Mutagenetix > Incidental Mutation

Incidental Mutation 'R7522:Ddhd1'

582748

Institutional Source

Beutler Lab

Gene Symbol

Ddhd1

Ensembl Gene

ENSMUSG00000037697

Gene Name

DDHD domain containing 1

Synonyms

4921528E07Rik, 9630061G18Rik

MMRRC Submission

045594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7522 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

45830628-45895600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45895104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 122 (A122V)

Ref Sequence

ENSEMBL: ENSMUSP00000084577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051310] [ENSMUST00000087320] [ENSMUST00000111828] [ENSMUST00000149286] [ENSMUST00000226301]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051310
AA Change: A122V

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050088
Gene: ENSMUSG00000037697
AA Change: A122V

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	95	111	N/A	INTRINSIC
low complexity region	118	141	N/A	INTRINSIC
low complexity region	183	201	N/A	INTRINSIC
low complexity region	206	217	N/A	INTRINSIC
low complexity region	284	297	N/A	INTRINSIC
Blast:DDHD	450	573	6e-67	BLAST
DDHD	595	842	1.49e-100	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087320
AA Change: A122V

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084577
Gene: ENSMUSG00000037697
AA Change: A122V

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	95	111	N/A	INTRINSIC
low complexity region	118	141	N/A	INTRINSIC
low complexity region	183	201	N/A	INTRINSIC
low complexity region	206	217	N/A	INTRINSIC
low complexity region	284	297	N/A	INTRINSIC
Blast:DDHD	484	607	1e-66	BLAST
DDHD	629	904	3.75e-106	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111828
AA Change: A122V

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107459
Gene: ENSMUSG00000037697
AA Change: A122V

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	95	111	N/A	INTRINSIC
low complexity region	118	141	N/A	INTRINSIC
low complexity region	183	201	N/A	INTRINSIC
low complexity region	206	217	N/A	INTRINSIC
low complexity region	284	297	N/A	INTRINSIC
Blast:DDHD	450	573	8e-67	BLAST
DDHD	595	870	3.75e-106	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149286
AA Change: A122V

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118848
Gene: ENSMUSG00000037697
AA Change: A122V

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	95	111	N/A	INTRINSIC
low complexity region	118	141	N/A	INTRINSIC
low complexity region	183	201	N/A	INTRINSIC
low complexity region	206	217	N/A	INTRINSIC
low complexity region	284	297	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226301

