Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:Zdhhc17'

30700

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc17

Ensembl Gene

ENSMUSG00000035798

Gene Name

zinc finger, DHHC domain containing 17

Synonyms

Hip14, A230053P19Rik, D130071N24Rik

MMRRC Submission

038581-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110777641-110846001 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 110817967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 58 (Y58*)

Gene Model

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

AlphaFold

Q80TN5

Predicted Effect

probably null
Transcript: ENSMUST00000041723
AA Change: Y70*

SMART Domains

Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: Y70*

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

noncoding transcript
Transcript: ENSMUST00000099285

SMART Domains

Protein: ENSMUSP00000096889
Gene: ENSMUSG00000035798

Domain	Start	End	E-Value	Type
ANK	79	108	6.71e-2	SMART
ANK	113	142	1.99e-4	SMART
ANK	146	175	1.61e-4	SMART
ANK	179	209	1.9e-1	SMART
ANK	214	243	1.53e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218981

Predicted Effect

probably benign
Transcript: ENSMUST00000219307

Predicted Effect

probably null
Transcript: ENSMUST00000220247
AA Change: Y58*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	T	A	11: 25,719,092 (GRCm39)	Y17F	unknown	Het
Aars2	A	G	17: 45,825,476 (GRCm39)	D313G	probably damaging	Het
Abca9	A	T	11: 110,006,273 (GRCm39)	D1277E	probably benign	Het
Adgrl1	G	T	8: 84,661,530 (GRCm39)	A981S	probably damaging	Het
Aff3	T	G	1: 38,244,021 (GRCm39)	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,816,994 (GRCm39)	H78L	probably benign	Het
Bltp1	C	T	3: 37,100,401 (GRCm39)	T4707I	probably damaging	Het
Cacna1g	C	A	11: 94,301,880 (GRCm39)	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,038,709 (GRCm39)		probably benign	Het
Carf	T	C	1: 60,183,161 (GRCm39)	V386A	probably damaging	Het
Cd46	A	G	1: 194,768,472 (GRCm39)	S82P	probably benign	Het
Clic5	A	G	17: 44,581,510 (GRCm39)	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,143,898 (GRCm39)	T529A	probably benign	Het
Col7a1	C	T	9: 108,809,305 (GRCm39)	R2627C	unknown	Het
Cuzd1	G	A	7: 130,913,637 (GRCm39)		probably benign	Het
Cwc27	T	C	13: 104,944,331 (GRCm39)	D50G	possibly damaging	Het
Dhx38	A	G	8: 110,281,813 (GRCm39)	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,565,550 (GRCm39)	E834A	probably damaging	Het
Dsg4	A	G	18: 20,603,936 (GRCm39)	D801G	probably damaging	Het
Dtx1	T	C	5: 120,819,464 (GRCm39)	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,433,265 (GRCm39)	H116L	probably damaging	Het
Fbxw18	T	C	9: 109,517,907 (GRCm39)	I360V	possibly damaging	Het
Fignl2	G	A	15: 100,951,974 (GRCm39)	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196 (GRCm39)	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,727,200 (GRCm39)	C545*	probably null	Het
Gm3336	A	G	8: 71,171,294 (GRCm39)		probably benign	Het
Gpr37	T	C	6: 25,669,290 (GRCm39)	N518S	probably benign	Het
Hbs1l	T	A	10: 21,218,440 (GRCm39)	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,523,064 (GRCm39)	S247R	probably benign	Het
Ifnb1	A	T	4: 88,440,981 (GRCm39)	F11I	probably benign	Het
Marf1	T	C	16: 13,969,184 (GRCm39)		probably benign	Het
Myo1f	T	A	17: 33,820,930 (GRCm39)	V879E	probably benign	Het
Naip1	A	G	13: 100,545,656 (GRCm39)	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,382,586 (GRCm39)	E529G	probably damaging	Het
Npm3	T	C	19: 45,736,668 (GRCm39)	E157G	probably damaging	Het
Or10x4	A	G	1: 174,218,775 (GRCm39)	T47A	probably damaging	Het
Or4a67	T	A	2: 88,597,985 (GRCm39)	T225S	possibly damaging	Het
Or4a68	G	T	2: 89,269,740 (GRCm39)	N294K	probably benign	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,636,286 (GRCm39)	V768A	probably benign	Het
Prrc1	A	G	18: 57,495,564 (GRCm39)	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,313,105 (GRCm39)	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,811,121 (GRCm39)	V181F	probably damaging	Het
Ror2	T	C	13: 53,286,040 (GRCm39)	N58S	probably damaging	Het
Selplg	G	A	5: 113,958,069 (GRCm39)	T79I	probably damaging	Het
Setd1b	G	A	5: 123,295,500 (GRCm39)	G1023S	unknown	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Skint5	A	G	4: 113,562,793 (GRCm39)	V803A	unknown	Het
Slc25a46	T	C	18: 31,716,319 (GRCm39)	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,657,935 (GRCm39)	I101K	possibly damaging	Het
Spag17	C	A	3: 99,934,906 (GRCm39)	T704K	probably benign	Het
Tas2r144	T	A	6: 42,193,058 (GRCm39)	M266K	possibly damaging	Het
Tasor2	A	G	13: 3,646,842 (GRCm39)	V61A	possibly damaging	Het
Tbc1d31	T	A	15: 57,818,746 (GRCm39)	L783H	probably benign	Het
Tbck	C	A	3: 132,456,993 (GRCm39)		probably benign	Het
Vcan	A	G	13: 89,839,394 (GRCm39)	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,367,987 (GRCm39)	N158K	probably damaging	Het
Vmn2r103	T	A	17: 20,013,121 (GRCm39)	Y81N	probably benign	Het
Vmn2r103	A	G	17: 20,013,726 (GRCm39)	T173A	probably benign	Het
Ylpm1	T	G	12: 85,061,754 (GRCm39)	S552A	unknown	Het

