Incidental Mutation 'RF033:AY761185'
ID 604453
Institutional Source Beutler Lab
Gene Symbol AY761185
Ensembl Gene ENSMUSG00000079120
Gene Name cDNA sequence AY761185
Synonyms CRS4C-6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # RF033 (G1)
Quality Score 217.468
Status Not validated
Chromosome 8
Chromosomal Location 21433710-21434726 bp(-) (GRCm39)
Type of Mutation small deletion (3 aa in frame mutation)
DNA Base Change (assembly) CCCGGGCACT to C at 21433904 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: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI837181 GCG GCGTCG 19: 5,475,252 (GRCm39) probably benign Het
AI837181 CG CGGTG 19: 5,475,265 (GRCm39) probably benign Het
Arid1b GGGG GGGGGGG 17: 5,045,860 (GRCm39) probably benign Het
Chga AGC AGCTGC 12: 102,527,655 (GRCm39) probably benign Het
Cul9 CCT CCTTCT 17: 46,811,780 (GRCm39) probably benign Het
Dbr1 GAGGAG GAGGAGTAGGAG 9: 99,465,750 (GRCm39) probably null Het
Dcdc2b GCTGC GCTGCCAGGCCTGC 4: 129,503,444 (GRCm39) probably benign Het
Dennd10 ACTC ACTCCTC 19: 60,803,056 (GRCm39) probably benign Het
E4f1 AGGC AGGCGGC 17: 24,674,157 (GRCm39) probably benign Het
Fbrsl1 GTG GTGAGTGTGCTGATG 5: 110,525,991 (GRCm39) probably benign Het
Gab3 TTC TTCGTC X: 74,043,607 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,629 (GRCm39) probably benign Het
Gm47955 TGG TGGTTGTGGCGG 1: 82,938,246 (GRCm39) probably benign Het
Gm5475 GAAAGGTGGAAGGAAA GAA 15: 100,325,025 (GRCm39) probably null Het
Gm8369 GTGTGT GTGTGTCTGTGT 19: 11,489,142 (GRCm39) probably benign Het
Heatr3 TTAT TTATGTAT 8: 88,883,084 (GRCm39) probably benign Het
Il2 AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTGCTGCTGCTG 3: 37,179,913 (GRCm39) probably benign Het
Il2 GG GGGCTTGGAGTGTG 3: 37,179,991 (GRCm39) probably benign Het
Lkaaear1 CCAGCTCCAGCT CCAGCTCCAGCTTCAGCTCCAGCT 2: 181,339,381 (GRCm39) probably benign Het
Luzp1 A AGGTGTCCTCTTCAGC 4: 136,270,507 (GRCm39) probably benign Het
Mamld1 GCA GCATCA X: 70,162,439 (GRCm39) probably benign Het
Map1a CAGCTCCAGCTCCAGCTCCA CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCGAGCTCCAGCTCCAGCTCCA 2: 121,136,780 (GRCm39) probably benign Het
Med12l CAG CAGAAG 3: 59,183,402 (GRCm39) probably benign Het
Med12l GC GCATC 3: 59,183,416 (GRCm39) probably benign Het
Med12l CAG CAGAAG 3: 59,183,408 (GRCm39) probably benign Het
Nalf2 CG CGCCGCTG X: 98,864,979 (GRCm39) probably benign Het
Ncoa6 TGCAGC TGC 2: 155,263,651 (GRCm39) probably benign Het
Nefh CCTCACCTGGGGACTTGG CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGG 11: 4,891,039 (GRCm39) probably benign Het
Nefh GGGGACTTG GGGGACTTGTCCTCACCTGGGACTTG 11: 4,891,029 (GRCm39) probably null Het
Nf2 AAAAG A 11: 4,779,936 (GRCm39) probably null Het
Nusap1 GCAAGCTGAGA GCAAGCTGAGATACACGTTAGCAGTGAGGTTCAAGCTGAGA 2: 119,458,081 (GRCm39) probably benign Het
P4ha3 GGGGG GGGGGG 7: 99,960,017 (GRCm39) probably null Het
Pdia4 ATCCTCTTCCTC ATC 6: 47,785,222 (GRCm39) probably benign Het
Pkhd1l1 TTT TTTTTTTTTTCTT 15: 44,421,902 (GRCm39) probably benign Het
Prr5l GCCTC G 2: 101,627,918 (GRCm39) probably null Het
Rbm12 TTG TTGTGGGACCAGGTATTGCGGGACCAGGTATTG 2: 155,938,002 (GRCm39) probably benign Het
Rbm12 TG TGTGGGACCAGGTATTGCGGGACCAGGTATTG 2: 155,938,003 (GRCm39) probably benign Het
Rbm12 G GTGGGACCAGGTATTGCGGGACCAGGTATTG 2: 155,938,004 (GRCm39) probably benign Het
Rbm12 GTATTG GTATTGTGGGACCAGGTATTGCGGGACCAGGTATTG 2: 155,937,999 (GRCm39) probably benign Het
Rbm12 TATTG TATTGTGGGACCAGGTATTGCGGGACCAGGCATTG 2: 155,938,000 (GRCm39) probably benign Het
Spmap2l ATCCTCCCCAGTCCCGCAAGGCCAG ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG 5: 77,164,252 (GRCm39) probably benign Het
Spmap2l G GCGATCCTCCCCAGTCCCGCAAGGCCAC 5: 77,164,276 (GRCm39) probably benign Het
Tmem59 TGTTT TGTTTGTTGGTTT 4: 107,047,725 (GRCm39) probably benign 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
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
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'- AGAAGATTCCTGTCTAACCCAC -3'
(R):5'- GGCTGTGATGTCACCAGTAC -3'

Sequencing Primer
(F):5'- TTCCTGTCTAACCCACATAGAAAAC -3'
(R):5'- GTACAACAAACCTACTCTGTACTATG -3'
Posted On 2019-12-04