Mutagenetix > Incidental Mutation

Incidental Mutation 'R2070:Ddhd1'

227080

Institutional Source

Beutler Lab

Gene Symbol

Ddhd1

Ensembl Gene

ENSMUSG00000037697

Gene Name

DDHD domain containing 1

Synonyms

4921528E07Rik, 9630061G18Rik

MMRRC Submission

040075-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45830628-45895600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45848081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 529 (D529G)

Ref Sequence

ENSEMBL: ENSMUSP00000107459 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051310
AA Change: D529G

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

SMART Domains

Protein: ENSMUSP00000050088
Gene: ENSMUSG00000037697
AA Change: D529G

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 damaging
Transcript: ENSMUST00000087320
AA Change: D563G

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

SMART Domains

Protein: ENSMUSP00000084577
Gene: ENSMUSG00000037697
AA Change: D563G

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 damaging
Transcript: ENSMUST00000111828
AA Change: D529G

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

SMART Domains

Protein: ENSMUSP00000107459
Gene: ENSMUSG00000037697
AA Change: D529G

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: ENSMUST00000126428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129599

Predicted Effect

probably benign
Transcript: ENSMUST00000141487

SMART Domains

Protein: ENSMUSP00000133358
Gene: ENSMUSG00000037697

Domain	Start	End	E-Value	Type
Blast:DDHD	111	149	1e-17	BLAST

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: ENSMUST00000152110

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227258

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	G	11: 58,767,595 (GRCm39)	K31E	probably damaging	Het
Abcc10	G	C	17: 46,614,491 (GRCm39)	N1477K	probably benign	Het
Ablim2	G	A	5: 35,955,857 (GRCm39)	C24Y	probably damaging	Het
Ankle1	T	C	8: 71,861,988 (GRCm39)	F497S	probably damaging	Het
Armh3	G	T	19: 45,879,724 (GRCm39)	P543Q	probably damaging	Het
Ash1l	C	G	3: 88,873,510 (GRCm39)	P98A	probably damaging	Het
Atad5	A	T	11: 79,988,878 (GRCm39)		probably null	Het
B3gnt4	A	T	5: 123,649,433 (GRCm39)	H266L	probably benign	Het
Bmi1	A	G	2: 18,688,851 (GRCm39)	I207V	probably benign	Het
Bnip3l	A	G	14: 67,226,671 (GRCm39)	M174T	probably damaging	Het
Bora	T	C	14: 99,299,714 (GRCm39)	S229P	probably damaging	Het
Ccdc121	T	C	5: 31,644,727 (GRCm39)	V160A	possibly damaging	Het
Ccdc27	T	A	4: 154,126,270 (GRCm39)	N73I	unknown	Het
Cdc42bpg	T	A	19: 6,370,518 (GRCm39)	C1204S	probably damaging	Het
Cdsn	A	T	17: 35,865,591 (GRCm39)	D40V	probably damaging	Het
Cilp	T	A	9: 65,186,377 (GRCm39)	V824D	probably damaging	Het
Cmtr1	A	G	17: 29,913,757 (GRCm39)		probably null	Het
Cntnap1	A	G	11: 101,073,805 (GRCm39)	Y652C	probably damaging	Het
Col12a1	T	C	9: 79,554,978 (GRCm39)	I2033M	probably benign	Het
Cwh43	T	C	5: 73,578,860 (GRCm39)	L289P	probably damaging	Het
Defb28	T	A	2: 152,362,064 (GRCm39)	S75T	probably benign	Het
Dennd2a	A	T	6: 39,442,053 (GRCm39)	V939D	probably damaging	Het
Dlg5	T	C	14: 24,186,703 (GRCm39)	R1866G	probably damaging	Het
Dsc1	C	T	18: 20,221,353 (GRCm39)		probably null	Het
Ecscr	T	G	18: 35,848,490 (GRCm39)	N184T	probably damaging	Het
Eif4ebp1	G	T	8: 27,763,372 (GRCm39)	R55L	probably damaging	Het
Eml1	G	T	12: 108,479,258 (GRCm39)	V344L	probably damaging	Het
Exoc2	G	T	13: 30,999,353 (GRCm39)	N901K	probably benign	Het
Fam161b	T	A	12: 84,403,202 (GRCm39)	I143F	probably benign	Het
