Incidental Mutation 'R5077:Resf1'
ID 401935
Institutional Source Beutler Lab
Gene Symbol Resf1
Ensembl Gene ENSMUSG00000032712
Gene Name retroelement silencing factor 1
Synonyms 2810474O19Rik, GET
MMRRC Submission 042666-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5077 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 149210912-149237161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 149227528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 191 (S191R)
Ref Sequence ENSEMBL: ENSMUSP00000115573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046689] [ENSMUST00000100765] [ENSMUST00000127680] [ENSMUST00000130664] [ENSMUST00000185930] [ENSMUST00000187881] [ENSMUST00000189837] [ENSMUST00000189932] [ENSMUST00000190785]
AlphaFold Q5DTW7
Predicted Effect probably benign
Transcript: ENSMUST00000046689
AA Change: S191R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: S191R

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100765
AA Change: S191R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: S191R

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127680
Predicted Effect probably benign
Transcript: ENSMUST00000130664
AA Change: S191R

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000185930
Predicted Effect probably benign
Transcript: ENSMUST00000187881
Predicted Effect probably benign
Transcript: ENSMUST00000189837
AA Change: S191R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: S191R

DomainStartEndE-ValueType
Pfam:DUF4617 451 1511 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189932
AA Change: S191R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: S191R

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190785
AA Change: S191R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: S191R

DomainStartEndE-ValueType
Pfam:DUF4617 451 1173 9.4e-255 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 93% (51/55)
Allele List at MGI

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

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A G 8: 44,080,200 (GRCm39) V8A possibly damaging Het
Agbl4 A T 4: 111,423,939 (GRCm39) M322L probably benign Het
Ankrd55 A G 13: 112,492,522 (GRCm39) K231R probably benign Het
Asap1 A C 15: 63,999,272 (GRCm39) M534R probably damaging Het
B4galnt2 T A 11: 95,767,140 (GRCm39) probably benign Het
Cacna1e A T 1: 154,437,475 (GRCm39) probably null Het
Cacna1h T C 17: 25,594,224 (GRCm39) I2311M probably benign Het
Capn2 G T 1: 182,300,138 (GRCm39) D617E possibly damaging Het
Catsper1 A G 19: 5,385,998 (GRCm39) D77G probably damaging Het
Cdc42bpa A T 1: 179,922,098 (GRCm39) probably benign Het
Cdca8 T C 4: 124,820,470 (GRCm39) K109E probably damaging Het
Dbx1 A G 7: 49,283,242 (GRCm39) S223P probably damaging Het
Dlg4 A G 11: 69,917,852 (GRCm39) N45S possibly damaging Het
Dlgap2 T G 8: 14,872,691 (GRCm39) V723G probably benign Het
Efl1 C A 7: 82,307,295 (GRCm39) Q64K probably damaging Het
Eml1 T A 12: 108,472,871 (GRCm39) probably benign Het
Fbxw16 A G 9: 109,270,117 (GRCm39) probably null Het
Gm10800 A T 2: 98,497,379 (GRCm39) L80M probably benign Het
H4c16 A G 6: 136,781,113 (GRCm39) Y89H probably benign Het
Insig2 A T 1: 121,239,964 (GRCm39) V112E probably damaging Het
Kcnip3 A G 2: 127,307,797 (GRCm39) S123P probably damaging Het
Map3k9 T C 12: 81,780,851 (GRCm39) probably null Het
Myo16 T C 8: 10,372,658 (GRCm39) V119A probably damaging Het
Naa25 G A 5: 121,562,639 (GRCm39) V474M probably benign Het
Nckap1 A T 2: 80,379,277 (GRCm39) V219E probably damaging Het
Niban1 A G 1: 151,590,274 (GRCm39) I523V probably benign Het
Nrp1 G T 8: 129,227,154 (GRCm39) probably null Het
Nsun4 A T 4: 115,905,781 (GRCm39) D58E probably benign Het
Obscn G T 11: 58,934,883 (GRCm39) A5249D probably damaging Het
Or8k53 A T 2: 86,177,683 (GRCm39) H142Q probably benign Het
Osmr A T 15: 6,873,874 (GRCm39) Y174* probably null Het
Pi4k2a T C 19: 42,108,275 (GRCm39) probably null Het
Pram1 C T 17: 33,863,878 (GRCm39) Q572* probably null Het
Prdm5 C A 6: 65,756,158 (GRCm39) T25K probably damaging Het
Psen1 T C 12: 83,771,439 (GRCm39) Y240H probably damaging Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rbck1 A C 2: 152,160,371 (GRCm39) M436R probably benign Het
Rmnd1 T C 10: 4,377,488 (GRCm39) N64D possibly damaging Het
Rsph4a A G 10: 33,784,275 (GRCm39) D299G probably damaging Het
Sema4c T C 1: 36,590,812 (GRCm39) S480G probably benign Het
Srp68 T C 11: 116,136,638 (GRCm39) D552G probably damaging Het
Syde2 G T 3: 145,707,764 (GRCm39) A568S probably damaging Het
Szrd1 G T 4: 140,867,092 (GRCm39) probably null Het
Szt2 A T 4: 118,226,813 (GRCm39) probably null Het
Tbc1d31 A G 15: 57,818,797 (GRCm39) E800G probably benign Het
Tmprss11d C A 5: 86,457,122 (GRCm39) probably null Het
Usp37 A G 1: 74,480,720 (GRCm39) V895A probably damaging Het
Vmn1r19 T C 6: 57,382,026 (GRCm39) I193T probably benign Het
Vmn2r102 T C 17: 19,897,834 (GRCm39) V283A probably benign Het
Vps13d C T 4: 144,814,811 (GRCm39) G3180D probably damaging Het
Xirp2 A C 2: 67,344,821 (GRCm39) D2354A probably benign Het
Zc3h14 T A 12: 98,723,465 (GRCm39) probably null 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
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
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'- TTGCCTTCCCATACAGAAGC -3'
(R):5'- CAGAGAGTCTTTTGCTGGCTTC -3'

Sequencing Primer
(F):5'- GAAGCAACCATATCTCATAATCCCG -3'
(R):5'- CAGAATGCTTTGACTGTAAGCTCTG -3'
Posted On 2016-07-22