Incidental Mutation 'R0304:Fer1l6'
ID 37792
Institutional Source Beutler Lab
Gene Symbol Fer1l6
Ensembl Gene ENSMUSG00000037106
Gene Name fer-1 like family member 6
Synonyms EG631797
MMRRC Submission 038515-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0304 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 58381897-58536936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58462411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 822 (Y822C)
Ref Sequence ENSEMBL: ENSMUSP00000125718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161028]
AlphaFold E0CZ42
Predicted Effect probably benign
Transcript: ENSMUST00000161028
AA Change: Y822C

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: Y822C

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
C2 83 179 4.09e-12 SMART
FerI 165 235 2.06e-36 SMART
C2 243 354 5.19e-14 SMART
low complexity region 412 449 N/A INTRINSIC
FerB 714 787 2.53e-45 SMART
C2 829 936 8.84e-8 SMART
C2 1000 1099 3.05e0 SMART
low complexity region 1189 1203 N/A INTRINSIC
low complexity region 1256 1270 N/A INTRINSIC
C2 1361 1460 5.78e-12 SMART
low complexity region 1518 1529 N/A INTRINSIC
C2 1601 1731 1.01e-2 SMART
Pfam:Ferlin_C 1765 1857 2.3e-40 PFAM
Meta Mutation Damage Score 0.2476 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (95/97)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 C T 4: 144,246,619 (GRCm39) T55I probably benign Het
Acod1 T A 14: 103,292,418 (GRCm39) I314N probably damaging Het
Actl11 T A 9: 107,806,967 (GRCm39) V430E probably damaging Het
Adam19 A C 11: 46,018,219 (GRCm39) D427A possibly damaging Het
Adarb2 C T 13: 8,802,606 (GRCm39) probably benign Het
Akap7 A T 10: 25,147,450 (GRCm39) H93Q probably damaging Het
Ankrd36 C A 11: 5,578,981 (GRCm39) R82S possibly damaging Het
Arhgap21 A T 2: 20,864,612 (GRCm39) probably benign Het
Atm T A 9: 53,427,644 (GRCm39) I489F probably benign Het
Carmil1 T C 13: 24,323,324 (GRCm39) S243G probably damaging Het
Cdc42bpg T C 19: 6,367,278 (GRCm39) V939A probably damaging Het
Cel A C 2: 28,447,783 (GRCm39) L377R probably benign Het
Clock A G 5: 76,374,832 (GRCm39) V779A unknown Het
Cluap1 G A 16: 3,747,782 (GRCm39) probably benign Het
Ctif A T 18: 75,654,889 (GRCm39) H212Q probably benign Het
Cyp4a29 T A 4: 115,110,129 (GRCm39) probably benign Het
Cytip T C 2: 58,038,258 (GRCm39) N101S possibly damaging Het
D130043K22Rik T C 13: 25,048,798 (GRCm39) M434T probably benign Het
Ddx47 A G 6: 134,994,183 (GRCm39) I154V possibly damaging Het
Dnah6 C T 6: 73,136,098 (GRCm39) E1014K probably damaging Het
Dnajc27 T G 12: 4,156,793 (GRCm39) probably benign Het
Drc7 A T 8: 95,785,756 (GRCm39) D204V probably damaging Het
Dsc3 A G 18: 20,114,298 (GRCm39) Y319H probably damaging Het
Eml6 T C 11: 29,727,441 (GRCm39) Q1227R probably benign Het
Enpp2 A T 15: 54,741,202 (GRCm39) D365E probably benign Het
Ercc2 T C 7: 19,120,633 (GRCm39) I199T possibly damaging Het
Exd2 G A 12: 80,538,014 (GRCm39) probably benign Het
F2 A T 2: 91,463,578 (GRCm39) I128N probably damaging Het
Fam219b T C 9: 57,446,159 (GRCm39) L123P probably damaging Het
Fasn A G 11: 120,710,762 (GRCm39) V299A possibly damaging Het
Fastkd2 T C 1: 63,791,559 (GRCm39) V689A possibly damaging Het
Fbxw13 C T 9: 109,023,789 (GRCm39) R85Q probably benign Het
Fhl5 T C 4: 25,207,241 (GRCm39) T176A probably benign Het
