Incidental Mutation 'R0563:Fhl5'
ID 45999
Institutional Source Beutler Lab
Gene Symbol Fhl5
Ensembl Gene ENSMUSG00000028259
Gene Name four and a half LIM domains 5
Synonyms 1700027G07Rik, ACT
MMRRC Submission 038754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R0563 (G1)
Quality Score 193
Status Validated
Chromosome 4
Chromosomal Location 25199907-25242852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 25213610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 109 (I109L)
Ref Sequence ENSEMBL: ENSMUSP00000103839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029922] [ENSMUST00000108204]
AlphaFold Q9WTX7
Predicted Effect probably damaging
Transcript: ENSMUST00000029922
AA Change: I109L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029922
Gene: ENSMUSG00000028259
AA Change: I109L

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 damaging
Transcript: ENSMUST00000108204
AA Change: I109L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103839
Gene: ENSMUSG00000028259
AA Change: I109L

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 0.1746 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 98% (52/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,635 (GRCm39) P146T probably damaging Het
Ambn A C 5: 88,611,309 (GRCm39) N163T probably benign Het
Ankrd36 A T 11: 5,579,322 (GRCm39) E870D probably benign Het
Cdc123 T C 2: 5,803,212 (GRCm39) N269S probably benign Het
Cdc7 A T 5: 107,120,776 (GRCm39) probably benign Het
Cdh2 A T 18: 16,762,738 (GRCm39) V402D possibly damaging Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Dcdc5 G A 2: 106,180,035 (GRCm39) noncoding transcript Het
Eif4g3 T C 4: 137,903,151 (GRCm39) probably benign Het
Elovl4 C T 9: 83,667,087 (GRCm39) probably null Het
Gm16181 A G 17: 35,442,872 (GRCm39) probably benign Het
Gna14 A G 19: 16,585,483 (GRCm39) Y287C probably benign Het
Greb1 A T 12: 16,730,268 (GRCm39) C1720S probably benign Het
Gypa T A 8: 81,236,089 (GRCm39) S165T probably benign Het
Hephl1 T C 9: 14,993,241 (GRCm39) D531G probably damaging Het
Hsf2bp A T 17: 32,226,692 (GRCm39) L221Q probably damaging Het
Itsn1 A G 16: 91,617,684 (GRCm39) probably benign Het
Kif7 T C 7: 79,352,020 (GRCm39) E914G probably benign Het
Lrp1b T C 2: 40,640,926 (GRCm39) D3506G probably benign Het
Lrrc28 T C 7: 67,195,135 (GRCm39) N225S probably damaging Het
Lysmd4 T A 7: 66,875,925 (GRCm39) L196Q probably benign Het
Megf8 T C 7: 25,041,820 (GRCm39) C1245R probably damaging Het
Mgat4f A G 1: 134,317,777 (GRCm39) K183R probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mindy2 T A 9: 70,538,334 (GRCm39) I334L possibly damaging Het
Mrm1 A G 11: 84,705,539 (GRCm39) S287P probably damaging Het
Ncor1 A G 11: 62,234,056 (GRCm39) I382T probably damaging Het
Nectin1 A G 9: 43,702,342 (GRCm39) T30A probably benign Het
Nelfe A G 17: 35,073,215 (GRCm39) E250G possibly damaging Het
Nsd1 C A 13: 55,394,391 (GRCm39) T767K possibly damaging Het
Or1i2 G A 10: 78,448,467 (GRCm39) P3S probably benign Het
Or1j18 A T 2: 36,625,013 (GRCm39) K227* probably null Het
Or4e5 T A 14: 52,727,714 (GRCm39) K236* probably null Het
Or5b111 A G 19: 13,291,112 (GRCm39) I179T probably benign Het
Pcnx1 A G 12: 81,964,718 (GRCm39) D295G probably damaging Het
Pex14 A G 4: 149,046,003 (GRCm39) V309A possibly damaging Het
Phf14 C T 6: 11,933,600 (GRCm39) probably benign Het
Pnpla6 A G 8: 3,573,333 (GRCm39) D399G possibly damaging Het
Prim1 A G 10: 127,862,423 (GRCm39) D340G probably damaging Het
Rb1 A G 14: 73,454,207 (GRCm39) F564L probably damaging Het
Rcc1l G C 5: 134,205,394 (GRCm39) R54G probably benign Het
Rnf151 G A 17: 24,936,430 (GRCm39) probably benign Het
Rnf40 T C 7: 127,192,048 (GRCm39) L398P probably damaging Het
Robo1 C T 16: 72,769,174 (GRCm39) T531I probably benign Het
Rps6ka2 A T 17: 7,521,836 (GRCm39) I198F probably damaging Het
Sgk2 T C 2: 162,846,164 (GRCm39) L264P probably damaging Het
Slc26a6 T A 9: 108,734,869 (GRCm39) I281N probably damaging Het
Tnxb A T 17: 34,935,921 (GRCm39) K2657N probably benign Het
Tor1aip1 G A 1: 155,911,554 (GRCm39) T143M probably damaging Het
Tpr A G 1: 150,284,609 (GRCm39) D358G probably benign Het
Vstm2b T C 7: 40,551,899 (GRCm39) S76P probably damaging Het
Wdr33 A G 18: 32,019,792 (GRCm39) K488R possibly damaging Het
Ythdc2 T A 18: 44,997,915 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- ACCACTGATTATGCCCAAGGCAGG -3'
(R):5'- GCACTAGGTTCCCAAGAATGTCCC -3'

Sequencing Primer
(F):5'- AGTTCTGTCTCTGGCTCAACAAG -3'
(R):5'- GTCCCATCTTGTCTTAGAAAACAGC -3'
Posted On 2013-06-11