Other mutations in Zdhhc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Zdhhc17	APN	10	110,782,054 (GRCm39)	missense	probably damaging	1.00
IGL01812:Zdhhc17	APN	10	110,784,078 (GRCm39)	missense	possibly damaging	0.93
IGL01948:Zdhhc17	APN	10	110,782,137 (GRCm39)	missense	possibly damaging	0.56
IGL02002:Zdhhc17	APN	10	110,803,550 (GRCm39)	missense	probably benign
IGL03263:Zdhhc17	APN	10	110,796,877 (GRCm39)	missense	probably damaging	1.00
R0153:Zdhhc17	UTSW	10	110,790,955 (GRCm39)	nonsense	probably null
R0436:Zdhhc17	UTSW	10	110,817,851 (GRCm39)	splice site	probably null
R1452:Zdhhc17	UTSW	10	110,790,936 (GRCm39)	missense	probably benign	0.04
R1496:Zdhhc17	UTSW	10	110,782,071 (GRCm39)	missense	probably damaging	0.99
R1528:Zdhhc17	UTSW	10	110,784,050 (GRCm39)	critical splice donor site	probably null
R1856:Zdhhc17	UTSW	10	110,783,154 (GRCm39)	splice site	probably null
R2119:Zdhhc17	UTSW	10	110,817,909 (GRCm39)	missense	possibly damaging	0.92
R3747:Zdhhc17	UTSW	10	110,780,281 (GRCm39)	missense	probably benign	0.24
R4900:Zdhhc17	UTSW	10	110,821,819 (GRCm39)	missense	possibly damaging	0.95
R5647:Zdhhc17	UTSW	10	110,809,694 (GRCm39)	missense	probably damaging	1.00
R5758:Zdhhc17	UTSW	10	110,780,256 (GRCm39)	makesense	probably null
R6228:Zdhhc17	UTSW	10	110,792,216 (GRCm39)	missense	probably benign	0.01
R6823:Zdhhc17	UTSW	10	110,790,972 (GRCm39)	missense	possibly damaging	0.91
R7172:Zdhhc17	UTSW	10	110,845,809 (GRCm39)	missense	possibly damaging	0.82
R7874:Zdhhc17	UTSW	10	110,817,978 (GRCm39)	missense	possibly damaging	0.93
R8353:Zdhhc17	UTSW	10	110,845,803 (GRCm39)	missense	probably benign	0.09
R8674:Zdhhc17	UTSW	10	110,785,540 (GRCm39)	missense	probably benign	0.25
R8676:Zdhhc17	UTSW	10	110,798,240 (GRCm39)	intron	probably benign
R8810:Zdhhc17	UTSW	10	110,784,121 (GRCm39)	missense	possibly damaging	0.85
R9014:Zdhhc17	UTSW	10	110,785,544 (GRCm39)	missense	probably benign	0.22
R9028:Zdhhc17	UTSW	10	110,796,934 (GRCm39)	missense	probably damaging	0.97
R9147:Zdhhc17	UTSW	10	110,785,503 (GRCm39)	missense	possibly damaging	0.83
R9148:Zdhhc17	UTSW	10	110,785,503 (GRCm39)	missense	possibly damaging	0.83
R9160:Zdhhc17	UTSW	10	110,783,189 (GRCm39)	missense	probably damaging	0.98
R9186:Zdhhc17	UTSW	10	110,780,281 (GRCm39)	missense	probably benign	0.24
R9360:Zdhhc17	UTSW	10	110,783,165 (GRCm39)	missense	probably benign	0.00
Z1088:Zdhhc17	UTSW	10	110,781,327 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGATACTTGGCAGCATAGTCAAGC -3'
(R):5'- AACAGTGTTGGTTCATGACGTTCTCT -3'

Sequencing Primer
(F):5'- GGAAAAGTACTCTACAGGACTTTACC -3'
(R):5'- acacaagtgtgattctagcaac -3'

Posted On

2013-04-24