Incidental Mutation 'R0899:Dthd1'
ID 83787
Institutional Source Beutler Lab
Gene Symbol Dthd1
Ensembl Gene ENSMUSG00000090326
Gene Name death domain containing 1
Synonyms Gm17384
MMRRC Submission 039059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R0899 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 62969017-63045651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63000271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 531 (H531R)
Ref Sequence ENSEMBL: ENSMUSP00000131534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170704]
AlphaFold A0A571BG01
Predicted Effect probably benign
Transcript: ENSMUST00000170704
AA Change: H531R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000131534
Gene: ENSMUSG00000090326
AA Change: H531R

DomainStartEndE-ValueType
Pfam:Death 693 778 4.2e-12 PFAM
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik T C 15: 84,833,459 (GRCm39) K442E probably damaging Het
Adamts1 G A 16: 85,594,940 (GRCm39) R340* probably null Het
Afg3l2 T C 18: 67,556,047 (GRCm39) N428S possibly damaging Het
Aqp12 G A 1: 92,934,332 (GRCm39) D70N probably damaging Het
Astn1 T A 1: 158,338,679 (GRCm39) C475* probably null Het
Atp2b1 G A 10: 98,852,893 (GRCm39) probably null Het
Cbln2 T C 18: 86,734,877 (GRCm39) S217P possibly damaging Het
Ces2h T C 8: 105,741,182 (GRCm39) L58P probably damaging Het
Cfap43 C T 19: 47,736,433 (GRCm39) G1353R possibly damaging Het
Crcp A G 5: 130,088,672 (GRCm39) M91V probably benign Het
Cubn A G 2: 13,367,139 (GRCm39) V1577A possibly damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fam3d A G 14: 8,364,863 (GRCm38) I16T probably damaging Het
Fat2 C T 11: 55,147,051 (GRCm39) G3982S probably damaging Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Fcnb T A 2: 27,966,791 (GRCm39) K247N probably damaging Het
Gtf2a1l A G 17: 88,976,152 (GRCm39) N5S Het
Htr3a T A 9: 48,812,752 (GRCm39) D229V possibly damaging Het
Ipo11 A C 13: 107,037,324 (GRCm39) L173* probably null Het
Jam3 C A 9: 27,010,253 (GRCm39) G244W probably damaging Het
Lypd11 C T 7: 24,422,737 (GRCm39) R112H probably benign Het
Mrpl52 C T 14: 54,664,541 (GRCm39) R12* probably null Het
Myo15a A G 11: 60,368,011 (GRCm39) Y257C possibly damaging Het
Myocd G A 11: 65,086,018 (GRCm39) P215L possibly damaging Het
Ndst1 T C 18: 60,840,954 (GRCm39) T243A probably benign Het
Obox5 A T 7: 15,492,800 (GRCm39) T252S probably benign Het
Or5m13b A G 2: 85,753,731 (GRCm39) T40A probably benign Het
Or6c75 T C 10: 129,337,301 (GRCm39) F183L probably damaging Het
Or7g34 A C 9: 19,477,843 (GRCm39) V276G probably damaging Het
Osbpl1a T C 18: 12,890,747 (GRCm39) S377G possibly damaging Het
Pfkl A G 10: 77,841,273 (GRCm39) probably null Het
Prdm16 A T 4: 154,613,366 (GRCm39) N20K probably damaging Het
Prkd1 A G 12: 50,431,976 (GRCm39) I589T probably damaging Het
Scnn1b G A 7: 121,516,938 (GRCm39) G525S probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Ttn A G 2: 76,718,329 (GRCm39) probably benign Het
Wap T C 11: 6,586,725 (GRCm39) T125A probably benign Het
Wdr86 C T 5: 24,923,005 (GRCm39) R229Q probably benign Het
Other mutations in Dthd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Boatman UTSW 5 62,976,058 (GRCm39) missense probably benign 0.28
Coin UTSW 5 63,000,259 (GRCm39) missense probably damaging 0.98
FR4340:Dthd1 UTSW 5 63,000,369 (GRCm39) small insertion probably benign
FR4342:Dthd1 UTSW 5 63,000,369 (GRCm39) small insertion probably benign
FR4589:Dthd1 UTSW 5 63,000,369 (GRCm39) frame shift probably null
FR4976:Dthd1 UTSW 5 63,000,367 (GRCm39) small insertion probably benign
R0096:Dthd1 UTSW 5 63,000,383 (GRCm39) missense possibly damaging 0.75
R0096:Dthd1 UTSW 5 63,000,383 (GRCm39) missense possibly damaging 0.75
