Incidental Mutation 'R9510:Fer1l5'
ID 718056
Institutional Source Beutler Lab
Gene Symbol Fer1l5
Ensembl Gene ENSMUSG00000037432
Gene Name fer-1 like family member 5
Synonyms 4930533C12Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R9510 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 36411372-36461191 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36442662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 727 (L727P)
Ref Sequence ENSEMBL: ENSMUSP00000142130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179162]
AlphaFold P0DM40
Predicted Effect probably damaging
Transcript: ENSMUST00000179162
AA Change: L727P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142130
Gene: ENSMUSG00000037432
AA Change: L727P

DomainStartEndE-ValueType
C2 1 98 2.74e-4 SMART
C2 168 264 4.29e-6 SMART
FerI 250 323 1.59e-19 SMART
C2 325 422 1.06e-5 SMART
FerA 602 669 6.26e-18 SMART
FerB 691 764 1.38e-37 SMART
internal_repeat_1 781 836 1.77e-5 PROSPERO
internal_repeat_1 852 904 1.77e-5 PROSPERO
DysFC 913 951 1.61e-3 SMART
DysFC 981 1013 4.81e-2 SMART
C2 1078 1222 1.56e0 SMART
Pfam:C2 1248 1329 1e-1 PFAM
low complexity region 1376 1387 N/A INTRINSIC
low complexity region 1459 1470 N/A INTRINSIC
C2 1487 1586 2.21e-8 SMART
C2 1659 1851 5.32e-2 SMART
transmembrane domain 1964 1986 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202030
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578G10Rik T G 4: 42,760,998 (GRCm39) W6G unknown Het
Aatk A T 11: 119,901,094 (GRCm39) C1101S probably benign Het
Ankrd61 T C 5: 143,828,322 (GRCm39) T218A possibly damaging Het
Cacna1b T C 2: 24,540,058 (GRCm39) E1467G probably damaging Het
Ccdc186 T C 19: 56,802,016 (GRCm39) T34A probably benign Het
Cdc42bpb G A 12: 111,261,372 (GRCm39) P1656S probably benign Het
Cdk13 A C 13: 17,902,747 (GRCm39) C934W probably damaging Het
Cebpg T C 7: 34,750,080 (GRCm39) N61S probably benign Het
Cldn13 T A 5: 134,943,843 (GRCm39) E114V probably benign Het
Clec9a T A 6: 129,398,023 (GRCm39) I187K possibly damaging Het
Cr2 G T 1: 194,840,416 (GRCm39) L509M probably damaging Het
Creb3l2 C A 6: 37,311,446 (GRCm39) G448W probably damaging Het
Csf2rb T A 15: 78,229,760 (GRCm39) probably null Het
Cyth1 C T 11: 118,076,206 (GRCm39) probably null Het
Dapk1 A T 13: 60,910,203 (GRCm39) D1441V unknown Het
Dnhd1 A T 7: 105,352,889 (GRCm39) N2681Y possibly damaging Het
Dnm1 T C 2: 32,213,739 (GRCm39) M476V probably benign Het
Dock1 T G 7: 134,592,279 (GRCm39) I938S probably benign Het
Duox1 G A 2: 122,160,023 (GRCm39) V713I possibly damaging Het
Dusp16 T C 6: 134,695,226 (GRCm39) H535R probably benign Het
Eif3j2 TGCCGCCGCCGCCGCCGCCGCCGCCGCC TGCCGCCGCCGCCGCCGCCGCCGCC 18: 43,610,782 (GRCm39) probably benign Het
Fancd2os T A 6: 113,574,994 (GRCm39) Y4F probably damaging Het
Fat4 A T 3: 39,037,886 (GRCm39) Q3846L probably benign Het
Fbxw10 A C 11: 62,743,814 (GRCm39) H240P probably benign Het
Fezf1 A C 6: 23,247,845 (GRCm39) F77V probably benign Het
Fli1 T C 9: 32,335,493 (GRCm39) D313G probably damaging Het
Frmd4a A G 2: 4,608,324 (GRCm39) T731A probably benign Het
