Incidental Mutation 'R6332:Tmem248'
ID 513166
Institutional Source Beutler Lab
Gene Symbol Tmem248
Ensembl Gene ENSMUSG00000053094
Gene Name transmembrane protein 248
Synonyms G430067H08Rik, 0610007L01Rik, A930023A16Rik
MMRRC Submission 044486-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6332 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 130248585-130272606 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 130258310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000144653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065329] [ENSMUST00000111298] [ENSMUST00000200802] [ENSMUST00000202305] [ENSMUST00000202612]
AlphaFold Q3TBN1
Predicted Effect probably null
Transcript: ENSMUST00000065329
AA Change: M1K

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000067501
Gene: ENSMUSG00000053094
AA Change: M1K

DomainStartEndE-ValueType
Pfam:TMEM219 10 258 1.7e-97 PFAM
transmembrane domain 268 290 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000111298
AA Change: M1K

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106929
Gene: ENSMUSG00000053094
AA Change: M1K

DomainStartEndE-ValueType
Pfam:TMEM219 10 257 1.8e-86 PFAM
transmembrane domain 268 290 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000200802
AA Change: M1K

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144363
Gene: ENSMUSG00000053094
AA Change: M1K

DomainStartEndE-ValueType
Pfam:TMEM219 10 105 1e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000202305
AA Change: M1K

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144452
Gene: ENSMUSG00000053094
AA Change: M1K

