Incidental Mutation 'R8142:Rnase13'
ID 632603
Institutional Source Beutler Lab
Gene Symbol Rnase13
Ensembl Gene ENSMUSG00000068392
Gene Name ribonuclease, RNase A family, 13 (non-active)
Synonyms
MMRRC Submission 067570-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R8142 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 52158819-52160230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52159893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 82 (I82T)
Ref Sequence ENSEMBL: ENSMUSP00000087203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008957] [ENSMUST00000089771] [ENSMUST00000177625]
AlphaFold Q5GAM7
Predicted Effect probably benign
Transcript: ENSMUST00000008957
SMART Domains Protein: ENSMUSP00000008957
Gene: ENSMUSG00000008813

DomainStartEndE-ValueType
Pfam:p25-alpha 6 167 1.6e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089771
AA Change: I82T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087203
Gene: ENSMUSG00000068392
AA Change: I82T

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:RnaseA 27 149 1.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177625
SMART Domains Protein: ENSMUSP00000136454
Gene: ENSMUSG00000008813

DomainStartEndE-ValueType
Pfam:p25-alpha 5 169 5.9e-57 PFAM
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1e2 A T 17: 87,252,083 (GRCm39) I105N possibly damaging Het
Azi2 A G 9: 117,878,475 (GRCm39) D105G probably damaging Het
Bmpr2 T C 1: 59,909,465 (GRCm39) S980P probably damaging Het
Ccno T G 13: 113,125,489 (GRCm39) L151R probably damaging Het
Cdh2 A C 18: 16,734,791 (GRCm39) I801S probably benign Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Dab1 T A 4: 104,535,921 (GRCm39) V110D probably damaging Het
Dnah3 T C 7: 119,660,189 (GRCm39) T828A probably benign Het
Dnah5 G T 15: 28,384,519 (GRCm39) V3088L probably benign Het
Dtd2 T A 12: 52,046,593 (GRCm39) D82V probably damaging Het
Dusp5 T C 19: 53,525,912 (GRCm39) F185L probably damaging Het
Epha10 A G 4: 124,779,639 (GRCm39) T162A probably damaging Het
Fat4 A T 3: 38,945,352 (GRCm39) D1415V probably damaging Het
Fitm1 T C 14: 55,813,247 (GRCm39) Y37H possibly damaging Het
Flg2 G T 3: 93,122,782 (GRCm39) E1651* probably null Het
Ifit3 G T 19: 34,564,901 (GRCm39) C149F probably damaging Het
Lepr C A 4: 101,622,616 (GRCm39) H465Q possibly damaging Het
Ltn1 A C 16: 87,178,529 (GRCm39) S1567A probably benign Het
Marchf1 T C 8: 66,908,778 (GRCm39) V166A probably benign Het
Marveld2 T C 13: 100,737,448 (GRCm39) H424R possibly damaging Het
Mypop A G 7: 18,735,051 (GRCm39) T383A unknown Het
Ngef G C 1: 87,468,463 (GRCm39) R99G probably benign Het
Nherf4 A G 9: 44,162,078 (GRCm39) probably null Het
Npepps G T 11: 97,109,398 (GRCm39) A726D probably damaging Het
Or6c63-ps1 T A 10: 128,900,519 (GRCm39) D9V probably benign Het
Pcdhgb4 A G 18: 37,854,166 (GRCm39) D187G probably damaging Het
Per2 T C 1: 91,349,269 (GRCm39) E1034G possibly damaging Het
Pira1 A G 7: 3,739,842 (GRCm39) S418P possibly damaging Het
Pkhd1l1 G A 15: 44,378,327 (GRCm39) R1027H probably benign Het
Pon2 A T 6: 5,266,239 (GRCm39) V260D probably benign Het
Sbno1 A G 5: 124,546,608 (GRCm39) S194P probably benign Het
Serpinb6c T A 13: 34,064,096 (GRCm39) I320L probably benign Het
Sh3rf3 C T 10: 58,885,205 (GRCm39) R363* probably null Het
Slc11a1 T C 1: 74,424,418 (GRCm39) F500L probably benign Het
Slc1a4 A G 11: 20,257,890 (GRCm39) probably null Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Sorcs2 T C 5: 36,219,958 (GRCm39) N362S possibly damaging Het
Stau2 A G 1: 16,530,575 (GRCm39) S115P unknown Het
Stk38l A G 6: 146,660,070 (GRCm39) N34S probably benign Het
Tmem201 T C 4: 149,803,114 (GRCm39) T585A probably benign Het
Ttc6 A T 12: 57,744,258 (GRCm39) I1297F possibly damaging Het
Uncx A G 5: 139,532,655 (GRCm39) D240G possibly damaging Het
Vmn2r88 A G 14: 51,651,564 (GRCm39) I293V Het
Vps11 T C 9: 44,265,852 (GRCm39) T476A probably benign Het
Vrtn T C 12: 84,697,395 (GRCm39) L715P probably damaging Het
Wdr72 T G 9: 74,046,949 (GRCm39) V65G probably damaging Het
Zbtb21 T C 16: 97,752,675 (GRCm39) E536G probably damaging Het
Zbtb34 G T 2: 33,302,493 (GRCm39) S16* probably null Het
Zfhx2 G A 14: 55,310,895 (GRCm39) L600F possibly damaging Het
Other mutations in Rnase13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01859:Rnase13 APN 14 52,159,760 (GRCm39) missense probably damaging 1.00
PIT1430001:Rnase13 UTSW 14 52,159,987 (GRCm39) missense probably damaging 1.00
R4902:Rnase13 UTSW 14 52,160,052 (GRCm39) missense probably benign 0.03
R6019:Rnase13 UTSW 14 52,159,860 (GRCm39) missense probably damaging 1.00
R8264:Rnase13 UTSW 14 52,159,914 (GRCm39) missense probably damaging 0.99
R8309:Rnase13 UTSW 14 52,159,893 (GRCm39) missense probably damaging 1.00
R8885:Rnase13 UTSW 14 52,159,940 (GRCm39) nonsense probably null
R9502:Rnase13 UTSW 14 52,159,825 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GTCCCTAGTAGAGACCAATGATACC -3'
(R):5'- GCATCACAATTCAGACGGCC -3'

Sequencing Primer
(F):5'- TGATACCTATAGGCTCAGCATCATGC -3'
(R):5'- TTCAGACGGCCATCAAGAACTTC -3'
Posted On 2020-06-30