Incidental Mutation 'R5214:Rlf'
ID 403327
Institutional Source Beutler Lab
Gene Symbol Rlf
Ensembl Gene ENSMUSG00000049878
Gene Name rearranged L-myc fusion sequence
Synonyms 9230110M18Rik, MommeD8
MMRRC Submission 042787-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5214 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 121003080-121072318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121007897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 361 (D361G)
Ref Sequence ENSEMBL: ENSMUSP00000127068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056635] [ENSMUST00000168615]
AlphaFold A2A7F4
Predicted Effect probably damaging
Transcript: ENSMUST00000056635
AA Change: D471G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: D471G

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: D361G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: D361G

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
Meta Mutation Damage Score 0.2157 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (77/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik A G 3: 116,861,424 (GRCm39) noncoding transcript Het
4930449A18Rik A T 3: 59,733,305 (GRCm39) noncoding transcript Het
Acsbg3 T C 17: 57,193,493 (GRCm39) V613A probably benign Het
Adgrl1 G A 8: 84,642,202 (GRCm39) probably null Het
Aldh1l1 A G 6: 90,540,399 (GRCm39) D228G probably damaging Het
Ankrd17 T C 5: 90,431,319 (GRCm39) I822V possibly damaging Het
Atm C A 9: 53,402,327 (GRCm39) A1382S probably benign Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Cacna1e T A 1: 154,577,110 (GRCm39) I96F possibly damaging Het
Calhm5 A G 10: 33,968,487 (GRCm39) S189P probably damaging Het
Ccar1 G A 10: 62,606,740 (GRCm39) R335C probably damaging Het
Ccdc113 T C 8: 96,272,601 (GRCm39) I236T possibly damaging Het
Ccdc14 T A 16: 34,525,225 (GRCm39) S125T probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdon T C 9: 35,394,504 (GRCm39) C917R probably damaging Het
Ckap2l T C 2: 129,127,389 (GRCm39) D263G probably benign Het
Cntnap3 G T 13: 64,909,824 (GRCm39) H760Q probably damaging Het
Dennd2d G A 3: 106,393,637 (GRCm39) probably null Het
Dock4 A G 12: 40,754,465 (GRCm39) I485V probably benign Het
Dspp A G 5: 104,326,364 (GRCm39) D909G unknown Het
Eps8 A T 6: 137,504,490 (GRCm39) M81K probably damaging Het
Fras1 T C 5: 96,917,452 (GRCm39) S3491P probably damaging Het
Gm17669 C T 18: 67,695,479 (GRCm39) T8I possibly damaging Het
Gm5114 G T 7: 39,057,792 (GRCm39) T609K probably benign Het
Gm973 A G 1: 59,565,880 (GRCm39) N32S probably damaging Het
Herpud1 G T 8: 95,117,479 (GRCm39) probably null Het
Jcad T A 18: 4,674,134 (GRCm39) L632Q probably damaging Het
Kcnh8 T C 17: 53,205,486 (GRCm39) L527S probably damaging Het
Klk1b11 C A 7: 43,647,266 (GRCm39) H67N probably benign Het
Ldhb T A 6: 142,441,321 (GRCm39) I190F probably damaging Het
Lrrc34 A T 3: 30,690,397 (GRCm39) C168* probably null Het
Lrtm1 C T 14: 28,743,651 (GRCm39) H40Y possibly damaging Het
Mageb3 T C 2: 121,785,319 (GRCm39) M128V possibly damaging Het
Miga2 A G 2: 30,261,208 (GRCm39) T90A probably benign Het
Msantd5 C A 11: 51,125,675 (GRCm39) H199Q possibly damaging Het
Ndrg1 G A 15: 66,831,239 (GRCm39) T24I probably damaging Het
Nos2 T C 11: 78,846,267 (GRCm39) L878P probably damaging Het
Or11g27 T G 14: 50,771,804 (GRCm39) *312E probably null Het
Pcdhgb1 T A 18: 37,814,478 (GRCm39) I323N probably damaging Het
Plec A G 15: 76,061,921 (GRCm39) I2537T probably damaging Het
Pnpo C A 11: 96,833,295 (GRCm39) E68D probably benign Het
Ppp6r1 C T 7: 4,646,176 (GRCm39) R175Q probably benign Het
Prnp C T 2: 131,778,924 (GRCm39) T192I probably damaging Het
Ptprb T C 10: 116,205,229 (GRCm39) I2148T possibly damaging Het
Raf1 G T 6: 115,614,583 (GRCm39) F99L possibly damaging Het
Rbks A G 5: 31,807,736 (GRCm39) probably benign Het
Rnpepl1 G T 1: 92,847,001 (GRCm39) D608Y probably benign Het
Scaf1 G A 7: 44,652,662 (GRCm39) probably benign Het
Sh3rf1 A T 8: 61,825,765 (GRCm39) M587L probably damaging Het
Slc22a21 A T 11: 53,843,869 (GRCm39) S473T probably damaging Het
Syt15 A G 14: 33,943,703 (GRCm39) D84G possibly damaging Het
Tbc1d19 T C 5: 54,007,183 (GRCm39) L236P probably benign Het
Tbx2 G T 11: 85,729,263 (GRCm39) A549S probably benign Het
Tc2n A T 12: 101,659,461 (GRCm39) C157* probably null Het
Tecta C T 9: 42,256,964 (GRCm39) V1571I probably benign Het
Them4 A G 3: 94,224,818 (GRCm39) K65R probably benign Het
Tmc5 C T 7: 118,247,155 (GRCm39) T553M probably damaging Het
Tmem200c C T 17: 69,148,122 (GRCm39) A235V probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Tmf1 G C 6: 97,144,253 (GRCm39) A701G possibly damaging Het
Tomm70a G A 16: 56,942,300 (GRCm39) G26S unknown Het
Treh T C 9: 44,594,173 (GRCm39) Y140H probably damaging Het
Ttc28 A G 5: 111,325,489 (GRCm39) probably benign Het
Uba7 T C 9: 107,854,713 (GRCm39) probably benign Het
Ube4a T C 9: 44,860,166 (GRCm39) I299V probably benign Het
Zfhx4 A C 3: 5,468,701 (GRCm39) K2953T probably damaging Het
Zfp280d T A 9: 72,215,395 (GRCm39) probably benign Het
Zscan20 G A 4: 128,482,109 (GRCm39) R518C probably benign Het
Zw10 T C 9: 48,975,463 (GRCm39) I296T 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
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
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'- TCTCTCAGAGGAACCAATGGG -3'
(R):5'- ACGAGCCTGTCAGCTTACAG -3'

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