Incidental Mutation 'R6247:Tmem184a'
ID505681
Institutional Source Beutler Lab
Gene Symbol Tmem184a
Ensembl Gene ENSMUSG00000036687
Gene Nametransmembrane protein 184a
SynonymsSdmg1
MMRRC Submission 044366-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #R6247 (G1)
Quality Score112.008
Status Not validated
Chromosome5
Chromosomal Location139802485-139819917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 139813072 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 41 (V41L)
Ref Sequence ENSEMBL: ENSMUSP00000119412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044002] [ENSMUST00000110832] [ENSMUST00000146780] [ENSMUST00000147328] [ENSMUST00000182839]
Predicted Effect probably benign
Transcript: ENSMUST00000044002
AA Change: V65L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035399
Gene: ENSMUSG00000036687
AA Change: V65L

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
low complexity region 46 54 N/A INTRINSIC
Pfam:Solute_trans_a 82 356 2.2e-93 PFAM
low complexity region 408 435 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110832
AA Change: V41L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106456
Gene: ENSMUSG00000036687
AA Change: V41L

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
Pfam:Solute_trans_a 55 332 6.7e-101 PFAM
low complexity region 384 411 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146780
AA Change: V41L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000117714
Gene: ENSMUSG00000036687
AA Change: V41L

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147328
AA Change: V41L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000119412
Gene: ENSMUSG00000036687
AA Change: V41L

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000182839
AA Change: V113L
SMART Domains Protein: ENSMUSP00000138120
Gene: ENSMUSG00000098140
AA Change: V113L

