Incidental Mutation 'R6246:Fer1l4'
ID 505757
Institutional Source Beutler Lab
Gene Symbol Fer1l4
Ensembl Gene ENSMUSG00000013338
Gene Name fer-1 like family member 4
Synonyms 9130402C12Rik
MMRRC Submission 044436-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6246 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155861059-155894867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155866902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1489 (I1489F)
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: I1489F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338
AA Change: I1489F

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
Predicted Effect probably benign
Transcript: ENSMUST00000132912
SMART Domains Protein: ENSMUSP00000123091
Gene: ENSMUSG00000013338

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
low complexity region 84 94 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150538
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (78/78)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,850,999 (GRCm39) V2110E probably damaging Het
Acaca C A 11: 84,206,796 (GRCm39) T1552K probably benign Het
Aknad1 A G 3: 108,659,148 (GRCm39) D54G probably damaging Het
Ano1 T C 7: 144,187,462 (GRCm39) T435A possibly damaging Het
Azgp1 A G 5: 137,983,475 (GRCm39) D50G possibly damaging Het
Bbx A G 16: 50,045,023 (GRCm39) S513P probably benign Het
Ccdc85a C T 11: 28,526,897 (GRCm39) S209N probably damaging Het
Cdca2 T A 14: 67,915,277 (GRCm39) R661* probably null Het
Cdhr2 T C 13: 54,867,523 (GRCm39) V451A probably damaging Het
Cenpt C T 8: 106,575,891 (GRCm39) G152S possibly damaging Het
Chd9 A G 8: 91,659,045 (GRCm39) T2A probably damaging Het
Chst14 G A 2: 118,757,482 (GRCm39) C117Y probably damaging Het
Cic C T 7: 24,971,067 (GRCm39) T266M probably damaging Het
Clec12a A T 6: 129,330,733 (GRCm39) N105I possibly damaging Het
Cmah G A 13: 24,650,773 (GRCm39) V525M probably damaging Het
Cplane1 T A 15: 8,239,498 (GRCm39) L1233H probably damaging Het
Cpt1a T C 19: 3,426,550 (GRCm39) L572P probably damaging Het
Crybg2 T C 4: 133,816,657 (GRCm39) L1365P probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg1 G A 16: 31,484,468 (GRCm39) S32N probably benign Het
Dnah14 T C 1: 181,508,453 (GRCm39) I1877T probably benign Het
Duox1 G T 2: 122,157,655 (GRCm39) G594C probably damaging Het
Eci2 T C 13: 35,174,181 (GRCm39) N127D probably damaging Het
Ecpas A G 4: 58,811,365 (GRCm39) probably null Het
Fat4 T C 3: 38,945,870 (GRCm39) S1588P probably damaging Het
Flrt3 A G 2: 140,501,721 (GRCm39) Y636H probably damaging Het
Frmd5 T A 2: 121,381,529 (GRCm39) H62L possibly damaging Het
Gm6309 A T 5: 146,107,050 (GRCm39) Y99N probably damaging Het
Gm8225 T C 17: 26,762,652 (GRCm39) V281A probably benign Het
Grep1 C A 17: 23,929,465 (GRCm39) G315* probably null Het
Grsf1 A G 5: 88,810,451 (GRCm39) L353P possibly damaging Het
Gtf2a1l A G 17: 88,978,975 (GRCm39) R58G probably benign Het
Guf1 G A 5: 69,715,898 (GRCm39) G113R probably damaging Het
Hfe A T 13: 23,892,212 (GRCm39) F51I probably damaging Het
Hibch T C 1: 52,943,801 (GRCm39) S250P probably damaging Het
