Incidental Mutation 'R6413:3110070M22Rik'
ID 514828
Institutional Source Beutler Lab
Gene Symbol 3110070M22Rik
Ensembl Gene ENSMUSG00000074635
Gene Name RIKEN cDNA 3110070M22 gene
Synonyms
MMRRC Submission 044555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6413 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 119623793-119624920 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 119624647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026519] [ENSMUST00000099147] [ENSMUST00000099148] [ENSMUST00000176171] [ENSMUST00000223912] [ENSMUST00000225186] [ENSMUST00000224312] [ENSMUST00000225726]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026519
SMART Domains Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822

DomainStartEndE-ValueType
Pfam:DUF4524 9 154 5e-61 PFAM
Pfam:DUF4520 451 542 8.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099147
SMART Domains Protein: ENSMUSP00000096751
Gene: ENSMUSG00000074634

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 136 158 N/A INTRINSIC
transmembrane domain 202 224 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000099148
AA Change: C33F
SMART Domains Protein: ENSMUSP00000096752
Gene: ENSMUSG00000074635
AA Change: C33F

DomainStartEndE-ValueType
low complexity region 66 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176171
SMART Domains Protein: ENSMUSP00000135685
Gene: ENSMUSG00000074634

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 136 158 N/A INTRINSIC
transmembrane domain 202 224 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177361
SMART Domains Protein: ENSMUSP00000134785
Gene: ENSMUSG00000074634

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223912
Predicted Effect probably benign
Transcript: ENSMUST00000225186
Predicted Effect probably benign
Transcript: ENSMUST00000224312
Predicted Effect probably benign
Transcript: ENSMUST00000225726
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 A G 13: 59,647,834 (GRCm39) V662A possibly damaging Het
Ambra1 T G 2: 91,599,429 (GRCm39) V183G possibly damaging Het
Amdhd2 A G 17: 24,377,290 (GRCm39) S208P probably damaging Het
Ankdd1a C T 9: 65,417,654 (GRCm39) V133I probably benign Het
Ankrd35 A G 3: 96,592,129 (GRCm39) K805R probably damaging Het
Arhgap28 T C 17: 68,182,583 (GRCm39) Q270R probably benign Het
Cabp2 G A 19: 4,135,698 (GRCm39) probably null Het
Ccnt1 A G 15: 98,441,850 (GRCm39) S473P probably benign Het
Cenpt G A 8: 106,572,973 (GRCm39) P373S possibly damaging Het
Cyp3a44 T A 5: 145,731,254 (GRCm39) D182V probably damaging Het
Ddx54 A G 5: 120,765,127 (GRCm39) T799A probably benign Het
Dtna T A 18: 23,755,071 (GRCm39) D464E probably damaging Het
E030025P04Rik T C 11: 109,030,425 (GRCm39) Y154C unknown Het
Ephb2 C A 4: 136,498,433 (GRCm39) E215D probably benign Het
Eya4 T C 10: 22,992,724 (GRCm39) D445G probably damaging Het
Flg2 A T 3: 93,127,683 (GRCm39) L2198F unknown Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Klhl22 T C 16: 17,607,181 (GRCm39) F496L probably benign Het
Numa1 A T 7: 101,639,778 (GRCm39) probably null Het
Papola T C 12: 105,772,763 (GRCm39) probably benign Het
Phldb1 T C 9: 44,607,440 (GRCm39) E1255G probably damaging Het
Rgs8 A T 1: 153,568,619 (GRCm39) D168V probably damaging Het
Rlf A G 4: 121,004,522 (GRCm39) V1486A probably damaging Het
Rpa2 G T 4: 132,501,156 (GRCm39) A118S probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Serpina1f T A 12: 103,659,953 (GRCm39) I110F probably damaging Het
Serpini2 T C 3: 75,166,921 (GRCm39) Y112C probably damaging Het
Sh2b3 A G 5: 121,966,986 (GRCm39) Y43H probably damaging Het
Shank2 A G 7: 143,963,955 (GRCm39) E514G probably damaging Het
Slc44a5 T C 3: 153,963,387 (GRCm39) F388S probably benign Het
Spmip6 A T 4: 41,505,135 (GRCm39) V196D possibly damaging Het
Tmem176b T C 6: 48,815,266 (GRCm39) N9S possibly damaging Het
Trip11 T A 12: 101,851,790 (GRCm39) Q758L probably benign Het
Trrap T A 5: 144,720,856 (GRCm39) I231N possibly damaging Het
Ttn A T 2: 76,730,397 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,870,973 (GRCm39) N770S probably damaging Het
Vmn2r73 A T 7: 85,519,544 (GRCm39) Y471* probably null Het
Vmn2r8 T G 5: 108,949,589 (GRCm39) E419D probably benign Het
Wdfy4 C A 14: 32,689,604 (GRCm39) L2818F probably damaging Het
Zfhx4 A T 3: 5,308,205 (GRCm39) Y477F probably damaging Het
Other mutations in 3110070M22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4052:3110070M22Rik UTSW 13 119,624,738 (GRCm39) unclassified probably benign
R4630:3110070M22Rik UTSW 13 119,624,622 (GRCm39) unclassified probably benign
R6452:3110070M22Rik UTSW 13 119,624,651 (GRCm39) unclassified probably benign
R6902:3110070M22Rik UTSW 13 119,624,680 (GRCm39) unclassified probably benign
R7084:3110070M22Rik UTSW 13 119,624,721 (GRCm39) missense unknown
R7353:3110070M22Rik UTSW 13 119,624,714 (GRCm39) missense unknown
R9377:3110070M22Rik UTSW 13 119,624,822 (GRCm39) unclassified probably benign
Predicted Primers
Posted On 2018-05-04