Incidental Mutation 'IGL02176:Ddhd1'
ID 283094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddhd1
Ensembl Gene ENSMUSG00000037697
Gene Name DDHD domain containing 1
Synonyms 4921528E07Rik, 9630061G18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02176
Quality Score
Status
Chromosome 14
Chromosomal Location 45830628-45895600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45854057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 426 (H426Q)
Ref Sequence ENSEMBL: ENSMUSP00000107459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051310] [ENSMUST00000087320] [ENSMUST00000111828] [ENSMUST00000149286] [ENSMUST00000226301]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000051310
AA Change: H426Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050088
Gene: ENSMUSG00000037697
AA Change: H426Q

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 95 111 N/A INTRINSIC
low complexity region 118 141 N/A INTRINSIC
low complexity region 183 201 N/A INTRINSIC
low complexity region 206 217 N/A INTRINSIC
low complexity region 284 297 N/A INTRINSIC
Blast:DDHD 450 573 6e-67 BLAST
DDHD 595 842 1.49e-100 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000087320
AA Change: H460Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084577
Gene: ENSMUSG00000037697
AA Change: H460Q

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 95 111 N/A INTRINSIC
low complexity region 118 141 N/A INTRINSIC
low complexity region 183 201 N/A INTRINSIC
low complexity region 206 217 N/A INTRINSIC
low complexity region 284 297 N/A INTRINSIC
Blast:DDHD 484 607 1e-66 BLAST
DDHD 629 904 3.75e-106 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111828
AA Change: H426Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107459
Gene: ENSMUSG00000037697
AA Change: H426Q

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 95 111 N/A INTRINSIC
low complexity region 118 141 N/A INTRINSIC
low complexity region 183 201 N/A INTRINSIC
low complexity region 206 217 N/A INTRINSIC
low complexity region 284 297 N/A INTRINSIC
Blast:DDHD 450 573 8e-67 BLAST
DDHD 595 870 3.75e-106 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129599
Predicted Effect unknown
Transcript: ENSMUST00000141487
AA Change: H86Q
SMART Domains Protein: ENSMUSP00000133358
Gene: ENSMUSG00000037697
AA Change: H86Q

DomainStartEndE-ValueType
Blast:DDHD 111 149 1e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152110
Predicted Effect probably benign
Transcript: ENSMUST00000149286
SMART Domains Protein: ENSMUSP00000118848
Gene: ENSMUSG00000037697

