Incidental Mutation 'R8036:Tmem229b'
ID 618259
Institutional Source Beutler Lab
Gene Symbol Tmem229b
Ensembl Gene ENSMUSG00000046157
Gene Name transmembrane protein 229B
Synonyms 6330442E10Rik
MMRRC Submission 067473-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.461) question?
Stock # R8036 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 79008569-79054333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 79011862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 23 (C23F)
Ref Sequence ENSEMBL: ENSMUSP00000053835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056660] [ENSMUST00000070174] [ENSMUST00000174072] [ENSMUST00000174697] [ENSMUST00000174721]
AlphaFold Q8BFQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000056660
AA Change: C23F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053835
Gene: ENSMUSG00000046157
AA Change: C23F

DomainStartEndE-ValueType
Pfam:DUF1113 11 147 3.7e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000070174
AA Change: C23F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070637
Gene: ENSMUSG00000046157
AA Change: C23F

DomainStartEndE-ValueType
Pfam:DUF1113 11 147 3.7e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174072
AA Change: C23F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134376
Gene: ENSMUSG00000046157
AA Change: C23F

DomainStartEndE-ValueType
Pfam:ABC_trans_CmpB 12 148 1.8e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174697
AA Change: C23F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134348
Gene: ENSMUSG00000046157
AA Change: C23F

DomainStartEndE-ValueType
Pfam:DUF1113 11 147 3.7e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174721
AA Change: C23F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134605
Gene: ENSMUSG00000046157
AA Change: C23F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,236,818 (GRCm39) V1473A possibly damaging Het
Akap9 T A 5: 4,120,397 (GRCm39) C3604* probably null Het
Alas1 A G 9: 106,112,721 (GRCm39) I545T probably benign Het
Anpep A C 7: 79,491,646 (GRCm39) D118E probably benign Het
Arhgef17 A T 7: 100,579,062 (GRCm39) S629T probably damaging Het
Arid2 C T 15: 96,266,625 (GRCm39) R558C probably damaging Het
Camk2n1 A G 4: 138,184,056 (GRCm39) D65G probably damaging Het
Ccdc177 T C 12: 80,804,897 (GRCm39) N459S unknown Het
Cenpe ACTCTCT ACTCT 3: 134,945,609 (GRCm39) probably null Het
Crb1 T C 1: 139,165,122 (GRCm39) I1062V probably benign Het
Decr2 A G 17: 26,301,962 (GRCm39) L256P probably damaging Het
Dhx37 T C 5: 125,501,739 (GRCm39) M507V probably benign Het
Disp1 A G 1: 182,870,803 (GRCm39) I539T probably damaging Het
Dqx1 T A 6: 83,036,788 (GRCm39) V264E probably damaging Het
Enpp4 A G 17: 44,413,136 (GRCm39) S133P possibly damaging Het
Fam149a T C 8: 45,802,048 (GRCm39) T476A probably benign Het
Fam20b A G 1: 156,533,407 (GRCm39) W70R probably damaging Het
Fbxl13 T A 5: 21,728,566 (GRCm39) N508Y probably damaging Het
Fjx1 A G 2: 102,280,720 (GRCm39) L405P probably damaging Het
Fn1 G A 1: 71,629,310 (GRCm39) Q2399* probably null Het
Foxa2 G C 2: 147,885,909 (GRCm39) T308S probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gm10521 A G 1: 171,723,752 (GRCm39) D21G unknown Het
Gstcd C T 3: 132,787,868 (GRCm39) V277M probably damaging Het
Herpud1 A G 8: 95,119,014 (GRCm39) E256G probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Kctd13 A G 7: 126,528,414 (GRCm39) D63G possibly damaging Het
Lamp3 C A 16: 19,519,809 (GRCm39) D125Y probably damaging Het
Luzp2 A G 7: 54,724,823 (GRCm39) D128G probably damaging Het
Lyve1 A G 7: 110,458,649 (GRCm39) C105R probably damaging Het
Mlkl A T 8: 112,060,086 (GRCm39) V100E probably damaging Het
Muc5b T C 7: 141,421,478 (GRCm39) S4323P possibly damaging Het
Myoz3 T G 18: 60,713,922 (GRCm39) probably null Het
Nlrp9c T A 7: 26,070,864 (GRCm39) N906Y possibly damaging Het
Odad1 A G 7: 45,592,276 (GRCm39) D352G probably benign Het
Or10x4 A G 1: 174,219,382 (GRCm39) H249R probably damaging Het
Or51f23 A T 7: 102,452,763 (GRCm39) H26L possibly damaging Het
Or8b49 T C 9: 38,506,186 (GRCm39) F223S probably benign Het
Or8w1 C T 2: 87,465,847 (GRCm39) M81I probably benign Het
Pcsk9 G A 4: 106,311,536 (GRCm39) H232Y possibly damaging Het
Plec A G 15: 76,063,380 (GRCm39) I2230T possibly damaging Het
Pou2f3 T A 9: 43,058,205 (GRCm39) T47S probably damaging Het
Rab8a A T 8: 72,928,439 (GRCm39) I106F probably damaging Het
Relch A T 1: 105,605,902 (GRCm39) I181F probably damaging Het
Ros1 A T 10: 52,041,439 (GRCm39) S295T probably benign Het
Sh3yl1 T A 12: 30,992,098 (GRCm39) N222K possibly damaging Het
Slc6a9 C T 4: 117,725,083 (GRCm39) A559V possibly damaging Het
Spata20 T G 11: 94,369,963 (GRCm39) I778L probably benign Het
Taar1 A T 10: 23,797,033 (GRCm39) T244S probably benign Het
Ttll4 A G 1: 74,718,389 (GRCm39) Y80C probably benign Het
Ube2m G A 7: 12,769,566 (GRCm39) T176I probably benign Het
Zfp790 G A 7: 29,528,346 (GRCm39) A344T possibly damaging Het
Zfp90 G A 8: 107,145,760 (GRCm39) V31M probably benign Het
Zswim4 C T 8: 84,949,918 (GRCm39) R659Q probably benign 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
R5545:Tmem229b UTSW 12 79,011,583 (GRCm39) missense probably damaging 1.00
R6508:Tmem229b UTSW 12 79,011,680 (GRCm39) missense probably damaging 1.00
R9159:Tmem229b UTSW 12 79,011,448 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AAAGCCGGTGGTGAATTCC -3'
(R):5'- ATTTGAAATCCCCTCCAGCCTG -3'

Sequencing Primer
(F):5'- TGGTGAATTCCCACAGGTAAGTCC -3'
(R):5'- CCTGGTCACCACAGAGAGATG -3'
Posted On 2020-01-23