Incidental Mutation 'R6972:Resf1'
ID 542296
Institutional Source Beutler Lab
Gene Symbol Resf1
Ensembl Gene ENSMUSG00000032712
Gene Name retroelement silencing factor 1
Synonyms 2810474O19Rik, GET
MMRRC Submission 045082-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6972 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 149210912-149237161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 149227607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 218 (Y218N)
Ref Sequence ENSEMBL: ENSMUSP00000139624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046689] [ENSMUST00000100765] [ENSMUST00000127680] [ENSMUST00000130664] [ENSMUST00000185930] [ENSMUST00000187881] [ENSMUST00000189837] [ENSMUST00000189932] [ENSMUST00000190785]
AlphaFold Q5DTW7
Predicted Effect probably damaging
Transcript: ENSMUST00000046689
AA Change: Y218N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: Y218N

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100765
AA Change: Y218N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: Y218N

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127680
Predicted Effect probably damaging
Transcript: ENSMUST00000130664
AA Change: Y218N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000185930
Predicted Effect probably benign
Transcript: ENSMUST00000187881
Predicted Effect probably damaging
Transcript: ENSMUST00000189837
AA Change: Y218N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: Y218N

DomainStartEndE-ValueType
Pfam:DUF4617 451 1511 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189932
AA Change: Y218N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: Y218N

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190785
AA Change: Y218N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: Y218N

DomainStartEndE-ValueType
Pfam:DUF4617 451 1173 9.4e-255 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 95.8%
Validation Efficiency 100% (41/41)
Allele List at MGI