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele show reduced testis weight, oligozoospermia, teratozoospermia, and male subfertility. Sperm defects include a disorganized mitochondrial structure, an abnormal gap between the middle and principal pieces, and hairpin flagellum leading to impaired sperm motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030014E15Rik	G	T	1: 82,902,949 (GRCm39)	C82F	unknown	Het
Adam21	G	C	12: 81,605,722 (GRCm39)	T680R	possibly damaging	Het
Adgrf4	A	C	17: 42,980,675 (GRCm39)	Y137D	probably benign	Het
Ago3	T	C	4: 126,257,600 (GRCm39)	K477R	probably benign	Het
Ahnak	T	A	19: 8,979,686 (GRCm39)	D323E	probably benign	Het
Amph	A	G	13: 19,270,715 (GRCm39)	D108G	probably damaging	Het
Ankrd10	A	T	8: 11,682,910 (GRCm39)	C106S	probably damaging	Het
Bmp5	A	T	9: 75,683,384 (GRCm39)	T4S	probably benign	Het
Brix1	G	A	15: 10,476,676 (GRCm39)	R267C	probably damaging	Het
Calcrl	G	A	2: 84,203,708 (GRCm39)	S24L	probably benign	Het
Ccdc40	T	G	11: 119,123,047 (GRCm39)	I213R	possibly damaging	Het
Cd300lg	A	G	11: 101,945,028 (GRCm39)	I413V	probably benign	Het
Cdh3	G	A	8: 107,268,005 (GRCm39)	D347N	probably damaging	Het
Clcn3	T	C	8: 61,394,446 (GRCm39)	T55A	probably benign	Het
Cnga4	A	G	7: 105,055,195 (GRCm39)	T260A	probably damaging	Het
Cpne8	G	T	15: 90,486,022 (GRCm39)	P147Q	probably benign	Het
Cpsf6	A	G	10: 117,203,734 (GRCm39)	Y74H	unknown	Het
Cryl1	A	T	14: 57,513,428 (GRCm39)	S264R	probably benign	Het
Cyp39a1	C	T	17: 43,978,370 (GRCm39)		probably benign	Het
Cyp4f39	T	C	17: 32,705,946 (GRCm39)	S346P	probably damaging	Het
Cyria	A	G	12: 12,408,057 (GRCm39)	T28A	possibly damaging	Het
Dnmt1	C	A	9: 20,831,498 (GRCm39)	C662F	probably damaging	Het
E2f6	G	A	12: 16,872,125 (GRCm39)	G190S	probably benign	Het
Esp34	A	T	17: 38,870,432 (GRCm39)	I109F	possibly damaging	Het
Espl1	A	T	15: 102,213,486 (GRCm39)	D604V	probably damaging	Het
Exo1	T	C	1: 175,728,870 (GRCm39)	C645R	probably benign	Het
Fah	A	G	7: 84,246,282 (GRCm39)	V189A	probably benign	Het
Fam184b	A	C	5: 45,688,093 (GRCm39)	Y939D	probably damaging	Het
Fchsd2	T	A	7: 100,908,829 (GRCm39)	L410*	probably null	Het
Gak	A	T	5: 108,739,065 (GRCm39)	I665N	possibly damaging	Het
Galnt9	A	G	5: 110,743,705 (GRCm39)		probably null	Het
Gcg	T	C	2: 62,306,103 (GRCm39)	R165G	probably benign	Het
Hexd	T	C	11: 121,108,923 (GRCm39)	V214A	possibly damaging	Het
Hoxb3	A	T	11: 96,235,507 (GRCm39)	S145C	probably damaging	Het
Il18	A	G	9: 50,486,640 (GRCm39)	Y23C	probably damaging	Het
Itgav	A	T	2: 83,632,373 (GRCm39)	I954F	probably benign	Het
Kcna4	A	G	2: 107,126,600 (GRCm39)	R445G	probably damaging	Het
Kyat3	T	A	3: 142,440,305 (GRCm39)	L343Q	probably damaging	Het
Lgals4	A	T	7: 28,537,117 (GRCm39)	D139V	possibly damaging	Het
Lrp3	C	T	7: 34,903,755 (GRCm39)	G197D	probably damaging	Het
Lyst	T	A	13: 13,821,668 (GRCm39)	C1347*	probably null	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map3k4	T	C	17: 12,480,219 (GRCm39)	Q661R	probably benign	Het
Marcks	A	C	10: 37,012,577 (GRCm39)	F153V	unknown	Het
Mocs1	T	C	17: 49,742,292 (GRCm39)		probably null	Het
Naa60	A	G	16: 3,719,768 (GRCm39)	T232A	probably benign	Het
Oosp1	A	T	19: 11,666,065 (GRCm39)	I75N	probably benign	Het
Opn3	A	G	1: 175,493,189 (GRCm39)	V125A	probably benign	Het
Or2ag18	A	G	7: 106,404,994 (GRCm39)	V225A	probably damaging	Het
Or2f1	T	A	6: 42,721,568 (GRCm39)	I199N	probably damaging	Het
Or4c102	A	G	2: 88,423,005 (GRCm39)	T286A	possibly damaging	Het
Or7g27	T	A	9: 19,250,294 (GRCm39)	C179*	probably null	Het
Palb2	T	C	7: 121,712,501 (GRCm39)	T947A	probably damaging	Het
Pde5a	C	T	3: 122,634,648 (GRCm39)	R730*	probably null	Het
Plcl1	T	C	1: 55,735,523 (GRCm39)	I288T	probably benign	Het
Plxnb2	A	G	15: 89,045,977 (GRCm39)	I966T	probably benign	Het
Prkcz	T	C	4: 155,355,742 (GRCm39)	E400G	probably damaging	Het
Prpf8	A	G	11: 75,400,102 (GRCm39)	D2332G	possibly damaging	Het
Ptgds	T	G	2: 25,357,920 (GRCm39)	T154P	probably benign	Het
Rel	T	C	11: 23,720,676 (GRCm39)		probably null	Het
Rxylt1	A	G	10: 121,917,344 (GRCm39)	W390R	probably damaging	Het
Serpinb1c	T	A	13: 33,066,200 (GRCm39)	K248N	probably benign	Het
Shkbp1	A	C	7: 27,046,583 (GRCm39)	W394G	possibly damaging	Het
Slc47a2	A	G	11: 61,193,076 (GRCm39)	V559A	probably benign	Het
Sox6	A	T	7: 115,400,813 (GRCm39)	F10I	probably damaging	Het
Stkld1	T	C	2: 26,837,259 (GRCm39)	V303A	probably benign	Het
Styk1	T	A	6: 131,289,803 (GRCm39)		probably null	Het
Tet1	T	C	10: 62,654,762 (GRCm39)	T1574A	possibly damaging	Het
Tkt	A	T	14: 30,290,180 (GRCm39)	I270F	possibly damaging	Het
Trak1	A	G	9: 121,271,777 (GRCm39)	E166G	probably damaging	Het
Tsc2	A	T	17: 24,849,939 (GRCm39)	I58N	probably damaging	Het
Uhmk1	T	A	1: 170,042,809 (GRCm39)	M1L	probably benign	Het
Usp50	T	C	2: 126,625,146 (GRCm39)	Y21C	probably damaging	Het
Vmn1r180	C	G	7: 23,652,685 (GRCm39)	P283A	probably damaging	Het
Vmn1r83	A	G	7: 12,055,505 (GRCm39)	M184T	possibly damaging	Het
Vmn2r109	A	G	17: 20,774,665 (GRCm39)	I230T	probably benign	Het

