Mutagenetix > Incidental Mutation

Incidental Mutation 'R5044:Ddhd2'

394261

Institutional Source

Beutler Lab

Gene Symbol

Ddhd2

Ensembl Gene

ENSMUSG00000061313

Gene Name

DDHD domain containing 2

Synonyms

SAMWD1, 2010305K11Rik

MMRRC Submission

042634-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R5044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26215351-26244502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26242164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 237 (Y237C)

Ref Sequence

ENSEMBL: ENSMUSP00000147859 (fasta)

Gene Model

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

AlphaFold

Q80Y98

Predicted Effect

probably damaging
Transcript: ENSMUST00000033975
AA Change: Y125C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313
AA Change: Y125C

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

unknown
Transcript: ENSMUST00000210888
AA Change: Y107C

Predicted Effect

probably damaging
Transcript: ENSMUST00000211009
AA Change: Y125C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211688
AA Change: Y237C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211751

Meta Mutation Damage Score

0.4355

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (73/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,323 (GRCm39)	F3387I	possibly damaging	Het
Acacb	T	A	5: 114,304,088 (GRCm39)	S170R	probably benign	Het
Adamtsl4	A	G	3: 95,588,960 (GRCm39)		probably null	Het
Adgrv1	A	G	13: 81,637,050 (GRCm39)	C3464R	probably benign	Het
Apbb1	A	T	7: 105,214,889 (GRCm39)		probably benign	Het
Cad	A	G	5: 31,212,365 (GRCm39)	T23A	probably benign	Het
Cdca7	A	G	2: 72,313,759 (GRCm39)	R183G	probably benign	Het
Cdpf1	T	C	15: 85,693,513 (GRCm39)	T5A	probably benign	Het
Cep85	T	C	4: 133,883,490 (GRCm39)	D133G	probably damaging	Het
Chrna9	T	C	5: 66,128,359 (GRCm39)	L189P	probably damaging	Het
Clca3a1	A	C	3: 144,713,689 (GRCm39)		probably null	Het
Cntn1	G	T	15: 92,140,876 (GRCm39)	V201F	probably damaging	Het
Col4a3	A	G	1: 82,644,267 (GRCm39)	E352G	unknown	Het
Dnah6	A	C	6: 73,014,605 (GRCm39)	F3609V	probably benign	Het
Epha3	T	C	16: 63,422,650 (GRCm39)	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,334,560 (GRCm39)	N878S	probably benign	Het
Fbn1	T	G	2: 125,171,022 (GRCm39)	T1938P	probably damaging	Het
Foxg1	T	C	12: 49,431,969 (GRCm39)	V234A	probably damaging	Het
Garin5b	T	C	7: 4,761,660 (GRCm39)	N351D	probably benign	Het
Glt1d1	A	T	5: 127,721,478 (GRCm39)	N55I	probably benign	Het
Gm17641	C	A	3: 68,776,807 (GRCm39)		probably benign	Het
Gm7665	A	G	18: 16,407,788 (GRCm39)		noncoding transcript	Het
Hgf	A	C	5: 16,819,892 (GRCm39)	N541T	probably benign	Het
Hipk2	G	A	6: 38,795,814 (GRCm39)	P152S	probably benign	Het
Jarid2	C	T	13: 45,060,041 (GRCm39)	L720F	probably damaging	Het
Kifc5b	A	G	17: 27,143,761 (GRCm39)	E511G	probably damaging	Het
Ldlr	G	A	9: 21,646,538 (GRCm39)	A235T	probably benign	Het
Lmln	A	G	16: 32,894,550 (GRCm39)	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,403,364 (GRCm39)	C2070R	probably damaging	Het
Mbl1	A	G	14: 40,880,681 (GRCm39)	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,299,934 (GRCm39)	S355T	probably benign	Het
Muc19	C	T	15: 91,772,332 (GRCm39)		noncoding transcript	Het
Mycbp2	A	C	14: 103,376,671 (GRCm39)		probably null	Het
Naa20	T	C	2: 145,757,762 (GRCm39)	S164P	probably damaging	Het
Nme4	A	T	17: 26,312,807 (GRCm39)		probably benign	Het
Npas2	A	T	1: 39,386,587 (GRCm39)	R619*	probably null	Het
Nudt19	G	A	7: 35,255,171 (GRCm39)	T20I	possibly damaging	Het
Or4c119	T	A	2: 88,987,283 (GRCm39)	K79*	probably null	Het
Or5b97	A	G	19: 12,878,365 (GRCm39)	Y260H	probably damaging	Het
Pitpnc1	A	G	11: 107,187,054 (GRCm39)	Y90H	possibly damaging	Het
Rcor2	A	G	19: 7,247,150 (GRCm39)	T6A	probably benign	Het
Rif1	T	A	2: 51,999,940 (GRCm39)	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,127,972 (GRCm39)	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,702,846 (GRCm39)	N242I	probably damaging	Het
Sbno2	G	A	10: 79,898,022 (GRCm39)	L719F	probably benign	Het
Scn11a	G	T	9: 119,648,897 (GRCm39)	D55E	probably damaging	Het
Setd1b	T	A	5: 123,289,929 (GRCm39)	I632N	unknown	Het
Spaca6	A	G	17: 18,051,458 (GRCm39)	T45A	probably benign	Het
Srpk2	A	T	5: 23,729,390 (GRCm39)	D416E	possibly damaging	Het
Sspo	A	T	6: 48,443,889 (GRCm39)		probably null	Het
Sycp1	A	T	3: 102,752,370 (GRCm39)	I804N	probably benign	Het
Tdp2	G	A	13: 25,015,809 (GRCm39)	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,284,795 (GRCm39)	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,258,326 (GRCm39)	P439S	probably benign	Het
Tnxb	A	T	17: 34,936,457 (GRCm39)	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,173,933 (GRCm39)	T142A	probably benign	Het
Ttn	T	C	2: 76,710,785 (GRCm39)		probably benign	Het
Tubgcp4	T	C	2: 121,004,061 (GRCm39)	L34P	probably damaging	Het
Tubgcp6	G	T	15: 88,983,748 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,078,962 (GRCm39)	V1690E	probably benign	Het
Vps4b	T	C	1: 106,724,148 (GRCm39)		probably null	Het
Wtap	A	G	17: 13,186,525 (GRCm39)	S341P	possibly damaging	Het
Wwc1	T	C	11: 35,774,172 (GRCm39)	T363A	probably benign	Het
Zbtb8a	G	A	4: 129,254,293 (GRCm39)	T67M	probably damaging	Het
Zfp865	T	C	7: 5,037,668 (GRCm39)		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
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
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'- TTGAAACTAGCCTGCAGAGAG -3'
(R):5'- GGACTGTAACTTACAAGTGTATTTGGG -3'

Sequencing Primer
(F):5'- ACTAGCCTGCAGAGAGAAATTAC -3'
(R):5'- AGAGTTGTTGTGACATAGTGGAC -3'

Posted On

2016-06-15