Mutagenetix > Incidental Mutation

Incidental Mutation 'R8756:Zdhhc2'

664172

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc2

Ensembl Gene

ENSMUSG00000039470

Gene Name

zinc finger, DHHC domain containing 2

Synonyms

6430583A19Rik, 5730415P04Rik

MMRRC Submission

068597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40876526-40946178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40920551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 270 (V270E)

Ref Sequence

ENSEMBL: ENSMUSP00000041727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049389] [ENSMUST00000128166] [ENSMUST00000167766]

AlphaFold

P59267

Predicted Effect

probably damaging
Transcript: ENSMUST00000049389
AA Change: V270E

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

SMART Domains

Protein: ENSMUSP00000041727
Gene: ENSMUSG00000039470
AA Change: V270E

Domain	Start	End	E-Value	Type
transmembrane domain	16	38	N/A	INTRINSIC
Pfam:zf-DHHC	66	248	4.1e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128166
AA Change: V270E

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

SMART Domains

Protein: ENSMUSP00000123070
Gene: ENSMUSG00000039470
AA Change: V270E

Domain	Start	End	E-Value	Type
transmembrane domain	16	38	N/A	INTRINSIC
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:zf-DHHC	122	248	1.8e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167766
AA Change: V270E

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

SMART Domains

Protein: ENSMUSP00000129996
Gene: ENSMUSG00000039470
AA Change: V270E

Domain	Start	End	E-Value	Type
transmembrane domain	16	38	N/A	INTRINSIC
Pfam:zf-DHHC	66	248	4.1e-43	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr1	A	T	6: 87,165,235 (GRCm39)	S401T	probably damaging	Het
Armh1	T	A	4: 117,094,861 (GRCm39)	I60L	probably benign	Het
Atp8b5	T	C	4: 43,342,439 (GRCm39)	V370A	probably damaging	Het
Atraid	T	A	5: 31,211,385 (GRCm39)	Y184N	probably damaging	Het
Cp	G	C	3: 20,059,736 (GRCm39)		probably null	Het
Crebbp	A	G	16: 3,903,767 (GRCm39)	I1824T	probably benign	Het
Cyp2c65	A	T	19: 39,049,552 (GRCm39)	R27*	probably null	Het
Dtl	T	C	1: 191,271,371 (GRCm39)	H725R	probably benign	Het
Dync1h1	G	T	12: 110,583,261 (GRCm39)	A453S	probably benign	Het
Fat3	T	A	9: 16,287,885 (GRCm39)	D546V	probably damaging	Het
Flt1	T	C	5: 147,576,224 (GRCm39)	T595A	probably benign	Het
Gtf2ird2	C	T	5: 134,226,090 (GRCm39)	P179S	possibly damaging	Het
Hoga1	A	G	19: 42,048,716 (GRCm39)	I145V	probably benign	Het
Igfn1	G	T	1: 135,895,698 (GRCm39)	Q1623K	probably benign	Het
Jsrp1	T	A	10: 80,647,940 (GRCm39)		probably null	Het
Krt90	A	C	15: 101,470,779 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,808,810 (GRCm39)	S514T	probably benign	Het
Mad2l1	T	C	6: 66,512,569 (GRCm39)	V20A	probably damaging	Het
Malrd1	T	C	2: 15,757,706 (GRCm39)		probably null	Het
Matn2	A	C	15: 34,423,876 (GRCm39)	E578A	possibly damaging	Het
Myof	A	T	19: 37,928,400 (GRCm39)	W1050R	probably benign	Het
Nemp1	T	A	10: 127,528,845 (GRCm39)	I183N	probably benign	Het
Nid1	A	G	13: 13,683,386 (GRCm39)	T1155A	probably benign	Het
Nsd1	T	C	13: 55,461,506 (GRCm39)	S2681P	probably benign	Het
Onecut3	C	A	10: 80,349,750 (GRCm39)	R415S	probably damaging	Het
Or2d2	T	C	7: 106,728,019 (GRCm39)	T194A	probably benign	Het
Or4s2	T	A	2: 88,473,183 (GRCm39)	V24E	possibly damaging	Het
Pclo	T	A	5: 14,764,398 (GRCm39)	S1005R		Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
R3hcc1l	G	A	19: 42,552,073 (GRCm39)	V357M	probably damaging	Het
Sec63	C	T	10: 42,686,905 (GRCm39)	T475M	possibly damaging	Het
Serpinh1	A	G	7: 98,996,359 (GRCm39)	Y242H	probably damaging	Het
Slit2	G	T	5: 48,459,829 (GRCm39)	E1370*	probably null	Het
Sos2	C	A	12: 69,695,310 (GRCm39)	L142F	probably damaging	Het
Spag4	T	C	2: 155,908,493 (GRCm39)	L141P	possibly damaging	Het
Sun1	T	C	5: 139,222,444 (GRCm39)	L570P	probably damaging	Het
Tars2	A	G	3: 95,648,672 (GRCm39)	V662A	probably benign	Het
Tmem245	C	A	4: 56,899,025 (GRCm39)		probably null	Het
Tpp2	T	A	1: 43,999,295 (GRCm39)	Y356*	probably null	Het
Trafd1	T	C	5: 121,513,878 (GRCm39)	E303G	probably damaging	Het
Trim71	T	C	9: 114,342,605 (GRCm39)	E559G	possibly damaging	Het
Ush2a	T	A	1: 188,644,141 (GRCm39)	V4501E	possibly damaging	Het
Vegfa	T	C	17: 46,342,465 (GRCm39)	T118A	probably damaging	Het
Vmn2r124	A	T	17: 18,294,094 (GRCm39)	H727L	probably benign	Het
Zfp112	T	C	7: 23,824,997 (GRCm39)	S326P	probably benign	Het
Zfp37	T	C	4: 62,110,371 (GRCm39)	D272G	possibly damaging	Het

