Incidental Mutation 'R0165:Ddhd1'
ID 24124
Institutional Source Beutler Lab
Gene Symbol Ddhd1
Ensembl Gene ENSMUSG00000037697
Gene Name DDHD domain containing 1
Synonyms 4921528E07Rik, 9630061G18Rik
MMRRC Submission 038441-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0165 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 45830628-45895600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45833049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 849 (T849M)
Ref Sequence ENSEMBL: ENSMUSP00000107459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051310] [ENSMUST00000087320] [ENSMUST00000111828] [ENSMUST00000149286]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000051310
AA Change: T821M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050088
Gene: ENSMUSG00000037697
AA Change: T821M

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: T883M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084577
Gene: ENSMUSG00000037697
AA Change: T883M

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: T849M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107459
Gene: ENSMUSG00000037697
AA Change: T849M

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: ENSMUST00000122972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129599
Predicted Effect probably benign
Transcript: ENSMUST00000141487
SMART Domains Protein: ENSMUSP00000133358
Gene: ENSMUSG00000037697

DomainStartEndE-ValueType
Blast:DDHD 111 149 1e-17 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000156758
AA Change: T146M
SMART Domains Protein: ENSMUSP00000121837
Gene: ENSMUSG00000037697
AA Change: T146M

DomainStartEndE-ValueType
DDHD 1 168 3.8e-11 SMART
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 noncoding transcript
Transcript: ENSMUST00000226558
Meta Mutation Damage Score 0.8648 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.2%
  • 20x: 91.4%
Validation Efficiency 96% (81/84)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,213,924 (GRCm39) I717T possibly damaging Het
6430571L13Rik A G 9: 107,223,383 (GRCm39) probably benign Het
Abca15 T A 7: 119,950,126 (GRCm39) probably benign Het
Abca6 A G 11: 110,110,430 (GRCm39) V573A possibly damaging Het
Adgrl2 A G 3: 148,558,499 (GRCm39) probably benign Het
Agap3 A G 5: 24,684,743 (GRCm39) T544A probably damaging Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Akr1c20 T C 13: 4,573,295 (GRCm39) T7A probably benign Het
Ankrd26 A G 6: 118,517,445 (GRCm39) S459P probably benign Het
Armh4 A G 14: 50,011,243 (GRCm39) S155P probably benign Het
Ascc3 T A 10: 50,718,223 (GRCm39) probably null Het
Brd1 T C 15: 88,613,980 (GRCm39) N305S probably damaging Het
Catip T A 1: 74,407,628 (GRCm39) L320Q possibly damaging Het
Cplane1 G A 15: 8,245,866 (GRCm39) V1413M probably damaging Het
Cttnbp2 G A 6: 18,435,409 (GRCm39) Q150* probably null Het
Cyp2d22 T G 15: 82,257,481 (GRCm39) N228T probably benign Het
Dapk1 T C 13: 60,909,407 (GRCm39) V1340A probably benign Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dnah6 A G 6: 72,998,306 (GRCm39) S3987P probably benign Het
Dst C A 1: 34,193,727 (GRCm39) probably benign Het
Epha2 T C 4: 141,049,203 (GRCm39) probably null Het
Ern2 T C 7: 121,779,002 (GRCm39) T281A probably benign Het
Extl1 A G 4: 134,085,014 (GRCm39) F652S probably damaging Het
