Incidental Mutation 'R6090:Tmem143'
ID 486143
Institutional Source Beutler Lab
Gene Symbol Tmem143
Ensembl Gene ENSMUSG00000002781
Gene Name transmembrane protein 143
Synonyms 2310076O21Rik
MMRRC Submission 044247-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6090 (G1)
Quality Score 171.009
Status Not validated
Chromosome 7
Chromosomal Location 45546403-45566837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45558950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 297 (I297M)
Ref Sequence ENSEMBL: ENSMUSP00000070405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069772] [ENSMUST00000209350] [ENSMUST00000210503]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069772
AA Change: I297M

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000070405
Gene: ENSMUSG00000002781
AA Change: I297M

DomainStartEndE-ValueType
Pfam:DUF3754 182 349 3.6e-12 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000209292
AA Change: T253A
Predicted Effect probably benign
Transcript: ENSMUST00000209350
AA Change: I292M

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209580
Predicted Effect probably benign
Transcript: ENSMUST00000210503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210692
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,624,972 (GRCm39) A450V probably benign Het
Abca8a T C 11: 109,954,048 (GRCm39) probably null Het
Adgrl3 A T 5: 81,660,173 (GRCm39) N246I probably damaging Het
Bmal2 T A 6: 146,731,194 (GRCm39) S500T possibly damaging Het
Cdipt A T 7: 126,576,131 (GRCm39) M29L possibly damaging Het
Chml G T 1: 175,514,624 (GRCm39) Y432* probably null Het
Clasp2 G T 9: 113,681,803 (GRCm39) V320L probably benign Het
Col12a1 G A 9: 79,599,675 (GRCm39) T826M probably damaging Het
Cpsf3 A G 12: 21,345,194 (GRCm39) I169V probably damaging Het
Dhx36 G A 3: 62,404,241 (GRCm39) T234M probably damaging Het
Dhx57 A G 17: 80,571,375 (GRCm39) probably null Het
Dnah1 A T 14: 30,991,382 (GRCm39) I3132N possibly damaging Het
Fbxw20 G T 9: 109,052,431 (GRCm39) Q231K probably benign Het
Gfod1 G T 13: 43,354,437 (GRCm39) Y179* probably null Het
Glg1 T A 8: 111,907,667 (GRCm39) I510F probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gse1 C A 8: 121,297,908 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Klrd1 T C 6: 129,572,499 (GRCm39) L97P probably damaging Het
Lgmn A T 12: 102,366,413 (GRCm39) M240K probably damaging Het
Lrp1b A G 2: 41,075,880 (GRCm39) probably null Het
Notch2 A T 3: 98,042,693 (GRCm39) R1353* probably null Het
Or2d2b A G 7: 106,705,456 (GRCm39) V204A possibly damaging Het
Or5t18 A C 2: 86,636,701 (GRCm39) V214G possibly damaging Het
Pcdhb14 G A 18: 37,581,659 (GRCm39) S255N probably benign Het
Pcgf2 C T 11: 97,581,817 (GRCm39) M25I possibly damaging Het
Poll G T 19: 45,544,436 (GRCm39) D328E probably benign Het
Pomgnt2 A T 9: 121,811,863 (GRCm39) L306Q probably damaging Het
Proser1 A T 3: 53,386,088 (GRCm39) M657L probably benign Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Rdh11 G T 12: 79,235,838 (GRCm39) P37T probably benign Het
Rsph10b A T 5: 143,913,946 (GRCm39) I286L probably benign Het
Septin4 G A 11: 87,480,343 (GRCm39) R238K possibly damaging Het
Sptan1 C T 2: 29,883,899 (GRCm39) R580C probably damaging Het
Stard9 T A 2: 120,524,135 (GRCm39) W777R probably damaging Het
Timd2 T C 11: 46,578,063 (GRCm39) T23A probably benign Het
Tmc4 A G 7: 3,674,052 (GRCm39) Y376H probably damaging Het
Togaram1 A G 12: 65,014,575 (GRCm39) T609A probably benign Het
Tyw3 T C 3: 154,302,704 (GRCm39) H10R probably benign Het
Unc13b C A 4: 43,239,306 (GRCm39) H3456Q probably damaging Het
Zfp131 A T 13: 120,237,532 (GRCm39) H275Q probably damaging Het
Other mutations in Tmem143
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Tmem143 APN 7 45,565,558 (GRCm39) missense probably damaging 1.00
R0137:Tmem143 UTSW 7 45,547,086 (GRCm39) missense probably benign 0.04
R0587:Tmem143 UTSW 7 45,556,478 (GRCm39) missense probably damaging 1.00
R1450:Tmem143 UTSW 7 45,556,532 (GRCm39) missense probably damaging 1.00
R1730:Tmem143 UTSW 7 45,556,426 (GRCm39) missense possibly damaging 0.87
R1783:Tmem143 UTSW 7 45,556,426 (GRCm39) missense possibly damaging 0.87
R1807:Tmem143 UTSW 7 45,547,037 (GRCm39) missense probably damaging 0.99
R1874:Tmem143 UTSW 7 45,565,988 (GRCm39) missense possibly damaging 0.68
R4460:Tmem143 UTSW 7 45,556,376 (GRCm39) missense probably damaging 0.99
R7130:Tmem143 UTSW 7 45,558,901 (GRCm39) missense possibly damaging 0.81
R7267:Tmem143 UTSW 7 45,557,598 (GRCm39) missense probably benign 0.05
R8292:Tmem143 UTSW 7 45,558,964 (GRCm39) missense probably damaging 0.96
R8303:Tmem143 UTSW 7 45,565,994 (GRCm39) missense probably benign 0.00
R9135:Tmem143 UTSW 7 45,546,802 (GRCm39) intron probably benign
R9508:Tmem143 UTSW 7 45,565,630 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGATACTTCAAGCGTGTGGTG -3'
(R):5'- TACGAGGTCAGTCAAGCTGC -3'

Sequencing Primer
(F):5'- TGGCTGCCCGGACGAAAG -3'
(R):5'- CACTACGTTCTGAAAGATGCCAGTG -3'
Posted On 2017-08-16