Incidental Mutation 'R9399:Ddhd1'
ID 711018
Institutional Source Beutler Lab
Gene Symbol Ddhd1
Ensembl Gene ENSMUSG00000037697
Gene Name DDHD domain containing 1
Synonyms 4921528E07Rik, 9630061G18Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9399 (G1)
Quality Score 200.009
Status Not validated
Chromosome 14
Chromosomal Location 45830628-45895600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45895117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 118 (G118R)
Ref Sequence ENSEMBL: ENSMUSP00000084577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051310] [ENSMUST00000087320] [ENSMUST00000111828] [ENSMUST00000149286] [ENSMUST00000226301]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000051310
AA Change: G118R

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000050088
Gene: ENSMUSG00000037697
AA Change: G118R

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 possibly damaging
Transcript: ENSMUST00000087320
AA Change: G118R

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084577
Gene: ENSMUSG00000037697
AA Change: G118R

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 benign
Transcript: ENSMUST00000111828
AA Change: G118R

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107459
Gene: ENSMUSG00000037697
AA Change: G118R

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 possibly damaging
Transcript: ENSMUST00000149286
AA Change: G118R

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118848
Gene: ENSMUSG00000037697
AA Change: G118R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A C 14: 32,384,615 (GRCm39) L450R probably damaging Het
4933427I04Rik T A 4: 123,754,413 (GRCm39) L109* probably null Het
Amotl2 T C 9: 102,606,531 (GRCm39) L576P probably damaging Het
Ankrd11 T C 8: 123,618,179 (GRCm39) N1891S probably benign Het
Arap2 T A 5: 62,763,455 (GRCm39) H1563L possibly damaging Het
Astn2 T C 4: 65,664,588 (GRCm39) T732A possibly damaging Het
Atp2b2 A G 6: 113,780,713 (GRCm39) I312T probably benign Het
Bcl9 C T 3: 97,113,289 (GRCm39) M1055I probably benign Het
Carm1 A G 9: 21,486,791 (GRCm39) N180D possibly damaging Het
Cd180 A T 13: 102,842,021 (GRCm39) T356S probably benign Het
Cdh18 A C 15: 23,173,899 (GRCm39) T38P probably damaging Het
Cdk7 G T 13: 100,840,988 (GRCm39) P308Q probably damaging Het
Chd5 C T 4: 152,468,592 (GRCm39) A1715V probably benign Het
Clptm1 A T 7: 19,367,842 (GRCm39) V590D probably damaging Het
Col18a1 C T 10: 76,916,584 (GRCm39) G364R unknown Het
Fgfr4 C T 13: 55,304,293 (GRCm39) T111M probably damaging Het
Fndc8 A T 11: 82,788,739 (GRCm39) T190S probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,866 (GRCm39) probably benign Het
Glra3 T A 8: 56,542,079 (GRCm39) I274N probably damaging Het
Gpsm2 G A 3: 108,590,090 (GRCm39) R499* probably null Het
Gzme T A 14: 56,355,796 (GRCm39) D172V probably damaging Het
Ift88 T A 14: 57,717,385 (GRCm39) D536E probably benign Het
Itih3 T C 14: 30,643,335 (GRCm39) T151A probably benign Het
Kctd7 T C 5: 130,177,033 (GRCm39) Y95H probably damaging Het
Lipe A T 7: 25,097,227 (GRCm39) C239S probably benign Het
Lpcat3 T C 6: 124,640,283 (GRCm39) S38P probably benign Het
Mical2 C T 7: 111,946,082 (GRCm39) R1015C probably damaging Het
Midn C T 10: 79,992,210 (GRCm39) R421* probably null Het
Mmp17 A T 5: 129,671,686 (GRCm39) K79* probably null Het
Or8b39 A G 9: 37,997,020 (GRCm39) H296R probably benign Het
Or8k16 G C 2: 85,520,395 (GRCm39) L207F probably damaging Het
Pla2r1 A G 2: 60,282,744 (GRCm39) probably null Het
Ppp1r3a A G 6: 14,755,010 (GRCm39) V79A probably damaging Het
Prkd3 G T 17: 79,264,719 (GRCm39) P633H probably damaging Het
Prss40 T A 1: 34,591,794 (GRCm39) S294C probably damaging Het
Raph1 T A 1: 60,565,154 (GRCm39) Q111L probably benign Het
Rufy3 A T 5: 88,797,725 (GRCm39) N634I possibly damaging Het
Sel1l3 A C 5: 53,265,486 (GRCm39) V1102G probably benign Het
Sh2b1 AGCTCAGCC AGCTCAGCCCCGGGGACCCGCTCAGCC 7: 126,066,750 (GRCm39) probably benign Het
Sh2b1 GG GGCACCAGCTCAGCCCCGCG 7: 126,066,762 (GRCm39) probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 GGGACCAGCTCAGCCACG GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG 7: 126,066,744 (GRCm39) probably benign Het
Slc25a23 C A 17: 57,360,930 (GRCm39) G165C probably damaging Het
Spata31e1 T A 13: 49,940,175 (GRCm39) T512S possibly damaging Het
Sytl2 T A 7: 90,041,658 (GRCm39) D585E probably benign Het
Ttc14 A G 3: 33,858,856 (GRCm39) T372A possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r82 T A 10: 79,214,768 (GRCm39) Y250* probably null Het
Vmn2r92 T A 17: 18,389,137 (GRCm39) S484T probably benign 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
IGL02176:Ddhd1 APN 14 45,854,057 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CAGAGAGTCGTAGCCGATG -3'
(R):5'- TTATAAAGTCCGGGCCGAGAG -3'

Sequencing Primer
(F):5'- ATGAAGGGCTTCCAGGTCTTC -3'
(R):5'- ATGAACTACCCGGGCCG -3'
Posted On 2022-04-18