Gm20530 T G 17: 36,405,118 (GRCm39) noncoding transcript Het
Gm4787 A T 12: 81,425,708 (GRCm39) I150N probably damaging Het
Grip1 G A 10: 119,911,376 (GRCm39) S618N probably benign Het
Hdac9 T C 12: 34,424,110 (GRCm39) K454E probably damaging Het
Iars2 T A 1: 185,019,353 (GRCm39) I978F possibly damaging Het
Icosl A G 10: 77,911,156 (GRCm39) Y299C probably benign Het
Idi1 T C 13: 8,940,393 (GRCm39) Y192H probably damaging Het
Iqub T G 6: 24,454,290 (GRCm39) Q531P probably damaging Het
Itih4 T A 14: 30,612,051 (GRCm39) probably null Het
Izumo4 A T 10: 80,538,770 (GRCm39) H71L probably damaging Het
Jcad A T 18: 4,673,325 (GRCm39) E362D possibly damaging Het
Kif21a G T 15: 90,860,724 (GRCm39) probably null Het
Kynu A T 2: 43,569,893 (GRCm39) I392F probably damaging Het
Luc7l2 A G 6: 38,569,711 (GRCm39) E223G probably damaging Het
Map3k8 A C 18: 4,339,552 (GRCm39) L273R probably damaging Het
Max A G 12: 76,985,361 (GRCm39) L119P probably benign Het
Mphosph9 T C 5: 124,436,892 (GRCm39) N484S probably benign Het
Mrgprg A G 7: 143,318,792 (GRCm39) Y107H probably damaging Het
Mrps31 A T 8: 22,911,354 (GRCm39) I199F probably benign Het
Mtr C G 13: 12,237,040 (GRCm39) probably null Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Nkapd1 T C 9: 50,519,222 (GRCm39) D130G probably damaging Het
Nptx2 A G 5: 144,490,460 (GRCm39) probably benign Het
Nrip1 T C 16: 76,089,595 (GRCm39) Q654R possibly damaging Het
Ocm A G 5: 143,961,352 (GRCm39) F30L probably damaging Het
Oosp1 T C 19: 11,668,333 (GRCm39) M17V probably benign Het
Or14c45 C T 7: 86,176,195 (GRCm39) P77S probably damaging Het
Or4c111 G A 2: 88,843,632 (GRCm39) R259W probably damaging Het
Or4c118 A C 2: 88,975,108 (GRCm39) Y86* probably null Het
Or52ad1 G T 7: 102,995,918 (GRCm39) D72E probably damaging Het
Pax1 A T 2: 147,208,067 (GRCm39) Y225F probably benign Het
Pde4dip T A 3: 97,751,028 (GRCm39) H62L probably benign Het
Pkd1 C A 17: 24,804,920 (GRCm39) Q3190K probably damaging Het
Pkn1 A C 8: 84,410,236 (GRCm39) probably benign Het
Plin5 T C 17: 56,422,597 (GRCm39) D113G probably damaging Het
Ppfia1 A G 7: 144,036,082 (GRCm39) V1141A probably damaging Het
Ppp4r1 T A 17: 66,123,001 (GRCm39) D334E probably benign Het
Ptov1 A T 7: 44,512,873 (GRCm39) probably null Het
Rab22a G A 2: 173,503,252 (GRCm39) V22M probably damaging Het
Rictor T A 15: 6,815,852 (GRCm39) probably null Het
Sart1 G T 19: 5,430,559 (GRCm39) probably benign Het
Scn11a G A 9: 119,648,928 (GRCm39) A45V probably benign Het
Serpina5 A G 12: 104,069,459 (GRCm39) T224A possibly damaging Het
Siglecf G T 7: 43,001,825 (GRCm39) G212C probably damaging Het
Slc38a4 A T 15: 96,906,335 (GRCm39) M378K probably damaging Het
Spata22 T A 11: 73,231,275 (GRCm39) C176* probably null Het
Tmc3 G A 7: 83,245,347 (GRCm39) E131K probably damaging Het
Trappc10 A T 10: 78,046,594 (GRCm39) probably benign Het
Uvrag A G 7: 98,537,180 (GRCm39) F672L probably benign Het
Vmn1r121 A G 7: 20,832,332 (GRCm39) V36A possibly damaging Het
Vmn1r13 A T 6: 57,187,611 (GRCm39) M257L probably benign Het
Vmn1r58 C T 7: 5,413,495 (GRCm39) C245Y probably damaging Het
Vmn1r86 C A 7: 12,836,707 (GRCm39) M56I probably benign Het
Wdr62 T C 7: 29,942,299 (GRCm39) Y1051C probably benign Het
Xpnpep3 A G 15: 81,314,915 (GRCm39) D205G probably damaging Het
Zdhhc14 T C 17: 5,775,611 (GRCm39) probably benign Het
