Mutagenetix > Incidental Mutation

Incidental Mutation 'R4737:Ddhd1'

359368

Institutional Source

Beutler Lab

Gene Symbol

Ddhd1

Ensembl Gene

ENSMUSG00000037697

Gene Name

DDHD domain containing 1

Synonyms

4921528E07Rik, 9630061G18Rik

MMRRC Submission

042024-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4737 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45830628-45895600 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 45866278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154065 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051310

SMART Domains

Protein: ENSMUSP00000050088
Gene: ENSMUSG00000037697

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

probably benign
Transcript: ENSMUST00000087320

SMART Domains

Protein: ENSMUSP00000084577
Gene: ENSMUSG00000037697

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

probably benign
Transcript: ENSMUST00000111828

SMART Domains

Protein: ENSMUSP00000107459
Gene: ENSMUSG00000037697

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

noncoding transcript
Transcript: ENSMUST00000147551

Predicted Effect

probably benign
Transcript: ENSMUST00000149286

SMART Domains

Protein: ENSMUSP00000118848
Gene: ENSMUSG00000037697

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

noncoding transcript
Transcript: ENSMUST00000153547

Predicted Effect

probably benign
Transcript: ENSMUST00000226301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226559

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

100% (94/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	A	G	1: 181,055,384 (GRCm39)		noncoding transcript	Het
Acp2	A	T	2: 91,041,068 (GRCm39)	R419W	probably benign	Het
Actr5	A	G	2: 158,469,991 (GRCm39)	N207S	probably damaging	Het
Afap1	G	A	5: 36,119,126 (GRCm39)	V254M	probably benign	Het
Arfgef1	A	T	1: 10,259,836 (GRCm39)	M544K	possibly damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Bnip3l-ps	G	A	12: 18,266,773 (GRCm39)		noncoding transcript	Het
Carf	A	G	1: 60,148,477 (GRCm39)	T58A	probably benign	Het
Carns1	A	G	19: 4,220,927 (GRCm39)		probably benign	Het
Ccp110	T	A	7: 118,323,771 (GRCm39)	I670K	possibly damaging	Het
Cftr	T	A	6: 18,299,882 (GRCm39)	D1218E	probably benign	Het
Chrna9	A	T	5: 66,125,214 (GRCm39)	T52S	probably damaging	Het
Chst9	T	C	18: 15,585,834 (GRCm39)	Y243C	probably damaging	Het
Ciao3	A	T	17: 26,000,283 (GRCm39)	H322L	probably damaging	Het
Cilk1	A	G	9: 78,057,936 (GRCm39)	T162A	probably damaging	Het
Clk2	A	T	3: 89,076,016 (GRCm39)	H62L	probably benign	Het
Cntnap2	A	T	6: 45,037,251 (GRCm39)	R10W	possibly damaging	Het
Cpt1b	C	T	15: 89,305,609 (GRCm39)	D369N	probably benign	Het
Crhr2	G	T	6: 55,068,290 (GRCm39)	H423Q	probably damaging	Het
D8Ertd738e	T	A	8: 84,976,150 (GRCm39)	I33F	probably damaging	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Ddx27	A	G	2: 166,871,219 (GRCm39)	I480V	probably benign	Het
Dpp9	A	C	17: 56,505,970 (GRCm39)		probably null	Het
Dpy19l3	A	T	7: 35,402,926 (GRCm39)	M562K	probably damaging	Het
Dus3l	T	C	17: 57,074,868 (GRCm39)	L330P	probably damaging	Het
Efcab7	C	T	4: 99,719,805 (GRCm39)	Q96*	probably null	Het
Egfr	T	C	11: 16,819,231 (GRCm39)	F254L	probably damaging	Het
Eml5	C	T	12: 98,765,111 (GRCm39)	V1566M	probably damaging	Het
Entpd7	T	A	19: 43,679,634 (GRCm39)	Y62*	probably null	Het
Erbb4	T	C	1: 68,383,059 (GRCm39)	M313V	probably damaging	Het
Gm5528	A	G	1: 72,043,711 (GRCm39)		noncoding transcript	Het
H2-M9	G	T	17: 36,951,631 (GRCm39)	Y281*	probably null	Het
Hmcn1	T	G	1: 150,565,346 (GRCm39)	K2260N	possibly damaging	Het
