Incidental Mutation 'R7240:Dpf1'
ID 563142
Institutional Source Beutler Lab
Gene Symbol Dpf1
Ensembl Gene ENSMUSG00000030584
Gene Name double PHD fingers 1
Synonyms neuro-d4, Neud4
MMRRC Submission 045347-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7240 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 29003366-29017017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29011052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 150 (F150L)
Ref Sequence ENSEMBL: ENSMUSP00000054385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049977] [ENSMUST00000065181] [ENSMUST00000108230] [ENSMUST00000108231]
AlphaFold Q9QX66
Predicted Effect probably benign
Transcript: ENSMUST00000049977
AA Change: F150L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000054385
Gene: ENSMUSG00000030584
AA Change: F150L

DomainStartEndE-ValueType
Pfam:Requiem_N 12 85 1.6e-39 PFAM
ZnF_C2H2 196 219 2.4e-3 SMART
PHD 274 327 8.98e-7 SMART
RING 275 326 1.06e1 SMART
PHD 328 374 2.6e-12 SMART
RING 329 373 8.53e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065181
AA Change: F149L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000070539
Gene: ENSMUSG00000030584
AA Change: F149L

DomainStartEndE-ValueType
Pfam:Requiem_N 11 84 2e-39 PFAM
ZnF_C2H2 195 218 2.4e-3 SMART
PHD 273 326 8.98e-7 SMART
RING 274 325 1.06e1 SMART
PHD 327 373 2.6e-12 SMART
RING 328 372 8.53e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108230
AA Change: F149L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103865
Gene: ENSMUSG00000030584
AA Change: F149L

DomainStartEndE-ValueType
Pfam:Requiem_N 11 84 9.7e-40 PFAM
PHD 229 282 8.98e-7 SMART
RING 230 281 1.06e1 SMART
PHD 283 339 6.85e-12 SMART
RING 284 338 9.5e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108231
AA Change: F150L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000103866
Gene: ENSMUSG00000030584
AA Change: F150L

DomainStartEndE-ValueType
Pfam:Requiem_N 13 84 1.2e-39 PFAM
ZnF_C2H2 196 219 2.4e-3 SMART
PHD 274 327 8.98e-7 SMART
RING 275 326 1.06e1 SMART
PHD 328 384 6.85e-12 SMART
RING 329 383 9.5e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137848
SMART Domains Protein: ENSMUSP00000120956
Gene: ENSMUSG00000030584

DomainStartEndE-ValueType
Pfam:Requiem_N 1 40 8.9e-20 PFAM
ZnF_C2H2 122 143 5.34e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142958
SMART Domains Protein: ENSMUSP00000117186
Gene: ENSMUSG00000030584

