Incidental Mutation 'IGL02609:Tmem35a'
ID300399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem35a
Ensembl Gene ENSMUSG00000033578
Gene Nametransmembrane protein 35A
SynonymsTmem35, 9030603L14Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02609
Quality Score
Status
ChromosomeX
Chromosomal Location134295225-134305969 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134304697 bp
ZygosityHeterozygous
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]
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
2210407C18Rik A T 11: 58,612,616 C29S probably damaging Het
A930011G23Rik A G 5: 99,233,995 probably benign Het
Adcy10 T G 1: 165,538,475 Y520* probably null Het
Agrn A T 4: 156,175,223 probably benign Het
AI661453 A T 17: 47,468,372 probably benign Het
Arhgap6 A G X: 169,178,066 probably benign Het
Asxl2 T C 12: 3,500,018 S587P probably damaging Het
B3gntl1 A G 11: 121,644,601 probably benign Het
Bahcc1 T C 11: 120,289,398 F2527L possibly damaging Het
Baz2b T A 2: 59,917,369 M1317L possibly damaging Het
Bcas3 A T 11: 85,457,894 K204I probably damaging Het
C1qtnf1 T C 11: 118,448,004 F167L probably damaging Het
Cfap58 C T 19: 47,975,502 T523M possibly damaging Het
Ddb1 T A 19: 10,622,466 C680S possibly damaging Het
Eef1d T C 15: 75,896,313 Q200R probably null Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm28557 T A 13: 67,071,019 K214* probably null Het
Gm438 T A 4: 144,779,737 D128V probably damaging Het
Gm8229 A C 14: 44,366,625 E90D probably benign Het
Hhla1 T C 15: 65,930,614 probably benign Het
Hivep1 C T 13: 42,155,654 H457Y probably damaging Het
Htr2c T C X: 147,193,760 probably benign Het
Ifi44 A T 3: 151,732,497 S384R probably damaging Het
Impad1 T A 4: 4,767,763 R338* probably null Het
Kirrel2 T C 7: 30,448,340 T628A probably benign Het
Kmt2d T C 15: 98,851,793 probably benign Het
Larp4b T A 13: 9,170,680 I655N probably damaging Het
Lrrd1 G A 5: 3,858,803 V692I probably benign Het
Mum1 A T 10: 80,230,083 E57V probably damaging Het
Nes T C 3: 87,977,221 I929T probably benign Het
Ogfr T C 2: 180,592,515 probably benign Het
Rfx2 G T 17: 56,805,404 P43Q probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sh3tc1 T C 5: 35,707,172 K495R probably damaging Het
Slit1 A T 19: 41,602,304 C1310S probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stk35 T C 2: 129,801,801 V235A probably damaging Het
Syde2 T G 3: 145,998,520 V142G probably benign Het
Tgfb3 A G 12: 86,077,839 F32L probably benign Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Vmn1r26 A G 6: 58,008,875 S110P probably damaging Het
Vpreb2 T C 16: 17,980,694 probably benign Het
Xrn2 A T 2: 147,050,025 T721S probably benign Het
Other mutations in Tmem35a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Tmem35a APN X 134304608 missense probably damaging 0.96
Posted On2015-04-16