Mutagenetix > Incidental Mutation

Incidental Mutation 'R7874:Zdhhc17'

608333

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc17

Ensembl Gene

ENSMUSG00000035798

Gene Name

zinc finger, DHHC domain containing 17

Synonyms

Hip14, A230053P19Rik, D130071N24Rik

MMRRC Submission

045926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7874 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110941780-111010140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110982117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 67 (Y67N)

Ref Sequence

ENSEMBL: ENSMUSP00000043279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041723] [ENSMUST00000219307]

AlphaFold

Q80TN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041723
AA Change: Y67N

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: Y67N

Domain	Start	End	E-Value	Type
Blast:ANK	57	85	2e-8	BLAST
ANK	89	118	6.71e-2	SMART
ANK	123	152	1.99e-4	SMART
ANK	156	185	1.61e-4	SMART
ANK	189	219	1.9e-1	SMART
ANK	224	253	1.53e-5	SMART
Blast:ANK	257	286	2e-11	BLAST
transmembrane domain	305	323	N/A	INTRINSIC
transmembrane domain	328	350	N/A	INTRINSIC
transmembrane domain	357	379	N/A	INTRINSIC
transmembrane domain	384	403	N/A	INTRINSIC
Pfam:zf-DHHC	434	570	1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219307

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (57/58)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reminiscent of Huntington disease (decreased body weight, impaired coordination, hyperactivity, increased rearing, decreased prepulse inhibition, increased stereotypic behavior, reduced striatum, and decreased brain weight). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	C	A	3: 6,620,141 (GRCm38)	K84N	probably damaging	Het
Aacs	T	C	5: 125,506,207 (GRCm38)	F276L	possibly damaging	Het
Aicda	T	A	6: 122,561,949 (GRCm38)	I179N	probably damaging	Het
Anks6	T	A	4: 47,049,275 (GRCm38)	H210L	unknown	Het
Ano1	G	A	7: 144,621,724 (GRCm38)	R486W	probably damaging	Het
Atp8b1	A	G	18: 64,571,024 (GRCm38)	V341A	probably benign	Het
AY761184	C	A	8: 21,702,796 (GRCm38)	R61S	possibly damaging	Het
Btn1a1	T	C	13: 23,459,215 (GRCm38)	T355A	possibly damaging	Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431 (GRCm38)		probably benign	Het
Ceacam19	A	T	7: 19,886,438 (GRCm38)	D89E	probably damaging	Het
Cerkl	T	A	2: 79,338,637 (GRCm38)	R407S	probably damaging	Het
Chl1	A	G	6: 103,690,263 (GRCm38)	T389A	probably benign	Het
Dcn	A	G	10: 97,510,194 (GRCm38)		probably null	Het
Dhtkd1	T	C	2: 5,917,674 (GRCm38)	Q558R	possibly damaging	Het
Dhx36	C	A	3: 62,488,631 (GRCm38)	V452L	probably benign	Het
Dlg5	A	G	14: 24,135,619 (GRCm38)	V1906A	probably damaging	Het
Emc4	T	C	2: 112,363,833 (GRCm38)	T159A	probably damaging	Het
Fstl5	C	A	3: 76,661,786 (GRCm38)	P582Q	probably benign	Het
Gm960	C	T	19: 4,658,423 (GRCm38)	C347Y	probably damaging	Het
Izumo1r	T	A	9: 14,900,579 (GRCm38)	Y171F	probably benign	Het
Jag2	C	T	12: 112,915,946 (GRCm38)	V401M	probably damaging	Het
Jph2	C	T	2: 163,375,842 (GRCm38)	G305S	probably damaging	Het
Kbtbd13	C	A	9: 65,390,302 (GRCm38)	V451L	probably benign	Het
Map3k12	T	C	15: 102,500,642 (GRCm38)	T813A	possibly damaging	Het
Mast4	A	G	13: 102,739,275 (GRCm38)	L1295P	probably damaging	Het
Mia2	T	A	12: 59,108,588 (GRCm38)	D362E	probably damaging	Het
Mospd3	T	C	5: 137,600,028 (GRCm38)	Y77C	probably damaging	Het
Muc5ac	G	C	7: 141,809,303 (GRCm38)	G2117A	unknown	Het
Mup8	T	A	4: 60,222,420 (GRCm38)	H17L	probably damaging	Het
Naip2	C	T	13: 100,154,951 (GRCm38)	D1160N	probably benign	Het
Naip2	T	C	13: 100,154,960 (GRCm38)	S1157G	probably benign	Het
Ndnf	A	T	6: 65,703,429 (GRCm38)	M231L	probably benign	Het
Obscn	T	G	11: 59,133,276 (GRCm38)	T523P	probably damaging	Het
Olfr325	T	C	11: 58,581,747 (GRCm38)	V301A	possibly damaging	Het
P4htm	G	T	9: 108,596,949 (GRCm38)	A130E	probably benign	Het
Phc3	A	T	3: 30,936,714 (GRCm38)	D439E	probably benign	Het
Phlpp1	A	G	1: 106,389,873 (GRCm38)	I1275V	probably benign	Het
Poln	A	T	5: 34,024,350 (GRCm38)	I719N	probably damaging	Het
Ptch2	T	A	4: 117,105,964 (GRCm38)	L216Q	possibly damaging	Het
Rarres2	T	A	6: 48,572,145 (GRCm38)	K41N	probably benign	Het
Rasal3	C	T	17: 32,396,707 (GRCm38)	E386K	possibly damaging	Het
Rev3l	T	C	10: 39,822,495 (GRCm38)	I996T	possibly damaging	Het
Rreb1	A	G	13: 37,947,124 (GRCm38)	N36S	probably damaging	Het
Serpinb9d	T	A	13: 33,202,671 (GRCm38)		probably null	Het
Slc14a2	A	G	18: 78,160,768 (GRCm38)	V526A	probably benign	Het
Slc45a4	T	C	15: 73,584,335 (GRCm38)		probably null	Het
Srrm2	G	A	17: 23,815,678 (GRCm38)	R432H	unknown	Het
Svs1	A	G	6: 48,988,666 (GRCm38)	N536S	possibly damaging	Het
Th	G	A	7: 142,895,571 (GRCm38)	R266*	probably null	Het
Tln1	A	T	4: 43,555,606 (GRCm38)	D169E	probably damaging	Het
Tln1	T	C	4: 43,538,041 (GRCm38)	Y1853C	probably damaging	Het
Tmcc3	G	A	10: 94,551,027 (GRCm38)		probably null	Het
Tnxb	A	G	17: 34,711,443 (GRCm38)	E2034G	probably damaging	Het
Ttc4	T	C	4: 106,665,684 (GRCm38)	T346A	probably benign	Het
Vmn2r5	A	T	3: 64,491,032 (GRCm38)	V842E	probably damaging	Het
Vmn2r82	T	G	10: 79,396,511 (GRCm38)	N781K	probably damaging	Het
Zfp273	A	G	13: 67,825,439 (GRCm38)	T229A	probably benign	Het
Zkscan5	A	C	5: 145,220,866 (GRCm38)	H726P	probably damaging	Het
Zswim8	A	G	14: 20,723,149 (GRCm38)	H1769R	probably damaging	Het
Zzef1	T	C	11: 72,859,653 (GRCm38)	V929A	probably benign	Het

