Incidental Mutation 'IGL01901:Ddhd2'
ID179528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddhd2
Ensembl Gene ENSMUSG00000061313
Gene NameDDHD domain containing 2
Synonyms2010305K11Rik, SAMWD1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.348) question?
Stock #IGL01901
Quality Score
Status
Chromosome8
Chromosomal Location25725346-25754596 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25748594 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 53 (V53A)
Ref Sequence ENSEMBL: ENSMUSP00000147702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033975] [ENSMUST00000211009] [ENSMUST00000211688] [ENSMUST00000211751]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033975
AA Change: V219A

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313
AA Change: V219A

DomainStartEndE-ValueType
low complexity region 12 25 N/A INTRINSIC
Pfam:WWE 40 112 7.5e-9 PFAM
Blast:DDHD 285 357 6e-28 BLAST
SAM 382 447 1.13e-11 SMART
DDHD 484 688 6.63e-75 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210843
Predicted Effect probably benign
Transcript: ENSMUST00000210888
Predicted Effect possibly damaging
Transcript: ENSMUST00000211009
AA Change: V219A

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211688
AA Change: V331A

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000211751
AA Change: V53A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a null mutation display impaired balance and coordination, impaired spatial learning and memory and triglyceride accumulation in neurons in the brain and spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A G 1: 26,682,584 F1172L probably benign Het
Adam2 A G 14: 66,035,229 probably benign Het
Aldh1a7 T G 19: 20,717,739 Y154S probably damaging Het
BC117090 C A 16: 36,334,263 A11S probably damaging Het
Casc3 A G 11: 98,823,121 D393G probably damaging Het
Cd180 A G 13: 102,706,428 I661V probably benign Het
Cdh1 T C 8: 106,657,760 S287P probably damaging Het
Clnk T C 5: 38,794,978 N6S probably damaging Het
Cyp17a1 C T 19: 46,671,092 V100M possibly damaging Het
Elovl7 T A 13: 108,274,393 probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14180 A G 11: 99,734,227 S22P unknown Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Golga5 G A 12: 102,479,802 probably null Het
Gpr162 A T 6: 124,861,407 F93L possibly damaging Het
Kcnh8 G A 17: 52,894,120 probably benign Het
Lamp3 A T 16: 19,673,419 F358L probably damaging Het
Mdn1 T G 4: 32,669,591 D409E probably damaging Het
Ms4a10 T C 19: 10,963,010 D211G probably benign Het
Ms4a3 T C 19: 11,639,266 E4G possibly damaging Het
Myo15 A G 11: 60,527,434 probably benign Het
Olfr1257 A G 2: 89,881,482 I219V probably damaging Het
Olfr1448 T C 19: 12,919,583 H242R probably damaging Het
Olfr612 A T 7: 103,538,970 L88Q probably damaging Het
Olfr638 A G 7: 104,004,067 H264R probably damaging Het
Olfr698 A G 7: 106,752,545 V281A possibly damaging Het
Olfr815 A G 10: 129,901,853 F286L probably benign Het
Penk T C 4: 4,134,465 I61V probably benign Het
Pkhd1 T A 1: 20,220,083 K2860N probably benign Het
Prtg C T 9: 72,855,066 P492S probably damaging Het
Tdrd7 T C 4: 45,989,225 probably benign Het
Terf2ip A G 8: 112,012,068 N196S probably benign Het
Tgtp1 T C 11: 48,987,555 N108D possibly damaging Het
Thumpd3 A G 6: 113,059,971 H277R probably benign Het
Tshz2 T A 2: 169,885,536 L215Q possibly damaging Het
Ube3c T A 5: 29,668,007 V1015E probably damaging Het
Utrn T A 10: 12,640,928 K2307N probably damaging Het
Vmn1r75 A G 7: 11,880,812 Y157C probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Ddhd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01501:Ddhd2 APN 8 25735830 missense probably damaging 1.00
IGL01629:Ddhd2 APN 8 25735828 missense possibly damaging 0.91
IGL01656:Ddhd2 APN 8 25727712 missense probably benign 0.34
IGL01723:Ddhd2 APN 8 25735011 nonsense probably null
IGL01820:Ddhd2 APN 8 25749754 missense possibly damaging 0.87
IGL02619:Ddhd2 APN 8 25746954 critical splice acceptor site probably null
R0240:Ddhd2 UTSW 8 25739590 splice site probably null
R0240:Ddhd2 UTSW 8 25739590 splice site probably null
R0408:Ddhd2 UTSW 8 25739587 critical splice acceptor site probably null
R0732:Ddhd2 UTSW 8 25741321 missense probably damaging 1.00
R1483:Ddhd2 UTSW 8 25753128 missense probably benign 0.01
R1597:Ddhd2 UTSW 8 25749741 missense probably benign 0.09
R1881:Ddhd2 UTSW 8 25727700 missense probably damaging 0.99
R1927:Ddhd2 UTSW 8 25741661 missense possibly damaging 0.92
R2044:Ddhd2 UTSW 8 25752165 missense probably damaging 1.00
R4494:Ddhd2 UTSW 8 25738234 missense probably benign 0.01
R4728:Ddhd2 UTSW 8 25752267 missense probably damaging 1.00
R5044:Ddhd2 UTSW 8 25752137 missense probably damaging 1.00
R5138:Ddhd2 UTSW 8 25727699 missense probably damaging 1.00
R5529:Ddhd2 UTSW 8 25739560 missense probably benign 0.00
R5761:Ddhd2 UTSW 8 25741699 missense probably benign 0.19
R5799:Ddhd2 UTSW 8 25748602 missense probably damaging 1.00
R5934:Ddhd2 UTSW 8 25753113 missense probably damaging 1.00
R5965:Ddhd2 UTSW 8 25735777 missense probably damaging 1.00
R5988:Ddhd2 UTSW 8 25748562 missense probably damaging 1.00
R6260:Ddhd2 UTSW 8 25752117 missense probably benign 0.00
R6791:Ddhd2 UTSW 8 25752215 missense probably benign 0.04
Posted On2014-05-07