Incidental Mutation 'R0033:Tm7sf2'
ID 64568
Institutional Source Beutler Lab
Gene Symbol Tm7sf2
Ensembl Gene ENSMUSG00000024799
Gene Name transmembrane 7 superfamily member 2
Synonyms ANG1, 3110041O18Rik
MMRRC Submission 038327-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0033 (G1)
Quality Score 212
Status Validated
Chromosome 19
Chromosomal Location 6112851-6117880 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 6116452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025711] [ENSMUST00000025713] [ENSMUST00000113543] [ENSMUST00000159084] [ENSMUST00000161090] [ENSMUST00000161528] [ENSMUST00000159832] [ENSMUST00000160028] [ENSMUST00000162810] [ENSMUST00000162575] [ENSMUST00000162726] [ENSMUST00000161718]
AlphaFold Q71KT5
Predicted Effect probably benign
Transcript: ENSMUST00000025711
SMART Domains Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Pfam:COG2 56 191 2.6e-10 PFAM
Pfam:DUF2450 62 250 2.3e-14 PFAM
Pfam:Vps51 63 149 1.1e-26 PFAM
Pfam:Dor1 75 246 1.8e-19 PFAM
Pfam:Zw10 83 291 2.2e-8 PFAM
Pfam:Sec5 101 275 6.5e-24 PFAM
low complexity region 377 391 N/A INTRINSIC
low complexity region 523 532 N/A INTRINSIC
low complexity region 743 758 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025713
SMART Domains Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 7 418 1.6e-141 PFAM
Pfam:DUF1295 250 409 9.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113543
SMART Domains Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 7 373 9.9e-112 PFAM
Pfam:DUF1295 249 396 2.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159084
SMART Domains Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 7 300 6.4e-75 PFAM
Pfam:ERG4_ERG24 292 391 2.2e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159211
Predicted Effect probably benign
Transcript: ENSMUST00000159475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160417
Predicted Effect probably benign
Transcript: ENSMUST00000161090
SMART Domains Protein: ENSMUSP00000125543
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161528
SMART Domains Protein: ENSMUSP00000123989
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 7 109 5.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161222
Predicted Effect probably benign
Transcript: ENSMUST00000159832
SMART Domains Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Pfam:COG2 56 191 2e-10 PFAM
Pfam:DUF2450 62 250 1.9e-14 PFAM
Pfam:Vps51 63 149 8.3e-27 PFAM
Pfam:Dor1 75 246 1.8e-19 PFAM
Pfam:Sec5 101 275 1.6e-19 PFAM
low complexity region 276 292 N/A INTRINSIC
low complexity region 377 391 N/A INTRINSIC
low complexity region 523 532 N/A INTRINSIC
low complexity region 743 758 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160028
SMART Domains Protein: ENSMUSP00000124847
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162810
SMART Domains Protein: ENSMUSP00000124825
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 9 124 6.9e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162575
SMART Domains Protein: ENSMUSP00000125586
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:ERG4_ERG24 51 229 5.5e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162549
Predicted Effect probably benign
Transcript: ENSMUST00000162726
SMART Domains Protein: ENSMUSP00000134031
Gene: ENSMUSG00000075227

DomainStartEndE-ValueType
Pfam:zf-HIT 3 36 2e-15 PFAM
low complexity region 54 97 N/A INTRINSIC
low complexity region 120 140 N/A INTRINSIC
low complexity region 167 205 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161718
SMART Domains Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 1 197 5.7e-86 PFAM
Pfam:DUF1295 46 185 1e-8 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 100% (81/81)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit normal plasma cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,115,794 (GRCm39) F110L probably damaging Het
Agr3 C T 12: 35,978,329 (GRCm39) T14M possibly damaging Het
Ankib1 A C 5: 3,819,588 (GRCm39) D110E possibly damaging Het
Auts2 G C 5: 131,468,931 (GRCm39) D571E probably damaging Het
Cacna1d T A 14: 29,827,446 (GRCm39) Q993L probably damaging Het
Cdkn3 C A 14: 47,006,329 (GRCm39) Y141* probably null Het
Ceacam12 T G 7: 17,803,385 (GRCm39) probably benign Het
Celf1 T C 2: 90,831,798 (GRCm39) probably benign Het
Col6a3 A G 1: 90,729,967 (GRCm39) S1780P probably damaging Het
Csf3r A G 4: 125,925,677 (GRCm39) T151A probably benign Het
Ctss G A 3: 95,452,888 (GRCm39) probably benign Het
Emilin2 G T 17: 71,582,009 (GRCm39) T239K probably benign Het
Erp44 T C 4: 48,241,289 (GRCm39) probably benign Het
Fbxl4 T C 4: 22,377,017 (GRCm39) V151A probably damaging Het