Other mutations in Zdhhc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Zdhhc17	APN	10	110,946,193 (GRCm38)	missense	probably damaging	1.00
IGL01812:Zdhhc17	APN	10	110,948,217 (GRCm38)	missense	possibly damaging	0.93
IGL01948:Zdhhc17	APN	10	110,946,276 (GRCm38)	missense	possibly damaging	0.56
IGL02002:Zdhhc17	APN	10	110,967,689 (GRCm38)	missense	probably benign
IGL03263:Zdhhc17	APN	10	110,961,016 (GRCm38)	missense	probably damaging	1.00
R0153:Zdhhc17	UTSW	10	110,955,094 (GRCm38)	nonsense	probably null
R0375:Zdhhc17	UTSW	10	110,982,106 (GRCm38)	nonsense	probably null
R0436:Zdhhc17	UTSW	10	110,981,990 (GRCm38)	splice site	probably null
R1452:Zdhhc17	UTSW	10	110,955,075 (GRCm38)	missense	probably benign	0.04
R1496:Zdhhc17	UTSW	10	110,946,210 (GRCm38)	missense	probably damaging	0.99
R1528:Zdhhc17	UTSW	10	110,948,189 (GRCm38)	critical splice donor site	probably null
R1856:Zdhhc17	UTSW	10	110,947,293 (GRCm38)	splice site	probably null
R2119:Zdhhc17	UTSW	10	110,982,048 (GRCm38)	missense	possibly damaging	0.92
R3747:Zdhhc17	UTSW	10	110,944,420 (GRCm38)	missense	probably benign	0.24
R4900:Zdhhc17	UTSW	10	110,985,958 (GRCm38)	missense	possibly damaging	0.95
R5647:Zdhhc17	UTSW	10	110,973,833 (GRCm38)	missense	probably damaging	1.00
R5758:Zdhhc17	UTSW	10	110,944,395 (GRCm38)	makesense	probably null
R6228:Zdhhc17	UTSW	10	110,956,355 (GRCm38)	missense	probably benign	0.01
R6823:Zdhhc17	UTSW	10	110,955,111 (GRCm38)	missense	possibly damaging	0.91
R7172:Zdhhc17	UTSW	10	111,009,948 (GRCm38)	missense	possibly damaging	0.82
R8353:Zdhhc17	UTSW	10	111,009,942 (GRCm38)	missense	probably benign	0.09
R8674:Zdhhc17	UTSW	10	110,949,679 (GRCm38)	missense	probably benign	0.25
R8676:Zdhhc17	UTSW	10	110,962,379 (GRCm38)	intron	probably benign
R8810:Zdhhc17	UTSW	10	110,948,260 (GRCm38)	missense	possibly damaging	0.85
R9014:Zdhhc17	UTSW	10	110,949,683 (GRCm38)	missense	probably benign	0.22
R9028:Zdhhc17	UTSW	10	110,961,073 (GRCm38)	missense	probably damaging	0.97
R9147:Zdhhc17	UTSW	10	110,949,642 (GRCm38)	missense	possibly damaging	0.83
R9148:Zdhhc17	UTSW	10	110,949,642 (GRCm38)	missense	possibly damaging	0.83
R9160:Zdhhc17	UTSW	10	110,947,328 (GRCm38)	missense	probably damaging	0.98
R9186:Zdhhc17	UTSW	10	110,944,420 (GRCm38)	missense	probably benign	0.24
R9360:Zdhhc17	UTSW	10	110,947,304 (GRCm38)	missense	probably benign	0.00
Z1088:Zdhhc17	UTSW	10	110,945,466 (GRCm38)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGACTTTACCCTTGTAAGTCTTC -3'
(R):5'- GGGTTAGTAAAAGCTGTTGAAATACTG -3'

Sequencing Primer
(F):5'- ATAAGTTAAACATGAGTTTTGGGGG -3'
(R):5'- ACAAGTGTGATTCTAGCAACTTGGG -3'

Posted On

2019-12-20