Mutagenetix > Incidental Mutation

Incidental Mutation 'R7261:Ddhd1'

564653

Institutional Source

Beutler Lab

Gene Symbol

Ddhd1

Ensembl Gene

ENSMUSG00000037697

Gene Name

DDHD domain containing 1

Synonyms

4921528E07Rik, 9630061G18Rik

MMRRC Submission

045387-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45830628-45895600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45894688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 261 (Y261H)

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

probably damaging
Transcript: ENSMUST00000051310
AA Change: Y261H

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

SMART Domains

Protein: ENSMUSP00000050088
Gene: ENSMUSG00000037697
AA Change: Y261H

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: Y261H

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

SMART Domains

Protein: ENSMUSP00000084577
Gene: ENSMUSG00000037697
AA Change: Y261H

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: Y261H

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

SMART Domains

Protein: ENSMUSP00000107459
Gene: ENSMUSG00000037697
AA Change: Y261H

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

probably damaging
Transcript: ENSMUST00000149286
AA Change: Y261H

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

SMART Domains

Protein: ENSMUSP00000118848
Gene: ENSMUSG00000037697
AA Change: Y261H

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 damaging
Transcript: ENSMUST00000226301
AA Change: Y44H

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

Meta Mutation Damage Score

0.7116

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,259,526 (GRCm39)	F1954L	probably damaging	Het
Acmsd	T	G	1: 127,687,561 (GRCm39)	I281R	probably damaging	Het
Adamts2	A	T	11: 50,677,424 (GRCm39)	M742L	possibly damaging	Het
Adgrf4	G	A	17: 42,978,326 (GRCm39)	T339I	probably benign	Het
Aff1	T	C	5: 103,976,245 (GRCm39)	S448P	probably damaging	Het
Agbl2	A	T	2: 90,619,288 (GRCm39)	S38C	possibly damaging	Het
Akap7	C	T	10: 25,147,416 (GRCm39)	D105N	possibly damaging	Het
Arhgap21	A	G	2: 20,885,177 (GRCm39)	F677L	probably benign	Het
Atf6b	G	T	17: 34,869,792 (GRCm39)	V271F	probably damaging	Het
B3gnt5	A	G	16: 19,588,123 (GRCm39)	Y114C	probably damaging	Het
Casp7	T	A	19: 56,424,765 (GRCm39)	D161E	probably benign	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cfap74	C	A	4: 155,549,831 (GRCm39)	P155T	unknown	Het
Champ1	A	G	8: 13,928,517 (GRCm39)	D225G	possibly damaging	Het
Chrng	A	T	1: 87,134,962 (GRCm39)		probably null	Het
Cnksr1	T	C	4: 133,963,084 (GRCm39)		probably null	Het
Col15a1	G	A	4: 47,269,088 (GRCm39)	G582D	probably benign	Het
Cwc25	A	G	11: 97,648,585 (GRCm39)	V81A	possibly damaging	Het
Defa29	A	G	8: 21,816,818 (GRCm39)		probably null	Het
Diaph3	A	C	14: 87,202,893 (GRCm39)	C666G	probably benign	Het
Dlx2	A	G	2: 71,375,019 (GRCm39)	Y282H	probably damaging	Het
Dsc3	A	T	18: 20,113,814 (GRCm39)	Y369*	probably null	Het
Dtwd1	A	G	2: 126,000,424 (GRCm39)	N120S	probably benign	Het
Dysf	G	A	6: 84,169,992 (GRCm39)	S1761N	probably damaging	Het
Enthd1	A	T	15: 80,444,416 (GRCm39)	N46K	probably damaging	Het
Epha7	T	A	4: 28,813,418 (GRCm39)	I12N	probably benign	Het
Fam171a2	T	A	11: 102,328,900 (GRCm39)	N620Y	probably damaging	Het
Garin4	T	C	1: 190,896,308 (GRCm39)	S112G	unknown	Het
Gfpt2	A	T	11: 49,714,078 (GRCm39)	E278D	possibly damaging	Het
