Incidental Mutation 'R7640:Rlf'
ID 590175
Institutional Source Beutler Lab
Gene Symbol Rlf
Ensembl Gene ENSMUSG00000049878
Gene Name rearranged L-myc fusion sequence
Synonyms MommeD8, 9230110M18Rik
MMRRC Submission 045698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7640 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 121145373-121215084 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121146801 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1771 (M1771L)
Ref Sequence ENSEMBL: ENSMUSP00000050825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056635] [ENSMUST00000168615]
AlphaFold A2A7F4
Predicted Effect possibly damaging
Transcript: ENSMUST00000056635
AA Change: M1771L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: M1771L

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 possibly damaging
Transcript: ENSMUST00000168615
AA Change: M1661L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: M1661L

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 99% (68/69)
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
1700013G24Rik A T 4: 137,454,594 (GRCm38) N20I probably damaging Het
1700020D05Rik T A 19: 5,503,007 (GRCm38) S249C probably damaging Het
4930558K02Rik A G 1: 161,957,149 (GRCm38) S74P probably benign Het
4932415D10Rik T A 10: 82,294,656 (GRCm38) N840I probably damaging Het
Abcb6 A T 1: 75,174,845 (GRCm38) probably null Het
Adamts14 C A 10: 61,246,057 (GRCm38) A234S probably benign Het
Ankrd42 A G 7: 92,619,635 (GRCm38) S167P probably benign Het
Ap3m1 T C 14: 21,038,175 (GRCm38) I272V probably benign Het
Armt1 T C 10: 4,453,572 (GRCm38) F219S probably damaging Het
Atr T G 9: 95,907,293 (GRCm38) probably null Het
Cep72 G A 13: 74,058,488 (GRCm38) Q72* probably null Het
Clock G T 5: 76,248,378 (GRCm38) L175M possibly damaging Het
Cnmd T A 14: 79,661,534 (GRCm38) Y26F possibly damaging Het
Col6a6 A T 9: 105,785,744 (GRCm38) M198K possibly damaging Het
Cuta C T 17: 26,938,422 (GRCm38) V135I probably benign Het
Ddx41 A T 13: 55,534,239 (GRCm38) M241K possibly damaging Het
Dnajc22 A G 15: 99,101,114 (GRCm38) N60S probably damaging Het
Drc3 A G 11: 60,388,904 (GRCm38) M432V probably benign Het
Eef1d C A 15: 75,902,707 (GRCm38) G368C probably damaging Het
En2 A T 5: 28,170,166 (GRCm38) K236* probably null Het
Fas A G 19: 34,307,164 (GRCm38) T24A possibly damaging Het
Gm13078 T C 4: 143,726,706 (GRCm38) V128A probably benign Het
Golga2 T C 2: 32,306,239 (GRCm38) V930A probably benign Het
Gprin2 G T 14: 34,195,753 (GRCm38) A20D probably benign Het
Ighv14-4 A T 12: 114,176,444 (GRCm38) C115* probably null Het
Impdh2 T C 9: 108,565,181 (GRCm38) Y459H possibly damaging Het
Klhdc7b G T 15: 89,387,260 (GRCm38) V124L possibly damaging Het
L2hgdh A T 12: 69,721,357 (GRCm38) Y122* probably null Het
Lamc2 A T 1: 153,136,804 (GRCm38) I708N possibly damaging Het
Large2 T C 2: 92,374,705 (GRCm38) M1V probably null Het
Lrit2 T C 14: 37,072,124 (GRCm38) W382R probably damaging Het
Mcee T A 7: 64,411,968 (GRCm38) V173E probably damaging Het
Mcph1 T A 8: 18,632,326 (GRCm38) V493E probably benign Het
Mfap4 A G 11: 61,487,087 (GRCm38) N118D probably damaging Het
Mknk2 T C 10: 80,668,566 (GRCm38) S301G probably benign Het
Mlf1 G A 3: 67,392,933 (GRCm38) M94I possibly damaging Het
Mrc2 T A 11: 105,332,295 (GRCm38) S455T possibly damaging Het
Mrgprb5 T G 7: 48,168,259 (GRCm38) I243L probably benign Het
Muc4 C A 16: 32,760,105 (GRCm38) P360T Het
Nat10 G A 2: 103,743,090 (GRCm38) A354V probably damaging Het
Nts T C 10: 102,490,304 (GRCm38) Q7R possibly damaging Het
Oas1b T C 5: 120,821,414 (GRCm38) L288P probably damaging Het
Olfr1076 A G 2: 86,508,943 (GRCm38) I161M possibly damaging Het
