Incidental Mutation 'R9271:Rlf'
ID 702910
Institutional Source Beutler Lab
Gene Symbol Rlf
Ensembl Gene ENSMUSG00000049878
Gene Name rearranged L-myc fusion sequence
Synonyms 9230110M18Rik, MommeD8
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9271 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 121003080-121072318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121004751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1520 (T1520A)
Ref Sequence ENSEMBL: ENSMUSP00000050825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056635] [ENSMUST00000168615]
AlphaFold A2A7F4
Predicted Effect probably benign
Transcript: ENSMUST00000056635
AA Change: T1520A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: T1520A

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 benign
Transcript: ENSMUST00000168615
AA Change: T1410A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: T1410A

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: 99.1%
Validation Efficiency 100% (107/107)
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: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,901,940 (GRCm39) S819T probably damaging Het
Abca13 A T 11: 9,241,698 (GRCm39) D1187V probably damaging Het
Ak9 C A 10: 41,300,623 (GRCm39) T1611K unknown Het
Als2 G T 1: 59,242,189 (GRCm39) T622K probably benign Het
Ankrd40 G A 11: 94,225,262 (GRCm39) A98T probably benign Het
Ap1b1 T C 11: 4,973,174 (GRCm39) L339P probably damaging Het
Appl1 A C 14: 26,669,084 (GRCm39) H363Q probably benign Het
Atf6 T C 1: 170,622,245 (GRCm39) N459D probably damaging Het
Ccdc6 A T 10: 70,024,993 (GRCm39) Q432L unknown Het
Ccl21a T A 4: 42,773,486 (GRCm39) Q84L probably damaging Het
Cct4 A G 11: 22,951,389 (GRCm39) I348V probably benign Het
Cd300ld2 A G 11: 114,904,550 (GRCm39) Y106H probably damaging Het
Cdh19 C T 1: 110,876,947 (GRCm39) E131K probably damaging Het
Cdon A G 9: 35,403,175 (GRCm39) D1095G probably damaging Het
Cep85l T A 10: 53,157,670 (GRCm39) R678* probably null Het
Chst3 T A 10: 60,021,465 (GRCm39) S461C probably damaging Het
Clk1 A G 1: 58,459,312 (GRCm39) I149T possibly damaging Het
Clvs2 T A 10: 33,389,301 (GRCm39) D313V possibly damaging Het
Dap3 T C 3: 88,840,913 (GRCm39) T75A probably benign Het
Dnaaf1 T A 8: 120,324,392 (GRCm39) F631L probably benign Het
Dnah14 A T 1: 181,597,325 (GRCm39) N3549I probably benign Het
Dnah17 A T 11: 117,931,870 (GRCm39) Y3701N probably damaging Het
Dock6 A G 9: 21,752,796 (GRCm39) V339A possibly damaging Het
Dpp6 T A 5: 27,803,832 (GRCm39) C259* probably null Het
Dqx1 A G 6: 83,036,024 (GRCm39) T119A probably benign Het
Dync1h1 G T 12: 110,583,310 (GRCm39) R469L probably benign Het
Eno4 C T 19: 58,951,260 (GRCm39) A424V probably benign Het
Entrep1 A T 19: 23,972,221 (GRCm39) I161N possibly damaging Het
Fads1 T A 19: 10,163,162 (GRCm39) D146E probably damaging Het
Fam171a1 C T 2: 3,224,543 (GRCm39) T303M probably damaging Het
Fbxw20 C T 9: 109,050,423 (GRCm39) D401N probably benign Het
Fcho1 T A 8: 72,163,068 (GRCm39) T654S possibly damaging Het
Flad1 C A 3: 89,315,858 (GRCm39) E235* probably null Het
Flrt2 G T 12: 95,745,907 (GRCm39) A82S probably benign Het
Gabrg3 A T 7: 56,829,386 (GRCm39) S124T probably benign Het
Galt C T 4: 41,756,777 (GRCm39) T139I probably benign Het
Garin4 A G 1: 190,895,153 (GRCm39) S497P probably damaging Het
Gfod1 T C 13: 43,456,861 (GRCm39) E38G possibly damaging Het
Gm10330 A G 12: 23,829,992 (GRCm39) I63T possibly damaging Het
Gm3033 A T 14: 3,846,968 (GRCm38) N28I Het
Gm49359 A G 13: 62,602,867 (GRCm39) V111A probably benign Het
Gpank1 C T 17: 35,340,734 (GRCm39) probably benign Het
Hck T C 2: 152,973,185 (GRCm39) L156P probably damaging Het
Hcn3 G T 3: 89,057,267 (GRCm39) R444S probably damaging Het
Hephl1 T C 9: 14,988,236 (GRCm39) N624S probably damaging Het
Hmcn1 A G 1: 150,632,309 (GRCm39) I876T probably damaging Het
Itga9 T A 9: 118,500,859 (GRCm39) D377E possibly damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Itprid1 G T 6: 55,944,051 (GRCm39) R417L probably benign Het
