Incidental Mutation 'R9576:Tm7sf3'
ID 722279
Institutional Source Beutler Lab
Gene Symbol Tm7sf3
Ensembl Gene ENSMUSG00000040234
Gene Name transmembrane 7 superfamily member 3
Synonyms 2010003B14Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R9576 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 146503774-146536103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 146511335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 385 (G385W)
Ref Sequence ENSEMBL: ENSMUSP00000045650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037709] [ENSMUST00000127529]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000037709
AA Change: G385W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045650
Gene: ENSMUSG00000040234
AA Change: G385W

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:DUF4203 291 498 8.5e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127529
SMART Domains Protein: ENSMUSP00000118517
Gene: ENSMUSG00000040234

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,947,843 (GRCm39) I580N probably benign Het
Aars1 T A 8: 111,768,296 (GRCm39) Y222* probably null Het
Abi2 G T 1: 60,449,008 (GRCm39) R16L possibly damaging Het
Adam9 C A 8: 25,445,953 (GRCm39) V814F probably benign Het
Adgrv1 T C 13: 81,691,608 (GRCm39) T1660A probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Arhgap26 T A 18: 39,253,207 (GRCm39) Y211* probably null Het
Ascc3 T C 10: 50,494,254 (GRCm39) Y230H possibly damaging Het
Btg4 C A 9: 51,030,436 (GRCm39) Q179K probably damaging Het
Ccdc150 G T 1: 54,407,544 (GRCm39) E1107* probably null Het
Ccdc88c T C 12: 100,911,749 (GRCm39) D695G possibly damaging Het
Cd200r4 A G 16: 44,658,338 (GRCm39) T241A Het
Chd9 T A 8: 91,659,294 (GRCm39) S85T unknown Het
Cltc G A 11: 86,593,237 (GRCm39) S1542F probably benign Het
Col6a4 C A 9: 105,945,271 (GRCm39) A948S probably benign Het
Crygb T C 1: 65,119,686 (GRCm39) D98G probably benign Het
Ctbp2 A T 7: 132,616,198 (GRCm39) S246T probably benign Het
Dcp1b T A 6: 119,196,993 (GRCm39) Y563* probably null Het
Ddx59 T A 1: 136,344,681 (GRCm39) Y117* probably null Het
Dhx30 A G 9: 109,916,712 (GRCm39) L601P probably damaging Het
Dnah5 C T 15: 28,272,286 (GRCm39) T1030M probably benign Het
Dpp10 A G 1: 123,269,409 (GRCm39) S667P probably damaging Het
Epha7 G A 4: 28,870,659 (GRCm39) C312Y probably damaging Het
Gbf1 A T 19: 46,248,122 (GRCm39) T300S probably benign Het
Glp2r T C 11: 67,655,622 (GRCm39) K40R probably benign Het
H2-Q5 G A 17: 35,613,413 (GRCm39) V49M Het
Havcr1 T A 11: 46,669,391 (GRCm39) V290E probably benign Het
Hc T A 2: 34,873,767 (GRCm39) T1656S probably benign Het
Hfm1 A T 5: 107,021,938 (GRCm39) I999N probably benign Het
Hoxc4 A T 15: 102,944,384 (GRCm39) E254V probably benign Het
Il5ra T C 6: 106,712,688 (GRCm39) N275S probably damaging Het
Itfg2 C A 6: 128,389,950 (GRCm39) A272S probably benign Het
Itpr2 A T 6: 146,212,505 (GRCm39) I1537N probably damaging Het
Jakmip3 A G 7: 138,621,988 (GRCm39) E296G probably damaging Het
Jchain T G 5: 88,673,976 (GRCm39) E56A probably damaging Het
Kcnh5 A T 12: 74,944,307 (GRCm39) S981T probably benign Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Klk1b4 A T 7: 43,860,477 (GRCm39) D165V probably benign Het
Krt1c T A 15: 101,719,792 (GRCm39) Y626F unknown Het
Lrrk2 T A 15: 91,636,388 (GRCm39) L1454* probably null Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Myo18a T A 11: 77,709,827 (GRCm39) I607N probably damaging Het
Nefh C T 11: 4,891,222 (GRCm39) E466K possibly damaging Het
Nudc T C 4: 133,262,989 (GRCm39) E118G probably benign Het
Or2aj6 A T 16: 19,442,961 (GRCm39) D296E probably damaging Het
Or56a3 T C 7: 104,735,760 (GRCm39) L279S probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Per1 T A 11: 68,998,855 (GRCm39) M1142K probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Plec C A 15: 76,115,377 (GRCm39) A66S probably benign Het
Plekha7 T C 7: 115,728,669 (GRCm39) Y1199C possibly damaging Het
Pou2f2 C A 7: 24,796,569 (GRCm39) A302S probably benign Het
