Mutagenetix > Incidental Mutation

Incidental Mutation 'R8416:Zdhhc23'

652969

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc23

Ensembl Gene

ENSMUSG00000036304

Gene Name

zinc finger, DHHC domain containing 23

Synonyms

LOC385651, LOC332175

MMRRC Submission

067770-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8416 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43785396-43800154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43791927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 282 (I282K)

Ref Sequence

ENSEMBL: ENSMUSP00000128650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036321] [ENSMUST00000165648] [ENSMUST00000231700] [ENSMUST00000232055]

AlphaFold

Q5Y5T3

Predicted Effect

probably benign
Transcript: ENSMUST00000036321

SMART Domains

Protein: ENSMUSP00000044744
Gene: ENSMUSG00000036304

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
transmembrane domain	82	99	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	132	151	N/A	INTRINSIC
Pfam:zf-DHHC	175	378	3.8e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165648
AA Change: I282K

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

SMART Domains

Protein: ENSMUSP00000128650
Gene: ENSMUSG00000036304
AA Change: I282K

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
transmembrane domain	82	99	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	132	151	N/A	INTRINSIC
transmembrane domain	161	180	N/A	INTRINSIC
Pfam:zf-DHHC	244	378	8.4e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000231700
AA Change: I282K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232055

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,369,023 (GRCm39)	N173S	probably benign	Het
Agps	A	G	2: 75,684,547 (GRCm39)	I172V	probably benign	Het
Amz1	G	A	5: 140,737,731 (GRCm39)	W330*	probably null	Het
Asap1	A	T	15: 64,002,072 (GRCm39)	M413K	possibly damaging	Het
Bhmt1b	T	C	18: 87,774,687 (GRCm39)	V70A	probably damaging	Het
Ccdc83	A	T	7: 89,885,513 (GRCm39)	W291R	unknown	Het
Cdh19	A	T	1: 110,853,610 (GRCm39)	M277K	probably benign	Het
Clca3a1	C	A	3: 144,460,914 (GRCm39)		probably null	Het
Cnpy1	T	C	5: 28,408,423 (GRCm39)	T138A	probably benign	Het
Csnka2ip	T	C	16: 64,300,295 (GRCm39)	D23G		Het
Cxcr5	A	T	9: 44,425,583 (GRCm39)	F25I	probably benign	Het
Defb33	T	A	8: 21,387,651 (GRCm39)	*63R	probably null	Het
Dgkz	A	T	2: 91,770,649 (GRCm39)	S485T	possibly damaging	Het
Elac1	A	G	18: 73,871,927 (GRCm39)	I356T	probably damaging	Het
Fam135a	C	T	1: 24,067,675 (GRCm39)	D1065N	probably benign	Het
Fbxo10	T	A	4: 45,058,942 (GRCm39)	D265V	possibly damaging	Het
Flrt2	A	G	12: 95,746,331 (GRCm39)	E223G	probably benign	Het
Gjc2	A	T	11: 59,068,334 (GRCm39)	D49E	probably damaging	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Irf2	A	T	8: 47,271,887 (GRCm39)	Y158F	probably benign	Het
Jmy	T	C	13: 93,634,949 (GRCm39)	D289G	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Limch1	T	G	5: 67,156,649 (GRCm39)	I372S	probably benign	Het
Lsm11	A	T	11: 45,824,730 (GRCm39)	W266R	probably benign	Het
Mboat2	G	A	12: 24,984,609 (GRCm39)	E147K	probably damaging	Het
Mctp2	T	C	7: 71,852,210 (GRCm39)	I439V	probably benign	Het
Npc2	A	G	12: 84,812,131 (GRCm39)	V37A	probably damaging	Het
Or2t29	A	T	11: 58,433,778 (GRCm39)	S188T	possibly damaging	Het
Or5b119	A	T	19: 13,456,764 (GRCm39)	M266K	possibly damaging	Het
Parp4	T	C	14: 56,825,271 (GRCm39)		probably null	Het
Pcdhga2	A	T	18: 37,803,178 (GRCm39)	N341Y	probably damaging	Het
Pde1b	G	A	15: 103,423,745 (GRCm39)		probably benign	Het
Pde1c	C	T	6: 56,128,276 (GRCm39)		probably null	Het
Plce1	G	A	19: 38,761,441 (GRCm39)	V2098I	possibly damaging	Het
Pou2f2	G	T	7: 24,815,551 (GRCm39)	S72*	probably null	Het
Ptpru	C	T	4: 131,535,783 (GRCm39)	R398H	probably damaging	Het
Rps15	A	G	10: 80,128,624 (GRCm39)	K7E	probably benign	Het
Rtn4rl2	C	T	2: 84,702,951 (GRCm39)	G207D	probably damaging	Het
Scn2a	A	C	2: 65,511,345 (GRCm39)	L130F	probably benign	Het
Sh3tc1	G	A	5: 35,868,256 (GRCm39)	R403W	probably damaging	Het
Slc7a9	A	G	7: 35,152,858 (GRCm39)	K92R	probably benign	Het
Slit3	A	T	11: 35,399,062 (GRCm39)	E142D	probably benign	Het
Srpk1	A	G	17: 28,813,229 (GRCm39)	I505T	probably damaging	Het
Sult1c2	A	T	17: 54,269,580 (GRCm39)	I216K	probably benign	Het
Susd6	T	A	12: 80,897,997 (GRCm39)	M44K	probably benign	Het
Thoc5	T	A	11: 4,876,068 (GRCm39)	V607E	probably benign	Het
Tiparp	A	G	3: 65,438,767 (GRCm39)	R28G	probably benign	Het
Tln1	C	T	4: 43,540,116 (GRCm39)	V1498I	probably benign	Het
Tmprss11c	T	G	5: 86,387,276 (GRCm39)	Q214P	probably damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Wdr11	G	A	7: 129,232,403 (GRCm39)	S937N	possibly damaging	Het
Zfp488	A	G	14: 33,693,052 (GRCm39)	M37T	probably benign	Het
Zmpste24	T	C	4: 120,940,556 (GRCm39)	S142G	probably benign	Het