All alleles(126) : Targeted, knock-out(1) Gene trapped(125)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 A G 7: 79,003,775 (GRCm39) S285G probably benign Het
Afg1l T C 10: 42,354,370 (GRCm39) T10A probably benign Het
Akap9 A G 5: 4,096,699 (GRCm39) N2525D possibly damaging Het
B3gnt7 G A 1: 86,233,109 (GRCm39) M1I probably null Het
Bdp1 T C 13: 100,174,269 (GRCm39) E2089G probably null Het
Calcrl T G 2: 84,198,922 (GRCm39) I156L probably benign Het
Cd69 T C 6: 129,246,543 (GRCm39) S122G probably benign Het
Chek2 T C 5: 111,003,705 (GRCm39) probably null Het
Ckap5 T A 2: 91,436,658 (GRCm39) I1586K probably damaging Het
Cyp4f14 C T 17: 33,124,483 (GRCm39) A523T probably benign Het
Dcaf1 T A 9: 106,723,971 (GRCm39) C466* probably null Het
Dcdc2a A T 13: 25,304,372 (GRCm39) probably benign Het
Eml5 T C 12: 98,842,439 (GRCm39) I220V probably benign Het
Etv2 T C 7: 30,334,167 (GRCm39) N189D probably benign Het
Fuz T C 7: 44,546,755 (GRCm39) probably benign Het
Git1 T G 11: 77,390,347 (GRCm39) V64G probably damaging Het
Gpr162 C T 6: 124,838,272 (GRCm39) R126H probably damaging Het
Grm5 T C 7: 87,252,131 (GRCm39) V127A probably benign Het
Iqsec1 T C 6: 90,653,750 (GRCm39) D665G probably damaging Het
Kcnh1 A G 1: 191,959,144 (GRCm39) I233V probably damaging Het
Lmcd1 C T 6: 112,287,659 (GRCm39) T115I probably damaging Het
Mybpc1 T C 10: 88,396,223 (GRCm39) E208G possibly damaging Het
Nfic C A 10: 81,256,191 (GRCm39) A158S probably benign Het
Nos3 A T 5: 24,585,241 (GRCm39) I798L probably benign Het
Ntrk1 A T 3: 87,691,288 (GRCm39) L292Q probably damaging Het
Or2ag16 A G 7: 106,351,906 (GRCm39) S230P possibly damaging Het
Orc4 T C 2: 48,817,196 (GRCm39) Q164R probably benign Het
Pcdhb14 T A 18: 37,582,745 (GRCm39) V617E probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plscr3 G A 11: 69,738,784 (GRCm39) E149K probably damaging Het
Pltp A G 2: 164,688,512 (GRCm39) probably null Het
Pramel11 A G 4: 143,623,472 (GRCm39) L234P probably damaging Het
Prg2 G A 2: 84,812,617 (GRCm39) R109H probably benign Het
Ptprj G A 2: 90,410,747 (GRCm39) S62F possibly damaging Het
Skint3 T A 4: 112,116,089 (GRCm39) S240T probably damaging Het
Smarca5 A G 8: 81,431,380 (GRCm39) Y946H probably damaging Het
Taf4b T C 18: 14,946,404 (GRCm39) V409A possibly damaging Het
Tafa2 A G 10: 123,540,278 (GRCm39) T45A probably benign Het
Trim29 T A 9: 43,238,409 (GRCm39) N504K probably benign Het
Vmn2r77 T C 7: 86,452,202 (GRCm39) Y461H probably damaging Het
Zeb2 T C 2: 44,887,330 (GRCm39) K531E probably damaging Het
Zfp687 A G 3: 94,916,688 (GRCm39) S813P possibly damaging Het
Other mutations in Resf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Resf1 APN 6 149,236,248 (GRCm39) utr 3 prime probably benign
IGL01401:Resf1 APN 6 149,228,394 (GRCm39) missense probably damaging 0.98
IGL01461:Resf1 APN 6 149,233,013 (GRCm39) unclassified probably benign
IGL01610:Resf1 APN 6 149,230,449 (GRCm39) missense probably benign 0.01
IGL02873:Resf1 APN 6 149,228,538 (GRCm39) missense probably damaging 1.00
IGL03202:Resf1 APN 6 149,227,937 (GRCm39) missense probably benign 0.08
grand_junction UTSW 6 149,229,376 (GRCm39) missense probably damaging 0.98
grand_marais UTSW 6 149,227,958 (GRCm39) nonsense probably null
3-1:Resf1 UTSW 6 149,229,227 (GRCm39) missense probably damaging 0.98
B6584:Resf1 UTSW 6 149,230,844 (GRCm39) missense probably damaging 0.96
PIT4280001:Resf1 UTSW 6 149,227,023 (GRCm39) missense probably benign 0.23
R0053:Resf1 UTSW 6 149,229,088 (GRCm39) missense probably benign 0.00
R0053:Resf1 UTSW 6 149,229,088 (GRCm39) missense probably benign 0.00
R0243:Resf1 UTSW 6 149,227,739 (GRCm39) missense probably damaging 1.00
R0620:Resf1 UTSW 6 149,229,873 (GRCm39) missense probably damaging 1.00
R0633:Resf1 UTSW 6 149,227,199 (GRCm39) missense probably benign 0.00
R0727:Resf1 UTSW 6 149,227,320 (GRCm39) missense possibly damaging 0.94
R0904:Resf1 UTSW 6 149,229,767 (GRCm39) missense probably damaging 0.99
R1221:Resf1 UTSW 6 149,227,719 (GRCm39) missense probably benign 0.24
R1282:Resf1 UTSW 6 149,230,670 (GRCm39) nonsense probably null
R1435:Resf1 UTSW 6 149,227,580 (GRCm39) missense probably benign 0.04
R1452:Resf1 UTSW 6 149,228,130 (GRCm39) missense probably damaging 1.00
R1587:Resf1 UTSW 6 149,228,018 (GRCm39) missense probably damaging 1.00
