Incidental Mutation 'R1122:Fhip2a'
ID 95802
Institutional Source Beutler Lab
Gene Symbol Fhip2a
Ensembl Gene ENSMUSG00000033478
Gene Name FHF complex subunit HOOK interacting protein 2A
Synonyms Fam160b1
MMRRC Submission 039195-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R1122 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 57349355-57378026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57370733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 551 (T551S)
Ref Sequence ENSEMBL: ENSMUSP00000048903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036407]
AlphaFold Q8CDM8
Predicted Effect probably benign
Transcript: ENSMUST00000036407
AA Change: T551S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000048903
Gene: ENSMUSG00000033478
AA Change: T551S

DomainStartEndE-ValueType
Pfam:RAI16-like 78 495 1.1e-144 PFAM
low complexity region 713 724 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 69,902,203 (GRCm39) L469F probably damaging Het
Adgrb1 C A 15: 74,419,534 (GRCm39) R792S probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap15 A T 2: 44,032,307 (GRCm39) H297L probably benign Het
Chtf18 T C 17: 25,943,597 (GRCm39) E333G probably damaging Het
Cyb5a A G 18: 84,895,964 (GRCm39) T77A possibly damaging Het
Entrep1 T C 19: 23,952,756 (GRCm39) E518G probably damaging Het
Exosc10 T C 4: 148,650,821 (GRCm39) W456R possibly damaging Het
Gad2 A T 2: 22,513,463 (GRCm39) Q31L possibly damaging Het
Gm9637 T A 14: 19,401,879 (GRCm38) noncoding transcript Het
Itgav A G 2: 83,622,283 (GRCm39) T622A probably benign Het
Kifc5b T A 17: 27,143,035 (GRCm39) V269E probably benign Het
Lrrc15 T C 16: 30,092,719 (GRCm39) N207D probably damaging Het
Map2k5 A G 9: 63,170,445 (GRCm39) V291A probably damaging Het
Mrc1 G A 2: 14,266,147 (GRCm39) probably null Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Or12d12 T A 17: 37,611,019 (GRCm39) Q98L probably damaging Het
Or1o2 T A 17: 37,542,934 (GRCm39) D109V probably damaging Het
Pdzd2 A G 15: 12,457,981 (GRCm39) V294A probably benign Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rnf220 C T 4: 117,135,277 (GRCm39) G171S probably benign Het
Slc6a4 T C 11: 76,918,012 (GRCm39) S585P possibly damaging Het
Slc7a8 T C 14: 54,961,564 (GRCm39) E528G probably benign Het
Slco4c1 A G 1: 96,756,561 (GRCm39) I587T possibly damaging Het
Syt4 T A 18: 31,573,255 (GRCm39) H420L probably damaging Het
Tec T C 5: 72,936,792 (GRCm39) K236E probably damaging Het
Ttn A G 2: 76,545,676 (GRCm39) V32549A probably damaging Het
Uqcc4 T C 17: 25,403,846 (GRCm39) I62T probably benign Het
Wdfy3 T C 5: 102,030,832 (GRCm39) H2299R possibly damaging Het
Zfp729b A G 13: 67,743,403 (GRCm39) V64A possibly damaging Het
Other mutations in Fhip2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Fhip2a APN 19 57,369,777 (GRCm39) missense probably benign 0.00
IGL02642:Fhip2a APN 19 57,373,782 (GRCm39) missense possibly damaging 0.55
IGL03152:Fhip2a APN 19 57,367,264 (GRCm39) missense probably damaging 0.99
fredericksburg UTSW 19 57,372,555 (GRCm39) nonsense probably null
williamsburg UTSW 19 57,372,697 (GRCm39) critical splice donor site probably null
R0001:Fhip2a UTSW 19 57,370,188 (GRCm39) missense probably benign 0.01
R0123:Fhip2a UTSW 19 57,369,839 (GRCm39) missense probably benign 0.00
