Incidental Mutation 'IGL03172:Fhl5'
ID 411893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fhl5
Ensembl Gene ENSMUSG00000028259
Gene Name four and a half LIM domains 5
Synonyms 1700027G07Rik, ACT
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL03172
Quality Score
Status
Chromosome 4
Chromosomal Location 25199907-25242852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25211309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 128 (F128L)
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: F128L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029922
Gene: ENSMUSG00000028259
AA Change: F128L

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: F128L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103839
Gene: ENSMUSG00000028259
AA Change: F128L

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
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,839,003 (GRCm39) H528R probably damaging Het
A530053G22Rik A T 6: 60,379,047 (GRCm39) noncoding transcript Het
Aagab A G 9: 63,542,676 (GRCm39) probably benign Het
Aknad1 A T 3: 108,688,519 (GRCm39) I616F possibly damaging Het
Ap2a1 A C 7: 44,553,479 (GRCm39) D629E probably benign Het
Apc2 C A 10: 80,149,220 (GRCm39) Q1425K probably damaging Het
Asf1b A C 8: 84,694,542 (GRCm39) H102P probably benign Het
Celf6 C T 9: 59,489,565 (GRCm39) A90V probably damaging Het
Chrna2 A T 14: 66,379,688 (GRCm39) Q9L probably benign Het
Csnk1g3 A G 18: 54,086,356 (GRCm39) I420M possibly damaging Het
Eml3 T C 19: 8,916,543 (GRCm39) probably benign Het
Epn3 T C 11: 94,382,456 (GRCm39) N508S possibly damaging Het
Fam120a T C 13: 49,063,812 (GRCm39) Y608C probably damaging Het
Fbn1 A C 2: 125,162,888 (GRCm39) C2133G possibly damaging Het
Fn1 T C 1: 71,680,421 (GRCm39) N428S probably damaging Het
Fxr2 T C 11: 69,540,665 (GRCm39) probably null Het
Gabrp T C 11: 33,504,388 (GRCm39) Y309C probably damaging Het
Golga2 A G 2: 32,182,168 (GRCm39) I50V probably benign Het
Ifi203 C T 1: 173,764,158 (GRCm39) G105R possibly damaging Het
Itgav A T 2: 83,596,190 (GRCm39) Q201L possibly damaging Het
Jade2 T C 11: 51,716,198 (GRCm39) T336A probably damaging Het
Kdm4b A G 17: 56,708,649 (GRCm39) D996G probably damaging Het
Me2 A G 18: 73,903,797 (GRCm39) I557T probably benign Het
Memo1 A C 17: 74,551,996 (GRCm39) L100R probably damaging Het
Mrps2 A G 2: 28,359,818 (GRCm39) N225S probably damaging Het
Ndufa2 A G 18: 36,877,278 (GRCm39) probably null Het
Or2g7 G T 17: 38,378,275 (GRCm39) C71F probably damaging Het
Or7g19 G A 9: 18,856,757 (GRCm39) S271N probably benign Het
Pak5 G T 2: 135,940,310 (GRCm39) Y501* probably null Het
Pot1b A T 17: 56,002,206 (GRCm39) F123I possibly damaging Het
Rev3l T C 10: 39,700,786 (GRCm39) V1761A probably benign Het
Samd3 T A 10: 26,106,064 (GRCm39) V14E probably damaging Het
Slc4a8 G A 15: 100,697,598 (GRCm39) A605T probably benign Het
Smgc A T 15: 91,744,642 (GRCm39) D333V probably damaging Het
Spata4 A G 8: 55,055,440 (GRCm39) I147V probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r73 G A 7: 85,507,495 (GRCm39) H606Y probably benign Het
Vsig8 A G 1: 172,387,916 (GRCm39) N2S probably damaging Het
Wdr17 A C 8: 55,114,515 (GRCm39) I667R probably damaging Het
Yif1b A G 7: 28,937,873 (GRCm39) probably null Het
Zbtb5 A T 4: 44,994,003 (GRCm39) H460Q possibly damaging Het
Zdhhc21 G A 4: 82,724,564 (GRCm39) probably benign Het
Zfp944 A T 17: 22,559,018 (GRCm39) H76Q probably damaging Het
Zkscan1 A G 5: 138,092,264 (GRCm39) Q146R 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
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
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 2016-08-02