Incidental Mutation 'R1950:Fer1l4'
ID 217177
Institutional Source Beutler Lab
Gene Symbol Fer1l4
Ensembl Gene ENSMUSG00000013338
Gene Name fer-1 like family member 4
Synonyms 9130402C12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1950 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 155861059-155894867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155890194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 244 (I244V)
Ref Sequence ENSEMBL: ENSMUSP00000105240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109611]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000109611
AA Change: I244V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338
AA Change: I244V

DomainStartEndE-ValueType
PDB:3L9B|A 1 122 1e-12 PDB
Blast:C2 2 96 2e-51 BLAST
low complexity region 159 172 N/A INTRINSIC
low complexity region 178 197 N/A INTRINSIC
C2 228 329 2.87e-7 SMART
FerI 312 383 7.93e-29 SMART
C2 391 501 3.64e-9 SMART
low complexity region 574 581 N/A INTRINSIC
low complexity region 611 622 N/A INTRINSIC
low complexity region 829 837 N/A INTRINSIC
low complexity region 844 855 N/A INTRINSIC
FerB 861 932 7.27e-37 SMART
C2 968 1076 3.73e-6 SMART
low complexity region 1249 1257 N/A INTRINSIC
low complexity region 1280 1310 N/A INTRINSIC
low complexity region 1327 1340 N/A INTRINSIC
low complexity region 1397 1407 N/A INTRINSIC
C2 1449 1548 5.65e-15 SMART
C2 1692 1822 4.22e-5 SMART
Pfam:Ferlin_C 1834 1987 1.6e-74 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,010,677 (GRCm39) N478S probably damaging Het
Als2 T A 1: 59,224,760 (GRCm39) probably null Het
Ankfy1 A G 11: 72,651,155 (GRCm39) Y1035C probably damaging Het
Ankrd11 T C 8: 123,616,608 (GRCm39) T2394A probably damaging Het
Axin1 G C 17: 26,412,938 (GRCm39) G780R possibly damaging Het
Carm1 A T 9: 21,485,812 (GRCm39) T127S probably benign Het
Ccdc73 T C 2: 104,757,280 (GRCm39) I81T probably benign Het
Cdh12 T C 15: 21,237,965 (GRCm39) Y67H probably damaging Het
Cfap65 C A 1: 74,946,819 (GRCm39) G1297V probably damaging Het
Cfap74 T C 4: 155,511,887 (GRCm39) probably null Het
Chit1 A G 1: 134,078,968 (GRCm39) Y426C probably damaging Het
Clpp A G 17: 57,303,039 (GRCm39) probably benign Het
Clrn3 T G 7: 135,115,813 (GRCm39) Y179S possibly damaging Het
Cntn5 A C 9: 9,781,774 (GRCm39) M635R probably damaging Het
Col12a1 A T 9: 79,537,831 (GRCm39) S2546T possibly damaging Het
Ctla2b T C 13: 61,043,863 (GRCm39) N102S possibly damaging Het
Cwf19l2 A T 9: 3,418,674 (GRCm39) I154F probably benign Het
Dffa C A 4: 149,188,839 (GRCm39) S44R probably benign Het
Ehbp1 T A 11: 22,009,228 (GRCm39) K930M probably damaging Het
Erc2 T A 14: 27,634,857 (GRCm39) S473T probably damaging Het
Fbxw24 A T 9: 109,434,481 (GRCm39) L373H probably benign Het
Fgfr2 G A 7: 129,800,211 (GRCm39) T245M probably damaging Het
Garin1b C T 6: 29,335,815 (GRCm39) probably null Het
Gbp9 T A 5: 105,229,112 (GRCm39) M512L probably benign Het
Glg1 T A 8: 111,892,271 (GRCm39) K251I possibly damaging Het
Gm10553 A G 1: 85,078,141 (GRCm39) D86G possibly damaging Het
Gm5622 T C 14: 51,893,229 (GRCm39) V52A probably benign Het
Gucy1b1 A G 3: 81,952,716 (GRCm39) V239A probably benign Het
Gzma A G 13: 113,230,463 (GRCm39) L246P probably damaging Het
Hibadh C A 6: 52,533,448 (GRCm39) A223S probably benign Het