Kcnk1 T A 8: 126,752,152 (GRCm39) probably null Het
Klk1b11 C T 7: 43,425,954 (GRCm39) L32F probably benign Het
Lta4h A G 10: 93,310,412 (GRCm39) S427G probably benign Het
Lxn T A 3: 67,368,651 (GRCm39) I122F probably damaging Het
Lyz1 A G 10: 117,124,492 (GRCm39) V148A possibly damaging Het
Mael G T 1: 166,032,424 (GRCm39) Q326K probably benign Het
Magi3 T C 3: 103,923,264 (GRCm39) D1151G possibly damaging Het
Map3k9 C A 12: 81,769,261 (GRCm39) G929V probably benign Het
Mcoln1 A G 8: 3,555,771 (GRCm39) Y22C probably damaging Het
Mier3 G T 13: 111,827,870 (GRCm39) M45I probably benign Het
Mrpl1 T C 5: 96,371,746 (GRCm39) V91A probably damaging Het
Msra T C 14: 64,471,269 (GRCm39) probably null Het
Myo7a T C 7: 97,740,281 (GRCm39) H571R probably benign Het
Myom1 T A 17: 71,374,325 (GRCm39) W601R probably damaging Het
Myom3 C T 4: 135,505,479 (GRCm39) T456I probably benign Het
Nags A T 11: 102,037,584 (GRCm39) H225L probably benign Het
Ncaph C A 2: 126,958,554 (GRCm39) K488N probably damaging Het
Nkain3 C T 4: 20,484,897 (GRCm39) R60H probably damaging Het
Nlrp9a A T 7: 26,261,944 (GRCm39) M698L probably benign Het
Nmur2 A C 11: 55,931,308 (GRCm39) I134M probably benign Het
Nrp2 A C 1: 62,784,670 (GRCm39) E273A probably benign Het
Nup85 A G 11: 115,468,787 (GRCm39) D210G possibly damaging Het
Obscn A G 11: 59,006,643 (GRCm39) F1173S probably damaging Het
Or5ac24 A T 16: 59,165,145 (GRCm39) C306* probably null Het
Otogl T A 10: 107,652,974 (GRCm39) E1126V probably null Het
Pfkl T C 10: 77,833,426 (GRCm39) I259V probably benign Het
Phkg1 A T 5: 129,893,863 (GRCm39) Y291N probably benign Het
Piezo2 T G 18: 63,163,450 (GRCm39) H2156P probably damaging Het
Piezo2 C A 18: 63,208,790 (GRCm39) V1408L probably damaging Het
Pira13 T A 7: 3,819,997 (GRCm39) E640V unknown Het
Pkd2 A G 5: 104,626,959 (GRCm39) probably null Het
Plekhg3 A G 12: 76,622,694 (GRCm39) T646A probably benign Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Ppp1r12a T C 10: 108,098,224 (GRCm39) S838P probably damaging Het
Rarb A T 14: 16,435,235 (GRCm38) Y270* probably null Het
Rbm15 T C 3: 107,239,312 (GRCm39) E362G possibly damaging Het
Rcan1 A G 16: 92,262,741 (GRCm39) F76L Het
Rdh19 T C 10: 127,696,142 (GRCm39) L298P probably damaging Het
Rims1 T A 1: 22,498,773 (GRCm39) H57L Het
Rnase1 T A 14: 51,382,964 (GRCm39) H130L possibly damaging Het
Samd8 T A 14: 21,842,569 (GRCm39) M360K probably damaging Het
Samhd1 A G 2: 156,956,205 (GRCm39) L329P probably damaging Het
Scube1 C T 15: 83,494,394 (GRCm39) E878K probably damaging Het
Sema3b T C 9: 107,476,154 (GRCm39) Y689C probably damaging Het
Semp2l2a T C 8: 13,886,697 (GRCm39) T465A possibly damaging Het
Sgo1 T C 17: 53,983,931 (GRCm39) probably benign Het
Sh3pxd2b A T 11: 32,373,361 (GRCm39) N843Y possibly damaging Het
Slco1a6 C T 6: 142,035,575 (GRCm39) C583Y probably damaging Het
Smg1 A C 7: 117,811,786 (GRCm39) V88G unknown Het
Spata24 T A 18: 35,790,054 (GRCm39) N146Y probably damaging Het
Tcf3 C A 10: 80,253,191 (GRCm39) V258L probably benign Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tiam2 T C 17: 3,465,011 (GRCm39) Y247H probably damaging Het
Ticrr T C 7: 79,310,604 (GRCm39) F173L possibly damaging Het
Tpp2 A G 1: 43,993,811 (GRCm39) E232G probably damaging Het
Trank1 T A 9: 111,174,547 (GRCm39) V138E probably damaging Het
Ttll3 T C 6: 113,369,596 (GRCm39) S47P probably benign Het
Utp4 C T 8: 107,632,857 (GRCm39) T280M probably damaging Het
Vmn1r123 A T 7: 20,896,794 (GRCm39) N229Y probably benign Het
Vmn1r85 A T 7: 12,818,942 (GRCm39) Y67* probably null Het
Zbtb12 T A 17: 35,114,320 (GRCm39) V35E possibly damaging Het
Zmym6 T A 4: 127,017,854 (GRCm39) F1212I probably 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
R7413:Rlf UTSW 4 121,007,297 (GRCm39) missense probably damaging 1.00
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
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'- GGCACTATTCATCTGGTGGG -3'
(R):5'- ATTACTTCCAGCATGTCTACTACCG -3'

Sequencing Primer
(F):5'- GGTACGTTTGTAATGTCTCACAATGC -3'
(R):5'- ACTACCGACATAAGGACTATTATGAC -3'
Posted On 2022-03-25