Mutagenetix > Incidental Mutation

Incidental Mutation 'R5898:Ddhd1'

457685

Institutional Source

Beutler Lab

Gene Symbol

Ddhd1

Ensembl Gene

ENSMUSG00000037697

Gene Name

DDHD domain containing 1

Synonyms

4921528E07Rik, 9630061G18Rik

MMRRC Submission

044097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45830628-45895600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45840125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 723 (I723K)

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: I723K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050088
Gene: ENSMUSG00000037697
AA Change: I723K

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: I757K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084577
Gene: ENSMUSG00000037697
AA Change: I757K

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: I723K

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

SMART Domains

Protein: ENSMUSP00000107459
Gene: ENSMUSG00000037697
AA Change: I723K

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: ENSMUST00000122972

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

noncoding transcript
Transcript: ENSMUST00000152110

Predicted Effect

unknown
Transcript: ENSMUST00000156758
AA Change: I20K

SMART Domains

Protein: ENSMUSP00000121837
Gene: ENSMUSG00000037697
AA Change: I20K

Domain	Start	End	E-Value	Type
DDHD	1	168	3.8e-11	SMART

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (86/90)

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
1700017N19Rik	G	T	10: 100,448,762 (GRCm39)	R158L	possibly damaging	Het
1700017N19Rik	G	A	10: 100,451,070 (GRCm39)	M179I	probably benign	Het
Abhd12	T	C	2: 150,681,698 (GRCm39)	I231V	possibly damaging	Het
Adsl	A	G	15: 80,845,554 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,991,131 (GRCm39)	N4138K	possibly damaging	Het
Ahnak	T	C	19: 8,995,575 (GRCm39)	S5620P	probably damaging	Het
Akap13	C	T	7: 75,378,894 (GRCm39)	T2145I	probably damaging	Het
Alpk2	T	A	18: 65,440,694 (GRCm39)	Q700L	probably damaging	Het
Apobec1	T	C	6: 122,557,732 (GRCm39)	Y159C	probably damaging	Het
Atg9a	T	C	1: 75,162,916 (GRCm39)	T395A	probably damaging	Het
Atp6v1f	A	G	6: 29,467,957 (GRCm39)	I48V	probably benign	Het
BC051665	A	C	13: 60,930,518 (GRCm39)	V278G	probably damaging	Het
Bicd1	A	T	6: 149,415,201 (GRCm39)	H638L	probably damaging	Het
Cacna2d4	A	G	6: 119,251,192 (GRCm39)	Y460C	probably damaging	Het
Ccdc157	C	A	11: 4,094,538 (GRCm39)	R496L	probably benign	Het
Cdcp3	T	G	7: 130,843,696 (GRCm39)		probably null	Het
Cep44	C	G	8: 56,994,056 (GRCm39)	V174L	probably damaging	Het
Clca3a1	G	T	3: 144,722,522 (GRCm39)	F283L	possibly damaging	Het
Csk	T	C	9: 57,537,585 (GRCm39)	T110A	probably benign	Het
Cspg4	T	A	9: 56,792,506 (GRCm39)		probably null	Het
Cutc	A	G	19: 43,748,468 (GRCm39)	I124V	probably benign	Het
Cyp2d9	A	G	15: 82,339,725 (GRCm39)	T104A	probably benign	Het
Cyp2j9	G	T	4: 96,465,951 (GRCm39)	T294K	probably benign	Het
D630003M21Rik	T	A	2: 158,046,577 (GRCm39)		probably null	Het
Dcaf15	G	T	8: 84,825,081 (GRCm39)	F450L	probably damaging	Het
Dnah17	C	T	11: 118,005,039 (GRCm39)	A782T	probably benign	Het
Dnah3	T	C	7: 119,677,724 (GRCm39)	D399G	probably benign	Het
Dync2h1	T	C	9: 7,148,717 (GRCm39)	N909S	probably benign	Het
Erbin	A	G	13: 103,975,813 (GRCm39)		probably null	Het
Fanci	G	A	7: 79,083,069 (GRCm39)	V682I	probably benign	Het
Fap	A	T	2: 62,403,847 (GRCm39)	F9L	probably benign	Het