DomainStartEndE-ValueType
Pfam:TMEM219 10 149 3.1e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000202612
AA Change: M1K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202954
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik C A 7: 42,095,667 (GRCm39) G194C possibly damaging Het
Adamtsl1 A G 4: 86,135,248 (GRCm39) K258E probably damaging Het
Afdn A T 17: 14,030,707 (GRCm39) D206V possibly damaging Het
Agt G T 8: 125,284,572 (GRCm39) Q389K possibly damaging Het
Ankrd44 A T 1: 54,801,432 (GRCm39) D298E probably damaging Het
Anks1 A G 17: 28,271,709 (GRCm39) S897G probably benign Het
Apol9b A G 15: 77,619,746 (GRCm39) probably null Het
Baz1a T C 12: 54,965,339 (GRCm39) E705G probably benign Het
BC048679 C T 7: 81,144,966 (GRCm39) V126M probably benign Het
Cep295 A G 9: 15,246,210 (GRCm39) F749L possibly damaging Het
Cntrl T A 2: 35,018,036 (GRCm39) I482K possibly damaging Het
Col6a3 A G 1: 90,749,955 (GRCm39) F293S probably damaging Het
Dnah12 T G 14: 26,439,129 (GRCm39) M527R probably damaging Het
Dnhd1 G A 7: 105,343,273 (GRCm39) R1539H probably benign Het
Ece1 A G 4: 137,685,319 (GRCm39) Y603C probably damaging Het
Eea1 G A 10: 95,877,335 (GRCm39) A1350T possibly damaging Het
Exoc3l4 A T 12: 111,394,402 (GRCm39) K507N possibly damaging Het
Flt3l A T 7: 44,783,091 (GRCm39) probably null Het
Fn1 T C 1: 71,667,230 (GRCm39) Q834R probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hycc2 T A 1: 58,569,034 (GRCm39) Y515F probably damaging Het
Ifih1 T C 2: 62,469,827 (GRCm39) N157D possibly damaging Het
Itga2 A C 13: 114,980,009 (GRCm39) M1064R probably benign Het
Itgae A G 11: 73,002,228 (GRCm39) probably null Het
Krtap10-4 T C 10: 77,662,883 (GRCm39) probably benign Het
Lamp3 A G 16: 19,518,431 (GRCm39) C269R probably damaging Het
Lrp5 T C 19: 3,709,355 (GRCm39) D125G probably damaging Het
Matn2 A C 15: 34,423,901 (GRCm39) E586D probably benign Het
Mef2b T A 8: 70,616,789 (GRCm39) probably null Het
Mrps22 A G 9: 98,483,524 (GRCm39) probably null Het
Mtmr2 T C 9: 13,711,325 (GRCm39) F445L probably damaging Het
Nxph4 A G 10: 127,362,237 (GRCm39) V218A probably damaging Het
Or1e23 A G 11: 73,408,001 (GRCm39) V8A probably benign Het
Or4f57 C T 2: 111,791,091 (GRCm39) G109D probably damaging Het
Or51k1 A G 7: 103,660,980 (GRCm39) S310P probably benign Het
Pdpk1 A T 17: 24,325,896 (GRCm39) V100D probably damaging Het
Phldb2 A C 16: 45,594,609 (GRCm39) S899A probably benign Het
Pnpla3 G A 15: 84,056,983 (GRCm39) probably null Het
Rasal2 A G 1: 157,126,757 (GRCm39) Y94H probably damaging Het
Rlf A T 4: 121,006,019 (GRCm39) I987N possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rprd2 A G 3: 95,687,753 (GRCm39) Y300H probably damaging Het
Setbp1 G A 18: 78,826,584 (GRCm39) S1343L probably benign Het
Sfswap A G 5: 129,648,105 (GRCm39) K938E possibly damaging Het
Shld2 A G 14: 33,990,129 (GRCm39) V259A probably benign Het
Slc3a1 A C 17: 85,335,860 (GRCm39) M1L probably damaging Het
Slco5a1 C T 1: 12,991,409 (GRCm39) V427I probably benign Het
Ssbp2 A T 13: 91,839,027 (GRCm39) M300L probably benign Het
Ssc5d A G 7: 4,940,521 (GRCm39) D878G probably damaging Het
Stk19 A G 17: 35,043,574 (GRCm39) L212P probably damaging Het
Stk39 T C 2: 68,240,387 (GRCm39) M115V possibly damaging Het
Syt17 A C 7: 118,033,466 (GRCm39) S181A probably benign Het
Taar7b A T 10: 23,875,849 (GRCm39) N5Y probably benign Het
Tmc4 A G 7: 3,680,421 (GRCm39) probably null Het
Tmem82 T A 4: 141,343,721 (GRCm39) Q183L probably damaging Het
Tpd52l1 T C 10: 31,214,203 (GRCm39) E142G probably damaging Het
Ttll2 A T 17: 7,619,167 (GRCm39) H253Q probably damaging Het
Ttn T C 2: 76,687,808 (GRCm39) probably benign Het
Ubd A G 17: 37,506,392 (GRCm39) K93E probably benign Het
Ugt2b35 T A 5: 87,149,415 (GRCm39) F222Y probably damaging Het
Vmn2r10 G T 5: 109,151,328 (GRCm39) N95K probably damaging Het
Vwa8 T C 14: 79,434,904 (GRCm39) V1775A probably benign Het
Zdbf2 A G 1: 63,346,981 (GRCm39) K1787E possibly damaging Het
Zfp26 A T 9: 20,348,582 (GRCm39) F661I probably damaging Het
Zfp735 A T 11: 73,602,504 (GRCm39) K483* probably null Het
Zfp946 A G 17: 22,673,519 (GRCm39) E91G probably damaging Het
Zic5 C A 14: 122,697,161 (GRCm39) D485Y unknown Het
Zmynd8 A T 2: 165,680,772 (GRCm39) D236E probably damaging Het
Other mutations in Tmem248
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1509:Tmem248 UTSW 5 130,258,295 (GRCm39) start gained probably benign
R1741:Tmem248 UTSW 5 130,265,664 (GRCm39) missense probably benign 0.04
R1782:Tmem248 UTSW 5 130,260,769 (GRCm39) missense probably damaging 1.00
R2014:Tmem248 UTSW 5 130,260,653 (GRCm39) missense probably damaging 1.00
R2197:Tmem248 UTSW 5 130,260,597 (GRCm39) missense probably benign 0.31
R2423:Tmem248 UTSW 5 130,258,403 (GRCm39) missense probably damaging 1.00
R4657:Tmem248 UTSW 5 130,260,615 (GRCm39) missense probably damaging 1.00
R4748:Tmem248 UTSW 5 130,265,731 (GRCm39) missense probably benign 0.32
R5151:Tmem248 UTSW 5 130,269,238 (GRCm39) missense probably damaging 1.00
R5719:Tmem248 UTSW 5 130,258,429 (GRCm39) missense probably damaging 1.00
R5931:Tmem248 UTSW 5 130,258,349 (GRCm39) missense probably damaging 0.99
R9146:Tmem248 UTSW 5 130,260,851 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- GGTCAGTAGATAAAAGTCTCCTATGAG -3'
(R):5'- AGCAGACACCAGGAATATACTG -3'

Sequencing Primer
(F):5'- ACACAGTGCTGGTTATGGGACC -3'
(R):5'- GACCTCAGCCATTTCTGGG -3'
Posted On 2018-04-27