Incidental Mutation 'R7478:C130074G19Rik'
ID579590
Institutional Source Beutler Lab
Gene Symbol C130074G19Rik
Ensembl Gene ENSMUSG00000039349
Gene NameRIKEN cDNA C130074G19 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #R7478 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location184871926-184883218 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 184874427 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 103 (N103D)
Ref Sequence ENSEMBL: ENSMUSP00000041904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048308]
Predicted Effect probably damaging
Transcript: ENSMUST00000048308
AA Change: N103D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041904
Gene: ENSMUSG00000039349
AA Change: N103D

DomainStartEndE-ValueType
Pfam:DUF4710 62 134 1.6e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl2 A G 6: 29,903,267 R516G probably damaging Het
Ak9 T C 10: 41,389,091 F948S Het
Aldh3b3 A G 19: 3,964,549 M95V probably benign Het
Ankrd34a T C 3: 96,598,500 L340P possibly damaging Het
Arid1a T A 4: 133,685,171 R1186W unknown Het
Arpc4 T A 6: 113,384,131 M95K possibly damaging Het
Atrnl1 A G 19: 57,696,312 E790G possibly damaging Het
C1ra G A 6: 124,517,725 E316K probably benign Het
Camsap2 T C 1: 136,270,940 T782A Het
Catsperd A G 17: 56,664,055 I706M probably benign Het
Cbx2 T C 11: 119,029,115 V502A probably damaging Het
Cd72 T G 4: 43,454,515 I5L possibly damaging Het
Celsr3 A G 9: 108,843,578 Y2609C probably benign Het
Col19a1 C T 1: 24,317,707 G632R probably damaging Het
E430018J23Rik C T 7: 127,393,324 C38Y probably null Het
Efcc1 T C 6: 87,730,990 V33A probably damaging Het
Eif4enif1 T A 11: 3,227,709 L367* probably null Het
Eml2 T A 7: 19,206,141 L627* probably null Het
F13b A G 1: 139,507,695 T193A probably benign Het
Hif3a G A 7: 17,042,635 T462I possibly damaging Het
Ifna7 T A 4: 88,816,676 I150N probably damaging Het
Man2b2 G A 5: 36,810,313 H904Y probably damaging Het
Midn A G 10: 80,155,322 T389A possibly damaging Het
Myo19 A T 11: 84,885,800 H94L probably benign Het
Naglu T C 11: 101,071,899 Y177H probably damaging Het
Nek1 T A 8: 61,130,145 D1272E probably benign Het
Nxn A T 11: 76,261,552 V372E probably damaging Het
Obscn G A 11: 59,093,416 R1738C probably damaging Het
Pcm1 A G 8: 41,261,373 E266G probably benign Het
Pkd1l1 T C 11: 8,929,441 N920S Het
Pkd1l3 C A 8: 109,633,315 T944K probably damaging Het
Prl7d1 C A 13: 27,710,185 E133* probably null Het
Qser1 G A 2: 104,789,514 L228F probably damaging Het
Rasa3 A G 8: 13,614,605 I69T possibly damaging Het
Rb1 A T 14: 73,269,137 S391T probably damaging Het
Rnf220 T C 4: 117,296,136 Y301C possibly damaging Het
Sertm1 A G 3: 54,899,328 V92A possibly damaging Het
Slfn5 A G 11: 82,960,616 K580E probably damaging Het
Stard4 T C 18: 33,205,324 Y111C unknown Het
Tagap C A 17: 7,933,590 Q536K possibly damaging Het
Tank T C 2: 61,650,169 C351R probably damaging Het
Tarbp2 A T 15: 102,521,734 M144L probably benign Het
Tdrd9 T C 12: 111,985,042 Y89H probably damaging Het
Tecpr2 C A 12: 110,968,439 T1373K probably benign Het
Tle1 G A 4: 72,137,112 P434L probably damaging Het
Tmed5 A G 5: 108,124,629 V201A probably benign Het
Ust A G 10: 8,390,886 probably null Het
Vmn2r94 T C 17: 18,257,505 T215A probably benign Het
Zfp273 A T 13: 67,825,132 Q126H probably benign Het
Other mutations in C130074G19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:C130074G19Rik APN 1 184882746 missense probably damaging 0.99
IGL03193:C130074G19Rik APN 1 184882702 missense probably damaging 1.00
R0008:C130074G19Rik UTSW 1 184882922 missense probably benign 0.02
R0798:C130074G19Rik UTSW 1 184882676 splice site probably benign
R1512:C130074G19Rik UTSW 1 184882906 missense probably damaging 1.00
R1957:C130074G19Rik UTSW 1 184882898 missense probably benign
R2351:C130074G19Rik UTSW 1 184882863 missense probably benign 0.03
R7246:C130074G19Rik UTSW 1 184882969 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTCTGAGTCTGAAGTGCCG -3'
(R):5'- GTTTCCACACGCTGTGCAAG -3'

Sequencing Primer
(F):5'- AAGTGCCGGTGGATTCACAC -3'
(R):5'- CTGTGCAAGGAGGATGCCTG -3'
Posted On2019-10-07