Incidental Mutation 'R4097:Tmem269'
ID 317160
Institutional Source Beutler Lab
Gene Symbol Tmem269
Ensembl Gene ENSMUSG00000028642
Gene Name transmembrane protein 269
Synonyms 4930538K18Rik
MMRRC Submission 040984-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R4097 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 119062252-119075414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119062977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 220 (F220Y)
Ref Sequence ENSEMBL: ENSMUSP00000148286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030394] [ENSMUST00000030395] [ENSMUST00000097908] [ENSMUST00000106345] [ENSMUST00000210595] [ENSMUST00000212054]
AlphaFold Q9D4Y8
Predicted Effect possibly damaging
Transcript: ENSMUST00000030394
AA Change: F168Y

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030394
Gene: ENSMUSG00000028642
AA Change: F168Y

DomainStartEndE-ValueType
transmembrane domain 44 62 N/A INTRINSIC
transmembrane domain 69 88 N/A INTRINSIC
transmembrane domain 113 135 N/A INTRINSIC
transmembrane domain 169 191 N/A INTRINSIC
transmembrane domain 211 233 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000030395
Predicted Effect probably benign
Transcript: ENSMUST00000097908
Predicted Effect probably benign
Transcript: ENSMUST00000106345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132778
Predicted Effect probably benign
Transcript: ENSMUST00000210595
Predicted Effect probably damaging
Transcript: ENSMUST00000212054
AA Change: F220Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.1978 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.1%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,348,228 (GRCm39) F292L probably damaging Het
Ankrd36 A G 11: 5,578,703 (GRCm39) D664G possibly damaging Het
Bbs1 T A 19: 4,947,345 (GRCm39) Y358F probably damaging Het
Becn1 C T 11: 101,185,092 (GRCm39) probably benign Het
Cenpp A T 13: 49,647,265 (GRCm39) N47I possibly damaging Het
Clec4n A T 6: 123,207,700 (GRCm39) H55L possibly damaging Het
Cntnap4 A G 8: 113,478,939 (GRCm39) I222V probably benign Het
Cttnbp2 T C 6: 18,420,871 (GRCm39) E370G probably benign Het
Cyp4a10 T A 4: 115,386,480 (GRCm39) V413E probably damaging Het
Dctn2 C T 10: 127,113,362 (GRCm39) L249F probably damaging Het
Dnah9 T C 11: 65,881,285 (GRCm39) S146G probably damaging Het
Dzip3 A T 16: 48,778,852 (GRCm39) L315* probably null Het
Evpl T C 11: 116,114,003 (GRCm39) E1229G possibly damaging Het
Ice2 T C 9: 69,328,953 (GRCm39) V775A possibly damaging Het
Jmjd1c A G 10: 67,054,787 (GRCm39) E69G probably benign Het
Lrrc66 T A 5: 73,765,047 (GRCm39) R665S possibly damaging Het
Mpdz T A 4: 81,253,937 (GRCm39) H1065L probably damaging Het
Nrf1 C T 6: 30,151,671 (GRCm39) Q503* probably null Het
Nt5dc3 G A 10: 86,669,820 (GRCm39) A472T probably benign Het
Oprk1 T A 1: 5,673,034 (GRCm39) probably benign Het
Or7g17 T C 9: 18,767,933 (GRCm39) I4T probably benign Het
Or9g3 T C 2: 85,590,040 (GRCm39) I227V possibly damaging Het
Pramel6 T G 2: 87,339,697 (GRCm39) F154V probably benign Het
Ralb T C 1: 119,411,228 (GRCm39) D37G probably benign Het
Ranbp9 A T 13: 43,574,733 (GRCm39) Y412N probably damaging Het
Scg2 T A 1: 79,413,538 (GRCm39) D395V probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpine3 T A 14: 62,908,395 (GRCm39) L141Q probably damaging Het
Sgpl1 C T 10: 60,939,017 (GRCm39) G394D probably damaging Het
Sh3pxd2a T C 19: 47,412,951 (GRCm39) Y44C probably damaging Het
Slc6a20b A G 9: 123,441,822 (GRCm39) probably benign Het
Snapc5 T C 9: 64,087,809 (GRCm39) I40T probably damaging Het
Spopl T C 2: 23,401,413 (GRCm39) H365R probably benign Het
Stil T A 4: 114,880,797 (GRCm39) I447N probably benign Het
Taf3 C A 2: 9,957,178 (GRCm39) V330F possibly damaging Het
Tgoln1 T C 6: 72,592,784 (GRCm39) E232G probably damaging Het
Thrap3 A G 4: 126,065,595 (GRCm39) L729P probably damaging Het
Tnrc18 ATCTTCC A 5: 142,759,561 (GRCm39) probably benign Het
Ubxn6 T C 17: 56,376,712 (GRCm39) T227A probably benign Het
Wdr17 C A 8: 55,088,504 (GRCm39) R1182I probably damaging Het
Wdr26 T C 1: 181,010,352 (GRCm39) I550V probably benign Het
Wdr43 A G 17: 71,964,532 (GRCm39) N637S probably benign Het
Zfp516 A G 18: 83,005,381 (GRCm39) T762A possibly damaging Het
Other mutations in Tmem269
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Tmem269 APN 4 119,066,511 (GRCm39) missense probably benign 0.03
IGL02002:Tmem269 APN 4 119,071,338 (GRCm39) missense probably benign
R1224:Tmem269 UTSW 4 119,074,323 (GRCm39) missense probably benign 0.00
R1802:Tmem269 UTSW 4 119,068,070 (GRCm39) critical splice donor site probably null
R5721:Tmem269 UTSW 4 119,067,146 (GRCm39) missense probably benign 0.00
R7053:Tmem269 UTSW 4 119,066,464 (GRCm39) missense probably damaging 0.98
R8844:Tmem269 UTSW 4 119,062,876 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGCACAGGCATCTGGAAG -3'
(R):5'- AGATTGCATTAGCTTCCGGTTAG -3'

Sequencing Primer
(F):5'- ACAGGCATCTGGAAGCTTTC -3'
(R):5'- GGGGCTTCCATATTCTTAGTAAACTG -3'
Posted On 2015-05-15