Incidental Mutation 'R7413:Rlf'
ID 575211
Institutional Source Beutler Lab
Gene Symbol Rlf
Ensembl Gene ENSMUSG00000049878
Gene Name rearranged L-myc fusion sequence
Synonyms 9230110M18Rik, MommeD8
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7413 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 121003080-121072318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121007297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 671 (G671D)
Ref Sequence ENSEMBL: ENSMUSP00000050825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056635] [ENSMUST00000168615]
AlphaFold A2A7F4
Predicted Effect probably damaging
Transcript: ENSMUST00000056635
AA Change: G671D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: G671D

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
low complexity region 129 149 N/A INTRINSIC
low complexity region 298 309 N/A INTRINSIC
ZnF_C2H2 554 575 1.27e2 SMART
ZnF_C2H2 581 603 1.08e-1 SMART
ZnF_C2H2 667 692 5.42e-2 SMART
ZnF_C2H2 710 732 8.09e-1 SMART
ZnF_C2H2 738 762 3.99e0 SMART
ZnF_C2H2 767 791 3.16e-3 SMART
ZnF_C2H2 797 821 1.18e-2 SMART
low complexity region 885 909 N/A INTRINSIC
ZnF_C2H2 949 974 2.57e-3 SMART
low complexity region 1055 1066 N/A INTRINSIC
ZnF_C2H2 1122 1147 5.9e-3 SMART
ZnF_C2H2 1167 1190 4.17e-3 SMART
low complexity region 1259 1285 N/A INTRINSIC
ZnF_C2H2 1303 1328 5.06e-2 SMART
ZnF_C2H2 1355 1380 6.57e-1 SMART
ZnF_C2H2 1400 1425 3.83e-2 SMART
ZnF_C2H2 1437 1462 8.81e-2 SMART
low complexity region 1488 1514 N/A INTRINSIC
low complexity region 1521 1533 N/A INTRINSIC
ZnF_C2H2 1556 1581 4.81e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168615
AA Change: G561D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: G561D

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
low complexity region 188 199 N/A INTRINSIC
ZnF_C2H2 444 465 1.27e2 SMART
ZnF_C2H2 471 493 1.08e-1 SMART
ZnF_C2H2 557 582 5.42e-2 SMART
ZnF_C2H2 600 622 8.09e-1 SMART
ZnF_C2H2 628 652 3.99e0 SMART
ZnF_C2H2 657 681 3.16e-3 SMART
ZnF_C2H2 687 711 1.18e-2 SMART
low complexity region 775 799 N/A INTRINSIC
ZnF_C2H2 839 864 2.57e-3 SMART
low complexity region 945 956 N/A INTRINSIC
ZnF_C2H2 1012 1037 5.9e-3 SMART
ZnF_C2H2 1057 1080 4.17e-3 SMART
low complexity region 1149 1175 N/A INTRINSIC
ZnF_C2H2 1193 1218 5.06e-2 SMART
ZnF_C2H2 1245 1270 6.57e-1 SMART
ZnF_C2H2 1290 1315 3.83e-2 SMART
ZnF_C2H2 1327 1352 8.81e-2 SMART
low complexity region 1378 1404 N/A INTRINSIC
low complexity region 1411 1423 N/A INTRINSIC
ZnF_C2H2 1446 1471 4.81e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a hypomorphic ENU-induced allele exhibit postnatal lethality. Only a few mice survive to weaning age exhibiting a decreased body size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,895,524 (GRCm39) probably null Het
Agbl4 A T 4: 111,514,495 (GRCm39) D502V probably benign Het
Akap5 T A 12: 76,375,678 (GRCm39) V370E possibly damaging Het
Alms1 T C 6: 85,605,288 (GRCm39) C1844R probably benign Het
Apaf1 T C 10: 90,831,542 (GRCm39) K1191E probably benign Het
Bsn C T 9: 108,016,690 (GRCm39) R107Q possibly damaging Het
