Incidental Mutation 'R0056:Gm5346'
ID18432
Institutional Source Beutler Lab
Gene Symbol Gm5346
Ensembl Gene ENSMUSG00000050190
Gene Namepredicted gene 5346
Synonyms
MMRRC Submission 038350-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #R0056 (G1)
Quality Score
Status Validated
Chromosome8
Chromosomal Location43624951-43627276 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 43625503 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 561 (C561*)
Ref Sequence ENSEMBL: ENSMUSP00000058858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056023]
Predicted Effect probably null
Transcript: ENSMUST00000056023
AA Change: C561*
SMART Domains Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: C561*

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Pep_M12B_propep 39 159 1.3e-18 PFAM
Pfam:Reprolysin_5 205 384 1.1e-15 PFAM
Pfam:Reprolysin_4 205 393 6.2e-9 PFAM
Pfam:Reprolysin 207 397 1.7e-46 PFAM
Pfam:Reprolysin_2 223 389 5.7e-14 PFAM
Pfam:Reprolysin_3 231 352 2.6e-13 PFAM
DISIN 416 491 2.48e-38 SMART
ACR 492 628 3.4e-65 SMART
EGF 634 664 2.69e1 SMART
transmembrane domain 685 707 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.7%
  • 20x: 65.9%
Validation Efficiency 89% (66/74)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfn1 A G 11: 89,391,676 S1061P possibly damaging Het
Atp9b A G 18: 80,765,803 S634P probably damaging Het
Bche A T 3: 73,701,321 N257K possibly damaging Het
Bms1 A T 6: 118,405,229 D449E probably benign Het
C630050I24Rik G T 8: 107,119,394 V59F unknown Het
Camkk2 C T 5: 122,742,198 E452K probably damaging Het
Ccdc121 T C 1: 181,510,553 Y278C probably damaging Het
Chd9 A G 8: 90,933,537 H375R possibly damaging Het
Entpd7 T A 19: 43,725,294 V364E probably benign Het
Epb41l3 A T 17: 69,253,397 D313V probably damaging Het
Etv6 G T 6: 134,248,534 E154* probably null Het
Fshr T G 17: 88,988,457 H274P probably damaging Het
G3bp1 A G 11: 55,498,041 N360D probably benign Het
Gdf11 C T 10: 128,886,425 R187H probably benign Het
Gpihbp1 T A 15: 75,597,133 I52N probably damaging Het
H1foo G T 6: 115,946,973 probably benign Het
Htt T C 5: 34,826,078 probably benign Het
Iqcm A G 8: 75,753,386 Q324R probably benign Het
Kcng3 A G 17: 83,587,756 L427P probably damaging Het
Klk7 T C 7: 43,812,010 L17P possibly damaging Het
Klrd1 G A 6: 129,593,775 V50I probably benign Het
Lama5 A T 2: 180,187,106 probably benign Het
Lamtor3 T A 3: 137,926,950 probably benign Het
Lyplal1 G A 1: 186,088,566 T228I probably benign Het
Mapk6 A G 9: 75,388,816 Y467H possibly damaging Het
March6 T C 15: 31,467,734 T776A possibly damaging Het
Mogat1 T G 1: 78,523,770 M157R probably damaging Het
Morc2b T A 17: 33,138,759 Q13L possibly damaging Het
Myo1h C T 5: 114,330,212 T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 probably null Het
Nobox A G 6: 43,304,919 C407R probably benign Het
Nupl1 A G 14: 60,239,475 probably null Het
Olfr684 A G 7: 105,157,122 S187P probably benign Het
Otoa A G 7: 121,131,347 Y590C probably benign Het
Pelp1 A T 11: 70,393,832 V1070E unknown Het
Pglyrp3 G T 3: 92,025,804 probably benign Het
Plpp2 A G 10: 79,527,229 F189S probably damaging Het
Polr2b T C 5: 77,334,535 I640T possibly damaging Het
Ryr2 T A 13: 11,669,038 T3047S probably damaging Het
Snx25 A T 8: 46,038,513 W847R probably damaging Het
Son T C 16: 91,678,155 Y454H possibly damaging Het
Sos1 A T 17: 80,413,621 N923K probably damaging Het
Tex15 A G 8: 33,582,027 H2534R probably benign Het
Ticam2 G T 18: 46,560,334 Q229K possibly damaging Het
Tnfaip3 A T 10: 19,005,293 V342E probably damaging Het
Traf6 A G 2: 101,697,151 I415M possibly damaging Het
Trpm1 A G 7: 64,243,586 D1062G probably damaging Het
Wdr59 C T 8: 111,480,607 probably benign Het
Other mutations in Gm5346
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Gm5346 APN 8 43625381 missense probably benign 0.12
