Incidental Mutation 'R5916:Resf1'
ID 461324
Institutional Source Beutler Lab
Gene Symbol Resf1
Ensembl Gene ENSMUSG00000032712
Gene Name retroelement silencing factor 1
Synonyms 2810474O19Rik, GET
MMRRC Submission 044113-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5916 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 149210912-149237161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 149228076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 374 (T374I)
Ref Sequence ENSEMBL: ENSMUSP00000140026 (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: T374I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: T374I

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100765
AA Change: T374I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: T374I

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127680
Predicted Effect probably damaging
Transcript: ENSMUST00000130664
AA Change: T374I

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: T374I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: T374I

DomainStartEndE-ValueType
Pfam:DUF4617 451 1511 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189932
AA Change: T374I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: T374I

DomainStartEndE-ValueType
Pfam:DUF4617 451 1513 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190785
AA Change: T374I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: T374I

DomainStartEndE-ValueType
Pfam:DUF4617 451 1173 9.4e-255 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.2%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,349,550 (GRCm39) N269I possibly damaging Het
Abcc1 G T 16: 14,283,006 (GRCm39) V1161F possibly damaging Het
Adam3 A T 8: 25,174,555 (GRCm39) probably null Het
Agt A T 8: 125,290,597 (GRCm39) S237T possibly damaging Het
Ano3 A T 2: 110,512,181 (GRCm39) F674L probably benign Het
Asb2 G T 12: 103,290,135 (GRCm39) A504E probably damaging Het
Atp13a1 T A 8: 70,259,748 (GRCm39) I1113N probably damaging Het
Atxn7l2 T C 3: 108,112,978 (GRCm39) probably null Het
Bambi A G 18: 3,511,463 (GRCm39) T95A probably benign Het
Cfap210 A T 2: 69,619,806 (GRCm39) M1K probably null Het
Clrn1 T C 3: 58,753,783 (GRCm39) T193A probably benign Het
Colgalt2 T A 1: 152,379,873 (GRCm39) D437E probably damaging Het
Dchs1 C A 7: 105,408,373 (GRCm39) A1820S probably damaging Het
Dnah12 T A 14: 26,428,073 (GRCm39) I233N possibly damaging Het
Dsc3 T C 18: 20,120,077 (GRCm39) N194D probably damaging Het
Dync2h1 A G 9: 7,102,309 (GRCm39) probably null Het
Erich3 A T 3: 154,401,460 (GRCm39) R36S probably damaging Het
Fam243 T A 16: 92,117,559 (GRCm39) E243V probably damaging Het
Fmnl3 A T 15: 99,219,709 (GRCm39) C680S probably damaging Het
Focad T C 4: 88,275,778 (GRCm39) L1129P unknown Het
Fzd3 G A 14: 65,440,178 (GRCm39) T664I probably benign Het
Glb1l3 T C 9: 26,766,032 (GRCm39) I129V probably benign Het
Heatr1 T C 13: 12,449,352 (GRCm39) F1950S probably damaging Het
Herc6 G A 6: 57,623,188 (GRCm39) G597E probably benign Het
Hmcn2 T A 2: 31,286,151 (GRCm39) V2101D probably damaging Het
Il17re T A 6: 113,447,084 (GRCm39) C612S probably damaging Het
Il36g T G 2: 24,082,806 (GRCm39) *194E probably null Het
Junb T C 8: 85,704,505 (GRCm39) Y185C probably benign Het
Lrriq1 G A 10: 103,057,243 (GRCm39) Q186* probably null Het
Lrrn2 T A 1: 132,865,538 (GRCm39) V201E probably damaging Het
Ly6l A T 15: 75,323,027 (GRCm39) T68S probably benign Het
Marchf1 G T 8: 66,839,763 (GRCm39) R182L possibly damaging Het
Megf6 A G 4: 154,333,882 (GRCm39) probably null Het
Mga T A 2: 119,794,793 (GRCm39) S2708T probably benign Het
Mx1 T C 16: 97,252,933 (GRCm39) T396A probably benign Het
Naip5 A C 13: 100,359,209 (GRCm39) S676A probably benign Het
Npepl1 G T 2: 173,963,337 (GRCm39) W456C probably benign Het
Ntrk2 A G 13: 58,956,543 (GRCm39) M1V probably null Het
Nufip1 T C 14: 76,372,340 (GRCm39) *485Q probably null Het
Ocln T G 13: 100,642,687 (GRCm39) D216A possibly damaging Het
Or10x1 A T 1: 174,196,698 (GRCm39) T72S probably damaging Het
Or1o11 C T 17: 37,756,570 (GRCm39) L53F probably benign Het
Or4f57 A G 2: 111,791,175 (GRCm39) M81T probably damaging Het
Or55b4 G A 7: 102,133,586 (GRCm39) S247F probably damaging Het
Ptprq A T 10: 107,359,374 (GRCm39) M2243K probably damaging Het
Rad51b C T 12: 79,371,856 (GRCm39) Q190* probably null Het
Rfx8 T C 1: 39,727,779 (GRCm39) Y182C probably benign Het
Rpgrip1l C A 8: 91,979,541 (GRCm39) R967L possibly damaging Het
Scube2 A G 7: 109,430,931 (GRCm39) Y423H possibly damaging Het
Sipa1l2 A T 8: 126,195,312 (GRCm39) Y809N probably damaging Het
Slc35f1 C A 10: 52,809,317 (GRCm39) Y101* probably null Het
Tbc1d22a A G 15: 86,098,809 (GRCm39) K12E possibly damaging Het
Tent2 T C 13: 93,312,055 (GRCm39) D215G probably damaging Het
Tmcc2 C T 1: 132,285,429 (GRCm39) V646M probably damaging Het
Tpp1 A T 7: 105,398,587 (GRCm39) M243K probably damaging Het
Trappc12 A G 12: 28,741,513 (GRCm39) L732P probably damaging Het
U2af2 A T 7: 5,082,179 (GRCm39) probably null Het
Utrn T A 10: 12,540,795 (GRCm39) N1877Y probably damaging Het
Vsir C T 10: 60,193,816 (GRCm39) T93I probably damaging Het
Zkscan5 T A 5: 145,142,112 (GRCm39) M3K possibly damaging 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
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'- TTTAAGCAGCAGTGGCAGAAC -3'
(R):5'- GTTGCTAGCAATTCCATGGAAC -3'

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