Incidental Mutation 'R8350:Fam136a'
ID 660216
Institutional Source Beutler Lab
Gene Symbol Fam136a
Ensembl Gene ENSMUSG00000057497
Gene Name family with sequence similarity 136, member A
Synonyms 2010309E21Rik
MMRRC Submission 067868-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R8350 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 86342628-86347040 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86345795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 104 (K104R)
Ref Sequence ENSEMBL: ENSMUSP00000071426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071492] [ENSMUST00000089558] [ENSMUST00000204893]
AlphaFold Q9CR98
Predicted Effect probably benign
Transcript: ENSMUST00000071492
AA Change: K104R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000071426
Gene: ENSMUSG00000057497
AA Change: K104R

DomainStartEndE-ValueType
Pfam:DUF842 5 132 3.7e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089558
SMART Domains Protein: ENSMUSP00000086987
Gene: ENSMUSG00000057278

DomainStartEndE-ValueType
Sm 7 72 3.7e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204893
SMART Domains Protein: ENSMUSP00000145530
Gene: ENSMUSG00000057497

DomainStartEndE-ValueType
Pfam:DUF842 5 84 4.4e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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 mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 G T 5: 8,978,578 (GRCm39) probably null Het
Adam29 A G 8: 56,325,224 (GRCm39) V410A possibly damaging Het
Adamts3 T C 5: 89,850,815 (GRCm39) T575A probably damaging Het
Ankmy1 T C 1: 92,804,353 (GRCm39) K877E possibly damaging Het
Arpin A T 7: 79,581,615 (GRCm39) I35N possibly damaging Het
BC030500 T C 8: 59,365,388 (GRCm39) I13T unknown Het
Bcas1 T C 2: 170,248,220 (GRCm39) N234D possibly damaging Het
Clca3a2 C T 3: 144,783,668 (GRCm39) G649E probably benign Het
Cnot2 A T 10: 116,322,181 (GRCm39) L516Q probably damaging Het
Ctdp1 C A 18: 80,512,494 (GRCm39) V90L probably benign Het
Cyb5b A G 8: 107,896,552 (GRCm39) Y91C possibly damaging Het
Cystm1 T C 18: 36,526,303 (GRCm39) probably benign Het
Dnhd1 C A 7: 105,327,231 (GRCm39) Q727K probably damaging Het
Dpf3 G A 12: 83,397,625 (GRCm39) R80C probably damaging Het
Ehmt2 C T 17: 35,127,667 (GRCm39) T882M probably damaging Het
Fcgbp T C 7: 27,793,614 (GRCm39) V1172A probably benign Het
Foxc1 C T 13: 31,991,548 (GRCm39) Q120* probably null Het
Grin1 G A 2: 25,188,323 (GRCm39) R448C probably damaging Het
Igsf10 G A 3: 59,238,949 (GRCm39) P411S probably damaging Het
Irgq T A 7: 24,233,165 (GRCm39) D335E probably benign Het
Kndc1 A G 7: 139,503,960 (GRCm39) Y1088C probably damaging Het
Llgl1 A G 11: 60,602,947 (GRCm39) E874G probably damaging Het
Lrp8 A G 4: 107,704,661 (GRCm39) N168D probably benign Het
Lyst T A 13: 13,824,973 (GRCm39) C1529* probably null Het
Mau2 A T 8: 70,495,242 (GRCm39) Y32N probably damaging Het
Mios T A 6: 8,227,998 (GRCm39) N638K probably benign Het
Mki67 A T 7: 135,300,200 (GRCm39) D1611E possibly damaging Het
Mroh2a G A 1: 88,171,805 (GRCm39) probably null Het
Nek5 A G 8: 22,603,688 (GRCm39) V138A probably damaging Het
Opcml A T 9: 28,813,463 (GRCm39) E251D probably benign Het
Or13c7e-ps1 T A 4: 43,782,175 (GRCm39) I52F probably benign Het
Or1j14 T A 2: 36,418,176 (GRCm39) Y251N probably damaging Het
Or1o1 A T 17: 37,717,260 (GRCm39) M274L probably benign Het
Pde1b A T 15: 103,411,901 (GRCm39) M1L probably benign Het
Pias1 G A 9: 62,859,266 (GRCm39) H72Y probably damaging Het
Postn G A 3: 54,277,679 (GRCm39) V225I probably damaging Het
Prickle2 A G 6: 92,353,483 (GRCm39) V661A probably benign Het
Ptpn1 T A 2: 167,816,161 (GRCm39) F225Y probably damaging Het
Ptprd C T 4: 75,868,898 (GRCm39) V1425M probably damaging Het
Rbfox1 C A 16: 7,094,954 (GRCm39) S111R probably benign Het
Rbm24 T C 13: 46,572,676 (GRCm39) probably null Het
Rlf T G 4: 121,027,954 (GRCm39) K224T probably damaging Het
Scgb2b3 G A 7: 31,061,485 (GRCm39) L5F probably damaging Het
Sdr42e2 T C 7: 120,419,873 (GRCm39) L206P probably damaging Het
Serpinb9g A G 13: 33,676,854 (GRCm39) E212G probably damaging Het
Sh3pxd2a T C 19: 47,257,146 (GRCm39) Y524C probably damaging Het
Sh3pxd2a C A 19: 47,258,277 (GRCm39) E475D probably null Het
Skil A G 3: 31,151,603 (GRCm39) T42A probably benign Het
Sorcs2 A G 5: 36,311,207 (GRCm39) V203A probably damaging Het
Sugp2 C T 8: 70,695,641 (GRCm39) R205* probably null Het
Tle1 C A 4: 72,057,203 (GRCm39) probably benign Het
Tmem63c T A 12: 87,119,660 (GRCm39) L318Q probably damaging Het
Txnrd1 A G 10: 82,717,759 (GRCm39) I248V probably benign Het
Vmn2r79 T A 7: 86,686,741 (GRCm39) C707* probably null Het
Xdh C T 17: 74,241,837 (GRCm39) G154D probably damaging Het
Xirp2 T A 2: 67,355,713 (GRCm39) D3491E probably benign Het
Yjefn3 A G 8: 70,341,869 (GRCm39) L77P probably damaging Het
Zer1 C T 2: 29,991,862 (GRCm39) E653K probably damaging Het
Zfyve27 T C 19: 42,167,911 (GRCm39) V151A probably benign Het
Zim1 T A 7: 6,685,064 (GRCm39) S129C probably damaging Het
Other mutations in Fam136a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0408:Fam136a UTSW 6 86,343,707 (GRCm39) missense possibly damaging 0.94
R5279:Fam136a UTSW 6 86,343,686 (GRCm39) missense probably damaging 1.00
R7568:Fam136a UTSW 6 86,342,784 (GRCm39) missense probably benign 0.03
R7573:Fam136a UTSW 6 86,343,667 (GRCm39) missense probably benign 0.02
R9362:Fam136a UTSW 6 86,345,855 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- TCTGTATCGAGCCTGTAGCC -3'
(R):5'- TGCCTGGAACTTGCTGTGTC -3'

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