Incidental Mutation 'R8319:Thumpd3'
ID641852
Institutional Source Beutler Lab
Gene Symbol Thumpd3
Ensembl Gene ENSMUSG00000030264
Gene NameTHUMP domain containing 3
SynonymsGtrosa26as
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.258) question?
Stock #R8319 (G1)
Quality Score225.009
Status Not validated
Chromosome6
Chromosomal Location113046225-113068273 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 113063146 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 330 (C330*)
Ref Sequence ENSEMBL: ENSMUSP00000032398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032398]
Predicted Effect probably null
Transcript: ENSMUST00000032398
AA Change: C330*
SMART Domains Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: C330*

DomainStartEndE-ValueType
low complexity region 142 151 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
THUMP 190 287 4.75e-12 SMART
Pfam:UPF0020 294 480 1.2e-57 PFAM
Pfam:Methyltransf_26 322 449 6.7e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,690,672 D115E probably benign Het
Abcc1 T A 16: 14,396,451 L197Q probably damaging Het
Adamts14 T G 10: 61,221,927 N547T probably benign Het
Ampd3 T A 7: 110,795,775 S301R probably benign Het
Atg9a G A 1: 75,185,698 Q523* probably null Het
Atl1 A T 12: 69,955,319 T351S probably damaging Het
Bhlhe40 TG TGG 6: 108,664,857 probably null Het
Cacna1c T C 6: 118,637,774 I1315V Het
Ccdc109b A G 3: 129,933,679 F93L probably damaging Het
Col12a1 C T 9: 79,648,697 G2013R probably damaging Het
Cpne2 A G 8: 94,553,412 D153G probably benign Het
Cryzl1 T C 16: 91,692,363 S205G probably benign Het
Cux1 C T 5: 136,565,397 A5T probably benign Het
Ddx60 T C 8: 61,942,635 probably null Het
Dnajc13 G A 9: 104,190,391 P1190S probably benign Het
Fbxw7 T A 3: 84,974,552 V526E Het
Fig4 C A 10: 41,263,101 G369C probably damaging Het
Gabra1 C T 11: 42,135,488 A326T probably damaging Het
Gbe1 G A 16: 70,488,076 G429S probably benign Het
Gm340 T A 19: 41,582,904 S179T probably damaging Het
Gtf3c5 A T 2: 28,570,494 H364Q probably benign Het
Hcfc2 T A 10: 82,738,367 I125N probably damaging Het
Hnrnpul1 A T 7: 25,754,477 D53E probably benign Het
Il18 A T 9: 50,581,518 D128V possibly damaging Het
Intu T A 3: 40,653,772 S71R probably damaging Het
Klhl6 T C 16: 19,957,190 E206G possibly damaging Het
Mdga2 T C 12: 67,221,029 Y5C unknown Het
Naip1 C A 13: 100,429,213 V354L probably benign Het
Naip5 A G 13: 100,221,659 V1023A probably benign Het
Ndufaf1 A G 2: 119,660,087 L166P probably damaging Het
Ninl A T 2: 150,959,907 L147H probably damaging Het
Olfr1259 A G 2: 89,943,680 V145A possibly damaging Het
Olfr64 A G 7: 103,893,429 I102T probably damaging Het
Otogl C T 10: 107,853,266 probably null Het
Otulin AT ATT 15: 27,606,318 probably null Het
Phf11b A C 14: 59,338,697 L30R probably damaging Het
Prdm13 G T 4: 21,679,327 H388N unknown Het
Pwwp2b T C 7: 139,255,183 V180A probably damaging Het
Reep4 T A 14: 70,546,511 S23T probably damaging Het
Rusc2 T A 4: 43,425,378 L1161Q probably damaging Het
Scgb1b3 G A 7: 31,375,979 probably null Het
Scn10a G T 9: 119,670,389 N279K probably benign Het
Smurf2 A G 11: 106,824,752 L643S probably damaging Het
Sox12 G A 2: 152,397,272 P143S unknown Het
Specc1 C T 11: 62,118,675 T339I possibly damaging Het
Tas2r139 T C 6: 42,141,786 V284A probably benign Het
Ttc26 T A 6: 38,405,945 H338Q probably damaging Het
Ttn A G 2: 76,706,954 S34877P possibly damaging Het
Zfp568 T C 7: 29,998,204 S104P possibly damaging Het
Zfp933 G A 4: 147,828,453 H50Y possibly damaging Het
Other mutations in Thumpd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Thumpd3 APN 6 113047661 missense possibly damaging 0.94
IGL01113:Thumpd3 APN 6 113060060 missense probably benign 0.36
IGL01525:Thumpd3 APN 6 113047636 missense probably damaging 1.00
IGL01560:Thumpd3 APN 6 113063159 missense possibly damaging 0.88
IGL01734:Thumpd3 APN 6 113066845 missense probably damaging 1.00
IGL01814:Thumpd3 APN 6 113063151 missense possibly damaging 0.64
IGL01901:Thumpd3 APN 6 113059971 missense probably benign 0.09
IGL01977:Thumpd3 APN 6 113059966 missense possibly damaging 0.96
IGL02697:Thumpd3 APN 6 113067295 missense probably benign 0.03
IGL02805:Thumpd3 APN 6 113066797 missense probably damaging 1.00
PIT4431001:Thumpd3 UTSW 6 113059978 missense probably benign 0.01
R0139:Thumpd3 UTSW 6 113067801 missense probably benign 0.00
R0386:Thumpd3 UTSW 6 113065660 critical splice donor site probably null
R1975:Thumpd3 UTSW 6 113055877 missense possibly damaging 0.92
R2125:Thumpd3 UTSW 6 113066788 missense probably benign 0.02
R3709:Thumpd3 UTSW 6 113055691 missense possibly damaging 0.65
R5439:Thumpd3 UTSW 6 113066864 splice site silent
R6074:Thumpd3 UTSW 6 113060010 missense possibly damaging 0.70
R6406:Thumpd3 UTSW 6 113055963 missense probably damaging 0.98
R7411:Thumpd3 UTSW 6 113056111 missense possibly damaging 0.92
R7464:Thumpd3 UTSW 6 113055769 missense probably benign 0.00
R7465:Thumpd3 UTSW 6 113047631 missense probably damaging 1.00
R7779:Thumpd3 UTSW 6 113059989 missense probably damaging 0.98
RF010:Thumpd3 UTSW 6 113056045 missense probably damaging 1.00
Z1088:Thumpd3 UTSW 6 113056030 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CAGAAGCATTGTACGCATAGGC -3'
(R):5'- CTTGGCTGTGTGAAATCAATGC -3'

Sequencing Primer
(F):5'- TGCTACTGAGTGTCAACCCCAG -3'
(R):5'- GCTGTGTGAAATCAATGCTTACAATG -3'
Posted On2020-07-28