Incidental Mutation 'R6248:Fer1l4'
ID 505577
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 # R6248 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155861059-155894867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 155888091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 465 (R465C)
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: R465C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338
AA Change: R465C

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 100% (92/92)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 159,902,978 (GRCm39) S83P possibly damaging Het
Actr10 A T 12: 70,999,733 (GRCm39) E176D probably benign Het
Adcy3 G A 12: 4,258,662 (GRCm39) probably null Het
AI429214 T A 8: 37,461,278 (GRCm39) I142N probably damaging Het
Alox12 A G 11: 70,143,936 (GRCm39) L148S probably damaging Het
Ank3 A G 10: 69,809,680 (GRCm39) I1147V probably benign Het
Apoc2 C T 7: 19,407,493 (GRCm39) V12I probably benign Het
Arap3 T C 18: 38,124,407 (GRCm39) S311G probably benign Het
Arih2 G T 9: 108,488,841 (GRCm39) H292Q probably damaging Het
Cdc14a A T 3: 116,101,843 (GRCm39) D312E probably benign Het
Cdh12 T G 15: 21,237,800 (GRCm39) W12G possibly damaging Het
Cisd2 A T 3: 135,114,616 (GRCm39) N118K probably damaging Het
Cntnap5b A G 1: 99,999,827 (GRCm39) Q195R probably benign Het
Cyp2r1 A G 7: 114,161,966 (GRCm39) probably null Het
Cyp4f37 A G 17: 32,848,864 (GRCm39) D244G possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dido1 T A 2: 180,302,048 (GRCm39) H1952L probably damaging Het
Dnah10 T A 5: 124,871,283 (GRCm39) probably null Het
Dnal4 T A 15: 79,646,714 (GRCm39) M56L probably damaging Het
Emilin2 A G 17: 71,581,112 (GRCm39) V538A probably benign Het
Eps8l2 A G 7: 140,922,015 (GRCm39) D31G probably damaging Het
Erp44 A T 4: 48,219,479 (GRCm39) L112* probably null Het
Etl4 C T 2: 20,813,900 (GRCm39) T1907I possibly damaging Het
Exoc3 A G 13: 74,330,400 (GRCm39) F510L probably benign Het
Fam114a2 G T 11: 57,383,942 (GRCm39) T324K possibly damaging Het
Frmd4b A C 6: 97,436,173 (GRCm39) S2R probably benign Het
Fscn1 A T 5: 142,946,778 (GRCm39) D192V possibly damaging Het
Gm3486 T A 14: 41,206,472 (GRCm39) *200C probably null Het
Gusb A T 5: 130,029,366 (GRCm39) H138Q probably benign Het
Hdac9 A T 12: 34,578,293 (GRCm39) M4K possibly damaging Het
Hhipl1 G T 12: 108,284,964 (GRCm39) R439L probably benign Het
Hoxd9 A G 2: 74,528,980 (GRCm39) E194G probably benign Het
Itgb1 A G 8: 129,448,902 (GRCm39) S503G possibly damaging Het
Kcnt2 T A 1: 140,437,216 (GRCm39) C500S probably damaging Het
Kdm7a G A 6: 39,123,983 (GRCm39) S727L possibly damaging Het
Klhdc4 A G 8: 122,540,507 (GRCm39) F92L probably damaging Het
Klrb1a A G 6: 128,596,137 (GRCm39) V62A probably damaging Het
Krit1 A G 5: 3,863,032 (GRCm39) probably null Het
Krt40 A G 11: 99,432,566 (GRCm39) I150T possibly damaging Het
Larp4b A G 13: 9,208,738 (GRCm39) T464A probably benign Het
Lrrc52 T G 1: 167,293,964 (GRCm39) D107A probably damaging Het
Mapkap1 G T 2: 34,408,692 (GRCm39) V35F probably damaging Het
Mccc1 A G 3: 36,044,313 (GRCm39) V171A probably damaging Het
Metap1d A T 2: 71,346,104 (GRCm39) R222* probably null Het