Other mutations in Ddhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Ddhd1	APN	14	45,854,008 (GRCm39)	missense	probably damaging	1.00
IGL01635:Ddhd1	APN	14	45,867,037 (GRCm39)	missense	probably null	0.98
IGL02176:Ddhd1	APN	14	45,854,057 (GRCm39)	missense	probably damaging	1.00
IGL02698:Ddhd1	APN	14	45,842,663 (GRCm39)	unclassified	probably benign
IGL03052:Ddhd1	UTSW	14	45,858,240 (GRCm39)	missense	probably damaging	1.00
PIT4434001:Ddhd1	UTSW	14	45,848,062 (GRCm39)	missense	possibly damaging	0.62
R0037:Ddhd1	UTSW	14	45,847,967 (GRCm39)	missense	probably damaging	1.00
R0105:Ddhd1	UTSW	14	45,848,147 (GRCm39)	missense	probably benign	0.37
R0165:Ddhd1	UTSW	14	45,833,049 (GRCm39)	missense	probably damaging	1.00
R1237:Ddhd1	UTSW	14	45,839,107 (GRCm39)	missense	probably benign	0.01
R1401:Ddhd1	UTSW	14	45,842,508 (GRCm39)	critical splice donor site	probably null
R1574:Ddhd1	UTSW	14	45,833,004 (GRCm39)	missense	probably damaging	1.00
R1574:Ddhd1	UTSW	14	45,833,004 (GRCm39)	missense	probably damaging	1.00
R1582:Ddhd1	UTSW	14	45,842,566 (GRCm39)	missense	probably damaging	0.98
R2070:Ddhd1	UTSW	14	45,848,081 (GRCm39)	missense	probably damaging	1.00
R2307:Ddhd1	UTSW	14	45,846,447 (GRCm39)	missense	probably damaging	1.00
R2417:Ddhd1	UTSW	14	45,894,729 (GRCm39)	missense	probably damaging	1.00
R3756:Ddhd1	UTSW	14	45,894,720 (GRCm39)	missense	probably damaging	1.00
R3756:Ddhd1	UTSW	14	45,848,030 (GRCm39)	missense	probably benign	0.00
R4541:Ddhd1	UTSW	14	45,860,313 (GRCm39)	nonsense	probably null
R4737:Ddhd1	UTSW	14	45,866,278 (GRCm39)	intron	probably benign
R5105:Ddhd1	UTSW	14	45,894,864 (GRCm39)	missense	probably benign	0.00
R5810:Ddhd1	UTSW	14	45,840,164 (GRCm39)	missense	probably damaging	1.00
R5898:Ddhd1	UTSW	14	45,840,125 (GRCm39)	missense	probably damaging	1.00
R6217:Ddhd1	UTSW	14	45,856,971 (GRCm39)	splice site	probably null
R6218:Ddhd1	UTSW	14	45,851,633 (GRCm39)	missense	probably damaging	1.00
R6671:Ddhd1	UTSW	14	45,894,689 (GRCm39)	frame shift	probably null
R6787:Ddhd1	UTSW	14	45,894,976 (GRCm39)	missense	probably benign	0.01
R7049:Ddhd1	UTSW	14	45,840,138 (GRCm39)	missense	probably damaging	1.00
R7150:Ddhd1	UTSW	14	45,895,263 (GRCm39)	missense	probably damaging	1.00
R7213:Ddhd1	UTSW	14	45,895,210 (GRCm39)	missense	probably benign	0.41
R7261:Ddhd1	UTSW	14	45,894,688 (GRCm39)	missense	probably damaging	1.00
R7920:Ddhd1	UTSW	14	45,894,927 (GRCm39)	missense	probably damaging	0.96
R8736:Ddhd1	UTSW	14	45,836,642 (GRCm39)	missense	probably benign	0.30
R8880:Ddhd1	UTSW	14	45,846,430 (GRCm39)	missense	probably benign
R9140:Ddhd1	UTSW	14	45,894,918 (GRCm39)	missense	probably benign	0.12
R9393:Ddhd1	UTSW	14	45,894,685 (GRCm39)	missense	probably damaging	1.00
R9398:Ddhd1	UTSW	14	45,895,117 (GRCm39)	missense	possibly damaging	0.60
R9399:Ddhd1	UTSW	14	45,895,117 (GRCm39)	missense	possibly damaging	0.60
R9502:Ddhd1	UTSW	14	45,894,679 (GRCm39)	missense	possibly damaging	0.75
R9687:Ddhd1	UTSW	14	45,848,190 (GRCm39)	missense	probably damaging	0.97
Z1177:Ddhd1	UTSW	14	45,895,051 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- GATGCGCAGAGAGTCGTAGC -3'
(R):5'- ATTATAAAGTCCGGGCCGAGAG -3'

Sequencing Primer
(F):5'- CCGATGAAGGGCTTCCAG -3'
(R):5'- ATGAACTACCCGGGCCG -3'

Posted On

2019-10-17