Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Ddhd2'

554625

Institutional Source

Beutler Lab

Gene Symbol

Ddhd2

Ensembl Gene

ENSMUSG00000061313

Gene Name

DDHD domain containing 2

Synonyms

SAMWD1, 2010305K11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

PIT4362001 (G1)

Quality Score

223.009

Status

Not validated

Chromosome

Chromosomal Location

26215351-26244502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26225779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 526 (Y526C)

Ref Sequence

ENSEMBL: ENSMUSP00000033975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033975] [ENSMUST00000211009] [ENSMUST00000211688]

AlphaFold

Q80Y98

Predicted Effect

probably damaging
Transcript: ENSMUST00000033975
AA Change: Y526C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313
AA Change: Y526C

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

probably benign
Transcript: ENSMUST00000211009

Predicted Effect

probably benign
Transcript: ENSMUST00000211688

Coding Region Coverage

1x: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,283,398 (GRCm39)	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,129,100 (GRCm39)	V165A	probably damaging	Het
Aox1	A	T	1: 58,321,839 (GRCm39)	T44S	probably damaging	Het
Arhgap29	T	A	3: 121,796,861 (GRCm39)	N482K	probably benign	Het
Arhgef38	T	A	3: 132,866,591 (GRCm39)	D182V		Het
Atad5	C	T	11: 80,002,393 (GRCm39)	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,742,453 (GRCm39)	S147P	possibly damaging	Het
Cblb	T	A	16: 51,959,905 (GRCm39)	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,514,818 (GRCm39)	N97S	probably benign	Het
Cdh23	A	G	10: 60,301,237 (GRCm39)	V479A	probably benign	Het
Chuk	A	G	19: 44,087,022 (GRCm39)		probably null	Het
Cmtr2	G	A	8: 110,948,968 (GRCm39)	G426D	probably damaging	Het
Cog4	G	A	8: 111,593,304 (GRCm39)	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472 (GRCm39)	L193*	probably null	Het
Cxcr6	A	T	9: 123,639,526 (GRCm39)	I183F	probably benign	Het
Dbf4	A	G	5: 8,453,664 (GRCm39)	F253L	probably benign	Het
Dcaf8	T	C	1: 172,000,364 (GRCm39)	V174A	probably damaging	Het
Dnal4	A	G	15: 79,647,766 (GRCm39)	V33A	probably benign	Het
Egfl7	C	T	2: 26,481,052 (GRCm39)	P188L	probably benign	Het
Ephb3	A	G	16: 21,039,607 (GRCm39)	E707G	probably damaging	Het
Epn3	C	T	11: 94,387,349 (GRCm39)	R7H	probably damaging	Het
Fbp1	T	A	13: 63,015,194 (GRCm39)	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,896,088 (GRCm39)	R177*	probably null	Het
Gask1b	C	A	3: 79,794,246 (GRCm39)	S238Y	possibly damaging	Het
Gbp5	T	C	3: 142,206,471 (GRCm39)	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,685,277 (GRCm39)	S282T	probably benign	Het
Glg1	A	T	8: 111,985,431 (GRCm39)	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,423,949 (GRCm39)	L736F	probably benign	Het
Gm5565	A	T	5: 146,095,109 (GRCm39)	S212R	probably benign	Het
Grin2c	T	C	11: 115,140,459 (GRCm39)	T1220A	probably benign	Het
Grp	T	G	18: 66,019,297 (GRCm39)	S133A	probably benign	Het
Gstp2	C	A	19: 4,090,713 (GRCm39)	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,768,392 (GRCm39)	F84L	probably damaging	Het
Inppl1	T	C	7: 101,475,220 (GRCm39)	R944G	probably benign	Het
Lama2	A	T	10: 27,245,132 (GRCm39)	N216K	probably damaging	Het
Lrp2	T	A	2: 69,367,882 (GRCm39)	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,791,608 (GRCm39)	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 102,907,055 (GRCm39)	I1555T	probably benign	Het
Map2	G	A	1: 66,451,677 (GRCm39)	G189D	probably benign	Het
Mdc1	A	G	17: 36,155,361 (GRCm39)	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,844,542 (GRCm39)	D152G	possibly damaging	Het
Med23	A	G	10: 24,750,469 (GRCm39)	M99V	probably benign	Het
Mutyh	G	A	4: 116,674,267 (GRCm39)	V273M	probably damaging	Het
Neurod2	T	A	11: 98,218,708 (GRCm39)	Y152F	probably damaging	Het
Or5d3	C	T	2: 88,174,357 (GRCm39)	A247T	probably benign	Het
Or5g25	A	C	2: 85,478,068 (GRCm39)	L199R	probably damaging	Het
Or8c20	G	T	9: 38,260,494 (GRCm39)	L32F	probably benign	Het
Pcdh20	G	C	14: 88,704,462 (GRCm39)	P946R	probably damaging	Het
Pde6b	T	C	5: 108,571,451 (GRCm39)		probably null	Het
Pdzrn4	A	T	15: 92,667,762 (GRCm39)	D638V	possibly damaging	Het
Polr1b	A	G	2: 128,951,212 (GRCm39)	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,251,143 (GRCm39)	D127V	probably damaging	Het
Rspo4	T	A	2: 151,709,803 (GRCm39)	C69*	probably null	Het
Scara3	T	C	14: 66,173,851 (GRCm39)	T63A	probably benign	Het
Scn2a	G	A	2: 65,514,182 (GRCm39)	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,295,786 (GRCm39)	T163A	probably benign	Het
Slc2a10	T	A	2: 165,358,213 (GRCm39)	F446Y	probably damaging	Het
Snapc1	C	T	12: 74,029,269 (GRCm39)	R351C	probably damaging	Het
Snx6	A	G	12: 54,814,815 (GRCm39)	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,697,299 (GRCm39)	C1996*	probably null	Het
Steap4	A	G	5: 8,030,337 (GRCm39)	T398A	probably benign	Het
Tep1	A	T	14: 51,103,510 (GRCm39)	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,463 (GRCm39)	V70D	possibly damaging	Het
Ttn	G	A	2: 76,569,362 (GRCm39)	A27177V	probably damaging	Het
Ube3a	T	C	7: 58,925,870 (GRCm39)	V237A	possibly damaging	Het
Vil1	G	A	1: 74,460,542 (GRCm39)	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,433,088 (GRCm39)	T716A	probably benign	Het
Zbp1	A	G	2: 173,058,783 (GRCm39)	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524 (GRCm39)	V1845A	probably benign	Het
Zfp407	A	T	18: 84,579,393 (GRCm39)	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,767,735 (GRCm39)	T626A	probably benign	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
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
R5529:Ddhd2	UTSW	8	26,229,587 (GRCm39)	missense	probably benign	0.00
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'- TCATCCCTAATAAGACAGAGTGAAG -3'
(R):5'- ATGAGGACTGGTTATTTTCCTCC -3'

Sequencing Primer
(F):5'- CTGCTTGGCAAGATACAGGTC -3'
(R):5'- TCCTTCCAGGTGTCTGTAAAATAC -3'

Posted On

2019-06-07