Incidental Mutation 'R6134:Fhip1a'
ID 487264
Institutional Source Beutler Lab
Gene Symbol Fhip1a
Ensembl Gene ENSMUSG00000051000
Gene Name FHF complex subunit HOOK interacting protein 1A
Synonyms 9930021J17Rik, Fam160a1
MMRRC Submission 044281-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6134 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 85567370-85653516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85580651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 518 (E518G)
Ref Sequence ENSEMBL: ENSMUSP00000113235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094148] [ENSMUST00000118408] [ENSMUST00000119077] [ENSMUST00000154148]
AlphaFold Q505K2
Predicted Effect possibly damaging
Transcript: ENSMUST00000094148
AA Change: E518G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: E518G

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: E518G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: E518G

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 noncoding transcript
Transcript: ENSMUST00000126445
Predicted Effect probably benign
Transcript: ENSMUST00000154148
SMART Domains Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

DomainStartEndE-ValueType
Arfaptin 1 227 7.15e-121 SMART
Meta Mutation Damage Score 0.1932 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 94% (51/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,767,619 (GRCm39) E39K probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aktip T A 8: 91,856,388 (GRCm39) S30C probably damaging Het
Anxa10 G T 8: 62,530,977 (GRCm39) H78N probably damaging Het
Aoah C T 13: 21,095,293 (GRCm39) R196W probably damaging Het
Arl4c A T 1: 88,629,152 (GRCm39) W79R probably damaging Het
Brd2 A T 17: 34,332,669 (GRCm39) D178E probably benign Het
Cacna1e G A 1: 154,577,037 (GRCm39) P120L probably damaging Het
Cdh16 A T 8: 105,342,697 (GRCm39) M17K probably benign Het
Cdhr17 A T 5: 17,029,683 (GRCm39) D473V probably damaging Het
Chit1 A G 1: 134,071,798 (GRCm39) T103A possibly damaging Het
Clcn3 T C 8: 61,387,607 (GRCm39) Y214C probably damaging Het
Coch T A 12: 51,649,536 (GRCm39) D282E probably damaging Het
Col1a2 C A 6: 4,538,035 (GRCm39) S1181R unknown Het
Col6a2 T C 10: 76,442,978 (GRCm39) D506G probably damaging Het
Crx A T 7: 15,602,032 (GRCm39) Y215* probably null Het
Fasn A T 11: 120,713,012 (GRCm39) S58T probably benign Het
Garem1 A T 18: 21,262,881 (GRCm39) D644E probably benign Het
H2-Q2 A C 17: 35,562,217 (GRCm39) T155P probably damaging Het
Insr A T 8: 3,242,572 (GRCm39) I49N probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lnpep A G 17: 17,773,454 (GRCm39) M639T probably benign Het
Lypd11 G A 7: 24,425,481 (GRCm39) A3V probably damaging Het
Map3k20 C T 2: 72,240,503 (GRCm39) S333F probably damaging Het
Miga2 A G 2: 30,261,229 (GRCm39) S175G probably benign Het
Muc3a A T 5: 137,244,579 (GRCm39) I191N probably damaging Het
Ncoa2 A G 1: 13,244,595 (GRCm39) V701A probably damaging Het
Nid2 T C 14: 19,828,851 (GRCm39) V565A probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Numbl G C 7: 26,980,739 (GRCm39) A574P probably damaging Het
Oas3 A G 5: 120,907,113 (GRCm39) V508A unknown Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pcdhb21 T A 18: 37,647,461 (GRCm39) S197T probably benign Het
Pck2 T A 14: 55,781,419 (GRCm39) M180K probably damaging Het
Pgr T C 9: 8,900,740 (GRCm39) V91A possibly damaging Het
Phtf1 A T 3: 103,911,721 (GRCm39) M643L probably damaging Het
Prokr1 T C 6: 87,565,837 (GRCm39) T3A possibly damaging Het
Ptgs1 T C 2: 36,141,190 (GRCm39) Y546H probably damaging Het
Rasa1 A G 13: 85,374,745 (GRCm39) L742P probably benign Het
Rbbp6 T C 7: 122,596,534 (GRCm39) probably null Het
Rgs22 A G 15: 36,107,194 (GRCm39) L64P probably damaging Het
Rnf213 A T 11: 119,302,296 (GRCm39) I407F probably damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Scin G A 12: 40,110,578 (GRCm39) P690L probably damaging Het
Septin9 T C 11: 117,242,987 (GRCm39) L58P probably damaging Het
Slc1a7 A G 4: 107,869,633 (GRCm39) E566G probably damaging Het
Speer4f1 G A 5: 17,681,140 (GRCm39) R6Q probably benign Het
Tnxb A T 17: 34,890,986 (GRCm39) Y443F probably damaging Het
Trpv1 A G 11: 73,135,143 (GRCm39) I79V probably benign Het
Ttll6 C T 11: 96,030,568 (GRCm39) T245I possibly damaging Het
Vmn2r26 T C 6: 124,038,444 (GRCm39) I673T probably damaging Het
Zfp60 T C 7: 27,449,323 (GRCm39) F664L 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
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
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'- AGTGTCGTAGCTGTCATCCC -3'
(R):5'- ACGAATTCCCACCTCTCTGATG -3'

Sequencing Primer
(F):5'- GTCGTAGCTGTCATCCCATTCTAG -3'
(R):5'- GATGCTGTCTGCTCTTGCACAG -3'
Posted On 2017-10-10