Other mutations in Zdhhc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:Zdhhc2	APN	8	40,920,460 (GRCm39)	splice site	probably benign
IGL01751:Zdhhc2	APN	8	40,926,042 (GRCm39)	missense	probably benign
IGL01752:Zdhhc2	APN	8	40,926,042 (GRCm39)	missense	probably benign
IGL01800:Zdhhc2	APN	8	40,917,284 (GRCm39)	missense	probably damaging	1.00
IGL02475:Zdhhc2	APN	8	40,926,066 (GRCm39)	missense	probably null	1.00
IGL02554:Zdhhc2	APN	8	40,915,155 (GRCm39)	missense	probably damaging	1.00
R0662:Zdhhc2	UTSW	8	40,900,139 (GRCm39)	missense	probably damaging	1.00
R0720:Zdhhc2	UTSW	8	40,925,948 (GRCm39)	splice site	probably null
R1511:Zdhhc2	UTSW	8	40,921,013 (GRCm39)	missense	probably benign	0.00
R4738:Zdhhc2	UTSW	8	40,917,183 (GRCm39)	splice site	probably null
R5114:Zdhhc2	UTSW	8	40,898,825 (GRCm39)	missense	probably benign	0.06
R5935:Zdhhc2	UTSW	8	40,917,277 (GRCm39)	missense	probably damaging	0.96
R6029:Zdhhc2	UTSW	8	40,925,968 (GRCm39)	missense	probably null
R7210:Zdhhc2	UTSW	8	40,920,480 (GRCm39)	missense	probably damaging	0.96
R7792:Zdhhc2	UTSW	8	40,900,182 (GRCm39)	missense	probably benign	0.02
R8805:Zdhhc2	UTSW	8	40,898,846 (GRCm39)	critical splice donor site	probably null
R9142:Zdhhc2	UTSW	8	40,920,563 (GRCm39)	missense	probably damaging	1.00
R9677:Zdhhc2	UTSW	8	40,909,712 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGACAACTCCCGGGAGATG -3'
(R):5'- GGAACAGCCATCACCTTGACTG -3'

Sequencing Primer
(F):5'- CAGTTGTTGGAGTTCCCCC -3'
(R):5'- TCAGGATATCTGATAGGTGACCCC -3'

Posted On

2021-03-08