Olfr1131 A G 2: 87,629,092 (GRCm38) I94V probably benign Het
Olfr1196 T A 2: 88,700,886 (GRCm38) I148L probably benign Het
Olfr633 A T 7: 103,946,943 (GRCm38) I126F probably damaging Het
Otoa A G 7: 121,145,626 (GRCm38) E869G probably damaging Het
Pcdhac2 T C 18: 37,144,525 (GRCm38) L186P probably damaging Het
Plekhh2 A G 17: 84,610,776 (GRCm38) E1271G possibly damaging Het
Pmepa1 C T 2: 173,276,163 (GRCm38) A8T probably benign Het
Rc3h2 A G 2: 37,377,849 (GRCm38) probably null Het
Rpap1 G A 2: 119,764,410 (GRCm38) P1372L possibly damaging Het
Rragd A T 4: 32,983,527 (GRCm38) D22V probably benign Het
Sema3f A T 9: 107,683,575 (GRCm38) S644R probably benign Het
Sp110 G A 1: 85,579,092 (GRCm38) R417C probably benign Het
Specc1l T A 10: 75,257,869 (GRCm38) N717K probably damaging Het
Sphkap C T 1: 83,278,928 (GRCm38) D367N possibly damaging Het
Tbc1d21 C T 9: 58,361,261 (GRCm38) V272M probably damaging Het
Tmem132c A G 5: 127,563,006 (GRCm38) D747G probably damaging Het
Tmem56 A G 3: 121,235,041 (GRCm38) probably null Het
Trim2 C A 3: 84,190,906 (GRCm38) V372F probably benign Het
Ttc34 A G 4: 154,861,384 (GRCm38) T292A probably benign Het
Ube3b A G 5: 114,415,323 (GRCm38) T919A probably benign Het
Wdr34 T G 2: 30,031,768 (GRCm38) D527A probably benign Het
Zfhx4 T C 3: 5,412,480 (GRCm38) I3385T probably benign Het
Zfp423 T C 8: 87,781,277 (GRCm38) K813R probably damaging Het
Zfp850 T C 7: 27,989,209 (GRCm38) T525A probably benign Het
Zfp873 T C 10: 82,060,275 (GRCm38) I280T possibly damaging Het
Zkscan7 A G 9: 122,896,056 (GRCm38) T697A possibly damaging Het
Other mutations in Rlf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Rlf APN 4 121,170,686 (GRCm38) missense possibly damaging 0.89
IGL00558:Rlf APN 4 121,150,973 (GRCm38) missense probably damaging 1.00
IGL00990:Rlf APN 4 121,148,339 (GRCm38) missense possibly damaging 0.87
IGL01625:Rlf APN 4 121,188,260 (GRCm38) missense possibly damaging 0.68
IGL01921:Rlf APN 4 121,146,746 (GRCm38) missense probably damaging 1.00
IGL01986:Rlf APN 4 121,148,106 (GRCm38) missense probably damaging 1.00
IGL02232:Rlf APN 4 121,182,614 (GRCm38) missense probably benign 0.21
IGL02586:Rlf APN 4 121,150,064 (GRCm38) missense probably damaging 1.00
IGL03177:Rlf APN 4 121,148,079 (GRCm38) nonsense probably null
IGL03233:Rlf APN 4 121,182,600 (GRCm38) splice site probably benign
IGL03293:Rlf APN 4 121,148,330 (GRCm38) missense probably benign 0.18
Brady UTSW 4 121,148,553 (GRCm38) nonsense probably null
bunch UTSW 4 121,154,975 (GRCm38) missense probably damaging 1.00
Rosary UTSW 4 121,148,610 (GRCm38) missense probably damaging 0.99
transsubstantiation UTSW 4 121,148,291 (GRCm38) missense probably benign 0.10
wafer UTSW 4 121,150,532 (GRCm38) missense probably benign 0.00
Wine UTSW 4 121,148,172 (GRCm38) missense probably damaging 1.00
PIT4651001:Rlf UTSW 4 121,150,313 (GRCm38) missense probably damaging 0.98
R0019:Rlf UTSW 4 121,146,572 (GRCm38) missense possibly damaging 0.46
R0019:Rlf UTSW 4 121,146,572 (GRCm38) missense possibly damaging 0.46
R0039:Rlf UTSW 4 121,146,842 (GRCm38) missense possibly damaging 0.90
R0041:Rlf UTSW 4 121,149,929 (GRCm38) missense probably damaging 1.00
R0041:Rlf UTSW 4 121,149,929 (GRCm38) missense probably damaging 1.00
R0590:Rlf UTSW 4 121,170,833 (GRCm38) splice site probably benign
R1562:Rlf UTSW 4 121,150,391 (GRCm38) missense possibly damaging 0.47
R1585:Rlf UTSW 4 121,148,291 (GRCm38) missense probably benign 0.10
R1627:Rlf UTSW 4 121,150,000 (GRCm38) missense probably benign 0.34
R1709:Rlf UTSW 4 121,149,823 (GRCm38) missense probably benign 0.00
R1968:Rlf UTSW 4 121,148,420 (GRCm38) missense probably damaging 1.00