Mrgpre G A 7: 143,334,603 (GRCm39) A300V probably benign Het
Mterf1b C A 5: 4,246,606 (GRCm39) N82K probably benign Het
Myh9 C T 15: 77,669,422 (GRCm39) W533* probably null Het
Myom2 A G 8: 15,148,472 (GRCm39) probably null Het
Ncor1 G A 11: 62,257,808 (GRCm39) P329S probably damaging Het
Nr2f1 T C 13: 78,344,611 (GRCm39) probably benign Het
Or10x1 T G 1: 174,197,236 (GRCm39) V251G probably benign Het
Or11a4 T A 17: 37,536,451 (GRCm39) L145* probably null Het
Or2a57 C T 6: 43,212,838 (GRCm39) Q99* probably null Het
Or2w6 A T 13: 21,843,244 (GRCm39) I83N possibly damaging Het
Or52p2 T C 7: 102,237,237 (GRCm39) T238A probably benign Het
Or6c210 A G 10: 129,496,532 (GRCm39) I286V probably benign Het
Or6z1 A T 7: 6,504,675 (GRCm39) C183* probably null Het
Pcdha11 T C 18: 37,138,950 (GRCm39) L193P probably benign Het
Pcdhb20 T A 18: 37,639,285 (GRCm39) F604I probably damaging Het
Pde1a T C 2: 79,708,545 (GRCm39) H291R probably damaging Het
Pfkm G A 15: 98,024,260 (GRCm39) V423M probably damaging Het
Pira1 C A 7: 3,739,337 (GRCm39) E510D probably benign Het
Pkd2l1 G T 19: 44,146,108 (GRCm39) Q149K probably benign Het
Pkhd1l1 T A 15: 44,392,955 (GRCm39) N1763K probably benign Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Prpf39 A C 12: 65,089,528 (GRCm39) N89H probably damaging Het
Rad54l2 A G 9: 106,587,537 (GRCm39) F743L probably damaging Het
Raver2 A G 4: 100,991,320 (GRCm39) probably null Het
Ric8b T C 10: 84,783,709 (GRCm39) L189P probably damaging Het
Sccpdh T C 1: 179,495,957 (GRCm39) F13L probably benign Het
Scd2 T C 19: 44,291,448 (GRCm39) F296L probably damaging Het
Scg2 G T 1: 79,414,023 (GRCm39) D233E probably benign Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Skint5 A T 4: 113,636,286 (GRCm39) V644E unknown Het
Slc44a5 G T 3: 153,969,678 (GRCm39) V612F possibly damaging Het
Snd1 C T 6: 28,520,234 (GRCm39) R107* probably null Het
Sun5 G T 2: 153,702,589 (GRCm39) T189K probably damaging Het
Tap1 A T 17: 34,412,151 (GRCm39) E452V probably damaging Het
Tcam1 A G 11: 106,173,652 (GRCm39) N32S probably benign Het
Tep1 T C 14: 51,067,715 (GRCm39) E2167G probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Tmem175 T C 5: 108,793,821 (GRCm39) V317A probably damaging Het
Tsga13 A G 6: 30,874,139 (GRCm39) V231A probably benign Het
Tspan12 A G 6: 21,799,970 (GRCm39) S126P probably damaging Het
Uvrag G T 7: 98,637,398 (GRCm39) D143E probably damaging Het
Vmn1r230 T A 17: 21,067,036 (GRCm39) M75K possibly damaging Het
Vmn2r120 A T 17: 57,852,287 (GRCm39) F10I probably benign Het
Vmn2r57 T C 7: 41,049,284 (GRCm39) T822A probably benign Het
Vmn2r67 T C 7: 84,799,768 (GRCm39) Y490C probably damaging Het
Zc3h7b T A 15: 81,667,386 (GRCm39) W644R probably damaging Het
Zeb1 A G 18: 5,766,962 (GRCm39) D491G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp831 A T 2: 174,486,308 (GRCm39) T328S possibly damaging 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
R6246:Fer1l4 UTSW 2 155,866,902 (GRCm39) missense probably damaging 0.99
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'- GAAGTACTGGTGTTGTGGTAAAG -3'
(R):5'- CACAAAGGCTGGCTTTTGGT -3'

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