Fat3	T	C	9: 15,849,757 (GRCm39)	I3882V	probably benign	Het
Fkbp15	A	T	4: 62,244,294 (GRCm39)		probably null	Het
Fsd2	T	C	7: 81,186,975 (GRCm39)	Y601C	probably damaging	Het
Gm5900	T	C	7: 104,599,468 (GRCm39)		noncoding transcript	Het
Gramd4	G	T	15: 85,984,985 (GRCm39)	G82V	probably damaging	Het
Hc	C	T	2: 34,887,449 (GRCm39)	V1352I	probably benign	Het
Hsph1	A	T	5: 149,548,623 (GRCm39)	N466K	probably damaging	Het
Ice2	T	A	9: 69,315,544 (GRCm39)	D133E	probably benign	Het
Ifi213	T	C	1: 173,396,545 (GRCm39)	M510V	probably benign	Het
Itpkb	T	G	1: 180,248,880 (GRCm39)	L861R	probably damaging	Het
Kbtbd3	T	A	9: 4,330,476 (GRCm39)	D283E	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Masp1	T	A	16: 23,310,677 (GRCm39)	I252F	probably damaging	Het
Megf11	G	T	9: 64,593,246 (GRCm39)	C586F	probably damaging	Het
Myh2	C	A	11: 67,083,545 (GRCm39)	A1476E	possibly damaging	Het
Myo18b	A	T	5: 112,950,196 (GRCm39)		probably null	Het
Naip6	A	T	13: 100,435,829 (GRCm39)	V898E	possibly damaging	Het
Nav1	T	C	1: 135,512,884 (GRCm39)	M59V	probably benign	Het
Nlrp3	A	T	11: 59,437,678 (GRCm39)	Y119F	probably benign	Het
Oxa1l	T	A	14: 54,600,758 (GRCm39)	I77N	possibly damaging	Het
Pcdhb8	T	A	18: 37,490,537 (GRCm39)	D738E	possibly damaging	Het
Pdia5	A	T	16: 35,243,335 (GRCm39)	W269R	probably damaging	Het
Peak1	T	A	9: 56,114,622 (GRCm39)	T1440S	probably benign	Het
Piezo1	A	G	8: 123,214,682 (GRCm39)	V1547A	probably benign	Het
Pkp1	T	C	1: 135,810,259 (GRCm39)	Y437C	probably damaging	Het
Pla2r1	T	C	2: 60,253,104 (GRCm39)	D1329G	probably damaging	Het
Ppip5k2	T	C	1: 97,671,887 (GRCm39)		probably benign	Het
Prrg4	C	T	2: 104,675,378 (GRCm39)	S75N	probably benign	Het
Psmb9	T	A	17: 34,401,266 (GRCm39)	I198F	probably damaging	Het
Rcbtb2	T	A	14: 73,399,405 (GRCm39)	L23*	probably null	Het
Sbno1	A	T	5: 124,524,854 (GRCm39)		probably benign	Het
Scn3a	T	C	2: 65,345,039 (GRCm39)	E483G	probably damaging	Het
Sdccag8	T	A	1: 176,652,388 (GRCm39)	D46E	probably benign	Het
Selenov	A	G	7: 27,987,579 (GRCm39)	F293L	probably damaging	Het
Septin2	A	C	1: 93,407,023 (GRCm39)	D20A	probably benign	Het
Shc1	T	A	3: 89,334,274 (GRCm39)	Y313*	probably null	Het
Siglec1	T	A	2: 130,915,553 (GRCm39)	Y1346F	probably damaging	Het
Slc22a5	T	A	11: 53,764,559 (GRCm39)	I296F	probably damaging	Het
Slc9c1	A	G	16: 45,365,123 (GRCm39)	N152S	probably damaging	Het
Smoc1	C	T	12: 81,151,531 (GRCm39)	R83*	probably null	Het
Ssx2ip	A	G	3: 146,133,586 (GRCm39)	D227G	possibly damaging	Het
Tbrg4	T	C	11: 6,567,372 (GRCm39)	D576G	probably damaging	Het
Tbx20	T	A	9: 24,670,155 (GRCm39)	Y226F	probably damaging	Het
Trav10d	G	T	14: 53,048,929 (GRCm39)	A107S	probably damaging	Het
Trim60	A	T	8: 65,453,016 (GRCm39)	L411*	probably null	Het
Ttbk2	A	T	2: 120,575,521 (GRCm39)	V1083D	probably benign	Het
Unc93a	T	A	17: 13,344,464 (GRCm39)	Q26L	probably damaging	Het
Usp14	T	A	18: 10,022,819 (GRCm39)	N65I	possibly damaging	Het
Vip	A	T	10: 5,593,988 (GRCm39)	S114C	probably damaging	Het
Vmn1r237	A	T	17: 21,534,813 (GRCm39)	I179F	probably damaging	Het
Wdr47	T	A	3: 108,545,201 (GRCm39)		probably null	Het
Zfp975	A	T	7: 42,311,963 (GRCm39)	C217S	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
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
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'- CAGAGGATGTCAGAGCATCTGC -3'
(R):5'- TAGGCCTACAGATTAGAACCGTTG -3'

Sequencing Primer
(F):5'- GCTTCAGTCAGCAAAGACGCTAATTC -3'
(R):5'- CCGTTGATTTTGAAACACTACAGC -3'

Posted On

2017-02-15