Mutagenetix > Incidental Mutations

Incidental Mutation 'R5934:Ddhd2'

462104

Institutional Source

Beutler Lab

Gene Symbol

Ddhd2

Ensembl Gene

ENSMUSG00000061313

Gene Name

DDHD domain containing 2

Synonyms

2010305K11Rik, SAMWD1

MMRRC Submission

044128-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R5934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25725346-25754596 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25753113 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 19 (S19P)

Ref Sequence

ENSEMBL: ENSMUSP00000033975 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000033975
AA Change: S19P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313
AA Change: S19P

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

noncoding transcript
Transcript: ENSMUST00000167899

SMART Domains

Protein: ENSMUSP00000130277
Gene: ENSMUSG00000091514

Domain	Start	End	E-Value	Type
low complexity region	86	99	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209419

Predicted Effect

probably benign
Transcript: ENSMUST00000210888
AA Change: S21P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211009
AA Change: S19P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211688
AA Change: S131P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000211751

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,930,806	V596A	probably benign	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Afg1l	G	A	10: 42,318,686	T370M	probably damaging	Het
Aldh2	T	C	5: 121,579,615	T118A	probably benign	Het
Apcdd1	C	T	18: 62,951,869	A379V	possibly damaging	Het
Atp1a3	T	C	7: 24,978,874		probably benign	Het
Cd96	G	T	16: 46,117,903	D66E	probably benign	Het
Cdh5	T	A	8: 104,138,268	V506E	probably benign	Het
Cep70	T	C	9: 99,254,265	I7T	probably benign	Het
Ckb	A	T	12: 111,670,229	V237D	probably damaging	Het
Col6a6	C	T	9: 105,767,075	D1306N	probably damaging	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
D1Ertd622e	A	T	1: 97,645,930	C137S	possibly damaging	Het
Dnah17	G	T	11: 118,041,102	D3681E	probably benign	Het
Dopey1	T	A	9: 86,542,442	Y2068*	probably null	Het
Fam26e	A	G	10: 34,092,202	V285A	possibly damaging	Het
Fryl	T	C	5: 73,090,717	Y1019C	probably damaging	Het
Fsip2	G	A	2: 82,986,748	C4275Y	possibly damaging	Het
Gapdh	A	G	6: 125,162,701	V202A	probably damaging	Het
Gm8394	T	C	10: 85,314,281		noncoding transcript	Het
Gmeb2	T	C	2: 181,255,574	I250M	possibly damaging	Het
Gpr88	C	T	3: 116,252,309	G118R	probably damaging	Het
Hdhd3	C	A	4: 62,499,370	V190L	possibly damaging	Het
Heg1	C	T	16: 33,726,919	T461M	probably damaging	Het
Hspg2	A	G	4: 137,518,772	Y989C	probably damaging	Het
Ift74	A	T	4: 94,632,734	M175L	probably benign	Het
Kcnh3	G	A	15: 99,226,533	R101Q	possibly damaging	Het
Kif20b	G	T	19: 34,941,321	V702F	probably benign	Het
Klhl1	A	G	14: 96,123,215		probably null	Het
Lrrk2	T	C	15: 91,734,046	V916A	probably benign	Het
Mpp4	A	T	1: 59,121,376	D589E	probably damaging	Het
Msl2	T	C	9: 101,101,818	C464R	probably damaging	Het
Mucl2	A	T	15: 103,897,566	S42T	probably benign	Het
Musk	T	A	4: 58,373,613	L838Q	probably damaging	Het
Nos1	A	G	5: 117,936,445	H1052R	probably damaging	Het
Olfr1151	T	C	2: 87,857,241	V22A	probably benign	Het
Olfr1420	A	G	19: 11,896,929	R303G	probably benign	Het
Olfr352	T	A	2: 36,870,268	I234N	probably benign	Het
Olfr463	T	C	11: 87,893,223	R234G	possibly damaging	Het
Olfr52	T	A	2: 86,182,102	Q3L	probably benign	Het
Olfr521	A	T	7: 99,767,389	I76F	probably damaging	Het
Olfr672	C	A	7: 104,996,178	C242F	probably damaging	Het
Olfr683	G	A	7: 105,143,660	S211F	probably benign	Het
Olfr960	C	T	9: 39,623,183	T20I	probably damaging	Het
Pard3	T	G	8: 127,389,338	L636R	probably damaging	Het
Pigr	A	T	1: 130,844,527	S161C	probably damaging	Het
Polr1e	T	C	4: 45,029,369	S325P	probably damaging	Het
Prrc2a	A	T	17: 35,150,084	V1992E	probably damaging	Het
Ptpdc1	T	C	13: 48,586,369	K468E	probably benign	Het
Rab22a	A	G	2: 173,661,504	T37A	probably damaging	Het
Rai14	T	A	15: 10,575,159	K571I	probably damaging	Het
Reck	G	A	4: 43,930,979	G660D	probably damaging	Het
Rgs4	T	C	1: 169,745,238	D43G	possibly damaging	Het
Ryr2	A	T	13: 11,584,154	D4645E	probably damaging	Het
Sf3b3	A	G	8: 110,823,470	S639P	probably damaging	Het
Slc27a4	G	T	2: 29,811,660	R430L	probably damaging	Het
Slfn1	T	A	11: 83,121,944	Y295*	probably null	Het
Slfn5	C	T	11: 82,956,592	S101L	probably damaging	Het
Sult1d1	CCATG	CCATGGCATG	5: 87,559,770		probably null	Het
Tchh	A	T	3: 93,444,112	Q286H	unknown	Het
Tmem184c	A	T	8: 77,604,723	Y172*	probably null	Het
Tsc22d1	T	G	14: 76,418,826	M833R	possibly damaging	Het
Ugt1a7c	G	T	1: 88,095,879	L253F	probably damaging	Het
Usp19	C	T	9: 108,492,567		probably benign	Het
Xirp2	T	A	2: 67,524,804	I3303K	possibly damaging	Het
Zfp574	G	A	7: 25,080,332	A260T	probably benign	Het
Zswim6	A	G	13: 107,744,107		noncoding transcript	Het