Hnf4a	A	G	2: 163,406,139 (GRCm39)	I259V	probably benign	Het
Insm1	A	T	2: 146,064,822 (GRCm39)	T213S	probably benign	Het
Iqca1	T	C	1: 90,005,544 (GRCm39)	D488G	probably damaging	Het
Kdm5a	T	A	6: 120,382,976 (GRCm39)		probably benign	Het
Kdm7a	G	C	6: 39,129,773 (GRCm39)	L468V	possibly damaging	Het
Lck	G	A	4: 129,449,777 (GRCm39)	T229I	possibly damaging	Het
Lig3	T	C	11: 82,678,553 (GRCm39)	L265P	probably damaging	Het
Lipa	T	A	19: 34,479,034 (GRCm39)	K229*	probably null	Het
Lrrk1	C	T	7: 65,956,621 (GRCm39)	S418N	probably benign	Het
Mark2	A	G	19: 7,258,597 (GRCm39)	V126A	probably damaging	Het
Met	T	C	6: 17,491,540 (GRCm39)	C101R	probably damaging	Het
Mkln1	A	T	6: 31,403,734 (GRCm39)	K85M	probably damaging	Het
Mst1	A	G	9: 107,957,720 (GRCm39)	R15G	probably benign	Het
Muc6	T	G	7: 141,226,426 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myo7b	T	C	18: 32,131,655 (GRCm39)	S514G	probably damaging	Het
Nars1	T	C	18: 64,649,498 (GRCm39)	E11G	probably benign	Het
Ogdh	T	A	11: 6,247,044 (GRCm39)	F23I	probably benign	Het
Or10g9	A	T	9: 39,911,718 (GRCm39)	D268E	probably damaging	Het
Or12e9	T	C	2: 87,202,665 (GRCm39)	I263T	probably damaging	Het
Or4a39	C	T	2: 89,236,830 (GRCm39)	V198I	probably benign	Het
Or4b1b	A	G	2: 90,112,725 (GRCm39)	S65P	probably damaging	Het
Or4c100	C	T	2: 88,356,569 (GRCm39)	S214F	probably damaging	Het
Or52r1c	C	T	7: 102,735,121 (GRCm39)	A127V	probably damaging	Het
Or9k2	T	A	10: 129,998,707 (GRCm39)	T163S	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pappa2	T	C	1: 158,784,582 (GRCm39)	R143G	probably benign	Het
Patl2	T	A	2: 121,955,787 (GRCm39)	T250S	probably damaging	Het
Pcdhac2	C	T	18: 37,278,952 (GRCm39)	T644I	possibly damaging	Het
Pi4kb	C	T	3: 94,911,649 (GRCm39)	T690I	probably damaging	Het
Pla2g4d	T	C	2: 120,097,271 (GRCm39)	Y776C	probably benign	Het
Plekhh2	C	T	17: 84,871,387 (GRCm39)	S215L	probably benign	Het
Psmd2	T	G	16: 20,478,565 (GRCm39)		probably benign	Het
Ptpn21	T	C	12: 98,675,103 (GRCm39)	E183G	probably benign	Het
Ptprg	T	A	14: 12,226,314 (GRCm38)	D527E	probably damaging	Het
Rhobtb1	T	A	10: 69,115,327 (GRCm39)		probably null	Het
Scel	T	A	14: 103,809,473 (GRCm39)	M271K	possibly damaging	Het
Senp3	A	T	11: 69,569,655 (GRCm39)	C310*	probably null	Het
Slc25a3	T	C	10: 90,958,050 (GRCm39)	T97A	possibly damaging	Het
Srsf11	A	T	3: 157,732,369 (GRCm39)	Y82*	probably null	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tbkbp1	T	C	11: 97,039,474 (GRCm39)	E145G	probably damaging	Het
Tln1	T	C	4: 43,540,588 (GRCm39)	N1471S	probably benign	Het
Tnn	T	G	1: 159,973,659 (GRCm39)	D236A	probably damaging	Het
Trmt2a	C	T	16: 18,069,150 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubxn10	G	A	4: 138,463,259 (GRCm39)		probably benign	Het
Ulk4	G	A	9: 120,902,938 (GRCm39)	Q1180*	probably null	Het
Usp43	T	A	11: 67,746,331 (GRCm39)	K1120N	probably damaging	Het
Uspl1	T	A	5: 149,131,149 (GRCm39)	L244Q	possibly damaging	Het
Vmn1r32	T	C	6: 66,530,629 (GRCm39)	H49R	probably damaging	Het
Vmn2r4	T	C	3: 64,317,384 (GRCm39)	D118G	probably damaging	Het
Vwce	A	G	19: 10,627,943 (GRCm39)	I468V	probably benign	Het
Zbtb7c	G	T	18: 76,279,225 (GRCm39)	R561L	probably benign	Het
Zfp956	T	C	6: 47,939,476 (GRCm39)	S175P	probably damaging	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
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
R7522:Ddhd1	UTSW	14	45,895,104 (GRCm39)	missense	possibly damaging	0.47
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'- AGAAACCCAGTGAAGGCCTG -3'
(R):5'- CACTCAGAAGTAACTTTGTTTCAGCC -3'

Sequencing Primer
(F):5'- ACAGTGAGGAGCCGCATC -3'
(R):5'- GCCATTAGGAACCTTATAGACTTGCC -3'

Posted On

2015-11-11