Incidental Mutation 'R4382:Fhl5'
ID 325360
Institutional Source Beutler Lab
Gene Symbol Fhl5
Ensembl Gene ENSMUSG00000028259
Gene Name four and a half LIM domains 5
Synonyms 1700027G07Rik, ACT
MMRRC Submission 041679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R4382 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 25199907-25242852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25200118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 239 (C239G)
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: C239G

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029922
Gene: ENSMUSG00000028259
AA Change: C239G

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: C239G

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103839
Gene: ENSMUSG00000028259
AA Change: C239G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T A 4: 144,281,596 (GRCm39) T399S possibly damaging Het
Acp2 T C 2: 91,038,454 (GRCm39) S309P possibly damaging Het
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
B4galnt4 T C 7: 140,650,449 (GRCm39) V772A probably damaging Het
Boc A T 16: 44,311,545 (GRCm39) L726H probably damaging Het
Calr3 T A 8: 73,182,008 (GRCm39) D120V probably damaging Het
Ccdc92b G A 11: 74,520,842 (GRCm39) S48N probably damaging Het
Ceacam12 C T 7: 17,799,959 (GRCm39) probably benign Het
Clca3a1 T A 3: 144,466,483 (GRCm39) M1L probably benign Het
Cnot1 T C 8: 96,496,407 (GRCm39) T300A probably damaging Het
Col12a1 A T 9: 79,538,023 (GRCm39) Y2514* probably null Het
Col6a6 G A 9: 105,660,889 (GRCm39) R407W probably damaging Het
Csnk1g1 T C 9: 65,927,190 (GRCm39) V119A probably damaging Het
Cspg4b T C 13: 113,459,288 (GRCm39) I1273T probably benign Het
Ddx60 G A 8: 62,402,012 (GRCm39) probably null Het
Dnajb12 A T 10: 59,733,321 (GRCm39) K372N probably benign Het
Gad2 G A 2: 22,575,422 (GRCm39) V509I probably benign Het
Glrb T A 3: 80,786,946 (GRCm39) R72S probably damaging Het
Gm6811 T C 17: 21,314,865 (GRCm39) noncoding transcript Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Hk2 A T 6: 82,712,322 (GRCm39) L542Q probably null Het
Iglc1 A T 16: 18,880,508 (GRCm39) C104* probably null Het
Kel T A 6: 41,675,334 (GRCm39) T306S probably benign Het
Lpo T C 11: 87,713,027 (GRCm39) D25G probably benign Het
Mboat7 T A 7: 3,691,545 (GRCm39) Y109F possibly damaging Het
Myh15 T G 16: 48,963,306 (GRCm39) N1082K probably benign Het
Nagk A G 6: 83,774,993 (GRCm39) E90G probably benign Het
Nagpa A T 16: 5,021,819 (GRCm39) F10I possibly damaging Het
Or9a4 T A 6: 40,548,998 (GRCm39) L226H probably damaging Het
Otog T A 7: 45,939,122 (GRCm39) C2051S probably damaging Het
Ptpn6 A G 6: 124,704,361 (GRCm39) V315A possibly damaging Het
Rbp3 G C 14: 33,677,253 (GRCm39) E400D probably benign Het
Rnf41 T C 10: 128,272,392 (GRCm39) S140P probably benign Het
Ros1 C T 10: 51,997,055 (GRCm39) V1206I possibly damaging Het
Scgb2b12 T A 7: 32,024,870 (GRCm39) E112D probably benign Het
Serpinb3b T A 1: 107,083,273 (GRCm39) M210L probably damaging Het
Sipa1l1 A G 12: 82,493,596 (GRCm39) R1672G possibly damaging Het
Smc5 A G 19: 23,246,210 (GRCm39) S70P probably benign Het
Spen C T 4: 141,200,450 (GRCm39) G2703S possibly damaging Het
Stard9 C G 2: 120,464,703 (GRCm39) A56G probably damaging Het
Wtap A G 17: 13,194,307 (GRCm39) S87P probably damaging Het
Zzef1 T G 11: 72,765,938 (GRCm39) S1488R 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
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'- TTCCAGATTTAGTGAGAGCAAGGG -3'
(R):5'- ATCTTGTGTGGCTGAAATGCTC -3'

Sequencing Primer
(F):5'- GCAAAGCAGATTTCAGATGGTG -3'
(R):5'- CTCTGTTGAGCATGAGGCCAG -3'
Posted On 2015-07-06