Incidental Mutation 'R5429:Tmem41a'
ID 427093
Institutional Source Beutler Lab
Gene Symbol Tmem41a
Ensembl Gene ENSMUSG00000022856
Gene Name transmembrane protein 41a
Synonyms 5730578N08Rik, 2900010K02Rik
MMRRC Submission 042995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5429 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 21753077-21766302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21753606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 255 (I255T)
Ref Sequence ENSEMBL: ENSMUSP00000023562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023562] [ENSMUST00000042065] [ENSMUST00000231988] [ENSMUST00000232240] [ENSMUST00000232635]
AlphaFold Q9D8U2
Predicted Effect probably benign
Transcript: ENSMUST00000023562
AA Change: I255T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023562
Gene: ENSMUSG00000022856
AA Change: I255T

DomainStartEndE-ValueType
transmembrane domain 4 21 N/A INTRINSIC
Pfam:SNARE_assoc 85 206 4.7e-22 PFAM
transmembrane domain 217 239 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000042065
SMART Domains Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
low complexity region 119 137 N/A INTRINSIC
Pfam:Pkinase 167 406 3.1e-60 PFAM
Pfam:Pkinase_Tyr 167 406 2.4e-65 PFAM
coiled coil region 456 502 N/A INTRINSIC
low complexity region 578 599 N/A INTRINSIC
low complexity region 632 649 N/A INTRINSIC
low complexity region 805 821 N/A INTRINSIC
low complexity region 833 843 N/A INTRINSIC
low complexity region 932 945 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231988
Predicted Effect probably benign
Transcript: ENSMUST00000232240
Predicted Effect probably benign
Transcript: ENSMUST00000232635
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T G 7: 75,252,652 (GRCm39) S261A possibly damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Auts2 G A 5: 131,501,173 (GRCm39) T289M probably damaging Het
Btaf1 G A 19: 36,972,257 (GRCm39) V1331I possibly damaging Het
Ciz1 T A 2: 32,266,055 (GRCm39) I609K possibly damaging Het
Clca3b C T 3: 144,552,220 (GRCm39) V154I probably damaging Het
Csde1 A G 3: 102,960,157 (GRCm39) T564A possibly damaging Het
Csrnp2 A G 15: 100,379,935 (GRCm39) V452A probably benign Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Dock6 T C 9: 21,744,177 (GRCm39) D677G probably damaging Het
Filip1l A T 16: 57,390,618 (GRCm39) E402V probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ghr G A 15: 3,418,157 (GRCm39) Q37* probably null Het
Gm10770 C T 2: 150,021,343 (GRCm39) R58H probably benign Het
Gm12789 T C 4: 101,847,158 (GRCm39) Y148H possibly damaging Het
Herc4 T A 10: 63,110,792 (GRCm39) N234K probably benign Het
Itih3 A G 14: 30,645,478 (GRCm39) V10A probably benign Het
Kat14 T A 2: 144,235,243 (GRCm39) D234E probably benign Het
Kif13a A G 13: 46,926,245 (GRCm39) probably null Het
Kif2b A G 11: 91,468,055 (GRCm39) V76A probably benign Het
Mboat1 A G 13: 30,403,650 (GRCm39) T150A probably benign Het
Mfsd1 T A 3: 67,507,293 (GRCm39) L398H probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nfx1 T C 4: 41,004,343 (GRCm39) C705R probably damaging Het
Or13a27 A G 7: 139,925,186 (GRCm39) F239L possibly damaging Het
Or2ak5 T A 11: 58,611,350 (GRCm39) N175Y probably damaging Het
Pcdh10 T C 3: 45,338,635 (GRCm39) S931P probably benign Het
Pdpk1 T C 17: 24,310,534 (GRCm39) E205G probably benign Het
Ppp2r2a A T 14: 67,261,205 (GRCm39) F172I probably damaging Het
Ppp2r5e T A 12: 75,500,537 (GRCm39) D452V probably damaging Het
Rims2 A T 15: 39,208,751 (GRCm39) T185S probably damaging Het
Rpusd4 T C 9: 35,183,898 (GRCm39) V209A probably benign Het
Safb T C 17: 56,895,822 (GRCm39) V20A probably benign Het
Scaf8 C A 17: 3,247,385 (GRCm39) P903T probably benign Het
Slc30a7 A G 3: 115,800,574 (GRCm39) S31P possibly damaging Het
Slc9b1 T C 3: 135,079,024 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tbc1d32 T C 10: 55,904,089 (GRCm39) D1226G probably damaging Het
Tlnrd1 G T 7: 83,531,522 (GRCm39) T303N probably damaging Het
Tmc1 G T 19: 20,766,986 (GRCm39) N738K possibly damaging Het
Trim7 G A 11: 48,740,782 (GRCm39) C293Y probably damaging Het
Trpc6 C T 9: 8,634,075 (GRCm39) Q385* probably null Het
Ttc39b A G 4: 83,162,190 (GRCm39) I330T possibly damaging Het
Vil1 C T 1: 74,471,490 (GRCm39) T757I probably benign Het
Zfp462 T C 4: 55,060,077 (GRCm39) V1201A probably damaging Het
Zfp473 T A 7: 44,382,272 (GRCm39) E686V possibly damaging Het
Zfp998 G A 13: 66,579,887 (GRCm39) P199S probably benign Het
Other mutations in Tmem41a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0715:Tmem41a UTSW 16 21,756,740 (GRCm39) missense probably benign 0.19
R1792:Tmem41a UTSW 16 21,755,731 (GRCm39) missense probably null 1.00
R2129:Tmem41a UTSW 16 21,764,911 (GRCm39) splice site probably null
R6053:Tmem41a UTSW 16 21,753,739 (GRCm39) missense possibly damaging 0.60
R8331:Tmem41a UTSW 16 21,766,116 (GRCm39) critical splice donor site probably null
R8344:Tmem41a UTSW 16 21,756,784 (GRCm39) missense probably benign 0.19
R8354:Tmem41a UTSW 16 21,766,181 (GRCm39) missense probably benign 0.12
R9156:Tmem41a UTSW 16 21,755,859 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCTGAACAGGACAAAACG -3'
(R):5'- AGGTTCCCTGTTCTGAGTCC -3'

Sequencing Primer
(F):5'- GGACAAAACGCCCTTCTAACAG -3'
(R):5'- CCTTACAATTTCATCTGCGTGCAG -3'
Posted On 2016-09-01