Catsperb G T 12: 101,447,307 (GRCm39) R269L probably damaging Het
Ccer1 T C 10: 97,529,804 (GRCm39) S156P unknown Het
Cdh16 C T 8: 105,346,572 (GRCm39) A241T probably benign Het
Cdk5rap2 A G 4: 70,172,972 (GRCm39) S1367P probably damaging Het
Cds2 C T 2: 132,135,235 (GRCm39) P42L probably benign Het
Col15a1 T C 4: 47,245,431 (GRCm39) Y61H possibly damaging Het
Dclre1a G A 19: 56,531,082 (GRCm39) P755S probably damaging Het
Ddi1 A T 9: 6,265,670 (GRCm39) M233K probably damaging Het
Dpp4 T C 2: 62,187,333 (GRCm39) Y474C probably damaging Het
Epha7 T A 4: 28,871,838 (GRCm39) M389K probably benign Het
Ephb3 T C 16: 21,033,457 (GRCm39) F181S probably damaging Het
Epor G A 9: 21,874,776 (GRCm39) probably benign Het
Fbp2 C A 13: 62,985,067 (GRCm39) V285L probably benign Het
Flnc A T 6: 29,452,258 (GRCm39) D1694V probably damaging Het
Ganab T A 19: 8,882,339 (GRCm39) M98K probably benign Het
Gcm2 A G 13: 41,259,230 (GRCm39) S80P probably damaging Het
Gls A G 1: 52,254,735 (GRCm39) S247P probably benign Het
Gne T C 4: 44,044,857 (GRCm39) N426D probably benign Het
Ifne A T 4: 88,797,840 (GRCm39) *193R probably null Het
Igf2r G T 17: 12,917,115 (GRCm39) S1595* probably null Het
Krt26 C T 11: 99,225,887 (GRCm39) M226I probably benign Het
Lars2 G A 9: 123,288,568 (GRCm39) V805I probably benign Het
Lrrc57 C A 2: 120,436,577 (GRCm39) R177L probably damaging Het
Lrrn1 A G 6: 107,546,083 (GRCm39) E627G probably benign Het
Magel2 CCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCT 7: 62,027,592 (GRCm39) probably benign Het
Mdga1 A T 17: 30,069,647 (GRCm39) V133E probably damaging Het
Med12l A G 3: 58,998,971 (GRCm39) T644A probably benign Het
Meis1 T A 11: 18,938,357 (GRCm39) D218V probably damaging Het
Myo15b A G 11: 115,768,970 (GRCm39) E1439G Het
Naa12 T C 18: 80,254,874 (GRCm39) V56A possibly damaging Het
Nckipsd G A 9: 108,691,280 (GRCm39) V401I probably benign Het
Nrg3 T C 14: 38,092,669 (GRCm39) I655V probably damaging Het
Oprm1 A T 10: 6,778,919 (GRCm39) I107F probably damaging Het
Or4k42 A C 2: 111,319,933 (GRCm39) I190R probably benign Het
Or52n3 A T 7: 104,530,057 (GRCm39) I48F probably benign Het
Or5p51 T C 7: 107,444,721 (GRCm39) D73G probably damaging Het
Osbpl7 T C 11: 96,945,704 (GRCm39) probably null Het
Pcdh18 T G 3: 49,699,232 (GRCm39) S1077R possibly damaging Het
Pcdhb16 A T 18: 37,611,975 (GRCm39) K312* probably null Het
Plekhh2 A T 17: 84,873,724 (GRCm39) E336D probably benign Het
Ptprd A T 4: 76,165,076 (GRCm39) S49T probably benign Het
Pxdn A G 12: 30,052,927 (GRCm39) I1035V probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,128 (GRCm39) probably benign Het
Selenbp2 A G 3: 94,607,404 (GRCm39) Q275R probably benign Het
Slc10a1 G T 12: 81,007,396 (GRCm39) F128L probably benign Het
Slitrk1 A T 14: 109,149,357 (GRCm39) Y451* probably null Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Stambpl1 G C 19: 34,204,116 (GRCm39) G69R probably damaging Het
Surf4 G T 2: 26,814,455 (GRCm39) R149S probably benign Het
Tmem151a T C 19: 5,132,702 (GRCm39) Y168C probably damaging Het