Gm3285	A	G	10: 77,698,244 (GRCm39)	Q131R	unknown	Het
Gpcpd1	A	C	2: 132,410,619 (GRCm39)	C23G	probably damaging	Het
Gtpbp4	A	T	13: 9,037,954 (GRCm39)	H228Q	probably benign	Het
Hdac7	A	G	15: 97,704,415 (GRCm39)	V500A	probably benign	Het
Hykk	T	G	9: 54,828,010 (GRCm39)	M83R	possibly damaging	Het
Idi1	A	G	13: 8,936,931 (GRCm39)	I101V	probably benign	Het
Irs2	A	T	8: 11,057,018 (GRCm39)	H471Q	possibly damaging	Het
Itsn1	T	C	16: 91,702,194 (GRCm39)	V12A	probably benign	Het
Jak2	A	G	19: 29,288,385 (GRCm39)	I1079V	possibly damaging	Het
Kcnt2	G	A	1: 140,282,255 (GRCm39)	R80H	possibly damaging	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lgr5	A	T	10: 115,423,370 (GRCm39)	L10Q	possibly damaging	Het
Lnx1	G	T	5: 74,838,175 (GRCm39)	S29*	probably null	Het
Lpcat3	T	A	6: 124,675,050 (GRCm39)	F57I	probably benign	Het
Manf	T	C	9: 106,769,088 (GRCm39)	T4A	probably benign	Het
Map2k3	G	A	11: 60,836,393 (GRCm39)		probably null	Het
Myh14	G	A	7: 44,273,761 (GRCm39)	Q1329*	probably null	Het
Myocd	T	C	11: 65,078,422 (GRCm39)	S458G	probably damaging	Het
Ncor2	T	C	5: 125,187,143 (GRCm39)		probably null	Het
Ndufs8	A	T	19: 3,961,606 (GRCm39)	N23K	probably benign	Het
Nkx6-1	T	C	5: 101,812,006 (GRCm39)	K32R	unknown	Het
Nlrp3	T	G	11: 59,439,272 (GRCm39)	V283G	possibly damaging	Het
Nme3	A	G	17: 25,116,037 (GRCm39)		probably null	Het
Or1o3	A	G	17: 37,574,076 (GRCm39)	F160L	probably benign	Het
Or8g23	C	T	9: 38,971,504 (GRCm39)	V153M	possibly damaging	Het
Parvg	T	C	15: 84,215,297 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,756,591 (GRCm39)	M389K	unknown	Het
Phf23	G	T	11: 69,890,091 (GRCm39)	C340F	possibly damaging	Het
Piwil2	A	G	14: 70,611,860 (GRCm39)	Y929H	probably damaging	Het
Prss39	A	G	1: 34,539,369 (GRCm39)	D203G	probably damaging	Het
Prss54	G	T	8: 96,286,367 (GRCm39)	D235E	probably benign	Het
Prtg	T	A	9: 72,815,117 (GRCm39)	M1015K	possibly damaging	Het
Rbbp8	T	C	18: 11,838,799 (GRCm39)	I160T	probably damaging	Het
Rxylt1	A	T	10: 121,924,822 (GRCm39)	D293E	probably benign	Het
Scn10a	C	A	9: 119,438,790 (GRCm39)	C1692F	probably damaging	Het
Scn11a	C	T	9: 119,648,899 (GRCm39)	D55N	probably damaging	Het
Secisbp2	G	T	13: 51,836,498 (GRCm39)	V768F	probably damaging	Het
Skic3	A	G	13: 76,261,698 (GRCm39)	T138A	probably benign	Het
Spag16	T	C	1: 70,338,780 (GRCm39)	I426T	possibly damaging	Het
Sspo	G	A	6: 48,427,011 (GRCm39)	V250M	possibly damaging	Het
Strbp	A	T	2: 37,531,149 (GRCm39)		probably null	Het
Sv2c	C	T	13: 96,224,809 (GRCm39)	V167M	probably damaging	Het
Tdpoz1	G	A	3: 93,577,794 (GRCm39)	S330L	not run	Het
Tigd2	T	A	6: 59,188,052 (GRCm39)	D306E	probably benign	Het
Trrap	C	T	5: 144,782,287 (GRCm39)	P3278S	possibly damaging	Het
Vdac1	A	T	11: 52,265,761 (GRCm39)	K28N	probably damaging	Het
Vmn1r84	A	T	7: 12,096,069 (GRCm39)	M208K	probably damaging	Het
Vmn2r77	A	T	7: 86,460,518 (GRCm39)	K615*	probably null	Het
Vps11	A	G	9: 44,265,800 (GRCm39)	L493P	probably damaging	Het
Zbtb21	T	C	16: 97,754,179 (GRCm39)	I35V	possibly damaging	Het
Zbtb26	A	T	2: 37,326,667 (GRCm39)	M123K	possibly damaging	Het
Zfp236	A	T	18: 82,627,470 (GRCm39)	D1576E	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
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
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'- ATGGCAGCAGCACTCTACTC -3'
(R):5'- AAGACCTGGAAGCCCTTCATC -3'

Sequencing Primer
(F):5'- TCTACTCACCCAGGAGGC -3'
(R):5'- TACGACTCTCTGCGCATCGAG -3'

Posted On

2019-06-26