Incidental Mutation 'R6292:Thumpd1'
ID 508501
Institutional Source Beutler Lab
Gene Symbol Thumpd1
Ensembl Gene ENSMUSG00000030942
Gene Name THUMP domain containing 1
Synonyms 6330575P11Rik
MMRRC Submission
Accession Numbers

Genbank: NM_145585; MGI: 2444479
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R6292 (G1)
Quality Score 158.009
Status Validated
Chromosome 7
Chromosomal Location 119715093-119720798 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119720674 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 23 (L23Q)
Ref Sequence ENSEMBL: ENSMUSP00000033236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033236]
AlphaFold Q99J36
Predicted Effect probably benign
Transcript: ENSMUST00000033236
AA Change: L23Q

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033236
Gene: ENSMUSG00000030942
AA Change: L23Q

DomainStartEndE-ValueType
THUMP 161 254 4.5e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209175
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 100% (50/50)
Allele List at MGI

All alleles(1) : Gene trapped(1)
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,200,251 V709E probably damaging Het
Ankrd33b C T 15: 31,325,085 probably null Het
Apaf1 T C 10: 90,991,563 T1202A possibly damaging Het
Apip G T 2: 103,092,467 C210F probably benign Het
Chd9 A T 8: 90,932,922 H170L probably benign Het
Clec16a T C 16: 10,560,151 probably null Het
Ep300 T A 15: 81,616,734 probably benign Het
Etl4 C T 2: 20,743,573 H39Y probably damaging Het
Gdap1l1 A T 2: 163,451,507 I218F probably damaging Het
Gm5141 A T 13: 62,774,438 C306S probably damaging Het
Gm9961 C T 16: 11,930,472 noncoding transcript Het
Gpr27 C T 6: 99,693,658 S327L possibly damaging Het
Hectd3 A C 4: 116,998,808 T435P probably damaging Het
Hs3st1 T A 5: 39,614,790 Q170L possibly damaging Het
Hykk T C 9: 54,920,826 probably null Het
Lilra5 T C 7: 4,238,339 S92P possibly damaging Het
Lrig1 A T 6: 94,616,445 N418K probably damaging Het
Miga1 A G 3: 152,317,719 F232L probably benign Het
Mkrn2 T A 6: 115,613,334 M217K probably damaging Het
Myh7b A T 2: 155,632,396 Q1677L probably damaging Het
N4bp1 T C 8: 86,853,239 E645G probably damaging Het
Nckap5 T C 1: 125,915,015 K1752E probably damaging Het
Nek1 A G 8: 61,054,736 probably null Het
Ntng1 T C 3: 110,143,886 probably benign Het
Nup133 A G 8: 123,917,437 V730A probably benign Het
Olfr314 T A 11: 58,786,237 M1K probably null Het
Olfr620 T A 7: 103,612,179 H58L probably damaging Het
Paqr6 C T 3: 88,367,898 P213S probably damaging Het
Pign A T 1: 105,585,077 V627D possibly damaging Het
Rasal1 T A 5: 120,659,620 V139E probably damaging Het
Scgb1b24 G T 7: 33,744,152 A79S possibly damaging Het
Slc25a28 T C 19: 43,664,592 D210G probably benign Het
Slc38a3 A T 9: 107,655,154 I393N possibly damaging Het
Slc41a2 T C 10: 83,254,926 N465D probably damaging Het
Slc5a5 G A 8: 70,891,178 T160I probably damaging Het
Smarca2 C T 19: 26,630,892 A117V probably damaging Het
Sorcs2 C T 5: 36,062,587 R371H probably damaging Het
Taf4 A G 2: 179,923,987 S872P probably damaging Het
Tdrd3 G T 14: 87,506,254 C540F probably benign Het
Top1 A T 2: 160,698,141 Y213F probably benign Het
Txndc5 T C 13: 38,528,184 probably null Het
Unc79 C A 12: 103,142,732 A2005D possibly damaging Het
Upb1 T C 10: 75,438,171 L344P probably damaging Het
Vmn1r72 T A 7: 11,669,652 S290C probably benign Het
Vmn2r103 A G 17: 19,793,604 I219M possibly damaging Het
Wapl A G 14: 34,729,195 T729A probably damaging Het
Washc5 C T 15: 59,355,934 R393H probably damaging Het
Other mutations in Thumpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Thumpd1 APN 7 119717009 missense possibly damaging 0.95
IGL01151:Thumpd1 APN 7 119718195 missense probably damaging 0.97
IGL01327:Thumpd1 APN 7 119720702 missense probably benign 0.12
IGL02140:Thumpd1 APN 7 119717009 missense possibly damaging 0.95
IGL02945:Thumpd1 APN 7 119716747 missense possibly damaging 0.48
F6893:Thumpd1 UTSW 7 119720576 nonsense probably null
R4153:Thumpd1 UTSW 7 119720593 missense probably damaging 1.00
R4934:Thumpd1 UTSW 7 119716779 missense probably benign 0.00
R5475:Thumpd1 UTSW 7 119720720 missense probably benign
R5631:Thumpd1 UTSW 7 119720602 missense probably damaging 1.00
R6123:Thumpd1 UTSW 7 119717009 missense probably damaging 1.00
R6351:Thumpd1 UTSW 7 119720605 missense possibly damaging 0.94
R7565:Thumpd1 UTSW 7 119716862 nonsense probably null
R8139:Thumpd1 UTSW 7 119720585 missense possibly damaging 0.82
R8951:Thumpd1 UTSW 7 119718248 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CACTGTACTGGCGCTTTGAAG -3'
(R):5'- TGTCACTTTATGCGAGGACTGG -3'

Sequencing Primer
(F):5'- TTTGAAGCAACTGCCGCC -3'
(R):5'- GAGGACTGGGCGGCACC -3'
Posted On 2018-03-15