Prkag3 A T 1: 74,787,082 (GRCm39) W59R Het
Rin3 T A 12: 102,335,589 (GRCm39) L420* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Serpina3i A G 12: 104,234,730 (GRCm39) T354A probably benign Het
Skap1 T C 11: 96,472,030 (GRCm39) F101S probably benign Het
Slc16a8 T A 15: 79,136,182 (GRCm39) Q340L probably damaging Het
Slc2a12 A T 10: 22,578,004 (GRCm39) Q600L possibly damaging Het
Slc39a14 T G 14: 70,556,235 (GRCm39) D47A probably benign Het
Slfn9 T A 11: 82,878,211 (GRCm39) Y306F possibly damaging Het
Sos1 T C 17: 80,742,367 (GRCm39) M387V probably benign Het
Srl A T 16: 4,301,031 (GRCm39) L680Q probably damaging Het
Tas1r3 C T 4: 155,946,822 (GRCm39) R261H probably benign Het
Tmem191 C T 16: 17,094,526 (GRCm39) R62* probably null Het
Triobp T C 15: 78,844,266 (GRCm39) S161P probably damaging Het
Usp13 A T 3: 32,969,135 (GRCm39) probably null Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r230 C A 17: 21,067,163 (GRCm39) C117* probably null Het
Vmn2r50 T C 7: 9,771,190 (GRCm39) Q837R probably benign Het
Zfp618 T C 4: 63,051,282 (GRCm39) S688P probably benign Het
Other mutations in Tm7sf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Tm7sf3 APN 6 146,507,692 (GRCm39) missense possibly damaging 0.51
IGL01930:Tm7sf3 APN 6 146,512,431 (GRCm39) missense possibly damaging 0.71
IGL02073:Tm7sf3 APN 6 146,525,208 (GRCm39) missense possibly damaging 0.96
IGL02720:Tm7sf3 APN 6 146,514,872 (GRCm39) splice site probably benign
IGL02815:Tm7sf3 APN 6 146,514,971 (GRCm39) splice site probably null
IGL03255:Tm7sf3 APN 6 146,507,618 (GRCm39) unclassified probably benign
R0245:Tm7sf3 UTSW 6 146,520,107 (GRCm39) missense possibly damaging 0.53
R0402:Tm7sf3 UTSW 6 146,507,685 (GRCm39) missense possibly damaging 0.95
R0687:Tm7sf3 UTSW 6 146,523,388 (GRCm39) missense possibly damaging 0.96
R0763:Tm7sf3 UTSW 6 146,507,787 (GRCm39) missense possibly damaging 0.93
R1419:Tm7sf3 UTSW 6 146,505,475 (GRCm39) missense possibly damaging 0.71
R1511:Tm7sf3 UTSW 6 146,511,376 (GRCm39) missense probably benign 0.05
R4880:Tm7sf3 UTSW 6 146,511,358 (GRCm39) missense possibly damaging 0.93
R5930:Tm7sf3 UTSW 6 146,505,409 (GRCm39) missense possibly damaging 0.53
R6160:Tm7sf3 UTSW 6 146,507,787 (GRCm39) nonsense probably null
R6229:Tm7sf3 UTSW 6 146,514,887 (GRCm39) missense possibly damaging 0.71
R6755:Tm7sf3 UTSW 6 146,511,471 (GRCm39) splice site probably null
R6912:Tm7sf3 UTSW 6 146,527,601 (GRCm39) missense possibly damaging 0.91
R6920:Tm7sf3 UTSW 6 146,507,645 (GRCm39) missense possibly damaging 0.71
R8913:Tm7sf3 UTSW 6 146,527,621 (GRCm39) nonsense probably null
R9364:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9365:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9367:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9371:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9372:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9396:Tm7sf3 UTSW 6 146,523,472 (GRCm39) missense possibly damaging 0.53
R9447:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9449:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9450:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9451:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9454:Tm7sf3 UTSW 6 146,520,041 (GRCm39) missense probably benign 0.00
R9495:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9496:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9497:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9514:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9516:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9551:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9552:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9553:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9652:Tm7sf3 UTSW 6 146,527,698 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATTCTAAGGTCCCCAAGGAGG -3'
(R):5'- AGGGTGACTACCTTAAGCTTATCC -3'

Sequencing Primer
(F):5'- AAGGAGGGTGCTCTCAGCTG -3'
(R):5'- CTGAAGCTCAGGTTGAAGCC -3'
Posted On 2022-08-09