Ttc39c A G 18: 12,861,746 (GRCm39) K416R possibly damaging Het
Tut4 T C 4: 108,406,533 (GRCm39) I1367T possibly damaging Het
Vit T C 17: 78,932,309 (GRCm39) I472T probably damaging Het
Vmn1r212 A C 13: 23,067,718 (GRCm39) L205R probably damaging Het
Wscd2 T C 5: 113,715,402 (GRCm39) I414T probably benign Het
Zfp1005 A C 2: 150,108,081 (GRCm39) T14P possibly damaging Het
Other mutations in Rlf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Rlf APN 4 121,027,883 (GRCm39) missense possibly damaging 0.89
IGL00558:Rlf APN 4 121,008,170 (GRCm39) missense probably damaging 1.00
IGL00990:Rlf APN 4 121,005,536 (GRCm39) missense possibly damaging 0.87
IGL01625:Rlf APN 4 121,045,457 (GRCm39) missense possibly damaging 0.68
IGL01921:Rlf APN 4 121,003,943 (GRCm39) missense probably damaging 1.00
IGL01986:Rlf APN 4 121,005,303 (GRCm39) missense probably damaging 1.00
IGL02232:Rlf APN 4 121,039,811 (GRCm39) missense probably benign 0.21
IGL02586:Rlf APN 4 121,007,261 (GRCm39) missense probably damaging 1.00
IGL03177:Rlf APN 4 121,005,276 (GRCm39) nonsense probably null
IGL03233:Rlf APN 4 121,039,797 (GRCm39) splice site probably benign
IGL03293:Rlf APN 4 121,005,527 (GRCm39) missense probably benign 0.18
Brady UTSW 4 121,005,750 (GRCm39) nonsense probably null
bunch UTSW 4 121,012,172 (GRCm39) missense probably damaging 1.00
Rosary UTSW 4 121,005,807 (GRCm39) missense probably damaging 0.99
transsubstantiation UTSW 4 121,005,488 (GRCm39) missense probably benign 0.10
wafer UTSW 4 121,007,729 (GRCm39) missense probably benign 0.00
Wine UTSW 4 121,005,369 (GRCm39) missense probably damaging 1.00
PIT4651001:Rlf UTSW 4 121,007,510 (GRCm39) missense probably damaging 0.98
R0019:Rlf UTSW 4 121,003,769 (GRCm39) missense possibly damaging 0.46
R0019:Rlf UTSW 4 121,003,769 (GRCm39) missense possibly damaging 0.46
R0039:Rlf UTSW 4 121,004,039 (GRCm39) missense possibly damaging 0.90
R0041:Rlf UTSW 4 121,007,126 (GRCm39) missense probably damaging 1.00
R0041:Rlf UTSW 4 121,007,126 (GRCm39) missense probably damaging 1.00
R0590:Rlf UTSW 4 121,028,030 (GRCm39) splice site probably benign
R1562:Rlf UTSW 4 121,007,588 (GRCm39) missense possibly damaging 0.47
R1585:Rlf UTSW 4 121,005,488 (GRCm39) missense probably benign 0.10
R1627:Rlf UTSW 4 121,007,197 (GRCm39) missense probably benign 0.34
R1709:Rlf UTSW 4 121,007,020 (GRCm39) missense probably benign 0.00
R1968:Rlf UTSW 4 121,005,617 (GRCm39) missense probably damaging 1.00
R1982:Rlf UTSW 4 121,007,309 (GRCm39) missense probably damaging 1.00
R3120:Rlf UTSW 4 121,006,680 (GRCm39) missense probably benign 0.01
R3155:Rlf UTSW 4 121,006,529 (GRCm39) missense probably damaging 1.00
R3162:Rlf UTSW 4 121,006,044 (GRCm39) missense probably damaging 1.00
R3162:Rlf UTSW 4 121,006,044 (GRCm39) missense probably damaging 1.00
R3429:Rlf UTSW 4 121,007,729 (GRCm39) missense probably benign 0.00
R3430:Rlf UTSW 4 121,007,729 (GRCm39) missense probably benign 0.00
R3700:Rlf UTSW 4 121,008,060 (GRCm39) missense possibly damaging 0.77
R3732:Rlf UTSW 4 121,005,521 (GRCm39) missense probably benign
