Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02887:Zdhhc21'

363822

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zdhhc21

Ensembl Gene

ENSMUSG00000028403

Gene Name

zinc finger, DHHC domain containing 21

Synonyms

9130404H11Rik, D130004H04Rik, dep

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL02887

Quality Score

Status

Chromosome

Chromosomal Location

82798738-82859958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82844190 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 56 (I56N)

Ref Sequence

ENSEMBL: ENSMUSP00000121954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030110] [ENSMUST00000107239] [ENSMUST00000139401] [ENSMUST00000156055] [ENSMUST00000173741]

Predicted Effect

probably benign
Transcript: ENSMUST00000030110
AA Change: I56N

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030110
Gene: ENSMUSG00000028403
AA Change: I56N

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	43	58	N/A	INTRINSIC
Pfam:zf-DHHC	61	217	5.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107239
AA Change: I56N

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102859
Gene: ENSMUSG00000028403
AA Change: I56N

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	45	65	N/A	INTRINSIC
Pfam:zf-DHHC	85	218	3.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139401
AA Change: I56N

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121954
Gene: ENSMUSG00000028403
AA Change: I56N

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	43	58	N/A	INTRINSIC
Pfam:zf-DHHC	61	110	3e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144139

Predicted Effect

probably benign
Transcript: ENSMUST00000156055

Predicted Effect

probably benign
Transcript: ENSMUST00000173741
AA Change: I56N

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133630
Gene: ENSMUSG00000028403
AA Change: I56N

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	43	58	N/A	INTRINSIC
Pfam:zf-DHHC	61	125	1.5e-16	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutants of this epidermal acting gene have thin, short hair, many misshapen and disoriented hair follicles, and clumps of pigment reflecting remains of degenerating follicles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,258,885	Y69H	probably damaging	Het
Afap1l2	A	T	19: 56,920,563	S310R	probably damaging	Het
Aldh7a1	A	G	18: 56,542,216		probably benign	Het
Anxa8	T	A	14: 34,096,524		probably null	Het
Ap1ar	T	C	3: 127,808,543	E282G	probably damaging	Het
Arl6ip6	T	G	2: 53,202,927	S155A	probably benign	Het
Armc9	T	C	1: 86,164,835	F107S	probably damaging	Het
Ash1l	C	A	3: 88,984,181	D1122E	probably benign	Het
Atp2b4	T	A	1: 133,728,774	I713F	probably damaging	Het
BC005624	A	C	2: 30,973,305		probably benign	Het
Calcrl	T	C	2: 84,339,242	D365G	probably benign	Het
Ccdc110	A	G	8: 45,943,184	N704S	probably benign	Het
Ccr10	G	T	11: 101,174,666	L13I	probably benign	Het
Cfap52	A	G	11: 67,953,515	Y125H	probably damaging	Het
Cnr2	C	A	4: 135,917,625	T338K	possibly damaging	Het
Cntn2	T	A	1: 132,516,570	D935V	probably damaging	Het
Cog7	T	C	7: 121,943,844	K448R	possibly damaging	Het
Csnk1g2	G	A	10: 80,638,535	D197N	probably damaging	Het
Cyp2e1	T	A	7: 140,763,911	S21T	probably damaging	Het
Dcaf11	T	C	14: 55,564,135	F187L	probably damaging	Het
Dmd	T	A	X: 83,878,504	F1460Y	probably benign	Het
Dnah11	G	A	12: 117,911,040	A4030V	probably damaging	Het
Dnah7a	A	G	1: 53,522,360	V2046A	possibly damaging	Het
Dnajc6	T	C	4: 101,639,300	I820T	probably damaging	Het
Dsel	T	C	1: 111,860,732	D691G	possibly damaging	Het
Fbp1	T	A	13: 62,869,080	M203L	probably benign	Het
Fndc1	T	C	17: 7,773,638	T409A	unknown	Het
Golgb1	T	G	16: 36,925,849	L2930R	probably damaging	Het
Htr2a	A	G	14: 74,645,143	T190A	probably benign	Het
Klra4	C	T	6: 130,044,070	C254Y	probably damaging	Het
Large1	A	T	8: 73,132,039	V67E	probably benign	Het
Lins1	T	C	7: 66,714,183	S609P	probably damaging	Het
Magi3	T	C	3: 104,095,157	E156G	probably damaging	Het
Mdh1b	A	G	1: 63,715,364		probably benign	Het
Mfsd6	T	C	1: 52,708,878	D276G	probably benign	Het
Myh9	T	A	15: 77,796,020	K185*	probably null	Het
Myof	T	C	19: 37,920,779		probably null	Het
Naip2	T	G	13: 100,161,512	Y672S	possibly damaging	Het
Nbeal1	A	G	1: 60,287,444		probably benign	Het
Nbeal2	T	A	9: 110,628,276	H2273L	probably damaging	Het
Neb	T	C	2: 52,200,721	K1346E	possibly damaging	Het
Nfatc2	T	C	2: 168,504,450	D908G	probably damaging	Het
Nlgn2	T	C	11: 69,827,254	N375S	probably benign	Het
Nova1	G	T	12: 46,720,722	Q139K	unknown	Het
Olfr328	A	G	11: 58,552,161	L26P	probably damaging	Het
Olfr775	T	A	10: 129,250,925	Y130*	probably null	Het
Olfr978	T	A	9: 39,993,813	M1K	probably null	Het
Opa3	A	T	7: 19,228,582	Q47L	probably damaging	Het
Pacs1	A	T	19: 5,135,110		probably benign	Het
Pappa2	T	A	1: 158,782,259	H1544L	probably damaging	Het
Pax8	A	G	2: 24,444,615	S48P	probably damaging	Het
Pdilt	T	C	7: 119,498,049	N70S	possibly damaging	Het
Poldip3	T	C	15: 83,129,268		probably benign	Het
Ppp6r1	T	A	7: 4,642,212	I80F	probably damaging	Het
Pycr2	T	A	1: 180,904,739		probably null	Het
Rapgef2	C	T	3: 79,068,880		probably benign	Het
Rbm44	T	A	1: 91,153,180	D363E	probably damaging	Het
Rnf213	A	T	11: 119,427,510	I1046F	probably damaging	Het
Ryr2	A	G	13: 11,591,269	S4476P	probably damaging	Het
Scara5	G	A	14: 65,762,829	D483N	unknown	Het
Scmh1	T	A	4: 120,468,389	F101Y	probably damaging	Het
Sgo2a	T	A	1: 58,016,352	V565E	probably damaging	Het
Simc1	T	C	13: 54,525,258	M473T	probably benign	Het
Skint6	T	A	4: 113,238,184	R93*	probably null	Het
Skint7	T	C	4: 111,982,178	V223A	possibly damaging	Het
Slc25a2	T	C	18: 37,637,886	I197V	probably benign	Het
Slit2	A	G	5: 48,217,474	T361A	probably benign	Het
Sugp1	G	A	8: 70,070,126	G492D	probably damaging	Het
Svep1	C	T	4: 58,145,301	G388D	probably damaging	Het
Tbpl2	G	T	2: 24,093,876	A183E	probably damaging	Het
Tcerg1l	G	T	7: 138,229,890	P453T	probably damaging	Het
Tdpoz2	T	C	3: 93,651,739	T309A	probably benign	Het
Thbs4	T	A	13: 92,790,798	Y61F	probably benign	Het
Tmem117	C	A	15: 95,094,775	P439T	probably damaging	Het
Tmem151a	A	G	19: 5,082,965	V71A	probably benign	Het
Tmem268	G	T	4: 63,568,454		probably benign	Het
Tmem43	T	A	6: 91,477,374	Y48N	possibly damaging	Het
Tmigd1	T	C	11: 76,913,986	V217A	probably benign	Het
Tmprss11g	A	T	5: 86,497,329		probably benign	Het
Tsn	T	C	1: 118,309,821	I38V	probably benign	Het
Ttc41	A	T	10: 86,733,654	Y632F	probably damaging	Het
Vmn2r117	C	T	17: 23,475,578		probably benign	Het
Vmn2r12	A	T	5: 109,090,485	I463N	probably benign	Het
Wdsub1	T	A	2: 59,852,832	N466I	probably damaging	Het
Zfand4	A	G	6: 116,273,656	T16A	possibly damaging	Het
Zmym4	T	C	4: 126,948,475	E15G	probably damaging	Het

Other mutations in Zdhhc21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03172:Zdhhc21	APN	4	82806327	utr 3 prime	probably benign
R4393:Zdhhc21	UTSW	4	82847654	missense	possibly damaging	0.90
R4701:Zdhhc21	UTSW	4	82820334	missense	possibly damaging	0.92
R4910:Zdhhc21	UTSW	4	82820331	missense	possibly damaging	0.68
R5288:Zdhhc21	UTSW	4	82847692	missense	probably damaging	1.00
R5339:Zdhhc21	UTSW	4	82838313	missense	probably damaging	1.00
R6363:Zdhhc21	UTSW	4	82847674	missense	probably damaging	1.00
R8435:Zdhhc21	UTSW	4	82835477	missense	probably damaging	0.99

Posted On

2015-12-18