Zfp607a A T 7: 27,578,637 (GRCm39) D569V possibly damaging Het
Zfp609 C T 9: 65,608,470 (GRCm39) E1137K possibly damaging Het
Zfp871 T C 17: 32,993,408 (GRCm39) Y589C probably damaging Het
Zzef1 A T 11: 72,771,450 (GRCm39) D1644V probably benign Het
Other mutations in Fer1l6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0009:Fer1l6 UTSW 15 58,534,636 (GRCm39) missense probably damaging 1.00
R0141:Fer1l6 UTSW 15 58,430,251 (GRCm39) missense probably damaging 1.00
R0178:Fer1l6 UTSW 15 58,509,763 (GRCm39) splice site probably null
R0379:Fer1l6 UTSW 15 58,420,187 (GRCm39) missense probably benign 0.05
R0457:Fer1l6 UTSW 15 58,509,943 (GRCm39) critical splice donor site probably null
R0546:Fer1l6 UTSW 15 58,430,257 (GRCm39) splice site probably null
R0602:Fer1l6 UTSW 15 58,449,794 (GRCm39) missense probably damaging 0.98
R0619:Fer1l6 UTSW 15 58,534,784 (GRCm39) splice site probably null
R0669:Fer1l6 UTSW 15 58,425,573 (GRCm39) splice site probably null
R0854:Fer1l6 UTSW 15 58,431,037 (GRCm39) missense probably benign 0.00
R0948:Fer1l6 UTSW 15 58,435,924 (GRCm39) missense probably benign 0.00
R1180:Fer1l6 UTSW 15 58,474,160 (GRCm39) splice site probably benign
R1483:Fer1l6 UTSW 15 58,509,819 (GRCm39) missense possibly damaging 0.84
R1627:Fer1l6 UTSW 15 58,513,728 (GRCm39) missense probably benign 0.41
R1635:Fer1l6 UTSW 15 58,518,930 (GRCm39) missense probably damaging 1.00
R1834:Fer1l6 UTSW 15 58,429,718 (GRCm39) missense possibly damaging 0.58
R1921:Fer1l6 UTSW 15 58,497,080 (GRCm39) missense probably damaging 1.00
R2000:Fer1l6 UTSW 15 58,474,160 (GRCm39) splice site probably benign
R2041:Fer1l6 UTSW 15 58,430,155 (GRCm39) missense probably damaging 1.00
R2144:Fer1l6 UTSW 15 58,499,383 (GRCm39) missense probably benign
R2145:Fer1l6 UTSW 15 58,499,383 (GRCm39) missense probably benign
R2981:Fer1l6 UTSW 15 58,435,926 (GRCm39) missense probably damaging 0.99
R4164:Fer1l6 UTSW 15 58,431,087 (GRCm39) missense possibly damaging 0.83
R4192:Fer1l6 UTSW 15 58,518,998 (GRCm39) missense probably damaging 1.00
R4273:Fer1l6 UTSW 15 58,499,371 (GRCm39) missense probably benign 0.41
R4573:Fer1l6 UTSW 15 58,498,129 (GRCm39) critical splice donor site probably null
R4581:Fer1l6 UTSW 15 58,512,075 (GRCm39) missense probably damaging 1.00
R4624:Fer1l6 UTSW 15 58,425,554 (GRCm39) missense probably damaging 1.00
R4755:Fer1l6 UTSW 15 58,512,060 (GRCm39) missense probably benign 0.09
R4774:Fer1l6 UTSW 15 58,449,798 (GRCm39) missense probably damaging 0.99
R4894:Fer1l6 UTSW 15 58,490,751 (GRCm39) missense probably damaging 1.00
R4896:Fer1l6 UTSW 15 58,509,869 (GRCm39) missense probably damaging 1.00
R4921:Fer1l6 UTSW 15 58,472,160 (GRCm39) critical splice acceptor site probably null
R4962:Fer1l6 UTSW 15 58,443,250 (GRCm39) missense probably benign 0.03
R5029:Fer1l6 UTSW 15 58,515,769 (GRCm39) missense probably benign 0.00
R5134:Fer1l6 UTSW 15 58,512,003 (GRCm39) missense probably damaging 1.00
R5175:Fer1l6 UTSW 15 58,422,126 (GRCm39) missense probably damaging 1.00
R5227:Fer1l6 UTSW 15 58,453,752 (GRCm39) nonsense probably null
R5561:Fer1l6 UTSW 15 58,532,674 (GRCm39) missense probably damaging 0.97
R5621:Fer1l6 UTSW 15 58,430,175 (GRCm39) missense probably damaging 1.00
R5670:Fer1l6 UTSW 15 58,494,331 (GRCm39) missense probably benign 0.00
