Incidental Mutation 'R9144:Rlf'
ID 694486
Institutional Source Beutler Lab
Gene Symbol Rlf
Ensembl Gene ENSMUSG00000049878
Gene Name rearranged L-myc fusion sequence
Synonyms 9230110M18Rik, MommeD8
MMRRC Submission 068935-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9144 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 121003080-121072318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121003900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1803 (N1803K)
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: N1803K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: N1803K

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: N1693K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: N1693K

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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 C T 9: 44,192,708 (GRCm39) V176M possibly damaging Het
Acp5 T C 9: 22,041,242 (GRCm39) T62A probably benign Het
Alad A T 4: 62,430,257 (GRCm39) D88E probably damaging Het
Arap1 T C 7: 101,047,602 (GRCm39) I803T probably damaging Het
Bckdhb C A 9: 83,894,662 (GRCm39) T312K probably damaging Het
Cfap206 A G 4: 34,722,667 (GRCm39) V138A possibly damaging Het
Cntnap5b A G 1: 99,978,512 (GRCm39) Y176C probably damaging Het
Creld1 A T 6: 113,461,468 (GRCm39) T63S probably damaging Het
Dsc1 G A 18: 20,218,639 (GRCm39) T878I possibly damaging Het
Ehbp1 C T 11: 22,018,463 (GRCm39) R873H probably damaging Het
Eml2 T C 7: 18,935,564 (GRCm39) V466A possibly damaging Het
Ercc5 T A 1: 44,213,511 (GRCm39) Y836N probably damaging Het
Fgf20 T C 8: 40,732,958 (GRCm39) D160G Het
Fgfr4 A T 13: 55,315,837 (GRCm39) probably null Het
Fpr1 A T 17: 18,097,626 (GRCm39) V121D probably damaging Het
Gabbr1 A G 17: 37,362,049 (GRCm39) K218E probably benign Het
Galnt12 T C 4: 47,113,822 (GRCm39) L372P Het
Gldc A G 19: 30,114,593 (GRCm39) F439S Het
Gm6465 A G 5: 11,896,726 (GRCm39) T32A possibly damaging Het
Has2 T C 15: 56,545,588 (GRCm39) R5G probably benign Het
Hexb T C 13: 97,317,599 (GRCm39) Y366C probably damaging Het
Ier2 C T 8: 85,389,266 (GRCm39) V39I probably benign Het
Ifi214 A G 1: 173,355,434 (GRCm39) S125P possibly damaging Het
Kcnk15 A G 2: 163,700,451 (GRCm39) D230G probably benign Het
Kdm3b A T 18: 34,927,558 (GRCm39) Y140F probably benign Het
Klk1b11 T C 7: 43,427,055 (GRCm39) V140A probably damaging Het
Klra5 C T 6: 129,886,911 (GRCm39) C39Y probably benign Het
Ltbp2 T C 12: 84,856,426 (GRCm39) I699M probably damaging Het
Mak C A 13: 41,201,594 (GRCm39) E256* probably null Het
Mark3 C A 12: 111,606,376 (GRCm39) N496K probably benign Het
Mex3c A G 18: 73,723,397 (GRCm39) T497A probably benign Het
Myt1 A G 2: 181,467,805 (GRCm39) I1160V possibly damaging Het
Notch1 T C 2: 26,349,587 (GRCm39) T2518A probably benign Het
Nsg1 A G 5: 38,302,088 (GRCm39) Y108H probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Obscn A G 11: 58,960,103 (GRCm39) S3255P possibly damaging Het
Or5w18 A G 2: 87,633,482 (GRCm39) T246A probably benign Het
Plxna4 A G 6: 32,162,496 (GRCm39) V1339A possibly damaging Het
Ppp2r5e C T 12: 75,506,468 (GRCm39) R433H possibly damaging Het
Pwwp2a T A 11: 43,596,721 (GRCm39) C629S probably benign Het
Rasl10a T A 11: 5,008,473 (GRCm39) S56R probably benign Het
Rhob A G 12: 8,549,124 (GRCm39) V170A probably damaging Het
Rmdn3 G T 2: 118,969,847 (GRCm39) Q405K probably benign Het
Rpap3 G A 15: 97,589,184 (GRCm39) T250M possibly damaging Het
Rraga T C 4: 86,494,796 (GRCm39) I214T probably damaging Het
Rundc3a A T 11: 102,290,862 (GRCm39) Q315L probably benign Het
Sh3bgr T A 16: 96,001,931 (GRCm39) S10T probably benign Het
Skint6 A T 4: 112,985,102 (GRCm39) S421R possibly damaging Het
Spag16 G C 1: 70,420,459 (GRCm39) L482F probably damaging Het
Sppl2a A G 2: 126,769,743 (GRCm39) S38P probably benign Het
Tex14 T A 11: 87,413,423 (GRCm39) probably null Het
Tmem181a G A 17: 6,346,048 (GRCm39) V181M possibly damaging Het
Traf3 T A 12: 111,228,294 (GRCm39) S502T probably benign Het
Trav9n-4 T G 14: 53,532,236 (GRCm39) V30G probably damaging Het
Trpm2 C A 10: 77,765,122 (GRCm39) V960L probably benign Het
Unc13b T A 4: 43,173,649 (GRCm39) D1492E unknown Het
Usp44 A G 10: 93,681,645 (GRCm39) T32A probably benign Het
Vmn1r38 A G 6: 66,753,612 (GRCm39) M168T probably benign Het
Vmn1r9 A G 6: 57,048,788 (GRCm39) I288V probably benign Het
Zfhx3 A G 8: 109,676,794 (GRCm39) T2615A 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
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
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'- AGGTTTTCCAAGGAAGGAACTG -3'
(R):5'- AACCTGGGCAGCATAGTTCAG -3'

Sequencing Primer
(F):5'- TTCCAAGGAAGGAACTGCTGTTG -3'
(R):5'- TGTAAAGAATGCAACCCAGGTC -3'
Posted On 2022-01-20