IGL00391:Gm5346 APN 8 43625629 missense probably damaging 1.00
IGL00422:Gm5346 APN 8 43626351 missense probably damaging 1.00
IGL00664:Gm5346 APN 8 43625969 missense probably benign
IGL01095:Gm5346 APN 8 43626096 missense probably benign 0.22
IGL01113:Gm5346 APN 8 43626152 missense probably damaging 1.00
IGL01444:Gm5346 APN 8 43626433 missense probably benign 0.06
IGL01782:Gm5346 APN 8 43626735 missense probably benign 0.01
IGL01921:Gm5346 APN 8 43625511 missense probably damaging 0.96
IGL01964:Gm5346 APN 8 43626761 missense probably benign 0.00
IGL02139:Gm5346 APN 8 43625578 missense probably benign 0.01
IGL02555:Gm5346 APN 8 43625268 missense probably damaging 1.00
IGL02951:Gm5346 APN 8 43627088 missense possibly damaging 0.62
R0218:Gm5346 UTSW 8 43626440 missense probably benign 0.00
R0530:Gm5346 UTSW 8 43626531 missense probably benign 0.00
R0925:Gm5346 UTSW 8 43626303 missense probably benign 0.11
R0927:Gm5346 UTSW 8 43625123 missense probably benign 0.00
R0975:Gm5346 UTSW 8 43625118 missense probably benign
R1300:Gm5346 UTSW 8 43626844 nonsense probably null
R1728:Gm5346 UTSW 8 43625583 missense probably damaging 1.00
R1729:Gm5346 UTSW 8 43625583 missense probably damaging 1.00
R1801:Gm5346 UTSW 8 43625917 nonsense probably null
R1869:Gm5346 UTSW 8 43625095 nonsense probably null
R1870:Gm5346 UTSW 8 43625095 nonsense probably null
R1871:Gm5346 UTSW 8 43625095 nonsense probably null
R1992:Gm5346 UTSW 8 43627139 missense probably benign 0.44
R2008:Gm5346 UTSW 8 43627037 missense probably benign 0.00
R2013:Gm5346 UTSW 8 43626405 missense possibly damaging 0.81
R2022:Gm5346 UTSW 8 43625917 nonsense probably null
R2175:Gm5346 UTSW 8 43625438 missense probably benign
R2875:Gm5346 UTSW 8 43627140 nonsense probably null
R3406:Gm5346 UTSW 8 43626052 nonsense probably null
R3845:Gm5346 UTSW 8 43626632 missense probably benign 0.00
R4033:Gm5346 UTSW 8 43626673 missense probably benign 0.28
R4072:Gm5346 UTSW 8 43626350 missense probably damaging 1.00
R4074:Gm5346 UTSW 8 43626350 missense probably damaging 1.00
R4075:Gm5346 UTSW 8 43626350 missense probably damaging 1.00
R4076:Gm5346 UTSW 8 43626350 missense probably damaging 1.00
R4153:Gm5346 UTSW 8 43626527 missense probably benign 0.04
R4330:Gm5346 UTSW 8 43626250 missense probably benign
R4612:Gm5346 UTSW 8 43626550 missense probably benign 0.09
R4662:Gm5346 UTSW 8 43627079 missense probably benign 0.26
R5032:Gm5346 UTSW 8 43626471 missense probably damaging 1.00
R5077:Gm5346 UTSW 8 43627163 missense possibly damaging 0.79
R5504:Gm5346 UTSW 8 43625282 missense probably damaging 1.00
R5697:Gm5346 UTSW 8 43626579 missense probably damaging 1.00
R6232:Gm5346 UTSW 8 43625912 missense probably benign 0.00
R6233:Gm5346 UTSW 8 43625912 missense probably benign 0.00
R6234:Gm5346 UTSW 8 43625912 missense probably benign 0.00
R6235:Gm5346 UTSW 8 43625912 missense probably benign 0.00
R6241:Gm5346 UTSW 8 43626096 missense probably benign 0.22
R6392:Gm5346 UTSW 8 43626001 missense probably benign 0.09
R6439:Gm5346 UTSW 8 43625951 missense probably damaging 1.00
R6454:Gm5346 UTSW 8 43626808 missense probably damaging 0.96
R6455:Gm5346 UTSW 8 43626152 missense probably damaging 1.00
R6767:Gm5346 UTSW 8 43626914 missense probably damaging 1.00
R6774:Gm5346 UTSW 8 43625183 missense probably benign 0.00
R6877:Gm5346 UTSW 8 43625237 missense probably benign 0.02
R6911:Gm5346 UTSW 8 43625109 missense probably benign 0.02
R7211:Gm5346 UTSW 8 43625877 missense probably damaging 1.00
R7597:Gm5346 UTSW 8 43625244 missense probably damaging 1.00
R7602:Gm5346 UTSW 8 43626666 missense probably damaging 0.99
R7797:Gm5346 UTSW 8 43626374 missense probably benign 0.04
RF001:Gm5346 UTSW 8 43626905 missense possibly damaging 0.79
Z1177:Gm5346 UTSW 8 43626546 missense probably damaging 0.99
Posted On2013-03-25