Incidental Mutation 'R5917:Resf1'
ID 461391
Institutional Source Beutler Lab
Gene Symbol Resf1
Ensembl Gene ENSMUSG00000032712
Gene Name retroelement silencing factor 1
Synonyms 2810474O19Rik, GET
MMRRC Submission 044114-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5917 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 149210912-149237161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149236179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1500 (F1500L)
Ref Sequence ENSEMBL: ENSMUSP00000140026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046689] [ENSMUST00000100765] [ENSMUST00000189837] [ENSMUST00000189932]
AlphaFold Q5DTW7
Predicted Effect probably damaging
Transcript: ENSMUST00000046689
AA Change: F1500L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: F1500L

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100765
AA Change: F1500L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: F1500L

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189837
AA Change: F1498L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: F1498L

DomainStartEndE-ValueType
Pfam:DUF4617 451 1511 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189932
AA Change: F1500L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: F1500L

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,832,516 (GRCm39) R1153* probably null Het
Amdhd1 T C 10: 93,360,332 (GRCm39) H409R possibly damaging Het
Anks1b C T 10: 90,412,803 (GRCm39) probably benign Het
Ascc2 T C 11: 4,631,506 (GRCm39) L649P probably benign Het
Chst15 A G 7: 131,872,246 (GRCm39) F12L probably benign Het
Clec4a4 A T 6: 122,981,017 (GRCm39) K83N probably benign Het
Comp T A 8: 70,829,011 (GRCm39) probably null Het
Cryz T A 3: 154,327,403 (GRCm39) S144T probably benign Het
Ctss A G 3: 95,450,424 (GRCm39) D125G probably benign Het
Dact1 G T 12: 71,365,456 (GRCm39) V746L possibly damaging Het
Dhx29 A G 13: 113,099,377 (GRCm39) H1134R probably damaging Het
Dlgap4 A G 2: 156,546,460 (GRCm39) D376G probably damaging Het
Dnah3 T A 7: 119,615,749 (GRCm39) H1660L probably damaging Het
Ep300 T A 15: 81,512,808 (GRCm39) probably benign Het
Fbxo30 A T 10: 11,165,262 (GRCm39) probably null Het
Fcrl2 T A 3: 87,164,094 (GRCm39) H345L probably damaging Het
Galnt11 C A 5: 25,452,670 (GRCm39) probably null Het
Il31ra A G 13: 112,682,846 (GRCm39) C87R probably benign Het
Itga4 A T 2: 79,117,442 (GRCm39) Q416L probably damaging Het
Kcnt2 A T 1: 140,461,666 (GRCm39) T806S probably damaging Het
Lama2 A G 10: 27,066,693 (GRCm39) S1063P probably damaging Het
Lama4 T A 10: 38,924,028 (GRCm39) S479T probably benign Het
Lgi4 C T 7: 30,759,603 (GRCm39) T53M possibly damaging Het
Limk1 A G 5: 134,686,789 (GRCm39) F533L probably damaging Het
Loxl1 A G 9: 58,220,006 (GRCm39) L55P probably damaging Het
Map1a A G 2: 121,135,697 (GRCm39) E1933G probably damaging Het
Matn2 T A 15: 34,409,912 (GRCm39) C447* probably null Het
Mmrn1 T C 6: 60,950,134 (GRCm39) probably null Het
Or2a7 C T 6: 43,151,646 (GRCm39) S242F probably damaging Het
Or4a66 A T 2: 88,531,049 (GRCm39) I208N possibly damaging Het
Or4d1 A T 11: 87,805,215 (GRCm39) N172K probably damaging Het
Otor A G 2: 142,920,431 (GRCm39) I4M probably benign Het
P2rx3 A T 2: 84,865,591 (GRCm39) V18E probably damaging Het
Pcdh7 T C 5: 57,879,097 (GRCm39) V884A probably damaging Het
Pcdhb4 T A 18: 37,442,619 (GRCm39) V643D probably damaging Het
Pelo A G 13: 115,225,930 (GRCm39) S176P possibly damaging Het
Ppp2r3d A T 9: 101,089,183 (GRCm39) V380E probably benign Het
Proc T A 18: 32,260,513 (GRCm39) D204V probably benign Het
Prpsap2 C T 11: 61,627,870 (GRCm39) R202H probably damaging Het
Rtl1 T G 12: 109,558,087 (GRCm39) T1251P possibly damaging Het
Sema6a T G 18: 47,414,405 (GRCm39) I482L probably benign Het
Smpdl3a T A 10: 57,681,654 (GRCm39) probably null Het
Strc T A 2: 121,209,790 (GRCm39) M178L probably benign Het
Taok1 A T 11: 77,451,144 (GRCm39) M312K probably damaging Het
Tle2 T C 10: 81,416,750 (GRCm39) probably null Het
Tle3 A G 9: 61,316,190 (GRCm39) D296G probably benign Het
Trank1 A G 9: 111,191,485 (GRCm39) D498G probably benign Het
Vars1 C A 17: 35,231,491 (GRCm39) L672M probably damaging Het
Vps13d G A 4: 144,826,580 (GRCm39) T2866I probably damaging Het
Zfp423 C A 8: 88,508,860 (GRCm39) E370* probably null Het
Zfp521 T A 18: 13,978,612 (GRCm39) K600N probably damaging Het
Zfp788 A G 7: 41,298,572 (GRCm39) K351E probably benign Het
Zfp963 A T 8: 70,195,510 (GRCm39) probably null Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably 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
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
R6972:Resf1 UTSW 6 149,227,607 (GRCm39) missense probably damaging 0.99
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'- ACAGATACTGTACATTTTGTCTCAC -3'
(R):5'- AGCAGCTAATCCAACATTTCAGTC -3'

Sequencing Primer
(F):5'- ACATTTTGTCTCACTTCTGATTGTTG -3'
(R):5'- CTATACAGGAACTCCTTGGCTGAG -3'
Posted On 2017-02-28