R0395:Dthd1 UTSW 5 62,971,676 (GRCm39) missense possibly damaging 0.71
R0734:Dthd1 UTSW 5 62,996,753 (GRCm39) splice site probably benign
R0970:Dthd1 UTSW 5 63,045,324 (GRCm39) missense probably damaging 1.00
R1104:Dthd1 UTSW 5 62,979,302 (GRCm39) missense probably damaging 1.00
R1518:Dthd1 UTSW 5 62,979,383 (GRCm39) missense probably damaging 1.00
R1831:Dthd1 UTSW 5 62,984,572 (GRCm39) missense probably benign 0.02
R2110:Dthd1 UTSW 5 63,000,222 (GRCm39) missense probably damaging 0.99
R2110:Dthd1 UTSW 5 62,979,251 (GRCm39) missense probably damaging 1.00
R2112:Dthd1 UTSW 5 63,000,222 (GRCm39) missense probably damaging 0.99
R2112:Dthd1 UTSW 5 62,979,251 (GRCm39) missense probably damaging 1.00
R2248:Dthd1 UTSW 5 63,007,243 (GRCm39) missense probably damaging 0.99
R2311:Dthd1 UTSW 5 62,996,580 (GRCm39) splice site probably benign
R2937:Dthd1 UTSW 5 63,000,300 (GRCm39) missense probably benign 0.02
R2938:Dthd1 UTSW 5 63,000,300 (GRCm39) missense probably benign 0.02
R3835:Dthd1 UTSW 5 63,007,128 (GRCm39) missense probably damaging 1.00
R3855:Dthd1 UTSW 5 63,045,366 (GRCm39) missense probably benign 0.00
R3855:Dthd1 UTSW 5 62,984,472 (GRCm39) missense probably benign 0.21
R4049:Dthd1 UTSW 5 62,984,508 (GRCm39) nonsense probably null
R4321:Dthd1 UTSW 5 62,976,033 (GRCm39) missense probably damaging 0.99
R4353:Dthd1 UTSW 5 63,000,210 (GRCm39) missense probably benign 0.04
R4560:Dthd1 UTSW 5 62,984,435 (GRCm39) missense probably damaging 1.00
R4613:Dthd1 UTSW 5 62,984,411 (GRCm39) missense probably damaging 1.00
R4689:Dthd1 UTSW 5 63,000,255 (GRCm39) missense probably damaging 0.99
R4715:Dthd1 UTSW 5 63,045,530 (GRCm39) missense probably benign
R4718:Dthd1 UTSW 5 62,976,136 (GRCm39) missense probably damaging 1.00
R4967:Dthd1 UTSW 5 63,045,549 (GRCm39) missense probably benign 0.01
R5068:Dthd1 UTSW 5 62,976,059 (GRCm39) missense probably benign
R5089:Dthd1 UTSW 5 63,007,248 (GRCm39) missense probably benign
R5355:Dthd1 UTSW 5 62,996,730 (GRCm39) missense probably damaging 1.00
R5470:Dthd1 UTSW 5 62,976,109 (GRCm39) missense probably damaging 1.00
R6284:Dthd1 UTSW 5 62,971,384 (GRCm39) missense possibly damaging 0.71
R6293:Dthd1 UTSW 5 63,000,193 (GRCm39) missense probably damaging 0.99
R6484:Dthd1 UTSW 5 62,971,675 (GRCm39) missense probably benign 0.34
R6516:Dthd1 UTSW 5 62,996,607 (GRCm39) missense probably benign 0.16
R6741:Dthd1 UTSW 5 63,000,289 (GRCm39) missense probably damaging 1.00
R6810:Dthd1 UTSW 5 62,971,672 (GRCm39) missense probably benign 0.01
R7565:Dthd1 UTSW 5 63,000,435 (GRCm39) missense probably damaging 1.00
R7595:Dthd1 UTSW 5 62,976,058 (GRCm39) missense probably benign 0.28
R7947:Dthd1 UTSW 5 62,971,653 (GRCm39) missense possibly damaging 0.90
R8131:Dthd1 UTSW 5 63,000,259 (GRCm39) missense probably damaging 0.98
R8356:Dthd1 UTSW 5 63,007,081 (GRCm39) missense probably damaging 1.00
R8829:Dthd1 UTSW 5 62,971,608 (GRCm39) missense probably benign 0.01
R8832:Dthd1 UTSW 5 62,971,608 (GRCm39) missense probably benign 0.01
R8945:Dthd1 UTSW 5 63,007,096 (GRCm39) missense probably benign 0.02
R9046:Dthd1 UTSW 5 62,984,603 (GRCm39) missense possibly damaging 0.87
R9180:Dthd1 UTSW 5 63,045,410 (GRCm39) missense probably benign 0.02
R9390:Dthd1 UTSW 5 62,975,904 (GRCm39) missense possibly damaging 0.83
R9462:Dthd1 UTSW 5 63,039,626 (GRCm39) missense probably benign 0.01
R9463:Dthd1 UTSW 5 63,039,626 (GRCm39) missense probably benign 0.01
R9464:Dthd1 UTSW 5 63,039,626 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGTGTTTCAATGCTTCATTCCCTGCTA -3'
(R):5'- TGTGCAGAGAAAAGTGCCTAAAAGGATT -3'

Sequencing Primer
(F):5'- GCTACTTTCCCTTTGCACAGG -3'
(R):5'- TGCAACTAAAATGTGTGGCTAAAAG -3'
Posted On 2013-11-08