Incidental Mutation 'R9312:Fgf11'
ID 705663
Institutional Source Beutler Lab
Gene Symbol Fgf11
Ensembl Gene ENSMUSG00000042826
Gene Name fibroblast growth factor 11
Synonyms Fhf3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.590) question?
Stock # R9312 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69686894-69692683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69689412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 195 (H195Q)
Ref Sequence ENSEMBL: ENSMUSP00000099645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011285] [ENSMUST00000045971] [ENSMUST00000102585]
AlphaFold P70378
Predicted Effect probably damaging
Transcript: ENSMUST00000011285
AA Change: H167Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000011285
Gene: ENSMUSG00000042826
AA Change: H167Q

DomainStartEndE-ValueType
FGF 69 172 6.95e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000045971
SMART Domains Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:Neur_chan_LBD 27 245 3.6e-65 PFAM
Pfam:Neur_chan_memb 252 487 3.5e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102585
AA Change: H195Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099645
Gene: ENSMUSG00000042826
AA Change: H195Q

DomainStartEndE-ValueType
FGF 69 200 3.43e-66 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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 a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 A G 7: 139,565,791 (GRCm39) L607P probably damaging Het
Adamts16 T A 13: 70,949,045 (GRCm39) R205S probably damaging Het
Adgra3 T C 5: 50,117,900 (GRCm39) Y1216C probably damaging Het
Arl3 A G 19: 46,531,964 (GRCm39) V91A probably damaging Het
Bckdhb A T 9: 83,870,833 (GRCm39) K114N probably benign Het
Cabin1 A T 10: 75,561,569 (GRCm39) D150E probably benign Het
Cadps G A 14: 12,616,095 (GRCm38) R312C probably damaging Het
Cep120 A G 18: 53,860,713 (GRCm39) I239T probably benign Het
Clec4g T A 8: 3,768,371 (GRCm39) E120V probably null Het
Col18a1 T C 10: 76,894,606 (GRCm39) E1022G probably damaging Het
Cyfip2 A G 11: 46,167,709 (GRCm39) I231T possibly damaging Het
Dcaf17 T C 2: 70,908,458 (GRCm39) Y228H probably benign Het
Ddx41 T A 13: 55,683,842 (GRCm39) Q52L probably benign Het
Dync2h1 T C 9: 7,050,413 (GRCm39) Y3212C probably damaging Het
Etv4 A G 11: 101,664,923 (GRCm39) Y177H probably benign Het
Fer1l5 A G 1: 36,460,248 (GRCm39) E1910G probably damaging Het
Gatb A G 3: 85,561,070 (GRCm39) K529E probably damaging Het
Gfus T C 15: 75,797,169 (GRCm39) Y292C possibly damaging Het
Gsdmc C A 15: 63,649,806 (GRCm39) A362S probably damaging Het
Gucy1b1 A T 3: 81,942,123 (GRCm39) N545K probably damaging Het
Heatr1 A G 13: 12,446,565 (GRCm39) H1638R probably benign Het
Hecw1 T G 13: 14,546,567 (GRCm39) I145L probably damaging Het
Hmmr A G 11: 40,614,316 (GRCm39) V124A possibly damaging Het
Il31ra C T 13: 112,686,023 (GRCm39) V89I probably benign Het
Kcnmb3 A T 3: 32,536,575 (GRCm39) M51K probably benign Het
Lamb1 C T 12: 31,368,352 (GRCm39) R1209C probably damaging Het
Lcn6 G T 2: 25,570,074 (GRCm39) G80V probably benign Het
Lgsn A G 1: 31,243,280 (GRCm39) E454G probably benign Het
Loxhd1 G A 18: 77,498,285 (GRCm39) M1624I probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mapk8ip3 T C 17: 25,146,925 (GRCm39) probably null Het
Mlip A G 9: 77,147,060 (GRCm39) Y26H probably damaging Het
Nipsnap1 A C 11: 4,839,902 (GRCm39) I208L possibly damaging Het
Nusap1 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 2: 119,458,119 (GRCm39) probably benign Het
Or5m11 T A 2: 85,781,509 (GRCm39) V34D possibly damaging Het
Pigr C T 1: 130,762,185 (GRCm39) T7M probably benign Het
Pigu T C 2: 155,199,315 (GRCm39) M1V probably null Het
Pkd1 T A 17: 24,797,364 (GRCm39) I2568N probably damaging Het
Psmd4 A T 3: 94,940,729 (GRCm39) S345T probably benign Het
Rab3gap2 A T 1: 185,015,684 (GRCm39) M1321L probably benign Het
Rnf157 A G 11: 116,240,158 (GRCm39) probably null Het
Sart3 C T 5: 113,900,935 (GRCm39) E168K possibly damaging Het
Scnn1g A G 7: 121,339,818 (GRCm39) K206E probably benign Het
Smg6 A C 11: 74,820,877 (GRCm39) S383R probably benign Het
Smurf1 G T 5: 144,830,893 (GRCm39) P294H probably damaging Het
Sspo A T 6: 48,445,396 (GRCm39) H2279L probably benign Het
Tacc2 A T 7: 130,223,978 (GRCm39) D221V probably benign Het
Tgm6 T A 2: 129,977,701 (GRCm39) H13Q probably benign Het
Tnfaip8l2 T C 3: 95,047,767 (GRCm39) D32G probably damaging Het
Tppp A G 13: 74,179,377 (GRCm39) D167G probably damaging Het
Trak1 A G 9: 121,280,757 (GRCm39) E382G probably benign Het
Trdv2-1 C T 14: 54,183,570 (GRCm39) T14I probably benign Het
Ubr3 A T 2: 69,784,677 (GRCm39) D799V probably damaging Het
Usp28 T A 9: 48,926,439 (GRCm39) Y317* probably null Het
Vmn1r225 C T 17: 20,722,960 (GRCm39) L134F probably benign Het
Vmn2r86 A G 10: 130,288,406 (GRCm39) I365T probably benign Het
Wfikkn2 A G 11: 94,129,497 (GRCm39) S215P probably damaging Het
Xrcc2 A G 5: 25,897,124 (GRCm39) V275A probably damaging Het
Zfp423 T A 8: 88,508,569 (GRCm39) I592F probably damaging Het
Other mutations in Fgf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02867:Fgf11 APN 11 69,690,498 (GRCm39) missense possibly damaging 0.94
R0843:Fgf11 UTSW 11 69,689,602 (GRCm39) splice site probably benign
R1899:Fgf11 UTSW 11 69,692,279 (GRCm39) missense probably benign 0.03
R1900:Fgf11 UTSW 11 69,692,279 (GRCm39) missense probably benign 0.03
R3619:Fgf11 UTSW 11 69,690,234 (GRCm39) missense probably benign 0.00
R4995:Fgf11 UTSW 11 69,689,585 (GRCm39) missense probably damaging 1.00
R5466:Fgf11 UTSW 11 69,690,267 (GRCm39) missense probably damaging 0.97
R6589:Fgf11 UTSW 11 69,690,261 (GRCm39) missense probably damaging 1.00
X0018:Fgf11 UTSW 11 69,692,421 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTCTTACACTCACCCTTAGAGAAC -3'
(R):5'- AGCCACATTTCACAGCAGAG -3'

Sequencing Primer
(F):5'- GAAGAGAGCTTCCTAACCCC -3'
(R):5'- ATTTCACAGCAGAGTGTCGC -3'
Posted On 2022-03-25