Mutagenetix > Incidental Mutation

Incidental Mutation 'R7911:Ddhd2'

610513

Institutional Source

Beutler Lab

Gene Symbol

Ddhd2

Ensembl Gene

ENSMUSG00000061313

Gene Name

DDHD domain containing 2

Synonyms

SAMWD1, 2010305K11Rik

MMRRC Submission

045960-MU

Accession Numbers

Essential gene?

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

Stock #

R7911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26215351-26244502 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 26238563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033975] [ENSMUST00000033975] [ENSMUST00000211009] [ENSMUST00000211688] [ENSMUST00000211688] [ENSMUST00000211751] [ENSMUST00000211751]

AlphaFold

Q80Y98

Predicted Effect

probably null
Transcript: ENSMUST00000033975

SMART Domains

Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313

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 null
Transcript: ENSMUST00000033975

SMART Domains

Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313

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: ENSMUST00000210888

Predicted Effect

probably benign
Transcript: ENSMUST00000211009

Predicted Effect

probably null
Transcript: ENSMUST00000211688

Predicted Effect

probably null
Transcript: ENSMUST00000211688

Predicted Effect

probably null
Transcript: ENSMUST00000211751

Predicted Effect

probably null
Transcript: ENSMUST00000211751

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,693,667 (GRCm39)	F95L	probably benign	Het
Abca3	C	G	17: 24,617,478 (GRCm39)	D1058E	probably damaging	Het
Abca7	C	A	10: 79,840,867 (GRCm39)	R919S	probably benign	Het
Abcc2	T	C	19: 43,792,109 (GRCm39)	S297P	probably benign	Het
Abcc8	A	G	7: 45,803,860 (GRCm39)	L438P	probably damaging	Het
Acbd6	C	A	1: 155,562,750 (GRCm39)	D250E	probably damaging	Het
Ankrd31	A	G	13: 97,015,608 (GRCm39)	N1626D	possibly damaging	Het
Arrdc4	C	T	7: 68,394,924 (GRCm39)	E112K	probably benign	Het
B3galnt1	T	A	3: 69,482,574 (GRCm39)	Y229F	probably damaging	Het
Calcrl	A	C	2: 84,181,575 (GRCm39)	I191S	probably damaging	Het
Camkmt	T	A	17: 85,759,866 (GRCm39)		probably null	Het
Card11	A	G	5: 140,867,755 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,668,219 (GRCm39)	L407P	probably damaging	Het
Cfap299	T	A	5: 98,885,567 (GRCm39)	M158K	possibly damaging	Het
Chst15	T	C	7: 131,872,251 (GRCm39)	Q10R	probably benign	Het
Ciao3	A	G	17: 25,999,372 (GRCm39)	E262G	probably benign	Het
Col26a1	A	G	5: 136,771,952 (GRCm39)	L424P	probably damaging	Het
Cryzl2	T	C	1: 157,299,925 (GRCm39)	M308T	probably benign	Het
Ctu2	T	C	8: 123,207,733 (GRCm39)	I403T	probably benign	Het
Dmrt1	T	A	19: 25,580,692 (GRCm39)	L368Q	probably benign	Het
Dnah7b	C	A	1: 46,178,838 (GRCm39)	P837Q	probably damaging	Het
Drg2	T	A	11: 60,355,001 (GRCm39)	L283Q	possibly damaging	Het
Dscam	G	A	16: 96,445,122 (GRCm39)	T1523I	probably benign	Het
Farp1	T	C	14: 121,479,818 (GRCm39)	S370P	probably damaging	Het
