Incidental Mutation 'R0020:Fhl5'
ID 19039
Institutional Source Beutler Lab
Gene Symbol Fhl5
Ensembl Gene ENSMUSG00000028259
Gene Name four and a half LIM domains 5
Synonyms 1700027G07Rik, ACT
MMRRC Submission 038315-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R0020 (G1)
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 25199907-25242852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25200054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 260 (V260E)
Ref Sequence ENSEMBL: ENSMUSP00000103839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029922] [ENSMUST00000108204]
AlphaFold Q9WTX7
Predicted Effect probably benign
Transcript: ENSMUST00000029922
AA Change: V260E

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029922
Gene: ENSMUSG00000028259
AA Change: V260E

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: V260E

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103839
Gene: ENSMUSG00000028259
AA Change: V260E

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 noncoding transcript
Transcript: ENSMUST00000124792
Meta Mutation Damage Score 0.1382 question?
Coding Region Coverage
  • 1x: 82.6%
  • 3x: 76.6%
  • 10x: 60.3%
  • 20x: 42.3%
Validation Efficiency 92% (100/109)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg2 C T 5: 137,652,064 (GRCm39) V432M probably benign Het
Akap11 A T 14: 78,755,617 (GRCm39) I74K probably benign Het
Atf2 T C 2: 73,676,628 (GRCm39) D122G possibly damaging Het
Brd10 A T 19: 29,693,597 (GRCm39) D2032E probably damaging Het
Ccser1 C A 6: 61,290,788 (GRCm39) T490K possibly damaging Het
Cip2a A T 16: 48,821,975 (GRCm39) H201L probably damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cnga4 G T 7: 105,054,884 (GRCm39) R53L probably damaging Het
Col6a3 T A 1: 90,739,272 (GRCm39) I319F probably damaging Het
Cst11 T A 2: 148,613,253 (GRCm39) Y24F probably damaging Het
Cstb T A 10: 78,263,170 (GRCm39) V65E probably benign Het
Cyp2j11 G A 4: 96,195,641 (GRCm39) H352Y probably benign Het
Ezr G T 17: 7,010,126 (GRCm39) Q308K probably damaging Het
F3 A T 3: 121,525,265 (GRCm39) N169Y probably damaging Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcho1 C T 8: 72,169,514 (GRCm39) G131R probably benign Het
Kcna10 A T 3: 107,102,736 (GRCm39) I456F probably damaging Het
Loxl2 T C 14: 69,898,242 (GRCm39) V232A probably damaging Het
Megf10 G T 18: 57,420,965 (GRCm39) V868F possibly damaging Het
Megf9 A G 4: 70,406,386 (GRCm39) V260A probably benign Het
Nampt A T 12: 32,891,012 (GRCm39) S278C probably damaging Het
Nap1l1 A C 10: 111,326,884 (GRCm39) E148D probably benign Het
Pamr1 C T 2: 102,472,423 (GRCm39) T574I probably benign Het
Pde4d T A 13: 110,091,104 (GRCm39) C35S possibly damaging Het
Pkd1l1 A G 11: 8,825,765 (GRCm39) probably benign Het
Pkd2 A G 5: 104,651,382 (GRCm39) E910G probably damaging Het
Pkhd1l1 A G 15: 44,420,268 (GRCm39) Y3002C probably damaging Het
Ppp6r2 T A 15: 89,143,342 (GRCm39) M163K probably damaging Het
Prdm4 T C 10: 85,743,487 (GRCm39) N256S probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rimoc1 T C 15: 4,021,350 (GRCm39) probably benign Het
Scube2 A G 7: 109,430,095 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,918,076 (GRCm39) V600E possibly damaging Het
Sptbn5 T A 2: 119,896,112 (GRCm39) I779F probably damaging Het
Tamalin T C 15: 101,128,433 (GRCm39) V157A probably damaging Het
Uspl1 A G 5: 149,146,589 (GRCm39) T447A probably damaging Het
Zfp282 T G 6: 47,856,943 (GRCm39) W59G probably damaging Het
Zfp629 C G 7: 127,210,341 (GRCm39) E489D probably benign Het
Zfp746 C A 6: 48,041,641 (GRCm39) A362S probably benign 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
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
R7975:Fhl5 UTSW 4 25,214,730 (GRCm39) missense probably benign
R8213:Fhl5 UTSW 4 25,207,113 (GRCm39) nonsense probably null
R9609:Fhl5 UTSW 4 25,214,653 (GRCm39) nonsense probably null
Posted On 2013-03-25