Incidental Mutation 'R0053:AY761185'
ID 64327
Institutional Source Beutler Lab
Gene Symbol AY761185
Ensembl Gene ENSMUSG00000079120
Gene Name cDNA sequence AY761185
Synonyms CRS4C-6
MMRRC Submission 038347-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R0053 (G1)
Quality Score 150
Status Validated
Chromosome 8
Chromosomal Location 21433710-21434726 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 21434546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110758]
AlphaFold Q5ERI8
Predicted Effect probably benign
Transcript: ENSMUST00000110758
SMART Domains Protein: ENSMUSP00000106386
Gene: ENSMUSG00000079120

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 2.2e-24 PFAM
low complexity region 61 89 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.5%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A T 2: 163,574,212 (GRCm39) V148D probably damaging Het
Alpi T C 1: 87,026,512 (GRCm39) D493G probably benign Het
Atp10b A G 11: 43,107,391 (GRCm39) probably benign Het
Cadm1 C T 9: 47,710,712 (GRCm39) T205I probably damaging Het
Capn3 A G 2: 120,322,318 (GRCm39) I413V possibly damaging Het
Cblb C T 16: 51,963,164 (GRCm39) T369I probably damaging Het
Ccdc54 T A 16: 50,410,597 (GRCm39) N223I probably benign Het
Cdc25c A G 18: 34,868,488 (GRCm39) V294A probably benign Het
Cep170 A T 1: 176,609,946 (GRCm39) S122T possibly damaging Het
Chd1 A G 17: 15,967,451 (GRCm39) N849D probably damaging Het
Cspg4b T C 13: 113,505,023 (GRCm39) W2051R probably benign Het
Dpp3 A G 19: 4,973,154 (GRCm39) C147R probably damaging Het
Dst A G 1: 34,333,631 (GRCm39) probably null Het
Fbxw9 T A 8: 85,791,083 (GRCm39) L250Q probably damaging Het
Gpr75 A T 11: 30,842,571 (GRCm39) Q492L possibly damaging Het
Gramd4 T A 15: 86,014,339 (GRCm39) probably benign Het
Hivep2 T C 10: 14,007,865 (GRCm39) C1488R probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Inava C T 1: 136,155,288 (GRCm39) V106I probably benign Het
Insr A G 8: 3,205,683 (GRCm39) S1369P probably damaging Het
Insrr A C 3: 87,707,759 (GRCm39) D67A probably damaging Het
Irf2 T A 8: 47,271,886 (GRCm39) Y158N probably benign Het
Katnbl1 A G 2: 112,234,586 (GRCm39) R23G probably benign Het
Lamb2 T A 9: 108,363,936 (GRCm39) C987* probably null Het
Lzts2 T C 19: 45,014,746 (GRCm39) probably benign Het
Mmp14 T A 14: 54,676,109 (GRCm39) probably benign Het
Mycbpap A G 11: 94,402,562 (GRCm39) Y258H probably damaging Het
Nav3 A G 10: 109,602,778 (GRCm39) probably benign Het
Or10j7 T C 1: 173,011,845 (GRCm39) D52G probably benign Het
Or4c100 T A 2: 88,356,507 (GRCm39) N193K probably damaging Het
Parp10 T A 15: 76,126,446 (GRCm39) L247F probably damaging Het
Pcsk6 C T 7: 65,633,451 (GRCm39) probably benign Het
Pgap3 A T 11: 98,281,924 (GRCm39) V129D probably benign Het
Pibf1 A G 14: 99,377,993 (GRCm39) Y373C probably damaging Het
Plcb1 A G 2: 135,136,835 (GRCm39) E310G probably benign Het
Plin3 T C 17: 56,586,892 (GRCm39) D385G probably damaging Het
Pole A T 5: 110,441,206 (GRCm39) D220V probably damaging Het
Ptprk T A 10: 28,351,105 (GRCm39) F533I probably damaging Het
Resf1 T A 6: 149,229,088 (GRCm39) D711E probably benign Het
Rufy1 A T 11: 50,292,292 (GRCm39) M499K probably benign Het
Scn1a T G 2: 66,130,119 (GRCm39) D1232A probably benign Het
Sec23ip T C 7: 128,346,891 (GRCm39) L49P probably damaging Het
Sf3b1 G A 1: 55,039,532 (GRCm39) Q698* probably null Het
Shprh A T 10: 11,070,116 (GRCm39) probably null Het
Snd1 C A 6: 28,745,334 (GRCm39) probably benign Het
Stab1 C T 14: 30,862,644 (GRCm39) A2260T possibly damaging Het
Stpg2 A G 3: 138,918,082 (GRCm39) Q60R probably benign Het
Strn T C 17: 78,964,363 (GRCm39) H687R possibly damaging Het
Tgfb3 A T 12: 86,124,603 (GRCm39) I35N probably damaging Het
Tnks2 T C 19: 36,852,765 (GRCm39) S166P probably damaging Het
Tyw5 G A 1: 57,440,597 (GRCm39) T55M probably damaging Het
Usp19 A G 9: 108,374,369 (GRCm39) probably null Het
Zfp13 A T 17: 23,795,122 (GRCm39) I483N probably damaging Het
Other mutations in AY761185
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:AY761185 APN 8 21,434,611 (GRCm39) missense possibly damaging 0.92
IGL03141:AY761185 APN 8 21,434,576 (GRCm39) missense possibly damaging 0.56
FR4589:AY761185 UTSW 8 21,433,919 (GRCm39) frame shift probably null
R0053:AY761185 UTSW 8 21,434,546 (GRCm39) splice site probably benign
R0270:AY761185 UTSW 8 21,434,616 (GRCm39) missense possibly damaging 0.77
R5274:AY761185 UTSW 8 21,433,889 (GRCm39) missense unknown
R6636:AY761185 UTSW 8 21,434,556 (GRCm39) splice site probably null
R6888:AY761185 UTSW 8 21,434,571 (GRCm39) nonsense probably null
RF010:AY761185 UTSW 8 21,433,927 (GRCm39) frame shift probably null
RF025:AY761185 UTSW 8 21,433,918 (GRCm39) frame shift probably null
RF030:AY761185 UTSW 8 21,433,916 (GRCm39) frame shift probably null
RF033:AY761185 UTSW 8 21,433,904 (GRCm39) small deletion probably benign
RF041:AY761185 UTSW 8 21,433,928 (GRCm39) frame shift probably null
RF059:AY761185 UTSW 8 21,433,930 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TACTGGTGACATCACAGCCAGCAC -3'
(R):5'- CAGCCATGAAGACACTCGTTCTCC -3'

Sequencing Primer
(F):5'- tgtttttTAAGCAAAACAGACTCTTC -3'
(R):5'- GAAGACACTCGTTCTCCTCTCTG -3'
Posted On 2013-08-06