Fbxl21	G	A	13: 56,684,976 (GRCm39)	G360D	probably damaging	Het
Fbxo39	T	C	11: 72,208,358 (GRCm39)	S237P	probably damaging	Het
Gart	G	T	16: 91,435,672 (GRCm39)	F180L	probably benign	Het
Gng4	T	C	13: 13,999,857 (GRCm39)	L42P	possibly damaging	Het
Heatr9	T	A	11: 83,403,234 (GRCm39)	D435V	probably damaging	Het
Hsh2d	A	G	8: 72,950,648 (GRCm39)	E45G	probably damaging	Het
Ighv1-74	A	G	12: 115,766,410 (GRCm39)	I70T	probably damaging	Het
Igkv1-133	T	A	6: 67,701,924 (GRCm39)	F9L	probably benign	Het
Ipo5	A	G	14: 121,167,051 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,067,774 (GRCm39)	V1578A	probably damaging	Het
Kcnj5	T	C	9: 32,233,517 (GRCm39)	D266G	probably damaging	Het
Klk1b9	A	T	7: 43,629,211 (GRCm39)	K206N	probably damaging	Het
Macir	T	A	1: 97,573,615 (GRCm39)	H150L	probably damaging	Het
Madd	C	T	2: 90,997,853 (GRCm39)	G725D	probably null	Het
Mki67	A	T	7: 135,306,333 (GRCm39)	H576Q	probably damaging	Het
Mprip	T	A	11: 59,651,681 (GRCm39)	I36N		Het
Mycbp2	T	G	14: 103,437,621 (GRCm39)	E2113D	probably damaging	Het
Noa1	T	C	5: 77,457,677 (GRCm39)	Y76C	probably damaging	Het
Noct	A	G	3: 51,155,069 (GRCm39)		probably benign	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Pcdhga6	C	T	18: 37,842,479 (GRCm39)	S733L	not run	Het
Pdlim7	T	C	13: 55,646,919 (GRCm39)	E389G	probably damaging	Het
Ppip5k1	A	G	2: 121,173,139 (GRCm39)	Y480H	possibly damaging	Het
Prc1	T	A	7: 79,954,120 (GRCm39)	D93E	probably benign	Het
Prdm15	A	G	16: 97,613,792 (GRCm39)	M459T	probably benign	Het
Ptpn13	G	A	5: 103,688,924 (GRCm39)	A906T	probably damaging	Het
Ptpn21	T	C	12: 98,655,101 (GRCm39)	E622G	probably damaging	Het
Pum1	T	C	4: 130,501,788 (GRCm39)	V1104A	probably benign	Het
Scn2a	G	A	2: 65,512,427 (GRCm39)	R188Q	probably null	Het
Sh3pxd2b	G	A	11: 32,321,533 (GRCm39)	V31I	probably damaging	Het
Skor1	T	C	9: 63,052,328 (GRCm39)	E547G	possibly damaging	Het
Slk	C	T	19: 47,603,668 (GRCm39)	T183I		Het
Sorcs1	C	A	19: 50,132,470 (GRCm39)	D1163Y	unknown	Het
Tex14	G	A	11: 87,424,428 (GRCm39)		probably null	Het
Them5	A	G	3: 94,253,496 (GRCm39)	T169A	possibly damaging	Het
Tlcd4	A	T	3: 121,022,041 (GRCm39)	I119K	probably damaging	Het
Trav5-4	T	C	14: 53,941,908 (GRCm39)	F94L	probably benign	Het
Trpc6	G	C	9: 8,656,705 (GRCm39)	G789R	probably benign	Het
Ttn	A	T	2: 76,537,095 (GRCm39)	C34944*	probably null	Het
Usp53	T	C	3: 122,754,916 (GRCm39)	M180V	probably benign	Het
Vwa3b	T	C	1: 37,193,107 (GRCm39)	S8P	probably damaging	Het
Wdr90	A	T	17: 26,069,723 (GRCm39)	M1205K	probably benign	Het
Zcwpw1	A	T	5: 137,795,032 (GRCm39)	E76V	probably null	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
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
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'- TAAGTCTCTGGAACTTATCAACCCTC -3'
(R):5'- AGTGCGTGAATAGCACCAG -3'

Sequencing Primer
(F):5'- TCAGGTCTAAGGGAAGCTTCACTC -3'
(R):5'- CCCAAACTCGGCCATGG -3'

Posted On

2019-12-20