Incidental Mutation 'R1820:Fhip1a'
ID 204772
Institutional Source Beutler Lab
Gene Symbol Fhip1a
Ensembl Gene ENSMUSG00000051000
Gene Name FHF complex subunit HOOK interacting protein 1A
Synonyms 9930021J17Rik, Fam160a1
MMRRC Submission 039848-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1820 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 85567370-85653516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85573136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 938 (T938S)
Ref Sequence ENSEMBL: ENSMUSP00000113235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094148] [ENSMUST00000118408] [ENSMUST00000119077] [ENSMUST00000154148]
AlphaFold Q505K2
Predicted Effect probably damaging
Transcript: ENSMUST00000094148
AA Change: T938S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: T938S

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 damaging
Transcript: ENSMUST00000118408
AA Change: T938S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: T938S

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,197,018 (GRCm39) V197A possibly damaging Het
9230109A22Rik T C 15: 25,139,176 (GRCm39) noncoding transcript Het
Acbd3 A G 1: 180,572,703 (GRCm39) N321S probably benign Het
Actr3b T C 5: 26,054,156 (GRCm39) probably null Het
Aldh5a1 T C 13: 25,111,555 (GRCm39) D124G probably benign Het
Arhgap35 G A 7: 16,295,874 (GRCm39) R1064W possibly damaging Het
Arhgef9 T A X: 94,125,142 (GRCm39) I225F probably damaging Het
Arl16 T C 11: 120,357,587 (GRCm39) T43A probably damaging Het
Camsap3 T C 8: 3,653,485 (GRCm39) W409R probably damaging Het
Cfap43 T A 19: 47,885,655 (GRCm39) H320L probably damaging Het
Chac2 T A 11: 30,927,496 (GRCm39) N141I probably damaging Het
Chtf18 C A 17: 25,944,913 (GRCm39) G211C probably damaging Het
Cplane1 A G 15: 8,299,129 (GRCm39) K3106E unknown Het
Cwf19l1 T A 19: 44,115,826 (GRCm39) Y201F probably benign Het
Dcun1d1 A T 3: 35,973,153 (GRCm39) L114* probably null Het
Fdps A T 3: 89,002,350 (GRCm39) H249Q probably benign Het
Gabrg1 T A 5: 70,931,756 (GRCm39) Y329F probably damaging Het
Kctd8 T A 5: 69,497,684 (GRCm39) I321F probably damaging Het
Kdm5b G T 1: 134,525,408 (GRCm39) R299L possibly damaging Het
Kif23 T C 9: 61,833,720 (GRCm39) T494A possibly damaging Het
Kmt2e A G 5: 23,678,545 (GRCm39) H208R probably damaging Het
Lipo5 A T 19: 33,441,995 (GRCm39) probably null Het
Lrrc28 G T 7: 67,290,859 (GRCm39) T54K probably damaging Het
Luc7l2 G A 6: 38,575,754 (GRCm39) probably null Het
Man2a2 A G 7: 80,008,681 (GRCm39) F899L probably benign Het
Myo9b T C 8: 71,786,002 (GRCm39) I633T probably damaging Het
Nynrin A T 14: 56,107,835 (GRCm39) I981F possibly damaging Het
Or5an1c A T 19: 12,218,612 (GRCm39) S138T probably damaging Het
Or8g28 A G 9: 39,169,695 (GRCm39) I91T possibly damaging Het
Pank1 A G 19: 34,855,084 (GRCm39) probably null Het
Phc2 C T 4: 128,637,336 (GRCm39) A47V probably damaging Het
Plekhs1 A G 19: 56,466,954 (GRCm39) R262G possibly damaging Het
Pnp2 C A 14: 51,201,914 (GRCm39) P300Q possibly damaging Het
Polq T A 16: 36,849,780 (GRCm39) S345T possibly damaging Het
Prag1 A G 8: 36,570,958 (GRCm39) T514A probably benign Het
Psmd5 T C 2: 34,760,758 (GRCm39) probably null Het
Rfx6 T G 10: 51,599,221 (GRCm39) probably null Het
Rhbdd2 G A 5: 135,664,903 (GRCm39) C78Y probably damaging Het
Rnf157 G T 11: 116,245,477 (GRCm39) P313T probably damaging Het
Ryr2 A G 13: 11,602,202 (GRCm39) L4560P probably damaging Het
Scai A T 2: 38,996,990 (GRCm39) M268K possibly damaging Het
Scd3 A T 19: 44,230,245 (GRCm39) T343S probably benign Het
Scimp A T 11: 70,682,423 (GRCm39) S98T probably benign Het
Sfrp2 A G 3: 83,680,461 (GRCm39) N207S probably benign Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sis T C 3: 72,828,475 (GRCm39) Y1200C probably damaging Het
Sp1 T A 15: 102,317,511 (GRCm39) S343R possibly damaging Het
Spata31d1a A T 13: 59,849,069 (GRCm39) C1020S possibly damaging Het
Spink5 A G 18: 44,122,486 (GRCm39) N317S possibly damaging Het
Sptbn2 A G 19: 4,776,624 (GRCm39) D224G probably damaging Het
St8sia3 T C 18: 64,402,703 (GRCm39) I114T probably damaging Het
Zscan5b C A 7: 6,242,162 (GRCm39) H460Q 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
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
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'- CTGCCTGTGTTCCTGGTAAG -3'
(R):5'- TGCAGTTCTGCGGACACTTG -3'

Sequencing Primer
(F):5'- TGGTAAGGAACTCTCAAAACATCAAG -3'
(R):5'- GTCCCTCATGTCCAGCCAG -3'
Posted On 2014-06-23