Fer1l4 G A 2: 155,866,026 (GRCm39) probably benign Het
Gm43302 T C 5: 105,424,710 (GRCm39) D310G probably benign Het
Gstk1 A G 6: 42,223,737 (GRCm39) probably benign Het
Hapln1 A T 13: 89,749,932 (GRCm39) Q159L probably benign Het
Hibch A G 1: 52,944,610 (GRCm39) K296R probably null Het
Katnip T G 7: 125,360,999 (GRCm39) V103G possibly damaging Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kdm7a A T 6: 39,142,131 (GRCm39) Y382* probably null Het
Kirrel3 A G 9: 34,912,259 (GRCm39) I208V probably benign Het
Klc4 A T 17: 46,946,359 (GRCm39) C489S probably damaging Het
Lrrc8a G T 2: 30,145,357 (GRCm39) C57F probably damaging Het
Ltbp1 A G 17: 75,583,504 (GRCm39) N435D possibly damaging Het
Macc1 T A 12: 119,410,076 (GRCm39) N281K probably benign Het
Myo16 A T 8: 10,420,955 (GRCm39) Y265F probably damaging Het
Myoc G A 1: 162,476,010 (GRCm39) G238E probably damaging Het
Nlrp12 A C 7: 3,289,037 (GRCm39) S492A probably damaging Het
Obscn A G 11: 58,885,572 (GRCm39) probably benign Het
Oplah T A 15: 76,181,334 (GRCm39) Q1202L probably benign Het
Or5p62 G T 7: 107,771,134 (GRCm39) D272E probably benign Het
Or9s23 A G 1: 92,500,982 (GRCm39) T30A probably benign Het
Ppargc1b G A 18: 61,440,765 (GRCm39) R718W probably damaging Het
Pramel19 A T 4: 101,798,881 (GRCm39) Y284F probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rnf225 T C 7: 12,662,085 (GRCm39) L88P probably damaging Het
Slc12a1 A G 2: 125,055,929 (GRCm39) D820G probably benign Het
Slc12a4 G T 8: 106,674,111 (GRCm39) probably benign Het
Slx4 C T 16: 3,805,864 (GRCm39) A72T probably benign Het
Snrnp200 T C 2: 127,079,983 (GRCm39) I1920T probably damaging Het
Stap2 C T 17: 56,306,976 (GRCm39) V234M probably damaging Het
Sv2b A G 7: 74,767,489 (GRCm39) F636L probably benign Het
Tdp1 C T 12: 99,901,311 (GRCm39) T531I probably benign Het
Thra G A 11: 98,655,178 (GRCm39) V353I probably benign Het
Tmx4 A T 2: 134,442,918 (GRCm39) probably null Het
Tnfrsf12a A G 17: 23,895,119 (GRCm39) probably null Het
Trav6n-5 T A 14: 53,342,368 (GRCm39) M14K probably benign Het
Ttn T A 2: 76,572,624 (GRCm39) I26090F probably damaging Het
Tut1 G T 19: 8,940,123 (GRCm39) R369L probably benign Het
Uba5 T A 9: 103,931,347 (GRCm39) T241S probably benign Het
Unc13d T C 11: 115,959,991 (GRCm39) T597A probably benign Het
Vmn1r58 A T 7: 5,413,387 (GRCm39) I281K probably damaging Het
Vmn1r59 A G 7: 5,457,433 (GRCm39) V109A probably benign Het
Xdh T A 17: 74,214,627 (GRCm39) M773L probably benign Het
Zfp64 A T 2: 168,767,635 (GRCm39) I659N possibly damaging Het
Other mutations in Tm7sf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02292:Tm7sf2 APN 19 6,113,598 (GRCm39) missense probably damaging 1.00
IGL03299:Tm7sf2 APN 19 6,112,958 (GRCm39) missense probably benign 0.03
PIT4791001:Tm7sf2 UTSW 19 6,113,635 (GRCm39) missense probably benign 0.00
R0033:Tm7sf2 UTSW 19 6,116,452 (GRCm39) splice site probably benign
R1607:Tm7sf2 UTSW 19 6,113,049 (GRCm39) splice site probably null
R3415:Tm7sf2 UTSW 19 6,113,629 (GRCm39) missense probably damaging 1.00
R5392:Tm7sf2 UTSW 19 6,113,998 (GRCm39) missense probably damaging 1.00
R5835:Tm7sf2 UTSW 19 6,113,914 (GRCm39) missense probably damaging 1.00
R5886:Tm7sf2 UTSW 19 6,116,572 (GRCm39) unclassified probably benign
R6065:Tm7sf2 UTSW 19 6,113,416 (GRCm39) missense possibly damaging 0.65
R6300:Tm7sf2 UTSW 19 6,117,230 (GRCm39) missense probably damaging 1.00
R6915:Tm7sf2 UTSW 19 6,118,342 (GRCm39) missense probably damaging 0.99
R7037:Tm7sf2 UTSW 19 6,114,107 (GRCm39) critical splice donor site probably null
R7073:Tm7sf2 UTSW 19 6,116,527 (GRCm39) critical splice donor site probably null
R7328:Tm7sf2 UTSW 19 6,114,156 (GRCm39) missense possibly damaging 0.63
R7373:Tm7sf2 UTSW 19 6,116,676 (GRCm39) missense probably benign 0.39
R7612:Tm7sf2 UTSW 19 6,120,638 (GRCm39) missense probably benign 0.08
R7779:Tm7sf2 UTSW 19 6,112,947 (GRCm39) missense possibly damaging 0.95
R7903:Tm7sf2 UTSW 19 6,121,365 (GRCm39) missense probably damaging 1.00
R7904:Tm7sf2 UTSW 19 6,118,942 (GRCm39) missense probably damaging 0.96
R8082:Tm7sf2 UTSW 19 6,116,351 (GRCm39) missense probably damaging 1.00
R8155:Tm7sf2 UTSW 19 6,114,125 (GRCm39) missense probably damaging 1.00
R8428:Tm7sf2 UTSW 19 6,113,074 (GRCm39) missense probably benign 0.00
R8993:Tm7sf2 UTSW 19 6,113,956 (GRCm39) missense probably damaging 1.00
R9038:Tm7sf2 UTSW 19 6,117,172 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCCAAGTCCAGCAGAATTAAGTCC -3'
(R):5'- TTGGAAGTATGCAAGCCACCCC -3'

Sequencing Primer
(F):5'- GCAGAATTAAGTCCAGCATGTC -3'
(R):5'- TCCAGGCTCTGGTGCTAAC -3'
Posted On 2013-08-06