Gfy T C 7: 44,828,090 (GRCm39) Q2R possibly damaging Het
Ggt5 T C 10: 75,445,139 (GRCm39) V382A probably benign Het
Hira A G 16: 18,772,789 (GRCm39) D867G probably damaging Het
Hmcn1 A G 1: 150,462,127 (GRCm39) S5184P probably benign Het
Ighv1-26 A C 12: 114,752,407 (GRCm39) F7V probably benign Het
Igkv4-81 C T 6: 68,967,796 (GRCm39) E102K possibly damaging Het
Inmt G T 6: 55,147,990 (GRCm39) S213Y possibly damaging Het
Ints2 T A 11: 86,135,335 (GRCm39) M360L probably benign Het
Itih3 A G 14: 30,631,416 (GRCm39) S827P probably benign Het
Kcnk12 C A 17: 88,054,122 (GRCm39) R180L probably benign Het
Klhl2 T C 8: 65,202,113 (GRCm39) N521S probably benign Het
Kmt2a A T 9: 44,734,531 (GRCm39) F2104I unknown Het
Kndc1 G A 7: 139,510,031 (GRCm39) S1291N probably benign Het
Mettl21a T C 1: 64,647,285 (GRCm39) T91A probably damaging Het
Mmrn2 A G 14: 34,120,407 (GRCm39) I426V possibly damaging Het
Mrpl2 T C 17: 46,958,440 (GRCm39) V74A probably benign Het
Msantd4 A G 9: 4,385,007 (GRCm39) D244G probably benign Het
Mtfmt C T 9: 65,343,147 (GRCm39) R18C probably benign Het
Ncam2 A G 16: 81,420,341 (GRCm39) *838W probably null Het
Ncor1 CTG CTGATG 11: 62,324,442 (GRCm39) probably benign Het
Nsf T C 11: 103,763,988 (GRCm39) N365S probably damaging Het
Osbpl3 C T 6: 50,313,194 (GRCm39) probably null Het
Pam C T 1: 97,826,065 (GRCm39) probably null Het
Parn A T 16: 13,358,942 (GRCm39) M600K probably benign Het
Pcdha11 C A 18: 37,139,532 (GRCm39) T387N probably benign Het
Ptprt A C 2: 161,397,381 (GRCm39) C1129G probably damaging Het
Ralgapb T A 2: 158,285,856 (GRCm39) S645T probably damaging Het
Rara C T 11: 98,860,983 (GRCm39) S157L probably benign Het
Rnf40 T A 7: 127,201,808 (GRCm39) I1000N probably damaging Het
Sap25 C T 5: 137,640,494 (GRCm39) T141I probably null Het
Scube2 C T 7: 109,430,969 (GRCm39) G410E probably damaging Het
Sh3gl2 A G 4: 85,304,089 (GRCm39) E264G probably benign Het
Smc4 T G 3: 68,914,662 (GRCm39) S92A probably damaging Het
Sorcs1 C T 19: 50,666,521 (GRCm39) R129Q probably benign Het
Spata31e4 A G 13: 50,856,149 (GRCm39) T596A possibly damaging Het
Spef2 T C 15: 9,713,203 (GRCm39) R390G probably damaging Het
Speg T C 1: 75,377,768 (GRCm39) F842S probably damaging Het
Stk17b G T 1: 53,796,898 (GRCm39) H290N probably damaging Het
Stpg3 A T 2: 25,103,516 (GRCm39) V191D probably benign Het
Supt6 C T 11: 78,120,290 (GRCm39) R350H probably damaging Het
Taf1b G A 12: 24,566,947 (GRCm39) A214T possibly damaging Het
Tet3 T C 6: 83,380,935 (GRCm39) E411G possibly damaging Het
Tet3 T A 6: 83,381,808 (GRCm39) probably null Het
Tg T C 15: 66,545,913 (GRCm39) Y212H probably damaging Het
Tns3 A G 11: 8,395,702 (GRCm39) I1234T probably damaging Het
Traf6 C T 2: 101,521,825 (GRCm39) T220I possibly damaging Het
Tram2 C G 1: 21,074,150 (GRCm39) A263P possibly damaging Het
Treml1 T G 17: 48,673,771 (GRCm39) S261A probably damaging Het
Trim34b A G 7: 103,980,503 (GRCm39) E197G probably damaging Het
Tspan18 C T 2: 93,050,462 (GRCm39) G54S probably damaging Het
Wdtc1 A G 4: 133,049,529 (GRCm39) V29A probably damaging Het
Zdhhc16 T C 19: 41,929,155 (GRCm39) Y253H probably damaging Het