Hydin C A 8: 111,336,619 (GRCm39) T5132N possibly damaging Het
Insrr A G 3: 87,721,820 (GRCm39) N1198S probably damaging Het
Ivl T C 3: 92,479,420 (GRCm39) E215G possibly damaging Het
Jmjd1c A G 10: 67,075,701 (GRCm39) D2037G possibly damaging Het
Kcna3 G A 3: 106,944,988 (GRCm39) C417Y probably damaging Het
Klra2 T C 6: 131,207,078 (GRCm39) N177S probably benign Het
Llgl2 T C 11: 115,741,892 (GRCm39) S645P probably damaging Het
Lrrc15 T C 16: 30,092,649 (GRCm39) E230G probably benign Het
Magel2 C A 7: 62,028,163 (GRCm39) Q356K possibly damaging Het
Mcm6 A G 1: 128,273,726 (GRCm39) V368A probably benign Het
Myh8 G A 11: 67,169,830 (GRCm39) V50M possibly damaging Het
Myrf A T 19: 10,195,554 (GRCm39) F419I possibly damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or10ak16 G A 4: 118,750,537 (GRCm39) V86M probably benign Het
Or52i2 A G 7: 102,319,684 (GRCm39) M186V probably benign Het
Otud4 G A 8: 80,372,961 (GRCm39) R93H probably damaging Het
Pank4 T A 4: 155,056,977 (GRCm39) M390K probably benign Het
Pecam1 A G 11: 106,576,029 (GRCm39) V401A probably damaging Het
Prdm6 C A 18: 53,669,796 (GRCm39) T138K possibly damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Prpf8 A G 11: 75,387,337 (GRCm39) E1206G possibly damaging Het
Prr30 A T 14: 101,435,377 (GRCm39) I395N probably benign Het
Rab27a G A 9: 72,982,751 (GRCm39) G19R probably damaging Het
Ramacl A G 13: 67,055,269 (GRCm39) probably benign Het
Rrp12 A G 19: 41,881,029 (GRCm39) V134A probably damaging Het
Scly A G 1: 91,233,116 (GRCm39) T76A probably benign Het
Scube3 T C 17: 28,383,274 (GRCm39) S439P possibly damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sipa1l1 T C 12: 82,388,233 (GRCm39) F153S probably damaging Het
Slc25a30 T G 14: 76,007,007 (GRCm39) K163T possibly damaging Het
Slc26a8 T A 17: 28,863,614 (GRCm39) D715V probably benign Het
Smr2 AT ATT 5: 88,256,683 (GRCm39) probably null Het
Smr2 C CT 5: 88,256,685 (GRCm39) probably null Het
Sp6 T G 11: 96,912,940 (GRCm39) S218A probably benign Het
Spata21 T C 4: 140,838,716 (GRCm39) V589A probably damaging Het
Sycp2 T C 2: 178,044,593 (GRCm39) I71V probably benign Het
Syne2 G T 12: 75,999,644 (GRCm39) G2347C probably benign Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Thbs4 A T 13: 92,906,079 (GRCm39) N387K probably damaging Het
Tmem184a T C 5: 139,793,381 (GRCm39) D216G probably damaging Het
Tprg1 T A 16: 25,136,098 (GRCm39) S30T possibly damaging Het
Trip12 A T 1: 84,738,522 (GRCm39) W778R probably damaging Het
Ttpa T C 4: 20,008,633 (GRCm39) L65P probably damaging Het
Ush2a A T 1: 188,487,382 (GRCm39) N3050I probably damaging Het
Xpot T C 10: 121,455,053 (GRCm39) I30V probably benign Het
Zfp944 A G 17: 22,558,681 (GRCm39) S189P probably benign Het
Zftraf1 A G 15: 76,543,417 (GRCm39) probably null Het
Other mutations in Fer1l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Fer1l4 APN 2 155,861,840 (GRCm39) nonsense probably null
IGL01025:Fer1l4 APN 2 155,894,105 (GRCm39) missense probably benign 0.41
IGL01103:Fer1l4 APN 2 155,886,361 (GRCm39) critical splice donor site probably null
IGL01322:Fer1l4 APN 2 155,862,259 (GRCm39) splice site probably null
IGL01391:Fer1l4 APN 2 155,878,376 (GRCm39) missense probably damaging 1.00
