Incidental Mutation 'R6135:Fhl5'
ID 488283
Institutional Source Beutler Lab
Gene Symbol Fhl5
Ensembl Gene ENSMUSG00000028259
Gene Name four and a half LIM domains 5
Synonyms 1700027G07Rik, ACT
MMRRC Submission 044282-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6135 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 25199907-25242852 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 25214716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 20 (Y20*)
Ref Sequence ENSEMBL: ENSMUSP00000103839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029922] [ENSMUST00000108204]
AlphaFold Q9WTX7
Predicted Effect probably null
Transcript: ENSMUST00000029922
AA Change: Y20*
SMART Domains Protein: ENSMUSP00000029922
Gene: ENSMUSG00000028259
AA Change: Y20*

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 null
Transcript: ENSMUST00000108204
AA Change: Y20*
SMART Domains Protein: ENSMUSP00000103839
Gene: ENSMUSG00000028259
AA Change: Y20*

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 0.9712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 100% (55/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,402,335 (GRCm39) E95G probably damaging Het
Abca4 C T 3: 121,932,096 (GRCm39) T250I possibly damaging Het
Ahi1 G A 10: 20,845,020 (GRCm39) R375H probably benign Het
Aimp1 T C 3: 132,377,844 (GRCm39) K174E probably benign Het
Aire A G 10: 77,878,801 (GRCm39) L82P probably damaging Het
Akap13 T A 7: 75,259,656 (GRCm39) V760D possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Carf C T 1: 60,187,122 (GRCm39) S540F probably damaging Het
Ccdc171 T A 4: 83,473,087 (GRCm39) M172K probably benign Het
Chpt1 A T 10: 88,318,145 (GRCm39) V199E possibly damaging Het
Cldn16 G A 16: 26,293,018 (GRCm39) D65N possibly damaging Het
Cnga3 G A 1: 37,271,318 (GRCm39) probably benign Het
Col14a1 A G 15: 55,244,246 (GRCm39) T440A unknown Het
Creb3l3 A G 10: 80,921,552 (GRCm39) I331T probably benign Het
Cul9 T C 17: 46,832,379 (GRCm39) T1410A probably benign Het
Dnm1 T A 2: 32,223,075 (GRCm39) probably null Het
Fignl1 T C 11: 11,752,557 (GRCm39) D166G probably benign Het
Ghr T C 15: 3,355,447 (GRCm39) I279V probably benign Het
Gm1979 T G 5: 26,205,298 (GRCm39) S180R probably damaging Het
Hydin T C 8: 111,189,292 (GRCm39) V1232A possibly damaging Het
Ifnar1 A G 16: 91,298,508 (GRCm39) probably null Het
Inpp5d A G 1: 87,548,119 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnh2 T A 5: 24,526,791 (GRCm39) S1002C probably damaging Het
Krt87 T A 15: 101,385,415 (GRCm39) E319V probably damaging Het
Lbp A G 2: 158,159,469 (GRCm39) I201V probably benign Het
Man1a2 G A 3: 100,592,248 (GRCm39) probably benign Het
Myh8 A G 11: 67,188,326 (GRCm39) T996A possibly damaging Het
Nat10 A G 2: 103,573,661 (GRCm39) L319P probably damaging Het
Nelfa A G 5: 34,056,620 (GRCm39) probably null Het
Or5b97 A C 19: 12,878,803 (GRCm39) Y114D probably damaging Het
Pcdha11 T A 18: 37,138,870 (GRCm39) N166K probably damaging Het
Pcdha6 C A 18: 37,102,269 (GRCm39) N487K probably damaging Het
Pcsk2 A G 2: 143,415,460 (GRCm39) D91G possibly damaging Het
Pigp A G 16: 94,171,065 (GRCm39) F22L probably benign Het
Pnpla8 A C 12: 44,329,670 (GRCm39) N74T probably benign Het
Ppargc1b T C 18: 61,448,980 (GRCm39) K114R probably damaging Het
Ppfia2 A G 10: 106,693,430 (GRCm39) D645G probably damaging Het
Rnf213 G A 11: 119,332,854 (GRCm39) V2688I probably benign Het
Rnf43 A G 11: 87,622,951 (GRCm39) H557R probably damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Rrp9 G A 9: 106,360,221 (GRCm39) D210N probably damaging Het
Scin G T 12: 40,129,807 (GRCm39) Q329K possibly damaging Het
Scn7a T A 2: 66,534,244 (GRCm39) H477L probably benign Het
Slc26a8 A T 17: 28,888,914 (GRCm39) M195K probably benign Het
Spata13 A G 14: 60,993,877 (GRCm39) K1110E probably damaging Het
Spata24 T A 18: 35,793,503 (GRCm39) E103V probably damaging Het
Srek1 T C 13: 103,910,894 (GRCm39) N25S probably damaging Het
Strada T C 11: 106,064,140 (GRCm39) Y59C probably damaging Het
Tnrc6c T C 11: 117,626,831 (GRCm39) W1143R probably damaging Het
Trip12 A T 1: 84,738,559 (GRCm39) D765E probably benign Het
Ttbk2 G A 2: 120,580,798 (GRCm39) R444C probably damaging Het
Ush2a T A 1: 188,644,303 (GRCm39) I4555N possibly damaging Het
Vcan C T 13: 89,838,045 (GRCm39) E2500K probably benign Het
Vps16 A G 2: 130,280,573 (GRCm39) Y200C possibly damaging Het
Wdfy4 T A 14: 32,693,668 (GRCm39) H2719L probably damaging Het
Zfhx2 T C 14: 55,311,653 (GRCm39) D347G possibly damaging Het
Zfp653 G A 9: 21,969,558 (GRCm39) T236I probably damaging Het
Zscan4-ps1 A T 7: 10,799,913 (GRCm39) H325Q 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
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
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
Predicted Primers PCR Primer
(F):5'- CCTTACACTGTAGAAAACGTGGG -3'
(R):5'- CAAGCAGCTCCCTAAATTTGTG -3'

Sequencing Primer
(F):5'- CACTGTAGAAAACGTGGGTAAAAGTC -3'
(R):5'- GACACTATGTAATGTACAAAGTC -3'
Posted On 2017-10-10