Mutagenetix > Incidental Mutation

Incidental Mutation 'R7470:Ddhd2'

579119

Institutional Source

Beutler Lab

Gene Symbol

Ddhd2

Ensembl Gene

ENSMUSG00000061313

Gene Name

DDHD domain containing 2

Synonyms

SAMWD1, 2010305K11Rik

MMRRC Submission

045544-MU

Accession Numbers

Essential gene?

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

Stock #

R7470 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26215351-26244502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26225087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 577 (F577L)

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: F546L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313
AA Change: F546L

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
AA Change: F577L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,898,622 (GRCm39)	V238E	possibly damaging	Het
Actn3	G	A	19: 4,917,842 (GRCm39)	S375L	possibly damaging	Het
Adgrg6	T	C	10: 14,319,810 (GRCm39)	T476A	probably benign	Het
Afm	T	A	5: 90,679,486 (GRCm39)	S327T	probably damaging	Het
Apol7e	T	A	15: 77,602,143 (GRCm39)	M247K	probably benign	Het
Aqp12	T	A	1: 92,936,385 (GRCm39)	L237Q	probably damaging	Het
Arhgef12	A	T	9: 42,951,848 (GRCm39)	S63T	probably damaging	Het
Axdnd1	T	A	1: 156,204,086 (GRCm39)	E393V		Het
Cacna1g	T	A	11: 94,352,765 (GRCm39)	D365V	possibly damaging	Het
Ccdc3	T	A	2: 5,143,115 (GRCm39)	V124E	possibly damaging	Het
Ccr7	C	T	11: 99,036,383 (GRCm39)	V180M	possibly damaging	Het
Cd47	T	A	16: 49,704,585 (GRCm39)	I119K		Het
Cenpe	A	T	3: 134,947,916 (GRCm39)	L1158F	probably damaging	Het
Cfi	A	G	3: 129,648,736 (GRCm39)	R207G	probably benign	Het
Cyp2j6	T	C	4: 96,423,708 (GRCm39)	Y220C	probably benign	Het
Dhx40	T	C	11: 86,667,528 (GRCm39)	E537G	probably damaging	Het
Disp3	A	T	4: 148,345,527 (GRCm39)	C438S	possibly damaging	Het
Dock3	A	G	9: 106,882,644 (GRCm39)	S380P	probably damaging	Het
Ehmt2	A	G	17: 35,118,372 (GRCm39)	E106G	possibly damaging	Het
Fmnl2	A	T	2: 52,932,377 (GRCm39)	I119F	probably damaging	Het
Gm11554	A	C	11: 99,695,190 (GRCm39)	S8A	unknown	Het
Grm7	A	G	6: 111,478,476 (GRCm39)	I54V		Het
Hbs1l	T	C	10: 21,234,683 (GRCm39)	F579L	possibly damaging	Het
Hgf	C	A	5: 16,823,854 (GRCm39)	Q684K	probably benign	Het
Igsf3	T	C	3: 101,358,391 (GRCm39)	Y741H	possibly damaging	Het
Il17rb	C	A	14: 29,719,990 (GRCm39)	G304W	probably damaging	Het
Ino80c	C	T	18: 24,241,895 (GRCm39)	W163*	probably null	Het
Kcnt1	A	C	2: 25,799,845 (GRCm39)	D997A	probably damaging	Het
Klf7	C	T	1: 64,081,472 (GRCm39)		probably null	Het
Lingo1	T	C	9: 56,527,908 (GRCm39)	Y233C	probably damaging	Het
Lmo7	C	A	14: 102,138,040 (GRCm39)	T914K	possibly damaging	Het
Mark1	G	T	1: 184,660,241 (GRCm39)	Y138*	probably null	Het
Mcm3ap	C	A	10: 76,344,231 (GRCm39)	T1791K	probably damaging	Het
Mcts2	T	C	2: 152,529,582 (GRCm39)	I131T	probably benign	Het
Mipep	A	G	14: 61,040,344 (GRCm39)	D288G	probably benign	Het
Ms4a8a	T	A	19: 11,053,714 (GRCm39)	N131Y	possibly damaging	Het
Nalcn	T	C	14: 123,809,456 (GRCm39)	E232G	probably benign	Het
Nat10	C	T	2: 103,565,226 (GRCm39)	A452T	probably benign	Het
