Incidental Mutation 'R5545:Tmem229b'
ID 436195
Institutional Source Beutler Lab
Gene Symbol Tmem229b
Ensembl Gene ENSMUSG00000046157
Gene Name transmembrane protein 229B
Synonyms 6330442E10Rik
MMRRC Submission 043103-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.461) question?
Stock # R5545 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 79008569-79054333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79011583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 116 (I116T)
Ref Sequence ENSEMBL: ENSMUSP00000134348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056660] [ENSMUST00000070174] [ENSMUST00000174072] [ENSMUST00000174697] [ENSMUST00000174721]
AlphaFold Q8BFQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000056660
AA Change: I116T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053835
Gene: ENSMUSG00000046157
AA Change: I116T

DomainStartEndE-ValueType
Pfam:DUF1113 11 147 3.7e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000070174
AA Change: I116T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070637
Gene: ENSMUSG00000046157
AA Change: I116T

DomainStartEndE-ValueType
Pfam:DUF1113 11 147 3.7e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174072
AA Change: I116T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134376
Gene: ENSMUSG00000046157
AA Change: I116T

DomainStartEndE-ValueType
Pfam:ABC_trans_CmpB 12 148 1.8e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174697
AA Change: I116T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134348
Gene: ENSMUSG00000046157
AA Change: I116T

DomainStartEndE-ValueType
Pfam:DUF1113 11 147 3.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174721
SMART Domains Protein: ENSMUSP00000134605
Gene: ENSMUSG00000046157

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 41 60 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik T C 3: 145,644,853 (GRCm39) probably null Het
Acot5 G A 12: 84,116,380 (GRCm39) R47Q possibly damaging Het
Akr1c19 A T 13: 4,292,594 (GRCm39) Y205F probably benign Het
Cdh6 T C 15: 13,041,235 (GRCm39) Y564C probably damaging Het
Cngb1 A G 8: 95,978,801 (GRCm39) S551P Het
Cyp20a1 T C 1: 60,415,241 (GRCm39) I289T possibly damaging Het
Herc6 A T 6: 57,634,992 (GRCm39) probably null Het
Ifnar2 G A 16: 91,181,913 (GRCm39) probably null Het
Kcnd2 A G 6: 21,217,018 (GRCm39) T241A probably damaging Het
Nfatc2ip T A 7: 125,989,642 (GRCm39) E247D possibly damaging Het
Or2k2 T G 4: 58,785,585 (GRCm39) I46L probably benign Het
Or2o1 G A 11: 49,051,453 (GRCm39) C204Y probably damaging Het
Pate10 A G 9: 35,652,940 (GRCm39) I61V probably benign Het
Plekhg2 T C 7: 28,061,886 (GRCm39) E638G probably damaging Het
Plin1 T C 7: 79,376,257 (GRCm39) T160A probably benign Het
Prox1 T A 1: 189,879,339 (GRCm39) N613I probably damaging Het
Ptpn13 A G 5: 103,709,830 (GRCm39) S1498G probably damaging Het
Ralbp1 C T 17: 66,157,099 (GRCm39) R598Q possibly damaging Het
Robo2 A C 16: 73,758,635 (GRCm39) V712G probably damaging Het
Rsl1d1 A G 16: 11,017,514 (GRCm39) F151L probably damaging Het
Scrn3 T A 2: 73,166,125 (GRCm39) I386N possibly damaging Het
Sorl1 T A 9: 41,902,921 (GRCm39) Y1591F probably benign Het
Tbr1 T G 2: 61,637,720 (GRCm39) V93G possibly damaging Het
Ttn T C 2: 76,594,720 (GRCm39) Q12115R possibly damaging Het
Ube3a C T 7: 58,921,772 (GRCm39) T48M probably damaging Het
Vnn3 A G 10: 23,742,992 (GRCm39) I401V probably benign Het
Wdr90 C T 17: 26,064,830 (GRCm39) R1744H probably damaging Het
Zc3h7a T C 16: 10,966,315 (GRCm39) D604G possibly damaging Het
Other mutations in Tmem229b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0659:Tmem229b UTSW 12 79,011,908 (GRCm39) missense probably benign 0.09
R1531:Tmem229b UTSW 12 79,011,685 (GRCm39) missense probably damaging 0.98
R6508:Tmem229b UTSW 12 79,011,680 (GRCm39) missense probably damaging 1.00
R8036:Tmem229b UTSW 12 79,011,862 (GRCm39) missense probably damaging 0.98
R9159:Tmem229b UTSW 12 79,011,448 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AACTGCATCAGCTTGGTCTCTC -3'
(R):5'- GTGGAGCGTATGTACCTTCG -3'

Sequencing Primer
(F):5'- GTCCTATGAGAGACTTCAGGTCC -3'
(R):5'- GAGCGTATGTACCTTCGTCTGC -3'
Posted On 2016-10-24