R3909:Rlf UTSW 4 121,006,229 (GRCm39) missense probably benign 0.00
R4033:Rlf UTSW 4 121,004,540 (GRCm39) missense probably damaging 1.00
R4350:Rlf UTSW 4 121,006,293 (GRCm39) missense probably benign 0.16
R4654:Rlf UTSW 4 121,007,798 (GRCm39) missense probably benign 0.28
R4976:Rlf UTSW 4 121,004,652 (GRCm39) missense probably damaging 0.98
R5060:Rlf UTSW 4 121,004,063 (GRCm39) missense probably benign 0.00
R5105:Rlf UTSW 4 121,007,564 (GRCm39) missense probably damaging 1.00
R5119:Rlf UTSW 4 121,004,652 (GRCm39) missense probably damaging 0.98
R5150:Rlf UTSW 4 121,005,369 (GRCm39) missense probably damaging 1.00
R5198:Rlf UTSW 4 121,005,750 (GRCm39) nonsense probably null
R5214:Rlf UTSW 4 121,007,897 (GRCm39) missense probably damaging 1.00
R6084:Rlf UTSW 4 121,006,412 (GRCm39) missense possibly damaging 0.95
R6131:Rlf UTSW 4 121,012,172 (GRCm39) missense probably damaging 1.00
R6188:Rlf UTSW 4 121,027,963 (GRCm39) missense probably damaging 1.00
R6313:Rlf UTSW 4 121,005,807 (GRCm39) missense probably damaging 0.99
R6332:Rlf UTSW 4 121,006,019 (GRCm39) missense possibly damaging 0.75
R6341:Rlf UTSW 4 121,006,557 (GRCm39) nonsense probably null
R6413:Rlf UTSW 4 121,004,522 (GRCm39) missense probably damaging 1.00
R6683:Rlf UTSW 4 121,005,123 (GRCm39) missense probably damaging 1.00
R7066:Rlf UTSW 4 121,005,984 (GRCm39) missense probably benign
R7640:Rlf UTSW 4 121,003,998 (GRCm39) missense possibly damaging 0.96
R7641:Rlf UTSW 4 121,016,393 (GRCm39) missense probably damaging 1.00
R7855:Rlf UTSW 4 121,039,888 (GRCm39) missense possibly damaging 0.93
R8127:Rlf UTSW 4 121,005,093 (GRCm39) missense possibly damaging 0.89
R8146:Rlf UTSW 4 121,004,429 (GRCm39) missense probably benign 0.16
R8182:Rlf UTSW 4 121,008,102 (GRCm39) missense possibly damaging 0.94
R8350:Rlf UTSW 4 121,027,954 (GRCm39) missense probably damaging 0.98
R8375:Rlf UTSW 4 121,005,532 (GRCm39) missense probably damaging 0.96
R8754:Rlf UTSW 4 121,004,010 (GRCm39) missense possibly damaging 0.90
R8837:Rlf UTSW 4 121,045,432 (GRCm39) missense probably benign 0.06
R8901:Rlf UTSW 4 121,004,010 (GRCm39) missense possibly damaging 0.90
R9054:Rlf UTSW 4 121,007,784 (GRCm39) missense possibly damaging 0.47
R9090:Rlf UTSW 4 121,004,751 (GRCm39) missense probably benign
R9144:Rlf UTSW 4 121,003,900 (GRCm39) missense probably benign 0.16
R9265:Rlf UTSW 4 121,007,487 (GRCm39) missense possibly damaging 0.63
R9271:Rlf UTSW 4 121,004,751 (GRCm39) missense probably benign
R9549:Rlf UTSW 4 121,005,320 (GRCm39) missense probably damaging 1.00
R9550:Rlf UTSW 4 121,003,620 (GRCm39) missense probably damaging 1.00
R9570:Rlf UTSW 4 121,007,087 (GRCm39) missense possibly damaging 0.90
R9627:Rlf UTSW 4 121,007,002 (GRCm39) nonsense probably null
R9652:Rlf UTSW 4 121,007,865 (GRCm39) missense probably damaging 1.00
Z1176:Rlf UTSW 4 121,007,625 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTCTCGGAGGTGAAAAGCTG -3'
(R):5'- GAGCTATTTGTTCCTCACGTAATG -3'

Sequencing Primer
(F):5'- TGACATGAAATGCCGCCG -3'
(R):5'- GCAGAAGCCACCGTTCTAG -3'
Posted On 2019-10-07