Nfatc2	G	A	2: 168,365,227 (GRCm39)	Q596*	probably null	Het
Nudt13	G	T	14: 20,359,791 (GRCm39)	G173W	probably damaging	Het
Or10n1	C	A	9: 39,524,998 (GRCm39)	T45K	probably benign	Het
Or1e16	T	A	11: 73,286,714 (GRCm39)	I45F	probably damaging	Het
Or5l14	A	T	2: 87,792,793 (GRCm39)	C148S	possibly damaging	Het
Or8b4	T	A	9: 37,830,592 (GRCm39)	I213N	probably damaging	Het
Otud4	T	C	8: 80,399,989 (GRCm39)	V901A	probably benign	Het
Pah	G	A	10: 87,399,286 (GRCm39)	R155Q	probably damaging	Het
Pkd1l3	A	G	8: 110,365,008 (GRCm39)	H1130R	probably benign	Het
Pnliprp1	A	G	19: 58,720,457 (GRCm39)	N111S	possibly damaging	Het
Ppp1r21	T	C	17: 88,869,649 (GRCm39)	Y401H	probably damaging	Het
Prr14	A	G	7: 127,074,997 (GRCm39)	K466R	probably null	Het
Ralgapa2	A	G	2: 146,266,587 (GRCm39)	L663P	probably damaging	Het
Reg3d	A	T	6: 78,353,071 (GRCm39)	C171S	possibly damaging	Het
Reln	G	T	5: 22,147,739 (GRCm39)	L2404I	probably damaging	Het
Rnasel	A	C	1: 153,629,777 (GRCm39)	I98L	probably benign	Het
Rnf216	T	C	5: 142,978,480 (GRCm39)	D886G	possibly damaging	Het
Rp1l1	A	G	14: 64,266,015 (GRCm39)	R534G	probably benign	Het
Selenon	A	C	4: 134,267,061 (GRCm39)	S514A	probably benign	Het
Sema3d	T	A	5: 12,558,152 (GRCm39)	I228N	probably damaging	Het
Serpinb9g	T	A	13: 33,670,617 (GRCm39)	I35N	probably damaging	Het
Siglec1	A	C	2: 130,917,744 (GRCm39)	H1044Q	probably benign	Het
Skint5	T	A	4: 113,614,128 (GRCm39)	I693F	unknown	Het
Skint5	G	T	4: 113,743,000 (GRCm39)	L370M	unknown	Het
Slc12a1	G	A	2: 125,059,815 (GRCm39)	W905*	probably null	Het
Slc26a9	G	C	1: 131,691,781 (GRCm39)	V675L	probably benign	Het
Slc5a7	A	T	17: 54,583,990 (GRCm39)	Y433*	probably null	Het
Slc7a4	A	G	16: 17,392,977 (GRCm39)	I274T	probably benign	Het
Slmap	A	G	14: 26,148,575 (GRCm39)	V612A	probably benign	Het
Spen	T	C	4: 141,206,605 (GRCm39)	D674G	unknown	Het
Ssh1	T	C	5: 114,080,488 (GRCm39)	T981A	possibly damaging	Het
Sycp2l	T	C	13: 41,316,580 (GRCm39)	S180P	probably benign	Het
Tdrd7	C	A	4: 45,990,144 (GRCm39)	S181R	probably benign	Het
Thada	T	C	17: 84,533,469 (GRCm39)	N1661D	probably benign	Het
Tsga13	C	A	6: 30,876,981 (GRCm39)	D179Y	possibly damaging	Het
Ttf2	T	G	3: 100,870,478 (GRCm39)	Q198H	possibly damaging	Het
Ugt2b37	T	G	5: 87,401,971 (GRCm39)	Y220S	probably benign	Het
Unc79	C	T	12: 103,061,235 (GRCm39)	T1145I	probably damaging	Het
Unc80	T	A	1: 66,661,621 (GRCm39)	M1682K	probably benign	Het
Vcp	A	G	4: 42,982,891 (GRCm39)	S652P	probably damaging	Het
Vmn2r-ps158	T	A	7: 42,697,310 (GRCm39)	M789K	probably damaging	Het
Wrnip1	T	A	13: 33,000,310 (GRCm39)	L439*	probably null	Het
Zfhx2	A	G	14: 55,304,207 (GRCm39)	I1259T	possibly damaging	Het
Zfp369	A	T	13: 65,439,960 (GRCm39)	T215S	probably benign	Het
Zfp64	A	T	2: 168,767,731 (GRCm39)	V627E	probably damaging	Het
Zfp873	T	C	10: 81,895,773 (GRCm39)	I168T	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
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
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'- GCCCTCTCTCAGTTCTGAAAC -3'
(R):5'- CCAGTAAGCATTGAATAGCTGCTA -3'

Sequencing Primer
(F):5'- TCTCTCAGTTCTGAAACGTGAG -3'
(R):5'- AAGCACTGTATTGCCTGAGC -3'

Posted On

2019-10-07