R1912:Resf1 UTSW 6 149,230,342 (GRCm39) missense possibly damaging 0.80
R1926:Resf1 UTSW 6 149,230,902 (GRCm39) missense probably benign 0.39
R1978:Resf1 UTSW 6 149,227,930 (GRCm39) missense probably benign 0.12
R2035:Resf1 UTSW 6 149,230,724 (GRCm39) missense possibly damaging 0.91
R2136:Resf1 UTSW 6 149,230,320 (GRCm39) missense probably benign 0.01
R2333:Resf1 UTSW 6 149,229,009 (GRCm39) missense probably damaging 1.00
R2360:Resf1 UTSW 6 149,236,145 (GRCm39) missense probably benign 0.05
R3027:Resf1 UTSW 6 149,230,533 (GRCm39) missense probably benign 0.02
R3121:Resf1 UTSW 6 149,230,741 (GRCm39) nonsense probably null
R3707:Resf1 UTSW 6 149,230,611 (GRCm39) missense probably damaging 0.98
R4204:Resf1 UTSW 6 149,231,042 (GRCm39) nonsense probably null
R4247:Resf1 UTSW 6 149,227,041 (GRCm39) missense possibly damaging 0.87
R4249:Resf1 UTSW 6 149,227,041 (GRCm39) missense possibly damaging 0.87
R4304:Resf1 UTSW 6 149,227,736 (GRCm39) nonsense probably null
R4385:Resf1 UTSW 6 149,227,706 (GRCm39) missense possibly damaging 0.93
R4702:Resf1 UTSW 6 149,230,901 (GRCm39) missense probably benign 0.05
R4747:Resf1 UTSW 6 149,228,392 (GRCm39) missense probably damaging 0.96
R4912:Resf1 UTSW 6 149,230,887 (GRCm39) missense probably damaging 1.00
R4913:Resf1 UTSW 6 149,230,887 (GRCm39) missense probably damaging 1.00
R4965:Resf1 UTSW 6 149,229,896 (GRCm39) nonsense probably null
R4971:Resf1 UTSW 6 149,227,097 (GRCm39) unclassified probably benign
R5077:Resf1 UTSW 6 149,227,528 (GRCm39) missense probably benign 0.14
R5213:Resf1 UTSW 6 149,227,551 (GRCm39) missense possibly damaging 0.77
R5382:Resf1 UTSW 6 149,227,958 (GRCm39) nonsense probably null
R5418:Resf1 UTSW 6 149,227,634 (GRCm39) missense probably damaging 1.00
R5452:Resf1 UTSW 6 149,230,611 (GRCm39) nonsense probably null
R5498:Resf1 UTSW 6 149,229,738 (GRCm39) missense probably damaging 0.99
R5673:Resf1 UTSW 6 149,229,491 (GRCm39) nonsense probably null
R5690:Resf1 UTSW 6 149,229,735 (GRCm39) missense possibly damaging 0.95
R5916:Resf1 UTSW 6 149,228,076 (GRCm39) missense probably damaging 0.99
R5917:Resf1 UTSW 6 149,236,179 (GRCm39) missense probably damaging 0.98
R6160:Resf1 UTSW 6 149,233,005 (GRCm39) critical splice donor site probably null
R6280:Resf1 UTSW 6 149,228,555 (GRCm39) missense probably damaging 1.00
R6326:Resf1 UTSW 6 149,230,493 (GRCm39) missense probably damaging 0.96
R6396:Resf1 UTSW 6 149,229,417 (GRCm39) missense probably damaging 1.00
R6702:Resf1 UTSW 6 149,229,376 (GRCm39) missense probably damaging 0.98
R7127:Resf1 UTSW 6 149,229,443 (GRCm39) missense possibly damaging 0.95
R7168:Resf1 UTSW 6 149,229,341 (GRCm39) missense probably benign
R7316:Resf1 UTSW 6 149,228,136 (GRCm39) missense probably damaging 0.99
R7586:Resf1 UTSW 6 149,228,291 (GRCm39) missense possibly damaging 0.76
R7719:Resf1 UTSW 6 149,228,853 (GRCm39) missense probably benign
R7751:Resf1 UTSW 6 149,226,936 (GRCm39) start gained probably benign
R8013:Resf1 UTSW 6 149,230,368 (GRCm39) missense probably damaging 0.96
R8358:Resf1 UTSW 6 149,228,076 (GRCm39) missense probably damaging 0.99
R8393:Resf1 UTSW 6 149,229,998 (GRCm39) missense possibly damaging 0.56
R8968:Resf1 UTSW 6 149,228,664 (GRCm39) missense probably damaging 0.96
R8977:Resf1 UTSW 6 149,229,906 (GRCm39) missense probably damaging 0.99
R8981:Resf1 UTSW 6 149,227,997 (GRCm39) missense probably benign 0.06
R9106:Resf1 UTSW 6 149,230,368 (GRCm39) missense possibly damaging 0.77
R9208:Resf1 UTSW 6 149,228,027 (GRCm39) missense probably damaging 0.99
R9294:Resf1 UTSW 6 149,227,930 (GRCm39) missense probably benign 0.12
R9352:Resf1 UTSW 6 149,236,180 (GRCm39) missense probably damaging 1.00
R9361:Resf1 UTSW 6 149,228,132 (GRCm39) missense possibly damaging 0.70
R9513:Resf1 UTSW 6 149,229,793 (GRCm39) nonsense probably null
R9566:Resf1 UTSW 6 149,227,352 (GRCm39) missense possibly damaging 0.91
R9623:Resf1 UTSW 6 149,226,965 (GRCm39) missense possibly damaging 0.91
R9689:Resf1 UTSW 6 149,229,766 (GRCm39) nonsense probably null
R9752:Resf1 UTSW 6 149,228,068 (GRCm39) missense probably benign 0.07
R9794:Resf1 UTSW 6 149,228,239 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCACCACAGAATCAGCTTG -3'
(R):5'- AGAAACAGGCTGAGCATTCTGC -3'

Sequencing Primer
(F):5'- GAATCAGCTTGTCACATCAGATAC -3'
(R):5'- AGGCTGAGCATTCTGCACATG -3'
Posted On 2018-11-28