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 95 111 N/A INTRINSIC
low complexity region 118 141 N/A INTRINSIC
low complexity region 183 201 N/A INTRINSIC
low complexity region 206 217 N/A INTRINSIC
low complexity region 284 297 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227258
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 is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele show reduced testis weight, oligozoospermia, teratozoospermia, and male subfertility. Sperm defects include a disorganized mitochondrial structure, an abnormal gap between the middle and principal pieces, and hairpin flagellum leading to impaired sperm motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 G T 10: 20,846,815 (GRCm39) R415L probably benign Het
Ankle1 C A 8: 71,858,903 (GRCm39) H45Q probably damaging Het
Anks1b A T 10: 89,878,530 (GRCm39) H113L probably damaging Het
Arhgap33 T A 7: 30,223,476 (GRCm39) H851L possibly damaging Het
Atp12a C T 14: 56,624,636 (GRCm39) S972L probably damaging Het
Atrip T C 9: 108,896,114 (GRCm39) D301G probably benign Het
Bckdk A G 7: 127,505,545 (GRCm39) T223A probably benign Het
C3 C A 17: 57,533,337 (GRCm39) probably benign Het
C8g A G 2: 25,389,122 (GRCm39) S154P probably damaging Het
Casz1 A G 4: 149,019,076 (GRCm39) D459G probably damaging Het
Cdca7 A G 2: 72,314,988 (GRCm39) T293A probably damaging Het
Cmya5 T A 13: 93,226,658 (GRCm39) D2810V probably damaging Het
CN725425 G A 15: 91,130,024 (GRCm39) V296I probably benign Het
Col17a1 A G 19: 47,639,658 (GRCm39) M1077T probably benign Het
Dpp6 C T 5: 27,928,575 (GRCm39) T799M probably damaging Het
Efs C T 14: 55,158,499 (GRCm39) G53D probably damaging Het
Fer1l4 A G 2: 155,890,371 (GRCm39) V221A probably benign Het
Gabre G A X: 71,318,259 (GRCm39) Q17* probably null Het
Gpld1 T C 13: 25,168,192 (GRCm39) probably null Het
Gpr107 T A 2: 31,058,858 (GRCm39) V116D probably benign Het
Huwe1 T C X: 150,686,964 (GRCm39) S2283P possibly damaging Het
Ksr1 A G 11: 78,911,617 (GRCm39) S722P probably benign Het
Lmbrd2 A G 15: 9,182,661 (GRCm39) E532G probably damaging Het
Lrfn1 T C 7: 28,158,111 (GRCm39) probably benign Het
Lrrc4c A G 2: 97,460,598 (GRCm39) D408G probably damaging Het
Mbp A G 18: 82,572,670 (GRCm39) E122G probably damaging Het
Myo9a T A 9: 59,777,836 (GRCm39) D1197E probably benign Het
Ncor1 A T 11: 62,220,485 (GRCm39) probably benign Het
Or2y17 A G 11: 49,232,133 (GRCm39) Y258C probably benign Het
Pdcd1lg2 A G 19: 29,414,732 (GRCm39) E53G probably benign Het
Phex G T X: 156,051,489 (GRCm39) A469E probably damaging Het
Pigo A G 4: 43,019,352 (GRCm39) S957P probably benign Het
Ppargc1b T A 18: 61,443,946 (GRCm39) R406* probably null Het
Ppargc1b C A 18: 61,443,945 (GRCm39) R422I probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Thnsl1 G T 2: 21,216,665 (GRCm39) A140S possibly damaging Het
Tm9sf3 A G 19: 41,235,076 (GRCm39) probably benign Het
Tma7 T A 9: 108,911,153 (GRCm39) probably benign Het
Tmtc2 T G 10: 105,184,354 (GRCm39) S514R probably benign Het
Unc79 G A 12: 102,965,006 (GRCm39) probably null Het
Wdr89 A T 12: 75,679,897 (GRCm39) I119N probably damaging Het
Wiz C A 17: 32,575,876 (GRCm39) R843S probably damaging Het
Zfp275 T A X: 72,396,889 (GRCm39) S12T probably damaging Het
Other mutations in Ddhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Ddhd1 APN 14 45,854,008 (GRCm39) missense probably damaging 1.00
IGL01635:Ddhd1 APN 14 45,867,037 (GRCm39) missense probably null 0.98
IGL02698:Ddhd1 APN 14 45,842,663 (GRCm39) unclassified probably benign
IGL03052:Ddhd1 UTSW 14 45,858,240 (GRCm39) missense probably damaging 1.00
PIT4434001:Ddhd1 UTSW 14 45,848,062 (GRCm39) missense possibly damaging 0.62
R0037:Ddhd1 UTSW 14 45,847,967 (GRCm39) missense probably damaging 1.00
R0105:Ddhd1 UTSW 14 45,848,147 (GRCm39) missense probably benign 0.37
R0165:Ddhd1 UTSW 14 45,833,049 (GRCm39) missense probably damaging 1.00
R1237:Ddhd1 UTSW 14 45,839,107 (GRCm39) missense probably benign 0.01
R1401:Ddhd1 UTSW 14 45,842,508 (GRCm39) critical splice donor site probably null
R1574:Ddhd1 UTSW 14 45,833,004 (GRCm39) missense probably damaging 1.00
R1574:Ddhd1 UTSW 14 45,833,004 (GRCm39) missense probably damaging 1.00
R1582:Ddhd1 UTSW 14 45,842,566 (GRCm39) missense probably damaging 0.98
R2070:Ddhd1 UTSW 14 45,848,081 (GRCm39) missense probably damaging 1.00
R2307:Ddhd1 UTSW 14 45,846,447 (GRCm39) missense probably damaging 1.00
R2417:Ddhd1 UTSW 14 45,894,729 (GRCm39) missense probably damaging 1.00
R3756:Ddhd1 UTSW 14 45,894,720 (GRCm39) missense probably damaging 1.00
R3756:Ddhd1 UTSW 14 45,848,030 (GRCm39) missense probably benign 0.00
R4541:Ddhd1 UTSW 14 45,860,313 (GRCm39) nonsense probably null
R4737:Ddhd1 UTSW 14 45,866,278 (GRCm39) intron probably benign
R5105:Ddhd1 UTSW 14 45,894,864 (GRCm39) missense probably benign 0.00
R5810:Ddhd1 UTSW 14 45,840,164 (GRCm39) missense probably damaging 1.00
R5898:Ddhd1 UTSW 14 45,840,125 (GRCm39) missense probably damaging 1.00
R6217:Ddhd1 UTSW 14 45,856,971 (GRCm39) splice site probably null
R6218:Ddhd1 UTSW 14 45,851,633 (GRCm39) missense probably damaging 1.00
R6671:Ddhd1 UTSW 14 45,894,689 (GRCm39) frame shift probably null
R6787:Ddhd1 UTSW 14 45,894,976 (GRCm39) missense probably benign 0.01
R7049:Ddhd1 UTSW 14 45,840,138 (GRCm39) missense probably damaging 1.00
R7150:Ddhd1 UTSW 14 45,895,263 (GRCm39) missense probably damaging 1.00
R7213:Ddhd1 UTSW 14 45,895,210 (GRCm39) missense probably benign 0.41
R7261:Ddhd1 UTSW 14 45,894,688 (GRCm39) missense probably damaging 1.00
R7522:Ddhd1 UTSW 14 45,895,104 (GRCm39) missense possibly damaging 0.47
R7920:Ddhd1 UTSW 14 45,894,927 (GRCm39) missense probably damaging 0.96
R8736:Ddhd1 UTSW 14 45,836,642 (GRCm39) missense probably benign 0.30
R8880:Ddhd1 UTSW 14 45,846,430 (GRCm39) missense probably benign
R9140:Ddhd1 UTSW 14 45,894,918 (GRCm39) missense probably benign 0.12
R9393:Ddhd1 UTSW 14 45,894,685 (GRCm39) missense probably damaging 1.00
R9398:Ddhd1 UTSW 14 45,895,117 (GRCm39) missense possibly damaging 0.60
R9399:Ddhd1 UTSW 14 45,895,117 (GRCm39) missense possibly damaging 0.60
R9502:Ddhd1 UTSW 14 45,894,679 (GRCm39) missense possibly damaging 0.75
R9687:Ddhd1 UTSW 14 45,848,190 (GRCm39) missense probably damaging 0.97
Z1177:Ddhd1 UTSW 14 45,895,051 (GRCm39) missense possibly damaging 0.63
Posted On 2015-04-16