Incidental Mutation 'R5529:Ddhd2'
| ID |
433581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddhd2
|
| Ensembl Gene |
ENSMUSG00000061313 |
| Gene Name |
DDHD domain containing 2 |
| Synonyms |
SAMWD1, 2010305K11Rik |
| MMRRC Submission |
043087-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R5529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
26215351-26244502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26229587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 496
(R496Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033975]
[ENSMUST00000211009]
[ENSMUST00000211688]
|
| AlphaFold |
Q80Y98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033975
AA Change: R384Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313
AA Change: R384Q
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000210777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211009
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211688
AA Change: R496Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,304,040 (GRCm39) |
Y2079C |
probably damaging |
Het |
| Alg2 |
T |
C |
4: 47,472,101 (GRCm39) |
R236G |
probably damaging |
Het |
| Alpl |
T |
A |
4: 137,473,733 (GRCm39) |
N323I |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,976,238 (GRCm39) |
E172G |
probably benign |
Het |
| Atp8a2 |
A |
G |
14: 60,031,314 (GRCm39) |
|
probably null |
Het |
| Cadps |
T |
C |
14: 12,454,285 (GRCm38) |
K1078E |
probably damaging |
Het |
| Ccn5 |
T |
C |
2: 163,667,279 (GRCm39) |
|
probably null |
Het |
| Ces2e |
G |
T |
8: 105,656,543 (GRCm39) |
V258L |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,766,085 (GRCm39) |
F1041S |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,617,932 (GRCm39) |
I114V |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,714,126 (GRCm39) |
R1335S |
probably benign |
Het |
| F12 |
T |
C |
13: 55,569,872 (GRCm39) |
N102S |
probably benign |
Het |
| Fbn1 |
G |
A |
2: 125,215,870 (GRCm39) |
L712F |
probably benign |
Het |
| Fgf1 |
G |
T |
18: 38,991,657 (GRCm39) |
F37L |
probably damaging |
Het |
| Fgf14 |
T |
A |
14: 124,217,867 (GRCm39) |
H212L |
probably damaging |
Het |
| Gm10036 |
A |
T |
18: 15,965,858 (GRCm39) |
Q3L |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,310,126 (GRCm39) |
F789L |
possibly damaging |
Het |
| Hspg2 |
C |
A |
4: 137,279,139 (GRCm39) |
T3074N |
probably damaging |
Het |
| Katnb1 |
C |
T |
8: 95,824,300 (GRCm39) |
R495C |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,515,741 (GRCm39) |
H122Y |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,419,274 (GRCm39) |
S427L |
probably benign |
Het |
| Med9 |
T |
G |
11: 59,851,486 (GRCm39) |
V105G |
probably benign |
Het |
| Ndufa11 |
T |
A |
17: 57,028,059 (GRCm39) |
V43D |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,448,873 (GRCm39) |
C359S |
possibly damaging |
Het |
| Or12k8 |
T |
A |
2: 36,974,921 (GRCm39) |
I280F |
possibly damaging |
Het |
| Or51e1 |
A |
T |
7: 102,358,900 (GRCm39) |
K145* |
probably null |
Het |
| Paxbp1 |
T |
A |
16: 90,827,401 (GRCm39) |
Y478F |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,480,332 (GRCm39) |
E92K |
probably benign |
Het |
| Prom1 |
G |
T |
5: 44,184,110 (GRCm39) |
L449M |
probably damaging |
Het |
| Psg28 |
G |
A |
7: 18,164,373 (GRCm39) |
T113I |
probably benign |
Het |
| Reln |
A |
C |
5: 22,137,713 (GRCm39) |
V2493G |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,416,055 (GRCm39) |
V1686I |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 79,129,867 (GRCm39) |
I122V |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,098,529 (GRCm39) |
Y721H |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,354,749 (GRCm39) |
F223S |
probably damaging |
Het |
| Son |
T |
A |
16: 91,452,354 (GRCm39) |
L367Q |
probably damaging |
Het |
| Spred2 |
G |
T |
11: 19,971,301 (GRCm39) |
D363Y |
probably damaging |
Het |
| Tbc1d8 |
T |
G |
1: 39,411,836 (GRCm39) |
Y1000S |
probably benign |
Het |
| Tdp2 |
A |
T |
13: 25,022,219 (GRCm39) |
K213* |
probably null |
Het |
| Tmem89 |
T |
C |
9: 108,744,545 (GRCm39) |
I146T |
probably damaging |
Het |
| Vhl |
