Incidental Mutation 'IGL01069:Rtkn2'
ID 52047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtkn2
Ensembl Gene ENSMUSG00000037846
Gene Name rhotekin 2
Synonyms Mbf, RTKN2, Plekhk1, B130039D23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL01069
Quality Score
Status
Chromosome 10
Chromosomal Location 67815371-67894259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67877494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 518 (D518G)
Ref Sequence ENSEMBL: ENSMUSP00000116166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068994] [ENSMUST00000105437] [ENSMUST00000117086] [ENSMUST00000118160] [ENSMUST00000147556]
AlphaFold Q14B46
Predicted Effect probably benign
Transcript: ENSMUST00000068994
AA Change: D521G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070717
Gene: ENSMUSG00000037846
AA Change: D521G

DomainStartEndE-ValueType
Blast:Hr1 12 75 4e-30 BLAST
Pfam:Anillin 93 243 4.9e-37 PFAM
PH 282 389 1.11e-6 SMART
low complexity region 529 543 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105437
AA Change: D519G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101077
Gene: ENSMUSG00000037846
AA Change: D519G

DomainStartEndE-ValueType
Blast:Hr1 12 75 4e-30 BLAST
Pfam:Anillin 90 241 3.1e-37 PFAM
PH 280 387 1.11e-6 SMART
low complexity region 527 541 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117086
AA Change: D518G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112419
Gene: ENSMUSG00000037846
AA Change: D518G

DomainStartEndE-ValueType
Blast:Hr1 12 75 4e-30 BLAST
Pfam:Anillin 90 240 4.9e-37 PFAM
PH 279 386 1.11e-6 SMART
low complexity region 526 540 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118160
AA Change: D521G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112946
Gene: ENSMUSG00000037846
AA Change: D521G

DomainStartEndE-ValueType
Blast:Hr1 12 75 4e-30 BLAST
Pfam:Anillin 94 242 1.4e-49 PFAM
PH 282 389 1.11e-6 SMART
low complexity region 529 543 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123147
Predicted Effect probably benign
Transcript: ENSMUST00000147556
AA Change: D518G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000116166
Gene: ENSMUSG00000037846
AA Change: D518G

DomainStartEndE-ValueType
Blast:Hr1 12 75 4e-30 BLAST
Pfam:Anillin 90 240 4.9e-37 PFAM
PH 279 386 1.11e-6 SMART
low complexity region 526 540 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Rtkn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Rtkn2 APN 10 67,861,349 (GRCm39) missense possibly damaging 0.83
IGL01865:Rtkn2 APN 10 67,871,705 (GRCm39) missense probably benign 0.44
IGL03074:Rtkn2 APN 10 67,877,551 (GRCm39) missense probably damaging 0.99
IGL03383:Rtkn2 APN 10 67,853,667 (GRCm39) missense probably damaging 1.00
PIT4520001:Rtkn2 UTSW 10 67,823,291 (GRCm39) missense probably damaging 1.00
R1167:Rtkn2 UTSW 10 67,833,450 (GRCm39) missense probably damaging 1.00
R2166:Rtkn2 UTSW 10 67,877,526 (GRCm39) missense possibly damaging 0.55
R2323:Rtkn2 UTSW 10 67,837,764 (GRCm39) missense probably damaging 1.00
R3826:Rtkn2 UTSW 10 67,833,456 (GRCm39) splice site probably null
R3827:Rtkn2 UTSW 10 67,833,456 (GRCm39) splice site probably null
R3828:Rtkn2 UTSW 10 67,833,456 (GRCm39) splice site probably null
R3829:Rtkn2 UTSW 10 67,833,456 (GRCm39) splice site probably null
R4742:Rtkn2 UTSW 10 67,839,144 (GRCm39) missense possibly damaging 0.72
R4867:Rtkn2 UTSW 10 67,837,757 (GRCm39) missense probably damaging 0.99
R4871:Rtkn2 UTSW 10 67,841,463 (GRCm39) missense probably damaging 1.00
R4936:Rtkn2 UTSW 10 67,877,745 (GRCm39) makesense probably null
R5009:Rtkn2 UTSW 10 67,877,239 (GRCm39) missense probably benign 0.14
R5709:Rtkn2 UTSW 10 67,837,800 (GRCm39) missense probably benign 0.31
R6295:Rtkn2 UTSW 10 67,815,529 (GRCm39) start gained probably benign
R6307:Rtkn2 UTSW 10 67,871,662 (GRCm39) missense possibly damaging 0.60
R6751:Rtkn2 UTSW 10 67,877,283 (GRCm39) missense probably benign 0.43
R6823:Rtkn2 UTSW 10 67,862,462 (GRCm39) missense probably damaging 0.96
R7011:Rtkn2 UTSW 10 67,815,495 (GRCm39) unclassified probably benign
R7369:Rtkn2 UTSW 10 67,877,259 (GRCm39) missense probably damaging 0.96
R7403:Rtkn2 UTSW 10 67,841,466 (GRCm39) missense probably benign 0.18
R7760:Rtkn2 UTSW 10 67,841,439 (GRCm39) missense probably damaging 1.00
R7803:Rtkn2 UTSW 10 67,815,643 (GRCm39) critical splice donor site probably null
R7992:Rtkn2 UTSW 10 67,875,923 (GRCm39) missense probably damaging 1.00
R9034:Rtkn2 UTSW 10 67,841,416 (GRCm39) missense probably damaging 1.00
R9301:Rtkn2 UTSW 10 67,871,677 (GRCm39) missense possibly damaging 0.85
R9383:Rtkn2 UTSW 10 67,839,094 (GRCm39) missense possibly damaging 0.94
Z1177:Rtkn2 UTSW 10 67,861,433 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21