Mutagenetix > Incidental Mutation

Incidental Mutation 'R5138:Ddhd2'

396287

Institutional Source

Beutler Lab

Gene Symbol

Ddhd2

Ensembl Gene

ENSMUSG00000061313

Gene Name

DDHD domain containing 2

Synonyms

SAMWD1, 2010305K11Rik

MMRRC Submission

042724-MU

Accession Numbers

Essential gene?

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

Stock #

R5138 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26215351-26244502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26217726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 717 (I717N)

Ref Sequence

ENSEMBL: ENSMUSP00000147859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033975] [ENSMUST00000068916] [ENSMUST00000124764] [ENSMUST00000133117] [ENSMUST00000138548] [ENSMUST00000139836] [ENSMUST00000211688] [ENSMUST00000210629] [ENSMUST00000145678]

AlphaFold

Q80Y98

Predicted Effect

probably damaging
Transcript: ENSMUST00000033975
AA Change: I686N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313
AA Change: I686N

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: ENSMUST00000068916

SMART Domains

Protein: ENSMUSP00000067035
Gene: ENSMUSG00000031570

Domain	Start	End	E-Value	Type
acidPPc	85	224	3.08e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124764

Predicted Effect

probably benign
Transcript: ENSMUST00000133117

Predicted Effect

probably benign
Transcript: ENSMUST00000138548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139120

Predicted Effect

probably benign
Transcript: ENSMUST00000139836

SMART Domains

Protein: ENSMUSP00000122437
Gene: ENSMUSG00000031570

Domain	Start	End	E-Value	Type
acidPPc	85	214	3.98e-13	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000210777
AA Change: I70N

Predicted Effect

probably damaging
Transcript: ENSMUST00000211688
AA Change: I717N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209483