Gckr A G 5: 31,484,292 (GRCm39) S541G possibly damaging Het
Gdap1l1 A G 2: 163,293,419 (GRCm39) probably null Het
Gm7535 T C 17: 18,131,437 (GRCm39) probably benign Het
Gmps T A 3: 63,901,375 (GRCm39) I398N probably damaging Het
Igf2r A G 17: 12,917,414 (GRCm39) V1556A probably benign Het
Il3ra T A 14: 14,350,967 (GRCm38) N283K probably benign Het
Ist1 A G 8: 110,401,998 (GRCm39) probably benign Het
Lama3 A T 18: 12,657,867 (GRCm39) I1934F probably damaging Het
Lars1 A T 18: 42,335,762 (GRCm39) M1118K possibly damaging Het
Lpin2 C T 17: 71,553,514 (GRCm39) S846L probably damaging Het
Lrrc4b C A 7: 44,111,739 (GRCm39) T537K probably damaging Het
Ltn1 G A 16: 87,202,407 (GRCm39) probably benign Het
Meiob A G 17: 25,054,135 (GRCm39) T401A probably benign Het
Mettl21e G A 1: 44,250,283 (GRCm39) T41M probably damaging Het
Miga1 C T 3: 151,996,480 (GRCm39) E323K probably damaging Het
Ndufs1 A T 1: 63,198,907 (GRCm39) probably null Het
Or5p62 T C 7: 107,771,882 (GRCm39) D23G probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Parp6 T C 9: 59,540,208 (GRCm39) Y274H probably damaging Het
Prom2 A T 2: 127,381,434 (GRCm39) probably benign Het
Prune2 T A 19: 17,099,974 (GRCm39) M1826K probably benign Het
Qki T A 17: 10,457,892 (GRCm39) D159V probably damaging Het
Rab12 A T 17: 66,807,312 (GRCm39) I139N probably damaging Het
Rab25 T A 3: 88,455,362 (GRCm39) E7D probably benign Het
Rala A T 13: 18,063,174 (GRCm39) V139E probably benign Het
Ralgapa2 A G 2: 146,230,407 (GRCm39) probably benign Het
Rbl2 T A 8: 91,800,804 (GRCm39) Y89N probably damaging Het
Rho A T 6: 115,909,188 (GRCm39) I75F probably damaging Het
Slc38a4 C A 15: 96,906,830 (GRCm39) A303S probably benign Het
Slc6a15 A G 10: 103,245,670 (GRCm39) D551G probably null Het
Smyd3 T C 1: 178,871,437 (GRCm39) N314S probably benign Het
Speer4f1 T A 5: 17,684,512 (GRCm39) L180* probably null Het
Stat6 T C 10: 127,493,096 (GRCm39) V576A probably damaging Het
Strn T C 17: 78,984,803 (GRCm39) D127G possibly damaging Het
Syne1 T C 10: 4,983,096 (GRCm39) R8610G probably benign Het
Tbc1d7 A C 13: 43,306,678 (GRCm39) probably null Het
Tcf3 C T 10: 80,248,831 (GRCm39) R548Q probably damaging Het
Tlr9 C A 9: 106,103,286 (GRCm39) A859D probably benign Het
Tmem106c T A 15: 97,866,020 (GRCm39) probably benign Het
Tmprss11c A T 5: 86,379,786 (GRCm39) probably benign Het
Tnfsf18 A G 1: 161,322,300 (GRCm39) R7G probably benign Het
Tnrc6b T A 15: 80,742,871 (GRCm39) probably null Het
Trpm7 A T 2: 126,639,433 (GRCm39) F1684I probably damaging Het
Ttbk1 C A 17: 46,789,864 (GRCm39) R133L possibly damaging Het
Ttn A G 2: 76,551,686 (GRCm39) S22962P probably damaging Het
Ube2q1 T A 3: 89,683,460 (GRCm39) L135Q probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vwce T C 19: 10,637,337 (GRCm39) probably benign Het
Wdhd1 A G 14: 47,504,525 (GRCm39) S350P probably benign Het
Zbtb21 A G 16: 97,752,604 (GRCm39) S560P 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
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
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
Predicted Primers PCR Primer
(F):5'- GGACACGGAAGCCTTCACAGAATC -3'
(R):5'- ATGTGGCAGCCTAAGTCACTTCCC -3'

Sequencing Primer
(F):5'- AACTGGAACCTTGAAGTCTCTGC -3'
(R):5'- AAGTCACTTCCCTTGGCTAGAC -3'
Posted On 2013-04-16