Incidental Mutation 'IGL02609:Tmem35a'
ID 300399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem35a
Ensembl Gene ENSMUSG00000033578
Gene Name transmembrane protein 35A
Synonyms NACHO, Tmem35, 9030603L14Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02609
Quality Score
Status
Chromosome X
Chromosomal Location 133195974-133206718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133205446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 121 (F121L)
Ref Sequence ENSEMBL: ENSMUSP00000044926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037687] [ENSMUST00000081064] [ENSMUST00000101251] [ENSMUST00000129782]
AlphaFold Q9D328
Predicted Effect probably damaging
Transcript: ENSMUST00000037687
AA Change: F121L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044926
Gene: ENSMUSG00000033578
AA Change: F121L

DomainStartEndE-ValueType
Pfam:DoxX_2 11 127 1.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081064
SMART Domains Protein: ENSMUSP00000079851
Gene: ENSMUSG00000031262

DomainStartEndE-ValueType
Pfam:CENP-I 8 516 3.8e-276 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101251
SMART Domains Protein: ENSMUSP00000098809
Gene: ENSMUSG00000031262

DomainStartEndE-ValueType
Pfam:CENP-I 1 517 1e-247 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129782
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Knockout causes a reduction in hippocampal long-term potentiation, which results in impairment of fear learning and long-term spatial reference memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,381,854 (GRCm39) probably benign Het
Aadacl4fm5 T A 4: 144,506,307 (GRCm39) D128V probably damaging Het
Adcy10 T G 1: 165,366,044 (GRCm39) Y520* probably null Het
Agrn A T 4: 156,259,680 (GRCm39) probably benign Het
AI661453 A T 17: 47,779,297 (GRCm39) probably benign Het
Arhgap6 A G X: 167,961,062 (GRCm39) probably benign Het
Asxl2 T C 12: 3,550,018 (GRCm39) S587P probably damaging Het
B3gntl1 A G 11: 121,535,427 (GRCm39) probably benign Het
Bahcc1 T C 11: 120,180,224 (GRCm39) F2527L possibly damaging Het
Baz2b T A 2: 59,747,713 (GRCm39) M1317L possibly damaging Het
Bcas3 A T 11: 85,348,720 (GRCm39) K204I probably damaging Het
Bpnt2 T A 4: 4,767,763 (GRCm39) R338* probably null Het
C1qtnf1 T C 11: 118,338,830 (GRCm39) F167L probably damaging Het
Cfap58 C T 19: 47,963,941 (GRCm39) T523M possibly damaging Het
Ddb1 T A 19: 10,599,830 (GRCm39) C680S possibly damaging Het
Eef1d T C 15: 75,768,162 (GRCm39) Q200R probably null Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm28557 T A 13: 67,219,083 (GRCm39) K214* probably null Het
Gm8229 A C 14: 44,604,082 (GRCm39) E90D probably benign Het
Hhla1 T C 15: 65,802,463 (GRCm39) probably benign Het
Hivep1 C T 13: 42,309,130 (GRCm39) H457Y probably damaging Het
Htr2c T C X: 145,976,756 (GRCm39) probably benign Het
Ifi44 A T 3: 151,438,134 (GRCm39) S384R probably damaging Het
Kirrel2 T C 7: 30,147,765 (GRCm39) T628A probably benign Het
Kmt2d T C 15: 98,749,674 (GRCm39) probably benign Het
Larp4b T A 13: 9,220,716 (GRCm39) I655N probably damaging Het
Lrrd1 G A 5: 3,908,803 (GRCm39) V692I probably benign Het
Lypd8l A T 11: 58,503,442 (GRCm39) C29S probably damaging Het
Nes T C 3: 87,884,528 (GRCm39) I929T probably benign Het
Ogfr T C 2: 180,234,308 (GRCm39) probably benign Het
Pwwp3a A T 10: 80,065,917 (GRCm39) E57V probably damaging Het
Rfx2 G T 17: 57,112,404 (GRCm39) P43Q probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sh3tc1 T C 5: 35,864,516 (GRCm39) K495R probably damaging Het
Slit1 A T 19: 41,590,743 (GRCm39) C1310S probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stk35 T C 2: 129,643,721 (GRCm39) V235A probably damaging Het
Syde2 T G 3: 145,704,275 (GRCm39) V142G probably benign Het
Tgfb3 A G 12: 86,124,613 (GRCm39) F32L probably benign Het
Trp53bp2 T A 1: 182,281,289 (GRCm39) D963E probably benign Het
Vmn1r26 A G 6: 57,985,860 (GRCm39) S110P probably damaging Het
Vpreb1b T C 16: 17,798,558 (GRCm39) probably benign Het
Xrn2 A T 2: 146,891,945 (GRCm39) T721S probably benign Het
Other mutations in Tmem35a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Tmem35a APN X 133,205,357 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16