DomainStartEndE-ValueType
ZnF_C2H2 21 44 2.4e-3 SMART
PHD 82 135 8.98e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210017I01Rik A G 3: 92,512,382 (GRCm39) I59T unknown Het
Aspm C T 1: 139,406,389 (GRCm39) Q1759* probably null Het
Atn1 A T 6: 124,724,861 (GRCm39) I124K unknown Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ccdc88c C T 12: 100,911,198 (GRCm39) V879M probably benign Het
Cd300c A G 11: 114,850,609 (GRCm39) C65R possibly damaging Het
Cd69 A T 6: 129,247,005 (GRCm39) S112T possibly damaging Het
Cdh19 T C 1: 110,821,137 (GRCm39) T534A probably benign Het
Cdk5rap2 T A 4: 70,210,145 (GRCm39) D701V probably damaging Het
D130052B06Rik A G 11: 33,573,874 (GRCm39) H157R possibly damaging Het
Dsg1c T C 18: 20,416,166 (GRCm39) L689P probably damaging Het
Dstyk G A 1: 132,381,861 (GRCm39) M538I probably benign Het
E4f1 T A 17: 24,663,299 (GRCm39) I669F probably damaging Het
Gm7138 T C 10: 77,612,589 (GRCm39) T64A unknown Het
Gnai2 A C 9: 107,492,972 (GRCm39) D310E Het
Iqca1 A G 1: 89,998,272 (GRCm39) V567A possibly damaging Het
Iqgap1 A T 7: 80,409,587 (GRCm39) N249K probably benign Het
Lamc1 A G 1: 153,110,396 (GRCm39) V1093A possibly damaging Het
Mfap3 A G 11: 57,420,582 (GRCm39) K188E probably damaging Het
N4bp2 T A 5: 65,951,888 (GRCm39) V431D probably damaging Het
Notch4 A G 17: 34,795,445 (GRCm39) T792A probably benign Het
Ntn4 A G 10: 93,581,603 (GRCm39) H592R probably damaging Het
Ofcc1 A G 13: 40,362,317 (GRCm39) C202R probably benign Het
Or10j2 T C 1: 173,098,561 (GRCm39) I273T probably benign Het
Or2a7 A G 6: 43,151,435 (GRCm39) K172E probably benign Het
Or5p55 T C 7: 107,567,395 (GRCm39) S264P probably benign Het
Or5p72 A G 7: 108,022,140 (GRCm39) M121V probably damaging Het
Or8b55 A G 9: 38,727,009 (GRCm39) D70G probably benign Het
Or8g24 A T 9: 38,989,906 (GRCm39) M45K probably damaging Het
Parpbp G A 10: 87,960,802 (GRCm39) T228I probably damaging Het
Pcdhgb8 G A 18: 37,896,756 (GRCm39) V609M probably damaging Het
Pla2g4d T C 2: 120,100,830 (GRCm39) N543S probably damaging Het
Puf60 A G 15: 75,944,388 (GRCm39) probably benign Het
Rbm6 A T 9: 107,730,095 (GRCm39) D184E probably damaging Het
Rnase9 A C 14: 51,276,436 (GRCm39) S181A probably benign Het
Rnpc3 T A 3: 113,410,480 (GRCm39) R270S probably damaging Het
Rundc1 T C 11: 101,322,374 (GRCm39) probably null Het
Ryr1 T C 7: 28,751,440 (GRCm39) S3715G possibly damaging Het
Scn3a A T 2: 65,299,386 (GRCm39) D1373E possibly damaging Het
Serpina3k T G 12: 104,306,861 (GRCm39) I31S probably benign Het
Sipa1l2 A G 8: 126,196,599 (GRCm39) F712L probably damaging Het
Slc22a29 A G 19: 8,138,875 (GRCm39) V529A probably damaging Het
Tdrd3 A G 14: 87,696,239 (GRCm39) N58S probably benign Het
Tmc2 C T 2: 130,076,724 (GRCm39) T350I possibly damaging Het
Tpst2 T C 5: 112,455,544 (GRCm39) C28R probably benign Het
Trbv21 A T 6: 41,179,892 (GRCm39) K69N probably benign Het
Trpm2 A G 10: 77,771,710 (GRCm39) probably null Het
Ttn A G 2: 76,679,334 (GRCm39) V10796A unknown Het
Ush2a A G 1: 188,643,858 (GRCm39) T4407A possibly damaging Het
Vmn2r95 A G 17: 18,672,225 (GRCm39) H726R probably benign Het
Zfp777 A G 6: 48,021,383 (GRCm39) S80P probably benign Het
Other mutations in Dpf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Dpf1 APN 7 29,015,981 (GRCm39) unclassified probably benign
IGL00736:Dpf1 APN 7 29,012,333 (GRCm39) nonsense probably null
IGL01804:Dpf1 APN 7 29,015,926 (GRCm39) missense probably damaging 1.00
IGL01942:Dpf1 APN 7 29,015,927 (GRCm39) missense probably damaging 1.00
IGL01953:Dpf1 APN 7 29,013,732 (GRCm39) missense probably damaging 1.00
IGL03191:Dpf1 APN 7 29,015,986 (GRCm39) unclassified probably benign
R3622:Dpf1 UTSW 7 29,015,631 (GRCm39) splice site probably null
R3924:Dpf1 UTSW 7 29,011,098 (GRCm39) missense possibly damaging 0.76
R4234:Dpf1 UTSW 7 29,015,057 (GRCm39) missense probably damaging 1.00
R4606:Dpf1 UTSW 7 29,016,015 (GRCm39) unclassified probably benign
R5379:Dpf1 UTSW 7 29,003,533 (GRCm39) missense probably benign 0.02
R5434:Dpf1 UTSW 7 29,010,756 (GRCm39) missense possibly damaging 0.92
R6185:Dpf1 UTSW 7 29,010,696 (GRCm39) missense possibly damaging 0.92
R6672:Dpf1 UTSW 7 29,015,693 (GRCm39) missense probably damaging 1.00
R6816:Dpf1 UTSW 7 29,011,087 (GRCm39) missense possibly damaging 0.61
R7699:Dpf1 UTSW 7 29,011,032 (GRCm39) missense possibly damaging 0.69
R7796:Dpf1 UTSW 7 29,011,106 (GRCm39) missense possibly damaging 0.69
R8071:Dpf1 UTSW 7 29,013,566 (GRCm39) missense probably benign 0.08
R8929:Dpf1 UTSW 7 29,009,174 (GRCm39) missense probably benign 0.39
R9619:Dpf1 UTSW 7 29,012,618 (GRCm39) missense probably benign 0.11
R9643:Dpf1 UTSW 7 29,013,742 (GRCm39) missense probably damaging 0.96
R9668:Dpf1 UTSW 7 29,009,084 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCCTTCCTGCTCTGAGATG -3'
(R):5'- ACAGTTCTGATCCACAAGCTCC -3'

Sequencing Primer
(F):5'- TGCTCTGAGATGCCCGG -3'
(R):5'- GATCCACAAGCTCCATTTTCG -3'
Posted On 2019-06-26