R1982:Rlf UTSW 4 121,150,112 (GRCm38) missense probably damaging 1.00
R3120:Rlf UTSW 4 121,149,483 (GRCm38) missense probably benign 0.01
R3155:Rlf UTSW 4 121,149,332 (GRCm38) missense probably damaging 1.00
R3162:Rlf UTSW 4 121,148,847 (GRCm38) missense probably damaging 1.00
R3162:Rlf UTSW 4 121,148,847 (GRCm38) missense probably damaging 1.00
R3429:Rlf UTSW 4 121,150,532 (GRCm38) missense probably benign 0.00
R3430:Rlf UTSW 4 121,150,532 (GRCm38) missense probably benign 0.00
R3700:Rlf UTSW 4 121,150,863 (GRCm38) missense possibly damaging 0.77
R3732:Rlf UTSW 4 121,148,324 (GRCm38) missense probably benign
R3909:Rlf UTSW 4 121,149,032 (GRCm38) missense probably benign 0.00
R4033:Rlf UTSW 4 121,147,343 (GRCm38) missense probably damaging 1.00
R4350:Rlf UTSW 4 121,149,096 (GRCm38) missense probably benign 0.16
R4654:Rlf UTSW 4 121,150,601 (GRCm38) missense probably benign 0.28
R4976:Rlf UTSW 4 121,147,455 (GRCm38) missense probably damaging 0.98
R5060:Rlf UTSW 4 121,146,866 (GRCm38) missense probably benign 0.00
R5105:Rlf UTSW 4 121,150,367 (GRCm38) missense probably damaging 1.00
R5119:Rlf UTSW 4 121,147,455 (GRCm38) missense probably damaging 0.98
R5150:Rlf UTSW 4 121,148,172 (GRCm38) missense probably damaging 1.00
R5198:Rlf UTSW 4 121,148,553 (GRCm38) nonsense probably null
R5214:Rlf UTSW 4 121,150,700 (GRCm38) missense probably damaging 1.00
R6084:Rlf UTSW 4 121,149,215 (GRCm38) missense possibly damaging 0.95
R6131:Rlf UTSW 4 121,154,975 (GRCm38) missense probably damaging 1.00
R6188:Rlf UTSW 4 121,170,766 (GRCm38) missense probably damaging 1.00
R6313:Rlf UTSW 4 121,148,610 (GRCm38) missense probably damaging 0.99
R6332:Rlf UTSW 4 121,148,822 (GRCm38) missense possibly damaging 0.75
R6341:Rlf UTSW 4 121,149,360 (GRCm38) nonsense probably null
R6413:Rlf UTSW 4 121,147,325 (GRCm38) missense probably damaging 1.00
R6683:Rlf UTSW 4 121,147,926 (GRCm38) missense probably damaging 1.00
R7066:Rlf UTSW 4 121,148,787 (GRCm38) missense probably benign
R7413:Rlf UTSW 4 121,150,100 (GRCm38) missense probably damaging 1.00
R7641:Rlf UTSW 4 121,159,196 (GRCm38) missense probably damaging 1.00
R7855:Rlf UTSW 4 121,182,691 (GRCm38) missense possibly damaging 0.93
R8127:Rlf UTSW 4 121,147,896 (GRCm38) missense possibly damaging 0.89
R8146:Rlf UTSW 4 121,147,232 (GRCm38) missense probably benign 0.16
R8182:Rlf UTSW 4 121,150,905 (GRCm38) missense possibly damaging 0.94
R8350:Rlf UTSW 4 121,170,757 (GRCm38) missense probably damaging 0.98
R8375:Rlf UTSW 4 121,148,335 (GRCm38) missense probably damaging 0.96
R8754:Rlf UTSW 4 121,146,813 (GRCm38) missense possibly damaging 0.90
R8837:Rlf UTSW 4 121,188,235 (GRCm38) missense probably benign 0.06
R8901:Rlf UTSW 4 121,146,813 (GRCm38) missense possibly damaging 0.90
R9054:Rlf UTSW 4 121,150,587 (GRCm38) missense possibly damaging 0.47
R9090:Rlf UTSW 4 121,147,554 (GRCm38) missense probably benign
R9144:Rlf UTSW 4 121,146,703 (GRCm38) missense probably benign 0.16
R9265:Rlf UTSW 4 121,150,290 (GRCm38) missense possibly damaging 0.63
R9271:Rlf UTSW 4 121,147,554 (GRCm38) missense probably benign
R9549:Rlf UTSW 4 121,148,123 (GRCm38) missense probably damaging 1.00
R9550:Rlf UTSW 4 121,146,423 (GRCm38) missense probably damaging 1.00
R9570:Rlf UTSW 4 121,149,890 (GRCm38) missense possibly damaging 0.90
R9627:Rlf UTSW 4 121,149,805 (GRCm38) nonsense probably null
R9652:Rlf UTSW 4 121,150,668 (GRCm38) missense probably damaging 1.00
Z1176:Rlf UTSW 4 121,150,428 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTCAACTTGAGGGGCACTC -3'
(R):5'- TTCTCCCTGTAAAATAGAAAGCCC -3'

Sequencing Primer
(F):5'- GAGGGGCACTCTCATTCACTATG -3'
(R):5'- TGGGACAGAAAGTGGTACTTATTTC -3'
Posted On 2019-10-24