IGL02176:Fer1l4 APN 2 155,890,371 (GRCm39) missense probably benign
IGL02267:Fer1l4 APN 2 155,873,172 (GRCm39) missense possibly damaging 0.60
IGL02291:Fer1l4 APN 2 155,861,458 (GRCm39) missense probably damaging 1.00
IGL02385:Fer1l4 APN 2 155,887,348 (GRCm39) missense probably benign 0.04
IGL02423:Fer1l4 APN 2 155,894,827 (GRCm39) missense probably benign 0.04
IGL02596:Fer1l4 APN 2 155,881,052 (GRCm39) missense probably benign
IGL02612:Fer1l4 APN 2 155,889,848 (GRCm39) missense probably damaging 1.00
IGL02716:Fer1l4 APN 2 155,871,635 (GRCm39) missense probably damaging 1.00
IGL02738:Fer1l4 APN 2 155,887,648 (GRCm39) missense probably benign
IGL03035:Fer1l4 APN 2 155,864,526 (GRCm39) missense possibly damaging 0.95
IGL03083:Fer1l4 APN 2 155,881,286 (GRCm39) unclassified probably benign
IGL03201:Fer1l4 APN 2 155,886,650 (GRCm39) missense probably benign 0.32
IGL03349:Fer1l4 APN 2 155,886,654 (GRCm39) nonsense probably null
R0033:Fer1l4 UTSW 2 155,866,026 (GRCm39) splice site probably benign
R0356:Fer1l4 UTSW 2 155,865,930 (GRCm39) missense probably damaging 1.00
R0477:Fer1l4 UTSW 2 155,894,806 (GRCm39) missense probably benign 0.43
R0504:Fer1l4 UTSW 2 155,894,115 (GRCm39) missense probably benign 0.36
R0731:Fer1l4 UTSW 2 155,865,990 (GRCm39) missense probably benign 0.17
R0800:Fer1l4 UTSW 2 155,887,583 (GRCm39) missense possibly damaging 0.90
R0884:Fer1l4 UTSW 2 155,861,233 (GRCm39) missense possibly damaging 0.93
R1017:Fer1l4 UTSW 2 155,891,398 (GRCm39) critical splice acceptor site probably null
R1266:Fer1l4 UTSW 2 155,888,169 (GRCm39) missense possibly damaging 0.89
R1544:Fer1l4 UTSW 2 155,887,553 (GRCm39) missense probably benign 0.00
R1657:Fer1l4 UTSW 2 155,877,518 (GRCm39) missense possibly damaging 0.95
R1699:Fer1l4 UTSW 2 155,871,605 (GRCm39) missense probably benign 0.14
R1816:Fer1l4 UTSW 2 155,877,119 (GRCm39) missense probably damaging 0.98
R2117:Fer1l4 UTSW 2 155,881,038 (GRCm39) missense probably benign 0.00
R2219:Fer1l4 UTSW 2 155,873,684 (GRCm39) missense probably damaging 0.99
R2220:Fer1l4 UTSW 2 155,873,684 (GRCm39) missense probably damaging 0.99
R2879:Fer1l4 UTSW 2 155,894,120 (GRCm39) missense probably damaging 1.00
R3746:Fer1l4 UTSW 2 155,876,968 (GRCm39) missense probably benign 0.01
R3806:Fer1l4 UTSW 2 155,887,603 (GRCm39) missense probably damaging 1.00
R3807:Fer1l4 UTSW 2 155,887,603 (GRCm39) missense probably damaging 1.00
R4224:Fer1l4 UTSW 2 155,862,309 (GRCm39) missense probably benign 0.37
R4274:Fer1l4 UTSW 2 155,862,464 (GRCm39) missense probably damaging 1.00
R4569:Fer1l4 UTSW 2 155,878,559 (GRCm39) missense possibly damaging 0.77
R4619:Fer1l4 UTSW 2 155,889,007 (GRCm39) missense probably damaging 1.00
R4707:Fer1l4 UTSW 2 155,887,543 (GRCm39) missense possibly damaging 0.69
R4914:Fer1l4 UTSW 2 155,873,220 (GRCm39) missense probably benign 0.41
R4915:Fer1l4 UTSW 2 155,873,220 (GRCm39) missense probably benign 0.41
R4917:Fer1l4 UTSW 2 155,873,220 (GRCm39) missense probably benign 0.41
R4918:Fer1l4 UTSW 2 155,873,220 (GRCm39) missense probably benign 0.41
R4941:Fer1l4 UTSW 2 155,887,009 (GRCm39) missense probably damaging 1.00
R5011:Fer1l4 UTSW 2 155,873,135 (GRCm39) missense probably damaging 1.00
R5013:Fer1l4 UTSW 2 155,873,135 (GRCm39) missense probably damaging 1.00
