Incidental Mutation 'R2417:Ddhd1'
| ID |
249043 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
R2417 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
45830628-45895600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45894729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 30
(L30P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154065
(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: L247P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050088
Gene: ENSMUSG00000037697
AA Change: L247P
| Domain | Start | End | E-Value | Type |
|---|
|
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: L247P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084577
Gene: ENSMUSG00000037697
AA Change: L247P
| Domain | Start | End | E-Value | Type |
|---|
|
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: L247P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107459
Gene: ENSMUSG00000037697
AA Change: L247P
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000147551
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149286
AA Change: L247P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118848
Gene: ENSMUSG00000037697
AA Change: L247P
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000153547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175426
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226301
AA Change: L30P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228352
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
T |
A |
17: 41,191,101 (GRCm39) |
K109N |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,258,627 (GRCm39) |
V848A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,741,805 (GRCm39) |
P756S |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,852,234 (GRCm39) |
K319E |
probably damaging |
Het |
| Bbs7 |
C |
T |
3: 36,646,546 (GRCm39) |
A425T |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,939 (GRCm39) |
R879W |
probably damaging |
Het |
| Cfap65 |
GTCTT |
GTCTTCTT |
1: 74,966,345 (GRCm39) |
|
probably benign |
Het |
| Cpsf7 |
T |
C |
19: 10,503,332 (GRCm39) |
|
probably benign |
Het |
| Ctf2 |
A |
G |
7: 127,318,759 (GRCm39) |
V80A |
probably benign |
Het |
| Eml1 |
A |
G |
12: 108,502,534 (GRCm39) |
D700G |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,947,579 (GRCm39) |
P613L |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Itih3 |
G |
A |
14: 30,639,621 (GRCm39) |
T400I |
probably benign |
Het |
| Lrrc14 |
T |
A |
15: 76,597,621 (GRCm39) |
L117Q |
probably damaging |
Het |
| Ncbp1 |
C |
T |
4: 46,168,530 (GRCm39) |
S626L |
probably benign |
Het |
| Nefh |
C |
T |
11: 4,889,479 (GRCm39) |
D1047N |
unknown |
Het |
| Ptprm |
T |
G |
17: 67,251,321 (GRCm39) |
T519P |
probably damaging |
Het |
| Sorl1 |
T |
G |
9: 41,892,007 (GRCm39) |
D1881A |
probably damaging |
Het |
| Sox12 |
T |
C |
2: 152,238,717 (GRCm39) |
D301G |
possibly damaging |
Het |
| Vmn2r14 |
C |
T |
5: 109,372,329 (GRCm39) |
E54K |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,309 (GRCm39) |
N628S |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,668,803 (GRCm39) |
V36M |
possibly damaging |
Het |
| Zfp850 |
A |
T |
7: 27,688,608 (GRCm39) |
N533K |
possibly damaging |
Het |
|
| Other mutations in Ddhd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- ATGGCAGCAGCACTCTACTC -3'
(R):5'- AAGAAGACCTGGAAGCCCTTC -3'
Sequencing Primer
(F):5'- TCTACTCACCCAGGAGGC -3'
(R):5'- TACGACTCTCTGCGCATCGAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation