Mutagenetix > Incidental Mutation

Incidental Mutation 'R9028:Zdhhc17'

686879

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc17

Ensembl Gene

ENSMUSG00000035798

Gene Name

zinc finger, DHHC domain containing 17

Synonyms

Hip14, A230053P19Rik, D130071N24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110941780-111010140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110961073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 279 (E279G)

Ref Sequence

ENSEMBL: ENSMUSP00000043279 (fasta)

Gene Model

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

AlphaFold

Q80TN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000041723
AA Change: E279G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: E279G

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: ENSMUST00000218895

Predicted Effect

probably benign
Transcript: ENSMUST00000220247

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	G	A	3: 108,463,503	T687I	probably benign	Het
Aasdh	A	G	5: 76,876,130	V1066A	probably damaging	Het
Abca5	T	A	11: 110,298,078	H851L	probably damaging	Het
Actn2	T	C	13: 12,300,978	I218M	possibly damaging	Het
Afmid	G	A	11: 117,836,663	E338K	probably benign	Het
Amer3	G	A	1: 34,588,677	V666I	probably benign	Het
Apol7b	A	G	15: 77,423,416	V293A	probably damaging	Het
Bag6	T	A	17: 35,144,154	S657T	probably benign	Het
Btaf1	T	C	19: 36,969,108	L438P	probably damaging	Het
Cdc20	T	C	4: 118,436,560	E126G	probably benign	Het
Cep97	C	T	16: 55,919,552	W248*	probably null	Het
Cfap69	A	T	5: 5,646,958	S113T	probably benign	Het
Cgrrf1	C	A	14: 46,853,743	D241E	probably benign	Het
Cnksr1	T	C	4: 134,233,297	T280A	possibly damaging	Het
Cox4i1	T	A	8: 120,671,283		probably benign	Het
Cpm	T	A	10: 117,683,509	F441I	probably benign	Het
Cs	A	C	10: 128,353,083	M154L		Het
Dmrta1	T	A	4: 89,691,677	N291K	probably damaging	Het
Dnah7a	T	C	1: 53,521,138	T2125A	probably benign	Het
Dock10	A	T	1: 80,606,295		probably benign	Het
Dok7	A	G	5: 35,079,475	Y369C	probably damaging	Het
E130311K13Rik	T	C	3: 63,915,548	Y225C	probably damaging	Het
F7	T	C	8: 13,026,087	L10P	possibly damaging	Het
Faf1	C	A	4: 109,890,908	T470K	possibly damaging	Het
Fam83h	A	T	15: 76,003,889	L533Q	possibly damaging	Het
Far1	T	A	7: 113,547,422	V129E	probably damaging	Het
Fgfr4	T	C	13: 55,159,154	Y219H	probably damaging	Het
Fryl	A	T	5: 73,098,266	S807R	probably benign	Het
Gaa	T	A	11: 119,270,381	D83E	probably benign	Het
Gm6970	T	C	19: 47,170,690	K149E	unknown	Het
Grm2	A	G	9: 106,651,185	S167P	possibly damaging	Het
Hibch	T	C	1: 52,853,709	L26P	possibly damaging	Het
Hspa9	T	C	18: 34,942,031	E415G	probably damaging	Het
Ipo4	T	C	14: 55,628,951	Y757C	probably damaging	Het
Itk	T	A	11: 46,344,883		probably benign	Het
Kdm5a	C	T	6: 120,439,131	P1671S	probably benign	Het
Kif13a	G	A	13: 46,798,365	P811S	probably damaging	Het
Kif23	T	C	9: 61,921,059	E857G	probably damaging	Het
Kif2b	A	G	11: 91,577,185	S91P	probably benign	Het
Letm1	G	T	5: 33,752,503	Q396K	probably damaging	Het
Map2k6	T	A	11: 110,497,973	M247K		Het
Mga	A	G	2: 119,947,589	I1872V	probably benign	Het
Mmp15	A	T	8: 95,369,688	N369I	probably benign	Het
Myo3a	T	A	2: 22,600,087	S1487T	possibly damaging	Het
Ncam1	T	C	9: 49,507,436	T855A		Het
Ncoa2	A	G	1: 13,152,855	V1182A	probably benign	Het
Nhlrc3	A	T	3: 53,453,571	C254*	probably null	Het
Nlrp1a	C	T	11: 71,122,993	R477H	probably benign	Het
Nox3	T	A	17: 3,665,910	T407S	possibly damaging	Het
Olfr1229	T	A	2: 89,282,332	D267V	probably damaging	Het
Olfr1375	C	T	11: 51,048,833	T242M	probably damaging	Het
Olfr411	T	C	11: 74,346,921	Y101C	probably damaging	Het
Pfkp	T	A	13: 6,605,689	I303F	probably damaging	Het
Pgc	T	C	17: 47,733,058	Y292H	possibly damaging	Het
Phtf2	A	G	5: 20,794,375	Y257H	probably benign	Het
Pkdrej	T	C	15: 85,816,897	N1613D	probably damaging	Het
Prpmp5	C	T	6: 132,312,655	E69K	unknown	Het
Rapgef2	A	G	3: 79,074,344	S1115P	probably damaging	Het
Rbpj	A	G	5: 53,649,690	E260G	possibly damaging	Het
Rrm1	T	A	7: 102,460,398	N476K	probably damaging	Het
Slc9a2	T	A	1: 40,726,452	I334N	probably damaging	Het
Slk	T	G	19: 47,620,073	N488K	probably benign	Het
Smarca5	T	C	8: 80,714,013	I607M	probably damaging	Het
Sspo	G	A	6: 48,496,153	V162M	probably benign	Het
Svep1	T	G	4: 58,145,199	Q422P	possibly damaging	Het
Tcn2	C	T	11: 3,922,111	V339I	probably damaging	Het
Tnfrsf19	T	C	14: 61,005,201	H78R	probably benign	Het
Trav14-3	C	A	14: 53,763,430	Q33K	unknown	Het
Ubtd2	T	C	11: 32,499,432	I93T	possibly damaging	Het
Uhrf2	G	A	19: 30,089,344		probably null	Het
Vmn1r224	T	G	17: 20,419,850	S230A	possibly damaging	Het
Wee2	A	T	6: 40,444,255	H93L	probably benign	Het
Zfp623	T	A	15: 75,947,500	F102I	probably damaging	Het
Zfpm2	A	C	15: 41,103,362	E1081A	possibly damaging	Het
Zscan18	A	T	7: 12,772,189		probably benign	Het

Other mutations in Zdhhc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Zdhhc17	APN	10	110946193	missense	probably damaging	1.00
IGL01812:Zdhhc17	APN	10	110948217	missense	possibly damaging	0.93
IGL01948:Zdhhc17	APN	10	110946276	missense	possibly damaging	0.56
IGL02002:Zdhhc17	APN	10	110967689	missense	probably benign
IGL03263:Zdhhc17	APN	10	110961016	missense	probably damaging	1.00
R0153:Zdhhc17	UTSW	10	110955094	nonsense	probably null
R0375:Zdhhc17	UTSW	10	110982106	nonsense	probably null
R0436:Zdhhc17	UTSW	10	110981990	splice site	probably null
R1452:Zdhhc17	UTSW	10	110955075	missense	probably benign	0.04
R1496:Zdhhc17	UTSW	10	110946210	missense	probably damaging	0.99
R1528:Zdhhc17	UTSW	10	110948189	critical splice donor site	probably null
R1856:Zdhhc17	UTSW	10	110947293	splice site	probably null
R2119:Zdhhc17	UTSW	10	110982048	missense	possibly damaging	0.92
R3747:Zdhhc17	UTSW	10	110944420	missense	probably benign	0.24
R4900:Zdhhc17	UTSW	10	110985958	missense	possibly damaging	0.95
R5647:Zdhhc17	UTSW	10	110973833	missense	probably damaging	1.00
R5758:Zdhhc17	UTSW	10	110944395	makesense	probably null
R6228:Zdhhc17	UTSW	10	110956355	missense	probably benign	0.01
R6823:Zdhhc17	UTSW	10	110955111	missense	possibly damaging	0.91
R7172:Zdhhc17	UTSW	10	111009948	missense	possibly damaging	0.82
R7874:Zdhhc17	UTSW	10	110982117	missense	possibly damaging	0.93
R8353:Zdhhc17	UTSW	10	111009942	missense	probably benign	0.09
R8674:Zdhhc17	UTSW	10	110949679	missense	probably benign	0.25
R8676:Zdhhc17	UTSW	10	110962379	intron	probably benign
R8810:Zdhhc17	UTSW	10	110948260	missense	possibly damaging	0.85
R9014:Zdhhc17	UTSW	10	110949683	missense	probably benign	0.22
R9147:Zdhhc17	UTSW	10	110949642	missense	possibly damaging	0.83
R9148:Zdhhc17	UTSW	10	110949642	missense	possibly damaging	0.83
R9160:Zdhhc17	UTSW	10	110947328	missense	probably damaging	0.98
R9186:Zdhhc17	UTSW	10	110944420	missense	probably benign	0.24
R9360:Zdhhc17	UTSW	10	110947304	missense	probably benign	0.00
Z1088:Zdhhc17	UTSW	10	110945466	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCGCGGGCCATAAGTAATTC -3'
(R):5'- CTGATCCAGCAGGTACTAAAATACC -3'

Sequencing Primer
(F):5'- CGGGCCATAAGTAATTCTAAGAAAC -3'
(R):5'- ACTCAATGTCAGAAACTTGTTGATG -3'

Posted On

2021-11-19