Incidental Mutation 'R7975:Fhl5'
ID 650829
Institutional Source Beutler Lab
Gene Symbol Fhl5
Ensembl Gene ENSMUSG00000028259
Gene Name four and a half LIM domains 5
Synonyms 1700027G07Rik, ACT
MMRRC Submission 046018-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R7975 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 25199907-25242852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25214730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 16 (I16F)
Ref Sequence ENSEMBL: ENSMUSP00000029922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029922] [ENSMUST00000108204]
AlphaFold Q9WTX7
Predicted Effect probably benign
Transcript: ENSMUST00000029922
AA Change: I16F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029922
Gene: ENSMUSG00000028259
AA Change: I16F

DomainStartEndE-ValueType
LIM 40 93 1.91e-11 SMART
LIM 101 154 4.59e-14 SMART
LIM 162 213 3.7e-9 SMART
LIM 221 276 7.68e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108204
AA Change: I16F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103839
Gene: ENSMUSG00000028259
AA Change: I16F

DomainStartEndE-ValueType
LIM 40 93 1.91e-11 SMART
LIM 101 154 4.59e-14 SMART
LIM 162 213 3.7e-9 SMART
LIM 221 276 7.68e-16 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Polymorphisms in this gene may be associated with susceptibility for migraine headaches. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Apr 2016]
PHENOTYPE: Male mice homozygous for disruptions of this gene have reduced sperm counts and abnormal sperm but are none the less fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 T C 10: 88,952,847 (GRCm39) I60V possibly damaging Het
Ano5 T A 7: 51,216,286 (GRCm39) M381K probably null Het
Aox1 T A 1: 58,348,187 (GRCm39) I635K probably benign Het
Bdp1 C T 13: 100,156,884 (GRCm39) C2436Y probably benign Het
Bod1l T C 5: 41,973,620 (GRCm39) R2565G possibly damaging Het
Brd2 A T 17: 34,334,424 (GRCm39) I245N probably damaging Het
Capn9 G A 8: 125,325,515 (GRCm39) V258M probably damaging Het
Ccar2 C G 14: 70,380,918 (GRCm39) C324S possibly damaging Het
Cd209b A T 8: 3,975,948 (GRCm39) I71N probably benign Het
Cdk12 A T 11: 98,111,928 (GRCm39) I729F unknown Het
Celf1 T G 2: 90,831,423 (GRCm39) V84G probably damaging Het
Cgn G T 3: 94,671,836 (GRCm39) A965E probably benign Het
Cgnl1 T C 9: 71,632,604 (GRCm39) E249G probably benign Het
Cspg4b A G 13: 113,455,841 (GRCm39) H629R Het
Cyp2j8 T C 4: 96,358,776 (GRCm39) N381S possibly damaging Het
Dmtf1 T C 5: 9,179,169 (GRCm39) D343G probably damaging Het
Gatd1 A G 7: 140,989,781 (GRCm39) F143S probably damaging Het
Gbp10 C T 5: 105,368,967 (GRCm39) G291R probably benign Het
Gm28168 T C 1: 117,875,820 (GRCm39) Y150H probably benign Het
Gm3543 T C 14: 41,802,122 (GRCm39) M121V probably benign Het
Gramd2b A G 18: 56,618,451 (GRCm39) T220A probably benign Het
Gstcd A G 3: 132,777,863 (GRCm39) L316P probably damaging Het
Hspg2 G A 4: 137,282,532 (GRCm39) G3424D probably benign Het
Ifi209 C T 1: 173,468,722 (GRCm39) S184F probably benign Het
Ino80 A T 2: 119,286,948 (GRCm39) probably null Het
Kcnd3 G A 3: 105,366,310 (GRCm39) R60H probably damaging Het
Kif21b T C 1: 136,098,911 (GRCm39) C1400R probably damaging Het
Lama3 C T 18: 12,670,796 (GRCm39) P794L probably damaging Het
Lgals4 A G 7: 28,540,346 (GRCm39) I214V probably benign Het
Lipo4 A T 19: 33,490,028 (GRCm39) L158Q probably damaging Het
