Incidental Mutation 'IGL02645:Rsl1'
ID 301930
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsl1
Ensembl Gene ENSMUSG00000058900
Gene Name regulator of sex limited protein 1
Synonyms rslcan-9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02645
Quality Score
Status
Chromosome 13
Chromosomal Location 67173182-67184044 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67182209 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 240 (F240L)
Ref Sequence ENSEMBL: ENSMUSP00000021997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021997] [ENSMUST00000225334]
AlphaFold Q7M6Y1
Predicted Effect probably benign
Transcript: ENSMUST00000021997
AA Change: F240L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000021997
Gene: ENSMUSG00000058900
AA Change: F240L

DomainStartEndE-ValueType
KRAB 15 75 2.67e-33 SMART
ZnF_C2H2 119 141 1.92e-2 SMART
ZnF_C2H2 147 169 1.6e-4 SMART
ZnF_C2H2 175 197 1.28e-3 SMART
ZnF_C2H2 203 225 1.69e-3 SMART
ZnF_C2H2 259 281 3.83e-2 SMART
ZnF_C2H2 287 309 5.14e-3 SMART
ZnF_C2H2 315 337 6.78e-3 SMART
ZnF_C2H2 343 365 8.94e-3 SMART
ZnF_C2H2 371 393 9.44e-2 SMART
ZnF_C2H2 399 421 3.58e-2 SMART
ZnF_C2H2 427 449 5.5e-3 SMART
ZnF_C2H2 455 477 4.72e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000225334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225774
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik A G 4: 41,517,080 V28A probably damaging Het
Ang4 T C 14: 51,764,347 Y48C probably damaging Het
Aox2 T A 1: 58,334,724 M848K probably damaging Het
Apol7c A T 15: 77,528,883 S56T probably benign Het
Asic4 G A 1: 75,473,354 probably benign Het
Asxl1 A G 2: 153,392,857 K162R possibly damaging Het
BC053393 A G 11: 46,586,220 R167G probably benign Het
Car12 T A 9: 66,747,679 H130Q probably benign Het
Cars T C 7: 143,557,909 E737G probably damaging Het
Ccdc141 G A 2: 77,074,867 R412* probably null Het
Cd36 T C 5: 17,785,880 T421A probably benign Het
Clasp2 T G 9: 113,890,061 M758R probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ebf4 A G 2: 130,361,841 K471E probably damaging Het
Fat2 T A 11: 55,282,828 D2353V probably damaging Het
Gm10136 A G 19: 29,003,740 probably benign Het
Intu A G 3: 40,701,272 I930V probably benign Het
Ndrg2 T A 14: 51,906,522 M300L possibly damaging Het
Nhs A G X: 162,159,058 S111P probably benign Het
Nme8 T A 13: 19,660,585 L111F probably damaging Het
Nol8 T A 13: 49,665,471 probably null Het
Olfr1148 C T 2: 87,833,615 T192M probably benign Het
Olfr1221 T C 2: 89,111,619 R298G probably benign Het
Olfr1249 T C 2: 89,630,335 T188A probably benign Het
Olfr1511 T A 14: 52,390,501 T91S possibly damaging Het
Pcdhac2 G A 18: 37,145,239 G424D probably damaging Het
Pex3 T G 10: 13,546,429 E42D possibly damaging Het
Plxnb1 C T 9: 109,114,243 probably benign Het
Rpe65 T A 3: 159,606,491 I209N probably damaging Het
Rttn A T 18: 89,110,686 I1921F probably benign Het
Scn3a A T 2: 65,514,527 F539Y probably benign Het
Secisbp2 T A 13: 51,682,460 M767K probably damaging Het
Sipa1l3 C T 7: 29,328,980 probably null Het
Slfn8 T C 11: 83,003,554 N753S possibly damaging Het
Sympk T G 7: 19,052,424 V984G probably damaging Het
Tacr3 A T 3: 134,861,182 D272V possibly damaging Het
Tnpo3 G T 6: 29,562,900 S606* probably null Het
Zfp804a T C 2: 82,053,876 L29P possibly damaging Het
Zfp94 C T 7: 24,303,754 G88R probably benign Het
Other mutations in Rsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Rsl1 APN 13 67181798 missense probably benign 0.04
IGL01120:Rsl1 APN 13 67177166 splice site probably benign
IGL02041:Rsl1 APN 13 67176548 missense probably damaging 1.00
IGL02316:Rsl1 APN 13 67177056 splice site probably null
IGL02632:Rsl1 APN 13 67182163 missense probably damaging 0.97
R0097:Rsl1 UTSW 13 67181902 missense probably damaging 0.99
R1644:Rsl1 UTSW 13 67177165 splice site probably benign
R2040:Rsl1 UTSW 13 67182081 missense probably damaging 1.00
R2206:Rsl1 UTSW 13 67182828 missense probably benign
R2207:Rsl1 UTSW 13 67182828 missense probably benign
R4235:Rsl1 UTSW 13 67177162 critical splice donor site probably null
R4995:Rsl1 UTSW 13 67182249 missense possibly damaging 0.60
R5118:Rsl1 UTSW 13 67181981 missense probably damaging 1.00
R6733:Rsl1 UTSW 13 67177142 missense probably benign
R6748:Rsl1 UTSW 13 67182624 missense probably benign 0.00
R7397:Rsl1 UTSW 13 67182037 missense possibly damaging 0.57
R7531:Rsl1 UTSW 13 67176502 missense possibly damaging 0.92
R7729:Rsl1 UTSW 13 67182220 missense possibly damaging 0.95
R7963:Rsl1 UTSW 13 67182109 missense probably damaging 0.98
R9188:Rsl1 UTSW 13 67182121 missense probably benign 0.06
R9310:Rsl1 UTSW 13 67176446 critical splice acceptor site probably null
R9653:Rsl1 UTSW 13 67182042 missense probably damaging 1.00
Posted On 2015-04-16