Incidental Mutation 'R9352:Resf1'
ID 708127
Institutional Source Beutler Lab
Gene Symbol Resf1
Ensembl Gene ENSMUSG00000032712
Gene Name retroelement silencing factor 1
Synonyms 2810474O19Rik, GET
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9352 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 149210912-149237161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149236180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1500 (F1500S)
Ref Sequence ENSEMBL: ENSMUSP00000041180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046689] [ENSMUST00000100765] [ENSMUST00000189837] [ENSMUST00000189932]
AlphaFold Q5DTW7
Predicted Effect probably damaging
Transcript: ENSMUST00000046689
AA Change: F1500S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: F1500S

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100765
AA Change: F1500S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: F1500S

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189837
AA Change: F1498S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: F1498S

DomainStartEndE-ValueType
Pfam:DUF4617 451 1511 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189932
AA Change: F1500S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: F1500S

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A T 7: 82,091,656 (GRCm39) Q123L probably damaging Het
Adarb2 T A 13: 8,807,428 (GRCm39) L743Q probably damaging Het
Alpk2 C A 18: 65,439,783 (GRCm39) D537Y probably benign Het
Anxa4 C T 6: 86,742,775 (GRCm39) probably benign Het
Arfgap3 T A 15: 83,191,127 (GRCm39) I464L possibly damaging Het
Asb2 C T 12: 103,296,698 (GRCm39) V320I probably damaging Het
Axl T C 7: 25,462,752 (GRCm39) T659A possibly damaging Het
Bbof1 A G 12: 84,461,394 (GRCm39) H139R probably benign Het
Birc6 G A 17: 74,965,347 (GRCm39) probably null Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Chil3 A T 3: 106,067,787 (GRCm39) F126Y probably damaging Het
Chrnb4 T A 9: 54,951,167 (GRCm39) D32V probably benign Het
Chst15 C A 7: 131,872,257 (GRCm39) C8F probably damaging Het
Cntnap5c A G 17: 58,399,463 (GRCm39) I439V probably benign Het
Crisp2 T A 17: 41,078,200 (GRCm39) N194I probably damaging Het
Csrnp1 G A 9: 119,801,997 (GRCm39) T354M probably benign Het
Cul1 T A 6: 47,479,426 (GRCm39) S231T probably benign Het
Cyp27a1 C T 1: 74,752,920 (GRCm39) T44M possibly damaging Het
Dgkg T C 16: 22,398,581 (GRCm39) D232G probably damaging Het
Dnah1 G T 14: 31,038,620 (GRCm39) Q154K probably benign Het
Dnmt1 A G 9: 20,840,384 (GRCm39) V304A probably benign Het
Dok6 T C 18: 89,492,133 (GRCm39) N148S probably benign Het
Fnta A T 8: 26,501,119 (GRCm39) W134R probably damaging Het
Garin5b T A 7: 4,761,605 (GRCm39) Y369F Het
Gm32742 T G 9: 51,052,544 (GRCm39) Q1441P possibly damaging Het
Gm3486 T C 14: 41,208,318 (GRCm39) Q131R possibly damaging Het
Gnptab A G 10: 88,268,350 (GRCm39) N486D probably benign Het
H2-Q4 T G 17: 35,601,909 (GRCm39) F257C probably damaging Het
Hfe A G 13: 23,890,119 (GRCm39) V218A probably benign Het
Htr2b A G 1: 86,027,294 (GRCm39) V404A probably benign Het
Hyou1 T A 9: 44,300,926 (GRCm39) probably null Het
Ikbkb T C 8: 23,150,444 (GRCm39) D746G probably benign Het
Ikzf4 T C 10: 128,472,623 (GRCm39) N251S probably benign Het
Il23r A C 6: 67,403,592 (GRCm39) N436K probably damaging Het
Impg2 A T 16: 56,072,470 (GRCm39) I301L probably benign Het