Fam180a	A	G	6: 35,302,846 (GRCm39)	S2P	probably benign	Het
Fat3	T	A	9: 15,910,666 (GRCm39)	I1779F	probably benign	Het
Fat4	A	G	3: 39,064,804 (GRCm39)	K4920R	probably benign	Het
Fsip2	T	A	2: 82,806,699 (GRCm39)	V1006E	probably damaging	Het
Glcci1	A	G	6: 8,558,566 (GRCm39)	S30G	probably damaging	Het
Gm5414	A	T	15: 101,536,495 (GRCm39)	S43R	possibly damaging	Het
Hao1	T	C	2: 134,372,535 (GRCm39)	T158A	probably damaging	Het
Hic1	T	C	11: 75,059,885 (GRCm39)	H154R	possibly damaging	Het
Hmgxb3	T	C	18: 61,304,431 (GRCm39)	Y53C	probably damaging	Het
Ipmk	A	T	10: 71,208,579 (GRCm39)	K122*	probably null	Het
Jakmip2	T	C	18: 43,696,395 (GRCm39)	E518G	probably benign	Het
Kmt2e	A	G	5: 23,706,993 (GRCm39)	T1519A	probably benign	Het
Lfng	T	C	5: 140,598,350 (GRCm39)	I224T	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Map4k5	C	T	12: 69,863,111 (GRCm39)	V629I	probably damaging	Het
Med12l	A	G	3: 59,152,326 (GRCm39)	D1037G	probably damaging	Het
Morc1	C	T	16: 48,412,974 (GRCm39)	T705I	probably benign	Het
Mptx2	A	T	1: 173,102,145 (GRCm39)	Y181*	probably null	Het
Mrpl24	T	C	3: 87,830,374 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,089,266 (GRCm39)	E1132G	probably benign	Het
Nedd4l	T	G	18: 65,345,891 (GRCm39)	F814L	probably damaging	Het
Nmral1	T	A	16: 4,534,211 (GRCm39)	I77F	probably damaging	Het
Oit3	T	G	10: 59,266,835 (GRCm39)	I224L	probably benign	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pacs2	C	T	12: 113,024,731 (GRCm39)	T407I	probably damaging	Het
Pard6g	T	C	18: 80,160,940 (GRCm39)	I351T	probably benign	Het
Pdcl2	A	T	5: 76,472,838 (GRCm39)		probably null	Het
Pdzph1	T	C	17: 59,281,092 (GRCm39)	R397G	probably benign	Het
Phip	T	A	9: 82,757,352 (GRCm39)	I1607L	probably benign	Het
Plekhd1	C	A	12: 80,739,681 (GRCm39)	S10*	probably null	Het
Pramel24	T	G	4: 143,453,472 (GRCm39)	Y193*	probably null	Het
Prdm1	C	T	10: 44,317,408 (GRCm39)	D505N	possibly damaging	Het
Psmd13	T	C	7: 140,477,561 (GRCm39)	V320A	probably damaging	Het
Rbak	A	G	5: 143,162,339 (GRCm39)	L8P	probably damaging	Het
Rere	C	A	4: 150,699,047 (GRCm39)		probably benign	Het
Rint1	T	C	5: 24,015,927 (GRCm39)	S456P	possibly damaging	Het
Scn3a	T	C	2: 65,351,210 (GRCm39)	Q446R	possibly damaging	Het
Slitrk5	A	G	14: 111,917,621 (GRCm39)	Y415C	probably damaging	Het
Snrnp200	A	G	2: 127,054,323 (GRCm39)	E210G	possibly damaging	Het
Snrnp200	A	G	2: 127,079,803 (GRCm39)	T1891A	probably benign	Het
Sohlh2	A	G	3: 55,115,043 (GRCm39)	I343V	probably benign	Het
Spin1	T	C	13: 51,298,573 (GRCm39)		probably null	Het
St14	T	A	9: 31,002,669 (GRCm39)	I745F	probably damaging	Het
Sv2a	G	A	3: 96,101,191 (GRCm39)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,654,950 (GRCm39)	G113C	probably damaging	Het
Tlcd3b	T	C	7: 126,419,012 (GRCm39)	L4P	probably benign	Het
Trp53	A	G	11: 69,480,458 (GRCm39)	D278G	probably damaging	Het
Ubxn7	T	A	16: 32,191,287 (GRCm39)	C160S	possibly damaging	Het
Uty	T	C	Y: 1,169,193 (GRCm39)	E414G	probably benign	Het
Wrap73	T	A	4: 154,233,200 (GRCm39)	S125T	possibly damaging	Het
Wwc2	T	C	8: 48,321,356 (GRCm39)	D586G	unknown	Het
Zfp106	T	C	2: 120,354,010 (GRCm39)	H1490R	probably benign	Het
Zswim5	T	C	4: 116,837,109 (GRCm39)	V731A	probably benign	Het
Zyg11b	G	C	4: 108,108,016 (GRCm39)	N463K	possibly 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
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
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'- GACATTGCCAACTCCTTCAAAG -3'
(R):5'- TAACCTAGTTGTAGTTCATCCGTCATG -3'

Sequencing Primer
(F):5'- TTCAAAGGCCAGGGCTGTTAC -3'
(R):5'- GTTGCTAGCACTCAGTGAAAAGTC -3'

Posted On

2014-09-17