R5130:Fer1l4 UTSW 2 155,891,386 (GRCm39) missense possibly damaging 0.54
R5385:Fer1l4 UTSW 2 155,879,286 (GRCm39) nonsense probably null
R5441:Fer1l4 UTSW 2 155,865,177 (GRCm39) missense probably benign 0.00
R5555:Fer1l4 UTSW 2 155,890,109 (GRCm39) missense probably damaging 1.00
R5838:Fer1l4 UTSW 2 155,893,913 (GRCm39) missense probably benign 0.01
R6125:Fer1l4 UTSW 2 155,888,907 (GRCm39) missense probably damaging 1.00
R6184:Fer1l4 UTSW 2 155,890,211 (GRCm39) missense probably damaging 1.00
R6246:Fer1l4 UTSW 2 155,866,902 (GRCm39) missense probably damaging 0.99
R6248:Fer1l4 UTSW 2 155,888,091 (GRCm39) missense probably damaging 1.00
R6274:Fer1l4 UTSW 2 155,871,188 (GRCm39) missense probably damaging 1.00
R6298:Fer1l4 UTSW 2 155,866,660 (GRCm39) missense probably damaging 1.00
R6362:Fer1l4 UTSW 2 155,890,170 (GRCm39) missense probably benign 0.08
R6490:Fer1l4 UTSW 2 155,889,834 (GRCm39) missense possibly damaging 0.94
R6494:Fer1l4 UTSW 2 155,887,390 (GRCm39) missense probably benign 0.02
R6516:Fer1l4 UTSW 2 155,877,119 (GRCm39) missense probably damaging 0.98
R6530:Fer1l4 UTSW 2 155,889,785 (GRCm39) critical splice donor site probably null
R6740:Fer1l4 UTSW 2 155,873,142 (GRCm39) missense probably damaging 1.00
R7039:Fer1l4 UTSW 2 155,878,650 (GRCm39) missense probably benign 0.05
R7121:Fer1l4 UTSW 2 155,886,477 (GRCm39) missense probably benign 0.13
R7132:Fer1l4 UTSW 2 155,887,546 (GRCm39) missense probably damaging 0.98
R7382:Fer1l4 UTSW 2 155,862,669 (GRCm39) nonsense probably null
R7631:Fer1l4 UTSW 2 155,890,195 (GRCm39) missense probably damaging 1.00
R7693:Fer1l4 UTSW 2 155,862,351 (GRCm39) missense possibly damaging 0.51
R7730:Fer1l4 UTSW 2 155,890,854 (GRCm39) missense probably benign
R8021:Fer1l4 UTSW 2 155,864,511 (GRCm39) missense probably damaging 0.98
R8161:Fer1l4 UTSW 2 155,866,555 (GRCm39) missense probably benign 0.03
R8171:Fer1l4 UTSW 2 155,890,151 (GRCm39) missense probably benign 0.29
R8241:Fer1l4 UTSW 2 155,891,585 (GRCm39) missense probably benign
R8245:Fer1l4 UTSW 2 155,886,934 (GRCm39) critical splice donor site probably null
R8280:Fer1l4 UTSW 2 155,891,620 (GRCm39) missense probably damaging 1.00
R8369:Fer1l4 UTSW 2 155,861,680 (GRCm39) missense probably benign 0.17
R8403:Fer1l4 UTSW 2 155,894,163 (GRCm39) missense possibly damaging 0.88
R8702:Fer1l4 UTSW 2 155,861,310 (GRCm39) missense probably benign 0.00
R8804:Fer1l4 UTSW 2 155,893,914 (GRCm39) missense probably benign 0.28
R8814:Fer1l4 UTSW 2 155,894,163 (GRCm39) missense probably benign 0.04
R8817:Fer1l4 UTSW 2 155,890,143 (GRCm39) missense probably damaging 0.99
R9325:Fer1l4 UTSW 2 155,877,934 (GRCm39) missense probably damaging 1.00
R9342:Fer1l4 UTSW 2 155,877,196 (GRCm39) missense probably benign 0.08
R9527:Fer1l4 UTSW 2 155,871,617 (GRCm39) missense probably damaging 0.96
R9661:Fer1l4 UTSW 2 155,862,336 (GRCm39) missense probably damaging 0.98
RF030:Fer1l4 UTSW 2 155,887,449 (GRCm39) small deletion probably benign
X0063:Fer1l4 UTSW 2 155,876,931 (GRCm39) missense probably damaging 1.00
Z1177:Fer1l4 UTSW 2 155,890,349 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TACTCTTTCCCCGGGATGAC -3'
(R):5'- CCAGGACTTCCAGGTATGAC -3'

Sequencing Primer
(F):5'- GAACCAGCGACTTTGCATCCTG -3'
(R):5'- AGGACTTCCAGGTATGACTCTCAG -3'
Posted On 2014-08-01