DomainStartEndE-ValueType
Pfam:DUF2372 34 82 2e-14 PFAM
low complexity region 94 102 N/A INTRINSIC
Pfam:Solute_trans_a 127 226 3.5e-36 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,158,942 D871G probably benign Het
A4galt G T 15: 83,227,819 H254Q probably damaging Het
AA986860 C A 1: 130,743,043 T334K possibly damaging Het
Abca13 T C 11: 9,403,874 I3732T probably benign Het
Abcf1 C T 17: 35,961,064 D353N probably damaging Het
Adssl1 A G 12: 112,628,356 H83R probably damaging Het
Amer2 C A 14: 60,378,872 A172E probably damaging Het
Ankhd1 A G 18: 36,654,146 T2300A probably benign Het
Ano5 G A 7: 51,566,131 probably null Het
Apob G A 12: 8,001,801 G1109D probably damaging Het
Arhgef26 A T 3: 62,380,960 N484Y probably damaging Het
C6 A G 15: 4,763,541 D376G probably damaging Het
Caml T C 13: 55,625,173 probably null Het
Capn12 T C 7: 28,888,652 L473S probably benign Het
Cdk6 G A 5: 3,344,553 probably null Het
Cers5 A T 15: 99,745,924 C153S probably benign Het
Cfap206 T C 4: 34,692,530 M499V probably benign Het
Chd6 A G 2: 160,950,048 M2463T probably damaging Het
Chn1 T C 2: 73,707,006 E58G possibly damaging Het
Clec4a1 T C 6: 122,928,042 V100A probably benign Het
Col7a1 G C 9: 108,981,062 probably benign Het
Csmd1 A G 8: 16,196,235 V1050A possibly damaging Het
Dab1 C T 4: 104,731,751 A524V probably benign Het
Dennd5a A T 7: 109,898,682 C1044S probably damaging Het
Dnah7b A G 1: 46,225,888 T2181A probably benign Het
Dnaic1 T C 4: 41,605,775 V255A probably benign Het
Dync2h1 A G 9: 7,135,078 C1518R probably damaging Het
Dysf T C 6: 84,066,999 V273A probably damaging Het
Eif1 C T 11: 100,320,397 probably benign Het
Eml3 T C 19: 8,930,949 I58T probably benign Het
Fam171b T A 2: 83,879,208 I408N probably damaging Het
Fchsd2 A G 7: 101,253,540 E351G probably benign Het
Focad G A 4: 88,407,140 A81T possibly damaging Het
Fpr-rs4 G A 17: 18,022,486 V252I probably benign Het
Fryl A G 5: 73,065,481 L1919P probably damaging Het
Gm12185 C T 11: 48,915,908 R152H probably damaging Het
Gm14410 C T 2: 177,193,724 G249E probably damaging Het
Gm3854 T C 7: 6,353,946 C253R probably damaging Het
Gm6685 A T 11: 28,339,706 S37T possibly damaging Het
Greb1 G A 12: 16,716,675 P374L probably damaging Het
Hdac4 A T 1: 92,012,838 probably null Het
Hecw1 A T 13: 14,234,425 L1099* probably null Het
Hivep1 T C 13: 42,157,490 S1069P probably benign Het
Itgad T C 7: 128,185,787 I288T possibly damaging Het
Kif9 A G 9: 110,488,544 M96V possibly damaging Het
Kncn T A 4: 115,884,790 V18E probably damaging Het
Lrrc74a G A 12: 86,758,556 G384D probably damaging Het
Ltb4r2 T C 14: 55,762,651 V243A probably damaging Het
Mtnr1b T A 9: 15,862,786 I326L probably benign Het
Mylip C T 13: 45,408,481 T253I probably damaging Het
Necap1 T A 6: 122,880,652 probably null Het
Nedd4 C T 9: 72,726,438 P409S probably damaging Het
Npat A T 9: 53,545,238 E36D probably damaging Het
Ovch2 C T 7: 107,785,441 V490M probably damaging Het
Pax9 T C 12: 56,709,695 S273P probably benign Het
Plce1 A G 19: 38,745,845 E1563G probably damaging Het
Podxl2 C A 6: 88,849,317 G336* probably null Het
Prdm1 A G 10: 44,446,786 probably null Het
Psme4 T C 11: 30,853,245 I29T possibly damaging Het
Ptprd A T 4: 76,066,291 D780E probably benign Het
Retsat T C 6: 72,604,935 M294T probably benign Het
Robo2 A T 16: 73,967,784 V652D probably damaging Het
Rptn C G 3: 93,398,130 H923Q possibly damaging Het
Serpinb3d G T 1: 107,082,760 T66K probably benign Het
Setd1b A T 5: 123,158,398 probably benign Het
Slc7a10 G T 7: 35,186,587 A36S possibly damaging Het
Sstr3 T A 15: 78,539,588 I320F probably damaging Het
Syne1 G T 10: 5,349,071 A1005E probably damaging Het
Syngap1 C A 17: 26,962,957 S975* probably null Het
Tinagl1 C T 4: 130,172,932 C124Y probably null Het
Tm9sf1 C T 14: 55,636,370 R557H probably damaging Het
Tmed2 T A 5: 124,546,992 I68K possibly damaging Het
Tmem104 A G 11: 115,243,993 T451A probably benign Het
Tmem141 T C 2: 25,621,681 probably null Het
Tmem39b C T 4: 129,686,791 V303I possibly damaging Het
Tsn T C 1: 118,305,209 I122V probably benign Het
Ttc41 G T 10: 86,776,663 V1267L probably benign Het
Uggt1 A T 1: 36,163,228 L1096Q probably damaging Het
Usp50 A T 2: 126,775,793 I244N probably benign Het
Vil1 A G 1: 74,432,339 S760G probably benign Het
Wasf1 T A 10: 40,937,745 V541E unknown Het
Zc3h13 G T 14: 75,343,736 S1721I probably benign Het
Zfp180 G T 7: 24,105,105 K316N probably damaging Het
Zfp709 TCGACG TCG 8: 71,890,708 probably benign Het
Zfp759 A G 13: 67,140,460 T692A probably benign Het
Zfyve26 A G 12: 79,282,984 V476A probably benign Het
Other mutations in Tmem184a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01800:Tmem184a APN 5 139813144 missense possibly damaging 0.90
IGL02111:Tmem184a APN 5 139813101 missense possibly damaging 0.92
IGL02483:Tmem184a APN 5 139813077 missense probably benign 0.01
IGL03352:Tmem184a APN 5 139813000 missense probably damaging 0.98
R1488:Tmem184a UTSW 5 139807640 missense probably benign 0.14
R1950:Tmem184a UTSW 5 139807626 missense probably damaging 1.00
R3610:Tmem184a UTSW 5 139807955 critical splice donor site probably null
R4690:Tmem184a UTSW 5 139805622 missense probably benign 0.01
R4977:Tmem184a UTSW 5 139808002 missense probably null 0.57
R6497:Tmem184a UTSW 5 139813000 missense probably damaging 0.99
R6515:Tmem184a UTSW 5 139808438 missense probably benign 0.39
R7348:Tmem184a UTSW 5 139814054 missense probably null 0.12
R7742:Tmem184a UTSW 5 139806989 missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGATCACAGCATCTGTCCAC -3'
(R):5'- CAGGGAAGCTTCTGTGGATG -3'

Sequencing Primer
(F):5'- AGCATCTGTCCACGGGGC -3'
(R):5'- TGACACCCACACGGCCTTG -3'
Posted On2018-02-28