Incidental Mutation 'R4512:Fhl4'
ID 331276
Institutional Source Beutler Lab
Gene Symbol Fhl4
Ensembl Gene ENSMUSG00000050035
Gene Name four and a half LIM domains 4
Synonyms
MMRRC Submission 041587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R4512 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 84932883-84938359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84934578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 68 (S68P)
Ref Sequence ENSEMBL: ENSMUSP00000150570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059383] [ENSMUST00000095383] [ENSMUST00000216771] [ENSMUST00000216889]
AlphaFold Q8CDC8
Predicted Effect possibly damaging
Transcript: ENSMUST00000059383
AA Change: S68P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050054
Gene: ENSMUSG00000050035
AA Change: S68P

DomainStartEndE-ValueType
LIM 38 91 1.69e-12 SMART
LIM 99 152 1.1e-11 SMART
LIM 160 211 2e-14 SMART
LIM 219 275 9.31e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095383
SMART Domains Protein: ENSMUSP00000093030
Gene: ENSMUSG00000060935

DomainStartEndE-ValueType
Pfam:UPF0444 24 114 1.7e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216771
Predicted Effect possibly damaging
Transcript: ENSMUST00000216889
AA Change: S68P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,978,573 (GRCm39) D573V probably damaging Het
Adgrg5 T C 8: 95,660,652 (GRCm39) V93A possibly damaging Het
Akr1c20 A C 13: 4,557,843 (GRCm39) V201G probably damaging Het
Alpk1 T C 3: 127,478,120 (GRCm39) probably benign Het
Aopep A T 13: 63,304,481 (GRCm39) T497S probably damaging Het
Atp6v1h T C 1: 5,168,358 (GRCm39) probably null Het
Aup1 C T 6: 83,033,368 (GRCm39) R248* probably null Het
BC016579 C A 16: 45,453,363 (GRCm39) A151S possibly damaging Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Chsy3 A G 18: 59,543,259 (GRCm39) D799G probably damaging Het
Dnah6 G A 6: 73,155,399 (GRCm39) R739W probably damaging Het
Dync2h1 A T 9: 7,085,009 (GRCm39) C553* probably null Het
Gcc1 T C 6: 28,419,208 (GRCm39) E375G probably benign Het
Gm10110 A G 14: 90,135,151 (GRCm39) noncoding transcript Het
Hspbap1 C T 16: 35,607,611 (GRCm39) S39F probably damaging Het
Lmln G A 16: 32,908,507 (GRCm39) R311Q probably benign Het
Ly6e T A 15: 74,829,682 (GRCm39) V24D probably damaging Het
Magi3 T C 3: 103,996,871 (GRCm39) T225A probably damaging Het
Mark1 C A 1: 184,639,286 (GRCm39) R577L probably benign Het
Mlxip G T 5: 123,533,128 (GRCm39) V46L probably benign Het
Mrpl40 T C 16: 18,691,308 (GRCm39) D134G probably benign Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nalcn T C 14: 123,532,860 (GRCm39) Y1300C probably damaging Het
Nav3 T C 10: 109,529,943 (GRCm39) I2133V possibly damaging Het
Ndst3 T C 3: 123,465,315 (GRCm39) D219G probably damaging Het
Nfkbie C T 17: 45,867,165 (GRCm39) S100L probably benign Het
Oard1 A G 17: 48,723,788 (GRCm39) I145V probably benign Het
Odf2 C T 2: 29,816,109 (GRCm39) probably null Het
Oplah A G 15: 76,182,155 (GRCm39) L1035P probably damaging Het
Or4n4b C A 14: 50,536,453 (GRCm39) L104F probably damaging Het
Or51t4 T C 7: 102,597,945 (GRCm39) L81P probably damaging Het
Or5m3b T C 2: 85,871,913 (GRCm39) S85P probably damaging Het
Otud7a T C 7: 63,379,625 (GRCm39) F284L probably benign Het
Parg T C 14: 31,984,693 (GRCm39) V241A probably damaging Het
Pla2g4a T A 1: 149,736,802 (GRCm39) probably null Het
Psd4 C T 2: 24,292,901 (GRCm39) R684C probably damaging Het
Pttg1ip T C 10: 77,432,902 (GRCm39) probably benign Het
R3hcc1 A G 14: 69,936,060 (GRCm39) S250P probably damaging Het
Rere T A 4: 150,561,909 (GRCm39) Y272N unknown Het
Selplg A G 5: 113,957,124 (GRCm39) V394A probably benign Het
Senp7 T G 16: 55,986,246 (GRCm39) F559V probably damaging Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Smim3 A T 18: 60,608,556 (GRCm39) V32D probably damaging Het
Spsb3 A G 17: 25,109,270 (GRCm39) D47G probably damaging Het
St6gal2 A T 17: 55,790,018 (GRCm39) N351Y probably benign Het
Stk11 T C 10: 79,962,211 (GRCm39) probably benign Het
Susd1 A T 4: 59,329,491 (GRCm39) L646Q possibly damaging Het
Tmprss11a A G 5: 86,576,437 (GRCm39) V138A probably benign Het
Ttn C A 2: 76,728,969 (GRCm39) probably benign Het
Ttn T C 2: 76,580,814 (GRCm39) K15033E probably damaging Het
Tyrp1 G T 4: 80,755,749 (GRCm39) D173Y probably damaging Het
Uncx A G 5: 139,532,522 (GRCm39) I196V possibly damaging Het
Vamp4 A T 1: 162,405,457 (GRCm39) D28V possibly damaging Het
Vmn2r78 C T 7: 86,569,452 (GRCm39) S115F probably benign Het
Zeb1 G A 18: 5,759,007 (GRCm39) C138Y probably damaging Het
Zfp985 G A 4: 147,668,020 (GRCm39) C296Y probably damaging Het
Other mutations in Fhl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Fhl4 APN 10 84,934,734 (GRCm39) missense probably damaging 1.00
IGL02623:Fhl4 APN 10 84,934,035 (GRCm39) missense probably damaging 1.00
PIT4382001:Fhl4 UTSW 10 84,934,293 (GRCm39) missense possibly damaging 0.95
R0412:Fhl4 UTSW 10 84,934,680 (GRCm39) missense possibly damaging 0.75
R0514:Fhl4 UTSW 10 84,934,250 (GRCm39) missense probably damaging 1.00
R1953:Fhl4 UTSW 10 84,934,171 (GRCm39) missense probably benign 0.00
R2567:Fhl4 UTSW 10 84,934,644 (GRCm39) missense possibly damaging 0.91
R3434:Fhl4 UTSW 10 84,934,308 (GRCm39) missense probably benign 0.00
R4489:Fhl4 UTSW 10 84,934,319 (GRCm39) missense possibly damaging 0.76
R6588:Fhl4 UTSW 10 84,933,971 (GRCm39) missense possibly damaging 0.50
R7699:Fhl4 UTSW 10 84,934,379 (GRCm39) missense probably benign 0.09
R7699:Fhl4 UTSW 10 84,934,113 (GRCm39) missense probably damaging 0.96
R8197:Fhl4 UTSW 10 84,934,101 (GRCm39) missense probably damaging 1.00
R8371:Fhl4 UTSW 10 84,934,637 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- CAATGATGTCCTTGCAGTTGG -3'
(R):5'- GAGTTCAAATGCCACCATTGC -3'

Sequencing Primer
(F):5'- GCAGACAAAGCAGTTTTTATGCCAG -3'
(R):5'- ACCATTGCGAGGAATCCTTG -3'
Posted On 2015-07-21