G 1: 60,492,888 (GRCm39) M387V probably null Het
Adra2c A T 5: 35,437,707 (GRCm39) N160Y probably damaging Het
Ager G A 17: 34,819,716 (GRCm39) R383H probably benign Het
Arhgef28 C T 13: 98,130,557 (GRCm39) R427H probably benign Het
Atl1 T A 12: 69,972,922 (GRCm39) S81T probably damaging Het
Ccdc80 T A 16: 44,947,470 (GRCm39) probably benign Het
Cdh10 T A 15: 19,013,487 (GRCm39) F696I possibly damaging Het
Cdk2ap2 T C 19: 4,147,429 (GRCm39) S2P unknown Het
Cela1 G A 15: 100,580,821 (GRCm39) T145I probably benign Het
Celsr2 A T 3: 108,303,443 (GRCm39) probably benign Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Col22a1 A G 15: 71,878,503 (GRCm39) I218T probably damaging Het
Copb1 T C 7: 113,820,935 (GRCm39) I785V possibly damaging Het
Dnajc16 A T 4: 141,492,002 (GRCm39) V607E possibly damaging Het
Dnali1 A T 4: 124,957,414 (GRCm39) L110Q probably damaging Het
Epn1 A G 7: 5,096,375 (GRCm39) E223G probably benign Het
Erbb3 A G 10: 128,414,325 (GRCm39) L473P possibly damaging Het
Gadl1 T A 9: 115,835,569 (GRCm39) D332E probably benign Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Heg1 A G 16: 33,570,863 (GRCm39) S1188G probably null Het
Hipk3 G A 2: 104,268,242 (GRCm39) A575V probably benign Het
Htt T A 5: 35,046,809 (GRCm39) I2375N possibly damaging Het
Klhl24 A T 16: 19,938,980 (GRCm39) K512* probably null Het
Krtdap A T 7: 30,488,952 (GRCm39) Y40F probably damaging Het
Lhx1 A T 11: 84,410,455 (GRCm39) S381T probably benign Het
Lnpep G A 17: 17,773,203 (GRCm39) P655L probably damaging Het
Map6d1 A G 16: 20,055,386 (GRCm39) V150A probably benign Het
Marchf10 A G 11: 105,292,802 (GRCm39) S202P possibly damaging Het
Med1 A C 11: 98,080,102 (GRCm39) L13R possibly damaging Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Myh7 T G 14: 55,212,752 (GRCm39) D1431A probably damaging Het
Myo3b G T 2: 70,088,325 (GRCm39) G863W probably damaging Het
Nat8f1 G T 6: 85,887,907 (GRCm39) Q18K probably benign Het
Ncaph A G 2: 126,950,529 (GRCm39) V576A probably benign Het
Nfkbia T G 12: 55,539,196 (GRCm39) D39A possibly damaging Het
Nrxn2 G T 19: 6,555,057 (GRCm39) G1179C probably damaging Het
Or12k8 A C 2: 36,975,307 (GRCm39) V151G probably damaging Het
P4ha1 A G 10: 59,205,455 (GRCm39) D495G probably damaging Het
Phf20 C T 2: 156,144,843 (GRCm39) A817V probably benign Het
Phlpp2 A T 8: 110,652,431 (GRCm39) I592F probably benign Het
Polq A G 16: 36,832,280 (GRCm39) S7G unknown Het
Ppfia3 G T 7: 44,997,941 (GRCm39) Q729K probably benign Het
Prmt8 A C 6: 127,706,462 (GRCm39) F110V probably damaging Het
Psca A T 15: 74,587,868 (GRCm39) probably null Het
Pus7 G T 5: 23,980,754 (GRCm39) D165E probably benign Het
Raver2 A G 4: 100,994,942 (GRCm39) E555G probably damaging Het
Rb1cc1 G A 1: 6,315,395 (GRCm39) V457M probably damaging Het
Rbp3 A G 14: 33,676,522 (GRCm39) R157G probably benign Het
Rin3 T G 12: 102,335,857 (GRCm39) H589Q probably benign Het
Scart2 A C 7: 139,828,913 (GRCm39) T191P possibly damaging Het
Sgk2 T A 2: 162,854,890 (GRCm39) S334T probably damaging Het
Sh2d4b T C 14: 40,614,832 (GRCm39) M31V probably benign Het
Slc23a3 G A 1: 75,106,271 (GRCm39) T316I probably damaging Het
Slc5a4b C A 10: 75,910,925 (GRCm39) G304C probably damaging Het
Slc7a14 A G 3: 31,311,759 (GRCm39) V87A probably damaging Het
Slitrk3 A T 3: 72,956,164 (GRCm39) N869K probably benign Het
St8sia6 T C 2: 13,661,896 (GRCm39) R312G possibly damaging Het
Strip2 A T 6: 29,923,968 (GRCm39) E94V probably benign Het
Sycp2 T C 2: 177,990,052 (GRCm39) D1398G probably damaging Het
Syne1 C A 10: 5,143,040 (GRCm39) V114F possibly damaging Het
Syne1 T C 10: 5,280,204 (GRCm39) K1630E probably benign Het
Sytl2 A G 7: 90,025,334 (GRCm39) N441D probably benign Het
Thsd7a A G 6: 12,501,136 (GRCm39) C424R Het
Tln2 T C 9: 67,302,827 (GRCm39) D48G probably damaging Het
Treml1 A G 17: 48,673,852 (GRCm39) T288A probably damaging Het
Ttn T C 2: 76,596,113 (GRCm39) I20267V probably benign Het
Ttn A T 2: 76,679,259 (GRCm39) V10821D unknown Het
Vmn2r111 A C 17: 22,767,011 (GRCm39) S829A probably benign Het
Xcl1 T A 1: 164,763,079 (GRCm39) probably benign Het
Zdhhc23 A T 16: 43,794,227 (GRCm39) V149E probably damaging Het
Zfp273 A T 13: 67,970,387 (GRCm39) I12F possibly damaging Het
Zfp874a A T 13: 67,590,764 (GRCm39) C307S probably damaging 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:Fhip1a UTSW 3 85,580,097 (GRCm39) missense probably benign 0.00
R8774-TAIL:Fhip1a UTSW 3 85,580,097 (GRCm39) missense probably benign 0.00
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'- ACATTCTGTGTAACAAGGGGAGAC -3'
(R):5'- AAGACCCTTTTGGATGGCCC -3'

Sequencing Primer
(F):5'- GAGGAGGTGTACCAAAACCCC -3'
(R):5'- TTTGGATGGCCCTCCACGTG -3'
Posted On 2021-07-15