R5745:Fer1l6 UTSW 15 58,443,238 (GRCm39) missense probably benign 0.01
R5807:Fer1l6 UTSW 15 58,462,399 (GRCm39) nonsense probably null
R5823:Fer1l6 UTSW 15 58,462,352 (GRCm39) nonsense probably null
R5892:Fer1l6 UTSW 15 58,435,917 (GRCm39) missense probably benign
R6006:Fer1l6 UTSW 15 58,518,893 (GRCm39) missense probably damaging 1.00
R6137:Fer1l6 UTSW 15 58,431,055 (GRCm39) missense probably damaging 0.97
R6195:Fer1l6 UTSW 15 58,509,806 (GRCm39) missense probably damaging 1.00
R6234:Fer1l6 UTSW 15 58,432,488 (GRCm39) missense probably damaging 1.00
R6237:Fer1l6 UTSW 15 58,509,855 (GRCm39) missense probably damaging 1.00
R6237:Fer1l6 UTSW 15 58,497,026 (GRCm39) nonsense probably null
R6271:Fer1l6 UTSW 15 58,513,767 (GRCm39) missense probably benign 0.01
R6336:Fer1l6 UTSW 15 58,431,081 (GRCm39) nonsense probably null
R6784:Fer1l6 UTSW 15 58,443,275 (GRCm39) missense possibly damaging 0.63
R6852:Fer1l6 UTSW 15 58,466,727 (GRCm39) missense probably damaging 1.00
R7030:Fer1l6 UTSW 15 58,501,227 (GRCm39) missense probably damaging 1.00
R7088:Fer1l6 UTSW 15 58,435,899 (GRCm39) missense possibly damaging 0.69
R7181:Fer1l6 UTSW 15 58,447,146 (GRCm39) missense probably benign 0.00
R7226:Fer1l6 UTSW 15 58,462,384 (GRCm39) missense probably benign 0.00
R7266:Fer1l6 UTSW 15 58,499,446 (GRCm39) missense probably benign
R7463:Fer1l6 UTSW 15 58,445,450 (GRCm39) nonsense probably null
R7464:Fer1l6 UTSW 15 58,445,096 (GRCm39) splice site probably null
R7469:Fer1l6 UTSW 15 58,462,419 (GRCm39) splice site probably null
R7483:Fer1l6 UTSW 15 58,513,794 (GRCm39) missense possibly damaging 0.83
R7491:Fer1l6 UTSW 15 58,472,281 (GRCm39) missense probably damaging 1.00
R7534:Fer1l6 UTSW 15 58,509,875 (GRCm39) missense probably damaging 1.00
R7562:Fer1l6 UTSW 15 58,432,331 (GRCm39) missense probably benign 0.00
R7580:Fer1l6 UTSW 15 58,430,245 (GRCm39) missense probably benign 0.41
R7599:Fer1l6 UTSW 15 58,499,438 (GRCm39) missense probably benign
R7607:Fer1l6 UTSW 15 58,534,581 (GRCm39) nonsense probably null
R7677:Fer1l6 UTSW 15 58,474,139 (GRCm39) missense probably benign 0.00
R8202:Fer1l6 UTSW 15 58,502,486 (GRCm39) missense probably damaging 1.00
R8261:Fer1l6 UTSW 15 58,432,345 (GRCm39) missense possibly damaging 0.84
R8847:Fer1l6 UTSW 15 58,414,012 (GRCm39) missense possibly damaging 0.72
R9022:Fer1l6 UTSW 15 58,455,329 (GRCm39) missense probably damaging 0.99
R9030:Fer1l6 UTSW 15 58,502,594 (GRCm39) missense probably damaging 1.00
R9160:Fer1l6 UTSW 15 58,515,715 (GRCm39) missense possibly damaging 0.94
R9180:Fer1l6 UTSW 15 58,494,230 (GRCm39) missense probably benign 0.19
R9289:Fer1l6 UTSW 15 58,490,766 (GRCm39) missense probably damaging 1.00
R9559:Fer1l6 UTSW 15 58,429,759 (GRCm39) missense possibly damaging 0.88
R9562:Fer1l6 UTSW 15 58,490,370 (GRCm39) missense possibly damaging 0.70
R9682:Fer1l6 UTSW 15 58,422,113 (GRCm39) missense probably benign 0.03
R9775:Fer1l6 UTSW 15 58,497,098 (GRCm39) missense probably benign
X0021:Fer1l6 UTSW 15 58,441,051 (GRCm39) nonsense probably null
X0027:Fer1l6 UTSW 15 58,501,189 (GRCm39) missense probably damaging 1.00
X0063:Fer1l6 UTSW 15 58,490,423 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGTGACCCTCTGTACAAACCTTG -3'
(R):5'- TGTTTGGAAGAGAGGACACTTGGC -3'

Sequencing Primer
(F):5'- ATCCACTTTCTCAGAATAGGGTC -3'
(R):5'- CAATTGTCCTGAAAAAAGGCAAG -3'
Posted On 2013-05-23