T |
C |
6: 113,606,424 (GRCm39) |
V147A |
probably benign |
Het |
| Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
| Vrk2 |
T |
C |
11: 26,449,036 (GRCm39) |
D186G |
probably damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,710,474 (GRCm39) |
F1222L |
possibly damaging |
Het |
| Zfp266 |
A |
G |
9: 20,418,030 (GRCm39) |
S7P |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,407 (GRCm39) |
I494K |
possibly damaging |
Het |
| Zfp655 |
A |
G |
5: 145,181,546 (GRCm39) |
E468G |
probably damaging |
Het |
|
| Other mutations in Ddhd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01501:Ddhd2
|
APN |
8 |
26,225,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01629:Ddhd2
|
APN |
8 |
26,225,855 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01656:Ddhd2
|
APN |
8 |
26,217,739 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01723:Ddhd2
|
APN |
8 |
26,225,038 (GRCm39) |
nonsense |
probably null |
|
|
IGL01820:Ddhd2
|
APN |
8 |
26,239,781 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01901:Ddhd2
|
APN |
8 |
26,238,621 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02619:Ddhd2
|
APN |
8 |
26,236,981 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4362001:Ddhd2
|
UTSW |
8 |
26,225,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Ddhd2
|
UTSW |
8 |
26,229,617 (GRCm39) |
splice site |
probably null |
|
|
R0240:Ddhd2
|
UTSW |
8 |
26,229,617 (GRCm39) |
splice site |
probably null |
|
|
R0408:Ddhd2
|
UTSW |
8 |
26,229,614 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0732:Ddhd2
|
UTSW |
8 |
26,231,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1483:Ddhd2
|
UTSW |
8 |
26,243,155 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1597:Ddhd2
|
UTSW |
8 |
26,239,768 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1881:Ddhd2
|
UTSW |
8 |
26,217,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1927:Ddhd2
|
UTSW |
8 |
26,231,688 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2044:Ddhd2
|
UTSW |
8 |
26,242,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4494:Ddhd2
|
UTSW |
8 |
26,228,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4728:Ddhd2
|
UTSW |
8 |
26,242,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5044:Ddhd2
|
UTSW |
8 |
26,242,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Ddhd2
|
UTSW |
8 |
26,217,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5761:Ddhd2
|
UTSW |
8 |
26,231,726 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5799:Ddhd2
|
UTSW |
8 |
26,238,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Ddhd2
|
UTSW |
8 |
26,243,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5965:Ddhd2
|
UTSW |
8 |
26,225,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Ddhd2
|
UTSW |
8 |
26,238,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Ddhd2
|
UTSW |
8 |
26,242,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6791:Ddhd2
|
UTSW |
8 |
26,242,242 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7386:Ddhd2
|
UTSW |
8 |
26,244,318 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7470:Ddhd2
|
UTSW |
8 |
26,225,087 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7911:Ddhd2
|
UTSW |
8 |
26,238,563 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8153:Ddhd2
|
UTSW |
8 |
26,240,816 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8385:Ddhd2
|
UTSW |
8 |
26,225,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9190:Ddhd2
|
UTSW |
8 |
26,244,495 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9381:Ddhd2
|
UTSW |
8 |
26,239,849 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9497:Ddhd2
|
UTSW |
8 |
26,217,731 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1176:Ddhd2
|
UTSW |
8 |
26,225,856 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1177:Ddhd2
|
UTSW |
8 |
26,244,413 (GRCm39) |
missense |
unknown |
|
|
Z1177:Ddhd2
|
UTSW |
8 |
26,244,402 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCTCCAAAGGGCACATT -3'
(R):5'- TCTTCATAAGCATTCATTAAGGGCT -3'
Sequencing Primer
(F):5'- TCCAAAGGGCACATTCTTGG -3'
(R):5'- CCTCAGTTACACAGTAAGTTTGAGGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation