Incidental Mutation 'R5096:Tmem221'
ID 388046
Institutional Source Beutler Lab
Gene Symbol Tmem221
Ensembl Gene ENSMUSG00000043664
Gene Name transmembrane protein 221
Synonyms
MMRRC Submission 042685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5096 (G1)
Quality Score 165
Status Validated
Chromosome 8
Chromosomal Location 72006882-72011515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72011353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 34 (L34P)
Ref Sequence ENSEMBL: ENSMUSP00000058317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048243] [ENSMUST00000052072] [ENSMUST00000163659]
AlphaFold Q8K071
Predicted Effect probably benign
Transcript: ENSMUST00000048243
SMART Domains Protein: ENSMUSP00000039294
Gene: ENSMUSG00000034829

DomainStartEndE-ValueType
Pfam:Thioredoxin_8 32 132 2.8e-24 PFAM
low complexity region 187 202 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000052072
AA Change: L34P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058317
Gene: ENSMUSG00000043664
AA Change: L34P

DomainStartEndE-ValueType
Pfam:Jiraiya 10 186 1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163659
SMART Domains Protein: ENSMUSP00000127094
Gene: ENSMUSG00000034829

DomainStartEndE-ValueType
Pfam:Thioredoxin_8 32 132 1.5e-22 PFAM
low complexity region 187 202 N/A INTRINSIC
Meta Mutation Damage Score 0.3072 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.6%
Validation Efficiency 95% (61/64)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,916,679 (GRCm39) probably benign Het
Adar T A 3: 89,654,598 (GRCm39) *728C probably null Het
Ap3b1 A G 13: 94,616,357 (GRCm39) R753G unknown Het
Atp9b C T 18: 80,805,399 (GRCm39) V720I probably benign Het
AY358078 A C 14: 52,063,575 (GRCm39) D407A probably benign Het
Ccdc185 A G 1: 182,576,354 (GRCm39) S112P possibly damaging Het
Cir1 A G 2: 73,134,105 (GRCm39) S155P probably damaging Het
Colq C T 14: 31,274,911 (GRCm39) E76K possibly damaging Het
Cthrc1 T A 15: 38,947,815 (GRCm39) I104N probably damaging Het
D930020B18Rik A T 10: 121,503,709 (GRCm39) I92L probably benign Het
Eif3i C T 4: 129,494,237 (GRCm39) E21K probably damaging Het
Fam114a1 T A 5: 65,137,234 (GRCm39) M59K probably benign Het
Fam163b A G 2: 27,002,761 (GRCm39) S79P probably benign Het
Fam181b T G 7: 92,730,452 (GRCm39) probably benign Het
Fsip2 G A 2: 82,821,460 (GRCm39) S5731N probably benign Het
Fzd9 C T 5: 135,278,713 (GRCm39) V391I probably damaging Het
Gbp5 A G 3: 142,207,122 (GRCm39) D97G probably damaging Het
Gm10715 T C 9: 3,038,157 (GRCm39) probably benign Het
Grhl1 A T 12: 24,653,049 (GRCm39) K418M probably damaging Het
H2-Q4 T A 17: 35,598,689 (GRCm39) probably benign Het
Hmcn1 C A 1: 150,486,420 (GRCm39) A4329S probably damaging Het
Hspa8 T C 9: 40,714,197 (GRCm39) probably benign Het
Ica1l T C 1: 60,067,313 (GRCm39) T26A possibly damaging Het
Ifi209 T A 1: 173,472,300 (GRCm39) N380K probably benign Het
Inpp5e G T 2: 26,289,537 (GRCm39) N482K probably damaging Het
Iqsec3 C T 6: 121,363,657 (GRCm39) V866M probably damaging Het
Kbtbd2 A G 6: 56,756,260 (GRCm39) V492A probably benign Het
Kcnb2 A G 1: 15,781,068 (GRCm39) R647G probably benign Het
Lcmt1 T G 7: 123,000,691 (GRCm39) V75G probably damaging Het
Lrp4 A G 2: 91,316,137 (GRCm39) I752V possibly damaging Het
Mmp17 C A 5: 129,682,627 (GRCm39) P422Q probably damaging Het
Myo3a A T 2: 22,464,254 (GRCm39) H165L probably benign Het
Nos3 C T 5: 24,576,955 (GRCm39) T494I probably damaging Het
Or1ak2 T C 2: 36,827,815 (GRCm39) V228A possibly damaging Het
Or4p22 C T 2: 88,317,646 (GRCm39) T190I possibly damaging Het
Or51q1c T C 7: 103,652,667 (GRCm39) Y68H probably benign Het
Or8u8 A G 2: 86,012,276 (GRCm39) Y60H probably damaging Het
Pkn2 A C 3: 142,545,092 (GRCm39) V27G probably damaging Het
Scube2 T C 7: 109,398,451 (GRCm39) probably benign Het
Skint7 A G 4: 111,839,152 (GRCm39) I149V probably damaging Het
Smc4 T A 3: 68,928,612 (GRCm39) I412K probably damaging Het
Snx19 T A 9: 30,340,082 (GRCm39) C407S probably benign Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Sytl2 T A 7: 90,025,290 (GRCm39) I426N possibly damaging Het
Tbce A T 13: 14,203,990 (GRCm39) probably benign Het
Tdpoz2 T C 3: 93,559,819 (GRCm39) E51G possibly damaging Het
Tmem92 T C 11: 94,669,862 (GRCm39) T90A probably benign Het
Tpr A G 1: 150,321,953 (GRCm39) D42G probably damaging Het
Wt1 A G 2: 104,973,470 (GRCm39) T237A probably damaging Het
Other mutations in Tmem221
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1545:Tmem221 UTSW 8 72,011,182 (GRCm39) missense probably damaging 0.99
R2012:Tmem221 UTSW 8 72,008,458 (GRCm39) missense probably benign 0.41
R2116:Tmem221 UTSW 8 72,010,472 (GRCm39) missense probably damaging 1.00
R3875:Tmem221 UTSW 8 72,008,399 (GRCm39) splice site probably null
R4867:Tmem221 UTSW 8 72,007,784 (GRCm39) missense probably benign 0.31
R5106:Tmem221 UTSW 8 72,008,522 (GRCm39) missense probably benign
R5845:Tmem221 UTSW 8 72,007,788 (GRCm39) critical splice acceptor site probably null
R6334:Tmem221 UTSW 8 72,011,428 (GRCm39) missense probably damaging 0.98
R6466:Tmem221 UTSW 8 72,010,493 (GRCm39) missense probably damaging 1.00
R7729:Tmem221 UTSW 8 72,011,446 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TTTCCCTCTCTGTAGGTAGAGG -3'
(R):5'- ATCTGGTACCAGCACTCGAG -3'

Sequencing Primer
(F):5'- AGAGGCGGTGGTATCCTAC -3'
(R):5'- CACTCGAGCCCCGGTGG -3'
Posted On 2016-06-06