R0368:Fhip2a UTSW 19 57,357,010 (GRCm39) missense possibly damaging 0.91
R0446:Fhip2a UTSW 19 57,369,839 (GRCm39) missense probably benign 0.00
R0508:Fhip2a UTSW 19 57,367,174 (GRCm39) missense probably benign 0.04
R0926:Fhip2a UTSW 19 57,369,522 (GRCm39) missense probably damaging 1.00
R1344:Fhip2a UTSW 19 57,359,594 (GRCm39) missense possibly damaging 0.72
R1398:Fhip2a UTSW 19 57,361,358 (GRCm39) splice site probably benign
R1418:Fhip2a UTSW 19 57,359,594 (GRCm39) missense possibly damaging 0.72
R1506:Fhip2a UTSW 19 57,357,007 (GRCm39) missense probably benign 0.30
R1530:Fhip2a UTSW 19 57,374,737 (GRCm39) missense probably damaging 0.99
R1695:Fhip2a UTSW 19 57,367,603 (GRCm39) missense probably damaging 1.00
R1868:Fhip2a UTSW 19 57,374,737 (GRCm39) missense possibly damaging 0.75
R1974:Fhip2a UTSW 19 57,373,809 (GRCm39) missense probably damaging 0.99
R2004:Fhip2a UTSW 19 57,370,324 (GRCm39) missense probably benign
R2893:Fhip2a UTSW 19 57,372,601 (GRCm39) missense probably benign 0.01
R3011:Fhip2a UTSW 19 57,373,720 (GRCm39) missense probably damaging 1.00
R3963:Fhip2a UTSW 19 57,361,442 (GRCm39) missense possibly damaging 0.77
R4416:Fhip2a UTSW 19 57,373,829 (GRCm39) splice site probably null
R4613:Fhip2a UTSW 19 57,359,619 (GRCm39) missense probably damaging 0.99
R4735:Fhip2a UTSW 19 57,359,661 (GRCm39) missense probably damaging 1.00
R4893:Fhip2a UTSW 19 57,370,188 (GRCm39) missense probably benign 0.01
R4937:Fhip2a UTSW 19 57,367,069 (GRCm39) missense probably benign
R5049:Fhip2a UTSW 19 57,374,737 (GRCm39) missense possibly damaging 0.75
R5050:Fhip2a UTSW 19 57,371,602 (GRCm39) missense probably damaging 1.00
R5080:Fhip2a UTSW 19 57,361,713 (GRCm39) missense probably damaging 1.00
R5176:Fhip2a UTSW 19 57,359,613 (GRCm39) missense probably damaging 0.98
R5317:Fhip2a UTSW 19 57,370,141 (GRCm39) splice site probably null
R5347:Fhip2a UTSW 19 57,367,051 (GRCm39) missense probably benign
R5497:Fhip2a UTSW 19 57,369,583 (GRCm39) splice site probably null
R5969:Fhip2a UTSW 19 57,372,555 (GRCm39) nonsense probably null
R6418:Fhip2a UTSW 19 57,370,166 (GRCm39) missense probably benign 0.18
R6426:Fhip2a UTSW 19 57,371,610 (GRCm39) missense probably damaging 1.00
R6765:Fhip2a UTSW 19 57,367,177 (GRCm39) missense probably benign
R7472:Fhip2a UTSW 19 57,357,017 (GRCm39) missense probably damaging 1.00
R7583:Fhip2a UTSW 19 57,367,034 (GRCm39) missense probably benign 0.01
R7672:Fhip2a UTSW 19 57,373,750 (GRCm39) missense possibly damaging 0.95
R8159:Fhip2a UTSW 19 57,372,697 (GRCm39) critical splice donor site probably null
R8510:Fhip2a UTSW 19 57,370,752 (GRCm39) missense probably benign 0.16
R9060:Fhip2a UTSW 19 57,361,450 (GRCm39) missense probably damaging 0.99
R9214:Fhip2a UTSW 19 57,373,756 (GRCm39) missense probably damaging 0.99
R9233:Fhip2a UTSW 19 57,369,098 (GRCm39) missense probably damaging 1.00
R9689:Fhip2a UTSW 19 57,369,710 (GRCm39) missense probably benign 0.01
X0023:Fhip2a UTSW 19 57,372,579 (GRCm39) nonsense probably null
X0062:Fhip2a UTSW 19 57,373,689 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTGACCAATGCCTCCAGCAGC -3'
(R):5'- GCGTGAAGTCCCAGAGTTAATCCC -3'

Sequencing Primer
(F):5'- GTTAGTGAAAAACGGTCATTTGCG -3'
(R):5'- GTCAGTGCTCTGAATGCAAATG -3'
Posted On 2014-01-05