Other mutations in Zdhhc23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Zdhhc23	APN	16	43,793,843 (GRCm39)	missense	probably damaging	1.00
R0179:Zdhhc23	UTSW	16	43,794,066 (GRCm39)	missense	probably benign	0.06
R0180:Zdhhc23	UTSW	16	43,794,066 (GRCm39)	missense	probably benign	0.06
R1367:Zdhhc23	UTSW	16	43,794,513 (GRCm39)	missense	probably benign	0.04
R1557:Zdhhc23	UTSW	16	43,791,829 (GRCm39)	missense	possibly damaging	0.63
R1997:Zdhhc23	UTSW	16	43,799,305 (GRCm39)	missense	probably damaging	1.00
R2035:Zdhhc23	UTSW	16	43,793,871 (GRCm39)	missense	probably damaging	1.00
R2153:Zdhhc23	UTSW	16	43,794,282 (GRCm39)	missense	probably benign	0.03
R2497:Zdhhc23	UTSW	16	43,794,278 (GRCm39)	missense	probably damaging	1.00
R3432:Zdhhc23	UTSW	16	43,794,533 (GRCm39)	splice site	probably benign
R4776:Zdhhc23	UTSW	16	43,793,952 (GRCm39)	missense	possibly damaging	0.79
R5067:Zdhhc23	UTSW	16	43,794,134 (GRCm39)	missense	probably benign	0.00
R7086:Zdhhc23	UTSW	16	43,791,873 (GRCm39)	missense	probably damaging	0.98
R7840:Zdhhc23	UTSW	16	43,791,907 (GRCm39)	missense	possibly damaging	0.93
R7876:Zdhhc23	UTSW	16	43,789,663 (GRCm39)	missense	probably damaging	0.98
R8843:Zdhhc23	UTSW	16	43,794,227 (GRCm39)	missense	probably damaging	0.99
R9394:Zdhhc23	UTSW	16	43,791,826 (GRCm39)	missense	probably damaging	1.00
R9491:Zdhhc23	UTSW	16	43,794,062 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAACATTTATTACTTTGTCGCTGGC -3'
(R):5'- TTTTGTCACGCAGTAGACAGG -3'

Sequencing Primer
(F):5'- TCCTGACAGAGGGTTGCACAAC -3'
(R):5'- CTGCAGTTCTTACTGTCG -3'

Posted On

2020-10-20