Il1rap T A 16: 26,533,631 (GRCm39) M509K probably benign Het
Il4ra T C 7: 125,175,577 (GRCm39) V595A probably benign Het
Ints11 A G 4: 155,972,546 (GRCm39) T460A probably benign Het
Itprid1 A T 6: 55,944,657 (GRCm39) K459N probably damaging Het
Kdm5a G A 6: 120,408,871 (GRCm39) G1518E probably damaging Het
Khsrp T C 17: 57,332,324 (GRCm39) D289G possibly damaging Het
Kif14 C T 1: 136,404,162 (GRCm39) Q29* probably null Het
Krt72 T C 15: 101,689,372 (GRCm39) K320R probably damaging Het
Lcmt2 A G 2: 120,970,870 (GRCm39) L71P probably damaging Het
Lmo7 A T 14: 102,156,136 (GRCm39) D1037V probably damaging Het
Lpo T C 11: 87,713,058 (GRCm39) T15A unknown Het
Mia3 G T 1: 183,126,720 (GRCm39) T7N probably damaging Het
Muc16 A T 9: 18,488,363 (GRCm39) probably null Het
Mup9 T A 4: 60,375,809 (GRCm39) Y29F probably damaging Het
Nisch T C 14: 30,894,516 (GRCm39) D1105G probably damaging Het
Odad1 A G 7: 45,585,788 (GRCm39) I116V probably damaging Het
Oip5 T C 2: 119,446,101 (GRCm39) T136A probably benign Het
Or2a52 G A 6: 43,144,436 (GRCm39) probably null Het
Osbpl10 C A 9: 115,055,842 (GRCm39) N532K probably benign Het
P2ry12 C T 3: 59,124,950 (GRCm39) V242I probably benign Het
Pdhx A T 2: 102,877,137 (GRCm39) C26S probably damaging Het
Pgk2 A T 17: 40,518,315 (GRCm39) I371K probably damaging Het
Phyhip T C 14: 70,704,495 (GRCm39) V238A probably damaging Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Pld5 A T 1: 175,791,475 (GRCm39) C448* probably null Het
Plk1 T A 7: 121,768,659 (GRCm39) I553N probably damaging Het
Ppp1r13l T A 7: 19,103,783 (GRCm39) I88K probably benign Het
Rad54l2 A G 9: 106,577,692 (GRCm39) probably null Het
Septin7 A G 9: 25,218,817 (GRCm39) E428G probably benign Het
Serpina3j G A 12: 104,283,706 (GRCm39) G268D probably damaging Het
Smc2 A T 4: 52,460,289 (GRCm39) D555V probably damaging Het
Spag16 A T 1: 69,962,980 (GRCm39) I376F probably benign Het
Spag6 G A 2: 18,703,906 (GRCm39) probably null Het
Tecta T C 9: 42,289,204 (GRCm39) I454V probably benign Het
Tlcd3b T A 7: 126,426,668 (GRCm39) F30L probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Traf5 C T 1: 191,754,853 (GRCm39) E28K probably damaging Het
Trav23 G A 14: 54,214,885 (GRCm39) E33K probably damaging Het
Trim32 T C 4: 65,532,801 (GRCm39) S453P probably damaging Het
Tssk1 A G 16: 17,713,303 (GRCm39) T363A probably benign Het
Txnrd3 A G 6: 89,628,523 (GRCm39) N88S probably benign Het
Unc13b A G 4: 43,216,246 (GRCm39) S182G probably benign Het
Vmn2r89 A T 14: 51,693,503 (GRCm39) R284S probably damaging Het
Zbtb14 A G 17: 69,694,478 (GRCm39) T59A possibly damaging Het
Zcchc2 T A 1: 105,957,796 (GRCm39) S756T possibly damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign 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
R1950:Fer1l4 UTSW 2 155,890,194 (GRCm39) missense probably damaging 1.00
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
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'- TCGAATACGGCCACAGTCAG -3'
(R):5'- AAATCCTGACATTAGGTCCAACAAG -3'

Sequencing Primer
(F):5'- ATACGGCCACAGTCAGCTCTG -3'
(R):5'- AACAAGGGCCTGGGCTTC -3'
Posted On 2018-02-28