Zfp366 A G 13: 99,365,874 (GRCm39) Y345C probably damaging Het
Zfp423 T A 8: 88,510,041 (GRCm39) D101V possibly damaging Het
Zfp462 G A 4: 55,080,735 (GRCm39) M2450I probably benign Het
Zfp52 C T 17: 21,782,218 (GRCm39) L689F possibly damaging Het
Zim1 G A 7: 6,690,739 (GRCm39) Q29* probably null Het
Other mutations in Fer1l5
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4151001:Fer1l5 UTSW 1 36,450,728 (GRCm39) missense probably benign 0.27
R5580:Fer1l5 UTSW 1 36,424,539 (GRCm39) nonsense probably null
R5848:Fer1l5 UTSW 1 36,428,016 (GRCm39) missense probably benign 0.39
R5930:Fer1l5 UTSW 1 36,424,254 (GRCm39) nonsense probably null
R6193:Fer1l5 UTSW 1 36,448,517 (GRCm39) missense probably benign 0.20
R6195:Fer1l5 UTSW 1 36,414,367 (GRCm39) splice site probably null
R6207:Fer1l5 UTSW 1 36,424,241 (GRCm39) missense probably damaging 1.00
R6233:Fer1l5 UTSW 1 36,414,367 (GRCm39) splice site probably null
R6349:Fer1l5 UTSW 1 36,450,355 (GRCm39) missense probably damaging 0.96
R6478:Fer1l5 UTSW 1 36,441,612 (GRCm39) missense probably damaging 1.00
R6514:Fer1l5 UTSW 1 36,442,697 (GRCm39) missense probably benign 0.01
R6611:Fer1l5 UTSW 1 36,445,735 (GRCm39) missense probably benign 0.01
R6634:Fer1l5 UTSW 1 36,450,466 (GRCm39) missense probably damaging 0.99
R6733:Fer1l5 UTSW 1 36,447,753 (GRCm39) critical splice donor site probably null
R6816:Fer1l5 UTSW 1 36,445,591 (GRCm39) missense possibly damaging 0.60
R7225:Fer1l5 UTSW 1 36,460,033 (GRCm39) missense possibly damaging 0.90
R7316:Fer1l5 UTSW 1 36,457,197 (GRCm39) missense probably benign 0.41
R7455:Fer1l5 UTSW 1 36,428,064 (GRCm39) missense probably benign 0.00
R7473:Fer1l5 UTSW 1 36,460,689 (GRCm39) missense possibly damaging 0.53
R7702:Fer1l5 UTSW 1 36,459,775 (GRCm39) nonsense probably null
R7714:Fer1l5 UTSW 1 36,440,558 (GRCm39) missense probably damaging 1.00
R7872:Fer1l5 UTSW 1 36,460,967 (GRCm39) missense probably benign 0.00
R7881:Fer1l5 UTSW 1 36,446,117 (GRCm39) missense not run
R7984:Fer1l5 UTSW 1 36,447,702 (GRCm39) missense possibly damaging 0.68
R8326:Fer1l5 UTSW 1 36,415,841 (GRCm39) missense probably benign 0.04
R8523:Fer1l5 UTSW 1 36,426,271 (GRCm39) missense probably benign 0.27
R8528:Fer1l5 UTSW 1 36,456,855 (GRCm39) missense possibly damaging 0.91
R8975:Fer1l5 UTSW 1 36,456,897 (GRCm39) missense probably benign 0.13
R9011:Fer1l5 UTSW 1 36,441,601 (GRCm39) missense probably damaging 0.96
R9084:Fer1l5 UTSW 1 36,429,619 (GRCm39) missense probably benign 0.00
R9140:Fer1l5 UTSW 1 36,460,047 (GRCm39) intron probably benign
R9180:Fer1l5 UTSW 1 36,449,999 (GRCm39) missense probably null 1.00
R9312:Fer1l5 UTSW 1 36,460,248 (GRCm39) missense probably damaging 1.00
R9655:Fer1l5 UTSW 1 36,460,696 (GRCm39) missense probably benign 0.40
Z1176:Fer1l5 UTSW 1 36,429,644 (GRCm39) nonsense probably null
Z1177:Fer1l5 UTSW 1 36,448,275 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TCTCAACGCTGTGATCCCTG -3'
(R):5'- CAGTTCTACTTAATACAGAAGCAGG -3'

Sequencing Primer
(F):5'- AACGCTGTGATCCCTGAGGTAG -3'
(R):5'- GAAAGAACACGTGGACCATATC -3'
Posted On 2022-07-18