Incidental Mutation 'IGL02232:Rlf'
ID 285755
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02232
Quality Score
Status
Chromosome 4
Chromosomal Location 121003080-121072318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121039811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 200 (T200I)
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: T200I

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: T200I

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 noncoding transcript
Transcript: ENSMUST00000142647
SMART Domains Protein: ENSMUSP00000116831
Gene: ENSMUSG00000049878

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168615
AA Change: T90I

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: T90I

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
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,530,764 (GRCm39) V199A possibly damaging Het
Aco1 T C 4: 40,175,996 (GRCm39) M210T probably damaging Het
Actr10 G A 12: 70,990,289 (GRCm39) E114K probably benign Het
Adam6b T C 12: 113,454,764 (GRCm39) M527T probably benign Het
Ahi1 C T 10: 20,857,274 (GRCm39) T623M probably damaging Het
Aldh8a1 T C 10: 21,271,545 (GRCm39) W424R probably damaging Het
Apeh A T 9: 107,969,071 (GRCm39) S299T probably benign Het
Bbs5 A C 2: 69,485,895 (GRCm39) I147L probably benign Het
Bmp2k T G 5: 97,179,109 (GRCm39) probably benign Het
C2cd6 A G 1: 59,101,651 (GRCm39) F336S probably damaging Het
Cd274 T A 19: 29,359,938 (GRCm39) L248M probably damaging Het
Chsy3 T A 18: 59,542,383 (GRCm39) M507K possibly damaging Het
Clip2 T C 5: 134,531,984 (GRCm39) N572S probably damaging Het
Commd9 A G 2: 101,731,324 (GRCm39) T170A probably benign Het
Cpt1c G A 7: 44,609,580 (GRCm39) S674L probably damaging Het
Dhx33 C A 11: 70,878,030 (GRCm39) R671L probably damaging Het
Dnah5 G A 15: 28,299,386 (GRCm39) E1583K probably damaging Het
Eed G T 7: 89,621,493 (GRCm39) N51K probably damaging Het
Efcab14 A G 4: 115,617,261 (GRCm39) probably benign Het
Ephb2 A C 4: 136,384,762 (GRCm39) M884R probably damaging Het
Foxn2 G T 17: 88,770,479 (GRCm39) A109S probably benign Het
Fut1 A T 7: 45,268,871 (GRCm39) D220V probably damaging Het
Gm6468 C T 5: 95,429,066 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,515 (GRCm39) noncoding transcript Het
Gm9772 C T 17: 22,226,031 (GRCm39) probably benign Het
Golph3 G T 15: 12,349,578 (GRCm39) M199I probably benign Het
Itpr1 A G 6: 108,394,884 (GRCm39) N1666D probably damaging Het
Itprid1 A G 6: 55,944,922 (GRCm39) T548A unknown Het
Kif12 C T 4: 63,084,732 (GRCm39) E529K probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Lrrc52 T A 1: 167,293,949 (GRCm39) N112I probably damaging Het
Msi1 T A 5: 115,579,506 (GRCm39) probably null Het
Nasp T G 4: 116,461,997 (GRCm39) E170A probably damaging Het
Necab2 T A 8: 120,189,391 (GRCm39) V187E probably damaging Het
Obscn T C 11: 58,929,804 (GRCm39) E5790G probably damaging Het
Or7e176 A T 9: 20,171,511 (GRCm39) D125V probably damaging Het
Or9a7 A G 6: 40,520,980 (GRCm39) L311P probably damaging Het
Pard3b C T 1: 62,205,541 (GRCm39) T445I probably damaging Het
Pcdh10 A G 3: 45,335,377 (GRCm39) I564V probably benign Het
Pcdhb22 T A 18: 37,653,602 (GRCm39) L690Q probably damaging Het
Pemt T A 11: 59,867,680 (GRCm39) T115S probably damaging Het
Plcl2 A G 17: 50,913,669 (GRCm39) N226S possibly damaging Het
Ppp6r1 A G 7: 4,636,341 (GRCm39) S750P probably damaging Het
Prtg T C 9: 72,758,771 (GRCm39) V375A probably damaging Het
Psd3 A C 8: 68,356,797 (GRCm39) M673R probably damaging Het
Ptprt T C 2: 161,372,437 (GRCm39) I1392V probably damaging Het
Robo1 G A 16: 72,768,872 (GRCm39) G479D possibly damaging Het
Rpe65 A G 3: 159,309,988 (GRCm39) D87G possibly damaging Het
Sema3g T C 14: 30,943,181 (GRCm39) V148A probably damaging Het
Sgms2 G A 3: 131,116,833 (GRCm39) P341S probably benign Het
Skint7 A T 4: 111,839,225 (GRCm39) Q173L possibly damaging Het
Slc2a9 G A 5: 38,594,013 (GRCm39) A150V probably benign Het
Slc35c2 A G 2: 165,124,801 (GRCm39) L58P probably damaging Het
Slc7a6 G A 8: 106,923,206 (GRCm39) C495Y possibly damaging Het
Smurf1 G A 5: 144,823,248 (GRCm39) P458L probably damaging Het
Spag1 C T 15: 36,221,710 (GRCm39) T601I probably benign Het
Spink8 A T 9: 109,649,665 (GRCm39) Q49L possibly damaging Het
Spout1 A T 2: 30,065,266 (GRCm39) Y284N probably damaging Het
Srrm1 A T 4: 135,080,427 (GRCm39) M1K probably null Het
Stxbp5l A G 16: 37,150,257 (GRCm39) L116P probably damaging Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tmem41b A G 7: 109,577,960 (GRCm39) V108A probably damaging Het
Tra2b A G 16: 22,067,790 (GRCm39) probably benign Het
Trio G T 15: 27,902,647 (GRCm39) H271Q probably benign Het
Ttn A G 2: 76,723,263 (GRCm39) probably benign Het
Usp51 A T X: 151,791,669 (GRCm39) H421L probably damaging Het
Vmn2r29 A T 7: 7,244,810 (GRCm39) W355R probably damaging Het
Vpreb1a T C 16: 16,686,603 (GRCm39) N96D possibly damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zp3r C A 1: 130,524,404 (GRCm39) C213F 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
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
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
Posted On 2015-04-16