Ltv1 A G 10: 13,066,453 (GRCm39) Y58H probably damaging Het
Mitf T C 6: 97,994,990 (GRCm39) S479P probably benign Het
Mthfr A T 4: 148,127,920 (GRCm39) D132V probably damaging Het
Mtrr T C 13: 68,727,666 (GRCm39) probably null Het
Neb T A 2: 52,050,678 (GRCm39) H6660L probably benign Het
Nhlrc3 A T 3: 53,360,966 (GRCm39) V263E probably damaging Het
Oas1h G A 5: 121,009,890 (GRCm39) V322M probably damaging Het
Or10a3n A T 7: 108,493,019 (GRCm39) Y203* probably null Het
Or2m13 T A 16: 19,226,301 (GRCm39) D155V probably damaging Het
Or4a15 C T 2: 89,193,413 (GRCm39) R120H probably benign Het
Pappa A T 4: 65,212,705 (GRCm39) D1121V probably damaging Het
Pax5 A G 4: 44,537,465 (GRCm39) S352P probably damaging Het
Piezo1 C A 8: 123,222,504 (GRCm39) R915L Het
R3hcc1 T C 14: 69,944,593 (GRCm39) D7G probably damaging Het
Rasgrp2 A G 19: 6,458,589 (GRCm39) K429E probably damaging Het
Scn10a A G 9: 119,501,286 (GRCm39) F166S probably benign Het
Scn9a T G 2: 66,314,597 (GRCm39) N1707T probably damaging Het
Sec23ip T C 7: 128,364,201 (GRCm39) F493S probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slfn4 A T 11: 83,077,982 (GRCm39) I257F possibly damaging Het
Smarcal1 T A 1: 72,652,150 (GRCm39) D637E probably benign Het
Smpd3 A C 8: 106,982,254 (GRCm39) C617G probably benign Het
Sos2 A T 12: 69,639,814 (GRCm39) F990L probably benign Het
Spata31h1 C T 10: 82,119,823 (GRCm39) A4396T possibly damaging Het
Syne1 T C 10: 4,981,786 (GRCm39) T844A probably benign Het
Tph1 G A 7: 46,306,678 (GRCm39) R145C probably damaging Het
Ubap2l G A 3: 89,946,076 (GRCm39) probably null Het
Vmn2r50 T C 7: 9,771,272 (GRCm39) I810V probably benign Het
Vmn2r59 T C 7: 41,693,199 (GRCm39) D467G probably damaging Het
Zfp618 T A 4: 63,049,352 (GRCm39) N417K possibly damaging Het
Other mutations in Fhl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Fhl5 APN 4 25,207,181 (GRCm39) missense possibly damaging 0.95
IGL02194:Fhl5 APN 4 25,211,341 (GRCm39) missense probably benign 0.01
IGL03172:Fhl5 APN 4 25,211,309 (GRCm39) missense probably damaging 1.00
PIT4466001:Fhl5 UTSW 4 25,211,194 (GRCm39) missense probably damaging 1.00
PIT4472001:Fhl5 UTSW 4 25,211,194 (GRCm39) missense probably damaging 1.00
R0020:Fhl5 UTSW 4 25,200,054 (GRCm39) missense probably benign 0.15
R0020:Fhl5 UTSW 4 25,200,054 (GRCm39) missense probably benign 0.15
R0256:Fhl5 UTSW 4 25,213,624 (GRCm39) missense probably benign
R0304:Fhl5 UTSW 4 25,207,241 (GRCm39) missense probably benign 0.01
R0480:Fhl5 UTSW 4 25,207,101 (GRCm39) nonsense probably null
R0563:Fhl5 UTSW 4 25,213,610 (GRCm39) missense probably damaging 0.96
R3418:Fhl5 UTSW 4 25,211,252 (GRCm39) missense probably benign
R3926:Fhl5 UTSW 4 25,214,790 (GRCm39) splice site probably benign
R4382:Fhl5 UTSW 4 25,200,118 (GRCm39) missense probably benign 0.16
R5930:Fhl5 UTSW 4 25,214,756 (GRCm39) missense probably benign 0.04
R6135:Fhl5 UTSW 4 25,214,716 (GRCm39) nonsense probably null
R6927:Fhl5 UTSW 4 25,213,681 (GRCm39) missense probably benign 0.14
R7147:Fhl5 UTSW 4 25,213,777 (GRCm39) critical splice acceptor site probably null
R8213:Fhl5 UTSW 4 25,207,113 (GRCm39) nonsense probably null
R9609:Fhl5 UTSW 4 25,214,653 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAGCATCCTGAAGCAATGACC -3'
(R):5'- GGTAGCCTTTTCTAAATCACCATGAC -3'

Sequencing Primer
(F):5'- AGCAATGACCTACTATATATGAGCAG -3'
(R):5'- GACACTATGTAATGTACAAAGTCT -3'
Posted On 2020-09-15