Other mutations in Ddhd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01501:Ddhd2	APN	8	25735830	missense	probably damaging	1.00
IGL01629:Ddhd2	APN	8	25735828	missense	possibly damaging	0.91
IGL01656:Ddhd2	APN	8	25727712	missense	probably benign	0.34
IGL01723:Ddhd2	APN	8	25735011	nonsense	probably null
IGL01820:Ddhd2	APN	8	25749754	missense	possibly damaging	0.87
IGL01901:Ddhd2	APN	8	25748594	missense	probably damaging	0.96
IGL02619:Ddhd2	APN	8	25746954	critical splice acceptor site	probably null
PIT4362001:Ddhd2	UTSW	8	25735752	missense	probably damaging	1.00
R0240:Ddhd2	UTSW	8	25739590	splice site	probably null
R0240:Ddhd2	UTSW	8	25739590	splice site	probably null
R0408:Ddhd2	UTSW	8	25739587	critical splice acceptor site	probably null
R0732:Ddhd2	UTSW	8	25741321	missense	probably damaging	1.00
R1483:Ddhd2	UTSW	8	25753128	missense	probably benign	0.01
R1597:Ddhd2	UTSW	8	25749741	missense	probably benign	0.09
R1881:Ddhd2	UTSW	8	25727700	missense	probably damaging	0.99
R1927:Ddhd2	UTSW	8	25741661	missense	possibly damaging	0.92
R2044:Ddhd2	UTSW	8	25752165	missense	probably damaging	1.00
R4494:Ddhd2	UTSW	8	25738234	missense	probably benign	0.01
R4728:Ddhd2	UTSW	8	25752267	missense	probably damaging	1.00
R5044:Ddhd2	UTSW	8	25752137	missense	probably damaging	1.00
R5138:Ddhd2	UTSW	8	25727699	missense	probably damaging	1.00
R5529:Ddhd2	UTSW	8	25739560	missense	probably benign	0.00
R5761:Ddhd2	UTSW	8	25741699	missense	probably benign	0.19
R5799:Ddhd2	UTSW	8	25748602	missense	probably damaging	1.00
R5965:Ddhd2	UTSW	8	25735777	missense	probably damaging	1.00
R5988:Ddhd2	UTSW	8	25748562	missense	probably damaging	1.00
R6260:Ddhd2	UTSW	8	25752117	missense	probably benign	0.00
R6791:Ddhd2	UTSW	8	25752215	missense	probably benign	0.04
R7386:Ddhd2	UTSW	8	25754290	missense	possibly damaging	0.53
R7470:Ddhd2	UTSW	8	25735060	missense	probably benign	0.06
R7911:Ddhd2	UTSW	8	25748536	critical splice donor site	probably null
R8153:Ddhd2	UTSW	8	25750789	missense	probably benign	0.16
R8385:Ddhd2	UTSW	8	25735014	missense	probably damaging	0.99
Z1176:Ddhd2	UTSW	8	25735829	missense	possibly damaging	0.61
Z1177:Ddhd2	UTSW	8	25754374	missense	probably benign
Z1177:Ddhd2	UTSW	8	25754385	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTCATCAGTTTCTTCCTACCAGAG -3'
(R):5'- GTTTCTCTCCCCAAATAATTGTGTG -3'

Sequencing Primer
(F):5'- AGTTTCTTCCTACCAGAGCCATATG -3'
(R):5'- GTTTTCAAGAACAGCTTCC -3'

Posted On

2017-02-28