Irf4 A T 13: 30,936,706 (GRCm39) M146L probably benign Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Kctd3 T C 1: 188,704,777 (GRCm39) S665G probably damaging Het
Kiz T C 2: 146,794,927 (GRCm39) S596P probably damaging Het
Kpna2 T C 11: 106,880,292 (GRCm39) E452G probably damaging Het
Lclat1 A G 17: 73,468,937 (GRCm39) Y39C probably damaging Het
Lig3 A G 11: 82,686,971 (GRCm39) S705G probably benign Het
Lrp1b T C 2: 40,748,438 (GRCm39) D3134G Het
Map3k8 C T 18: 4,349,170 (GRCm39) M49I probably benign Het
Mep1b A G 18: 21,209,431 (GRCm39) D54G probably damaging Het
Mgat5b T A 11: 116,857,533 (GRCm39) S342R probably benign Het
Mthfd2l G T 5: 91,109,172 (GRCm39) V201L possibly damaging Het
Naip6 G T 13: 100,437,893 (GRCm39) T371K possibly damaging Het
Naxd T C 8: 11,555,504 (GRCm39) I104T probably damaging Het
Nbeal2 T A 9: 110,456,916 (GRCm39) I2361F probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or1e17 A G 11: 73,831,470 (GRCm39) T133A probably benign Het
Or6c75 A T 10: 129,337,364 (GRCm39) M196L probably benign Het
Or8b8 A G 9: 37,808,712 (GRCm39) E4G probably benign Het
Or8c16 T G 9: 38,130,683 (GRCm39) L185R probably damaging Het
Pga5 C T 19: 10,646,897 (GRCm39) G303S probably damaging Het
Polq T C 16: 36,862,252 (GRCm39) F591L probably damaging Het
Ppp2r1a A T 17: 21,185,499 (GRCm39) probably null Het
Prrc1 A G 18: 57,522,317 (GRCm39) Y383C probably damaging Het
Ptgfr A T 3: 151,541,160 (GRCm39) V116D probably damaging Het
Qpctl C T 7: 18,878,599 (GRCm39) R292Q possibly damaging Het
Rasip1 G A 7: 45,278,280 (GRCm39) V194M possibly damaging Het
Rbbp4 A T 4: 129,211,498 (GRCm39) N385K probably benign Het
Rbbp8nl A G 2: 179,921,053 (GRCm39) S444P probably benign Het
Sf3a1 G A 11: 4,110,494 (GRCm39) A3T unknown Het
Slc1a4 A G 11: 20,282,025 (GRCm39) S150P probably damaging Het
Slc28a2 T C 2: 122,281,522 (GRCm39) probably null Het
Slc30a5 A G 13: 100,940,380 (GRCm39) I702T probably benign Het
Slc36a4 T A 9: 15,633,319 (GRCm39) probably null Het
Slf2 A G 19: 44,931,957 (GRCm39) R671G probably null Het
Smarcc1 A G 9: 110,035,220 (GRCm39) K881R probably null Het
Srsf11 A G 3: 157,717,836 (GRCm39) V414A unknown Het
Tcn2 T C 11: 3,873,446 (GRCm39) N300S probably damaging Het
Tecta T C 9: 42,249,147 (GRCm39) K1905R probably damaging Het
Tex30 T G 1: 44,130,753 (GRCm39) probably null Het
Tktl2 A T 8: 66,965,974 (GRCm39) I511F possibly damaging Het
Tpp1 G T 7: 105,398,881 (GRCm39) Q183K probably benign Het
Trib2 A C 12: 15,865,413 (GRCm39) I30R probably benign Het
Tti1 A G 2: 157,842,692 (GRCm39) L779P probably benign Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Unc13b GAGCCA GAGCCATAGCCA 4: 43,177,313 (GRCm39) probably null Het
Vmn2r112 A G 17: 22,822,479 (GRCm39) T386A probably damaging Het
Vps16 T C 2: 130,283,823 (GRCm39) probably null Het
Zan T G 5: 137,434,745 (GRCm39) N2186T unknown Het
Zdhhc11 C T 13: 74,121,800 (GRCm39) R104* probably null Het
Zfp318 T G 17: 46,721,284 (GRCm39) H1176Q probably damaging Het
Zfp335 G A 2: 164,742,242 (GRCm39) H581Y probably damaging Het
Zfp7 T C 15: 76,775,674 (GRCm39) I572T probably damaging Het
Zfp955a T C 17: 33,461,335 (GRCm39) T266A probably benign 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
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
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'- AGCAGCTAATCCAACATTTCAG -3'

Sequencing Primer
(F):5'- ACATTTTGTCTCACTTCTGATTGTTG -3'
(R):5'- CTATACAGGAACTCCTTGGCTGAG -3'
Posted On 2022-04-18