Incidental Mutation 'R8348:1600014C10Rik'
ID 660433
Institutional Source Beutler Lab
Gene Symbol 1600014C10Rik
Ensembl Gene ENSMUSG00000054676
Gene Name RIKEN cDNA 1600014C10 gene
Synonyms
MMRRC Submission 067732-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8348 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 37882642-37896992 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37894384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 139 (Y139C)
Ref Sequence ENSEMBL: ENSMUSP00000130271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067854] [ENSMUST00000165308] [ENSMUST00000178207] [ENSMUST00000178876] [ENSMUST00000179503] [ENSMUST00000179525] [ENSMUST00000179992]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000067854
AA Change: Y139C

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070449
Gene: ENSMUSG00000054676
AA Change: Y139C

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165308
AA Change: Y139C

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130271
Gene: ENSMUSG00000054676
AA Change: Y139C

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178207
Predicted Effect probably benign
Transcript: ENSMUST00000178876
Predicted Effect probably benign
Transcript: ENSMUST00000179503
Predicted Effect probably benign
Transcript: ENSMUST00000179525
Predicted Effect probably benign
Transcript: ENSMUST00000179992
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,634,514 (GRCm39) D43G probably damaging Het
Actn3 C A 19: 4,915,361 (GRCm39) V464L possibly damaging Het
Adamts15 C T 9: 30,813,846 (GRCm39) R773Q probably benign Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
Arhgef28 G T 13: 98,190,375 (GRCm39) P195T possibly damaging Het
Axdnd1 A T 1: 156,245,854 (GRCm39) D107E probably benign Het
Cdh23 C T 10: 60,167,507 (GRCm39) V1828M probably benign Het
Cep95 A G 11: 106,704,593 (GRCm39) T440A possibly damaging Het
Ctdp1 G A 18: 80,493,325 (GRCm39) A390V probably benign Het
Desi2 T A 1: 178,083,906 (GRCm39) probably benign Het
Dnah2 A T 11: 69,320,273 (GRCm39) M3932K possibly damaging Het
Dnah8 A T 17: 30,955,121 (GRCm39) Q2050L probably damaging Het
Etnppl T A 3: 130,423,141 (GRCm39) M274K probably benign Het
Farp2 G T 1: 93,504,614 (GRCm39) probably null Het
Fbxo46 G A 7: 18,870,469 (GRCm39) G363R probably damaging Het
Fiz1 A G 7: 5,015,909 (GRCm39) V27A probably benign Het
Fndc3b T A 3: 27,494,144 (GRCm39) M994L probably benign Het
G3bp1 T G 11: 55,389,457 (GRCm39) D384E possibly damaging Het
Galnt2 C T 8: 125,061,025 (GRCm39) R306* probably null Het
Gle1 T C 2: 29,832,556 (GRCm39) Y304H possibly damaging Het
Gm3415 G A 5: 146,493,407 (GRCm39) R84H probably benign Het
Gm7694 A C 1: 170,129,209 (GRCm39) S107A possibly damaging Het
Gpc6 A G 14: 117,673,232 (GRCm39) D163G probably damaging Het
Gtpbp6 G A 5: 110,251,892 (GRCm39) H514Y possibly damaging Het
Hdgfl2 A G 17: 56,406,370 (GRCm39) E595G possibly damaging Het
Hoxc11 G A 15: 102,863,186 (GRCm39) G76S possibly damaging Het
Hoxc4 T C 15: 102,943,440 (GRCm39) C98R possibly damaging Het
Hydin A T 8: 111,329,878 (GRCm39) I4871F possibly damaging Het
Ifnar1 A G 16: 91,292,187 (GRCm39) D176G probably benign Het
Inafm1 A G 7: 16,007,055 (GRCm39) I54T probably damaging Het
Inpp5b G A 4: 124,678,967 (GRCm39) G458D probably damaging Het
Irs2 A T 8: 11,054,974 (GRCm39) S1153T probably damaging Het
Kcnj15 A G 16: 95,096,609 (GRCm39) Y77C probably damaging Het
Klhl35 C A 7: 99,121,062 (GRCm39) D10E probably damaging Het
Lef1 A T 3: 130,906,461 (GRCm39) M1L probably benign Het
Lima1 T C 15: 99,678,753 (GRCm39) T403A probably benign Het
Magi3 T A 3: 103,958,531 (GRCm39) N518I probably damaging Het
Mcoln3 T C 3: 145,836,974 (GRCm39) C269R probably damaging Het
Mis18a A T 16: 90,523,919 (GRCm39) L81* probably null Het
Mug2 A T 6: 122,049,192 (GRCm39) K903* probably null Het
Nhsl3 G A 4: 129,117,699 (GRCm39) R322C probably damaging Het
Pex6 T C 17: 47,034,039 (GRCm39) S656P probably benign Het
Pgr C A 9: 8,922,602 (GRCm39) Q591K probably benign Het
Phactr3 T C 2: 177,897,935 (GRCm39) S50P probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Sipa1l1 T A 12: 82,443,045 (GRCm39) N778K probably benign Het
Slc22a6 C G 19: 8,599,169 (GRCm39) R267G probably damaging Het
Slc5a7 A G 17: 54,583,655 (GRCm39) V545A possibly damaging Het
Snf8 A G 11: 95,925,877 (GRCm39) K13R probably benign Het
St3gal1 G A 15: 66,985,511 (GRCm39) R48C probably damaging Het
Tacc2 A C 7: 130,225,019 (GRCm39) K568T possibly damaging Het
Tnxb C A 17: 34,929,102 (GRCm39) T2715K possibly damaging Het
Vegfb T C 19: 6,962,856 (GRCm39) I140V probably benign Het
Vmn2r89 A C 14: 51,692,548 (GRCm39) D117A possibly damaging Het
Vps13c C T 9: 67,786,385 (GRCm39) T284I possibly damaging Het
Wnk1 T C 6: 119,906,960 (GRCm39) probably null Het
Wscd2 T A 5: 113,710,371 (GRCm39) H298Q possibly damaging Het
Zfp69 A T 4: 120,787,834 (GRCm39) C494S probably damaging Het
Zfp715 T C 7: 42,949,361 (GRCm39) T200A possibly damaging Het
Other mutations in 1600014C10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2174:1600014C10Rik UTSW 7 37,894,252 (GRCm39) missense possibly damaging 0.94
R9328:1600014C10Rik UTSW 7 37,894,272 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTCAGATCTTAATGGAGCTGCC -3'
(R):5'- ACGCCTGTACCCTTCCATAG -3'

Sequencing Primer
(F):5'- ATCATCGGGAACTTGGAC -3'
(R):5'- CCCAAGAGGCATGGCTGATG -3'
Posted On 2021-01-18