Predicted Effect

probably benign
Transcript: ENSMUST00000210629

Predicted Effect

probably benign
Transcript: ENSMUST00000145678

Meta Mutation Damage Score

0.9206

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	A	9: 46,218,119 (GRCm39)		probably null	Het
Actr10	G	A	12: 71,008,653 (GRCm39)	G362E	probably damaging	Het
Aldh1a3	T	C	7: 66,057,600 (GRCm39)	T278A	probably damaging	Het
Arpp21	T	A	9: 112,008,152 (GRCm39)	K116M	probably damaging	Het
Arrdc3	T	C	13: 81,039,184 (GRCm39)	Y72H	probably damaging	Het
Atr	T	C	9: 95,819,649 (GRCm39)	V2212A	probably benign	Het
Bcdin3d	A	G	15: 99,368,932 (GRCm39)	F89S	possibly damaging	Het
Cacna1d	C	A	14: 30,212,929 (GRCm39)	A44S	probably benign	Het
Cbx3	A	G	6: 51,452,269 (GRCm39)	E28G	probably damaging	Het
Cdh23	A	T	10: 60,148,061 (GRCm39)	F2722L	probably damaging	Het
Clec11a	A	G	7: 43,954,062 (GRCm39)	V297A	probably benign	Het
Clk2	C	A	3: 89,082,806 (GRCm39)		probably benign	Het
Clybl	T	A	14: 122,608,716 (GRCm39)	C103S	possibly damaging	Het
Col12a1	T	A	9: 79,551,248 (GRCm39)	N2123Y	probably damaging	Het
Corin	G	A	5: 72,496,402 (GRCm39)	P517L	probably damaging	Het
Derl2	C	A	11: 70,905,390 (GRCm39)	G31*	probably null	Het
Dgcr8	A	G	16: 18,095,941 (GRCm39)	V523A	probably damaging	Het
Dnah8	T	C	17: 30,984,571 (GRCm39)	S3090P	probably damaging	Het
Dsp	C	A	13: 38,367,274 (GRCm39)	H641N	probably benign	Het
Dsp	A	T	13: 38,379,821 (GRCm39)	T1590S	possibly damaging	Het
Duox2	A	T	2: 122,128,012 (GRCm39)	L57Q	probably damaging	Het
Etfdh	A	T	3: 79,530,880 (GRCm39)	V47D	probably benign	Het
Exoc1	T	C	5: 76,715,922 (GRCm39)	Y823H	probably damaging	Het
Fam81a	C	T	9: 70,006,457 (GRCm39)	R185K	probably benign	Het
Fsip2	A	G	2: 82,811,768 (GRCm39)	I2696V	probably benign	Het
Glis1	GCACACA	GCACA	4: 107,480,302 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,246,664 (GRCm39)	N1548K	probably benign	Het
H3c2	G	A	13: 23,936,613 (GRCm39)	R84H	probably damaging	Het
Hkdc1	A	T	10: 62,234,470 (GRCm39)	I575N	probably damaging	Het
Ifi208	A	G	1: 173,518,239 (GRCm39)	I449V	probably null	Het
Ino80	T	C	2: 119,213,902 (GRCm39)	T1223A	probably damaging	Het
Kctd9	T	C	14: 67,966,197 (GRCm39)		probably null	Het
Khdrbs1	A	G	4: 129,635,647 (GRCm39)	Y103H	probably benign	Het
Kmt2e	A	G	5: 23,707,693 (GRCm39)	H1752R	probably damaging	Het
Lrp5	T	A	19: 3,678,319 (GRCm39)	Q512L	probably benign	Het
Map2k5	T	C	9: 63,170,440 (GRCm39)	T293A	probably damaging	Het
Myo7a	C	A	7: 97,732,806 (GRCm39)	R657L	probably damaging	Het
Myrfl	A	G	10: 116,631,963 (GRCm39)		probably null	Het
Nfatc2	G	A	2: 168,378,229 (GRCm39)	H258Y	probably damaging	Het
Nup205	T	A	6: 35,202,801 (GRCm39)	L1336Q	probably damaging	Het
Or10z1	A	G	1: 174,078,395 (GRCm39)	S33P	probably damaging	Het
Or4c113	T	C	2: 88,885,291 (GRCm39)	I160V	probably benign	Het
Or5an10	T	C	19: 12,276,140 (GRCm39)	M119V	possibly damaging	Het
Otog	T	A	7: 45,899,430 (GRCm39)	S244T	possibly damaging	Het
Pcdh17	T	G	14: 84,684,649 (GRCm39)	I372S	probably damaging	Het
Pira13	A	T	7: 3,827,556 (GRCm39)	Y200*	probably null	Het
Plagl1	A	G	10: 13,003,919 (GRCm39)		probably benign	Het
Pnpla7	T	C	2: 24,931,115 (GRCm39)	F910S	possibly damaging	Het
Prdm13	G	A	4: 21,679,507 (GRCm39)	P328S	unknown	Het
Prdm5	C	T	6: 65,833,086 (GRCm39)	Q152*	probably null	Het
Psat1	A	G	19: 15,892,312 (GRCm39)	F216S	possibly damaging	Het
Psg21	A	T	7: 18,390,453 (GRCm39)	M1K	probably null	Het
Rab11fip3	A	T	17: 26,210,000 (GRCm39)	S994T	probably benign	Het
Rax	A	G	18: 66,071,389 (GRCm39)		probably benign	Het
Rgs22	A	T	15: 36,099,934 (GRCm39)	S260R	probably benign	Het
Ryr2	A	T	13: 11,675,175 (GRCm39)	H3317Q	probably damaging	Het
Sc5d	A	G	9: 42,166,811 (GRCm39)	Y243H	probably damaging	Het
Serpinf1	T	C	11: 75,305,854 (GRCm39)	E178G	probably damaging	Het
Slc15a3	A	T	19: 10,833,369 (GRCm39)	Y462F	probably damaging	Het
Slc9b1	G	A	3: 135,063,534 (GRCm39)		probably benign	Het
Slit2	C	T	5: 48,439,309 (GRCm39)	P1111S	probably damaging	Het
Slit3	T	C	11: 35,479,812 (GRCm39)	Y330H	probably damaging	Het
Snw1	T	C	12: 87,507,205 (GRCm39)	K204E	probably benign	Het
Steap1	A	G	5: 5,786,486 (GRCm39)	I317T	probably damaging	Het
Sval2	A	G	6: 41,838,879 (GRCm39)	N20S	probably damaging	Het
Tfrc	C	A	16: 32,434,027 (GRCm39)	Y85*	probably null	Het
Tmem87a	T	C	2: 120,202,026 (GRCm39)	T412A	possibly damaging	Het
Utp20	T	C	10: 88,583,239 (GRCm39)	K2705E	probably damaging	Het
Vmn1r230	A	T	17: 21,067,230 (GRCm39)	K140*	probably null	Het
Vmn2r62	A	T	7: 42,414,240 (GRCm39)	H734Q	possibly damaging	Het
Zbtb8os	T	A	4: 129,240,719 (GRCm39)		probably benign	Het
Zfp608	A	T	18: 55,024,871 (GRCm39)	H1466Q	probably damaging	Het
Zfp957	C	T	14: 79,450,362 (GRCm39)	C479Y	probably damaging	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
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'- GATCCCCAGCACAAGGTAAGATG -3'
(R):5'- AGCAATGGACCTCTAAGGCAC -3'

Sequencing Primer
(F):5'- AGTGGGCTACTGGACACTTC -3'
(R):5'- GGACCTCTAAGGCACATATTTTTAC -3'

Posted On

2016-06-21