Mutagenetix > Incidental Mutation

Incidental Mutation 'R5956:Zdhhc4'

471177

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc4

Ensembl Gene

ENSMUSG00000001844

Gene Name

zinc finger, DHHC domain containing 4

Synonyms

1810021D01Rik, 2900029I10Rik

MMRRC Submission

044144-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143302244-143315007 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 143310604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001900] [ENSMUST00000159813] [ENSMUST00000159941] [ENSMUST00000161915] [ENSMUST00000162941] [ENSMUST00000162358] [ENSMUST00000162066]

AlphaFold

Q9D6H5

Predicted Effect

probably benign
Transcript: ENSMUST00000001900

SMART Domains

Protein: ENSMUSP00000001900
Gene: ENSMUSG00000001844

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
low complexity region	97	110	N/A	INTRINSIC
Pfam:zf-DHHC	112	294	5e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159718

Predicted Effect

probably benign
Transcript: ENSMUST00000159813

SMART Domains

Protein: ENSMUSP00000137935
Gene: ENSMUSG00000001844

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
low complexity region	97	110	N/A	INTRINSIC
Pfam:zf-DHHC	112	175	3.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159941

SMART Domains

Protein: ENSMUSP00000124026
Gene: ENSMUSG00000001844

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
low complexity region	97	110	N/A	INTRINSIC
Pfam:zf-DHHC	112	178	2.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198455

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162890

Predicted Effect

probably benign
Transcript: ENSMUST00000161915

SMART Domains

Protein: ENSMUSP00000124813
Gene: ENSMUSG00000001844

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
transmembrane domain	100	122	N/A	INTRINSIC
Pfam:zf-DHHC	144	294	9.7e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162941

SMART Domains

Protein: ENSMUSP00000124997
Gene: ENSMUSG00000001844

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
low complexity region	97	110	N/A	INTRINSIC
Pfam:zf-DHHC	112	176	4.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162358

SMART Domains

Protein: ENSMUSP00000124416
Gene: ENSMUSG00000001844

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
transmembrane domain	100	122	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162066

SMART Domains

Protein: ENSMUSP00000125130
Gene: ENSMUSG00000001844

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,203,893 (GRCm39)	I398K	possibly damaging	Het
Acad9	A	G	3: 36,129,323 (GRCm39)		probably benign	Het
Acsm2	T	C	7: 119,153,704 (GRCm39)	S5P	unknown	Het
Akp3	T	C	1: 87,054,667 (GRCm39)	I334T	probably damaging	Het
Amy1	C	T	3: 113,357,311 (GRCm39)	R176H	probably benign	Het
Ank2	A	T	3: 126,736,337 (GRCm39)		probably benign	Het
Cav1	C	A	6: 17,307,918 (GRCm39)	N23K	probably damaging	Het
Cep126	A	G	9: 8,112,120 (GRCm39)	V151A	probably benign	Het
Cnot1	A	G	8: 96,481,606 (GRCm39)		probably null	Het
Crim1	T	A	17: 78,623,146 (GRCm39)	V448E	probably damaging	Het
Csmd3	T	C	15: 48,655,278 (GRCm39)	E8G	possibly damaging	Het
Ddx31	A	T	2: 28,764,185 (GRCm39)	I464F	probably damaging	Het
Ddx54	A	G	5: 120,764,432 (GRCm39)		probably benign	Het
Dhx16	A	G	17: 36,193,762 (GRCm39)	E319G	probably damaging	Het
Efl1	A	G	7: 82,301,107 (GRCm39)	D37G	probably damaging	Het
Epha5	T	C	5: 84,298,228 (GRCm39)	R444G	probably damaging	Het
Exoc2	C	A	13: 31,004,606 (GRCm39)	C859F	probably benign	Het
Gbx2	T	C	1: 89,860,908 (GRCm39)		probably benign	Het
Gm12258	G	A	11: 58,750,285 (GRCm39)	A9T	probably benign	Het
Gpr141b	T	G	13: 19,913,300 (GRCm39)		noncoding transcript	Het
Grm4	A	G	17: 27,654,129 (GRCm39)	V607A	probably benign	Het
Gvin3	T	C	7: 106,200,677 (GRCm39)		noncoding transcript	Het
Ighv1-74	C	A	12: 115,766,455 (GRCm39)	W55L	probably damaging	Het
Irx4	C	A	13: 73,415,626 (GRCm39)	Y138*	probably null	Het
Itpr1	C	A	6: 108,482,988 (GRCm39)	T2352K	probably benign	Het
Kcnk3	T	G	5: 30,745,854 (GRCm39)	V65G	probably damaging	Het
Mctp2	T	C	7: 71,908,923 (GRCm39)	E130G	probably benign	Het
Mgat5	C	A	1: 127,310,676 (GRCm39)	R197S	probably benign	Het
Mpg	T	C	11: 32,177,951 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,417,910 (GRCm39)	C3619R	probably damaging	Het
Myo15b	G	A	11: 115,764,583 (GRCm39)	V1321I	probably benign	Het
Myo1b	T	C	1: 51,815,391 (GRCm39)	T658A	probably damaging	Het
Nomo1	T	C	7: 45,692,037 (GRCm39)	S154P	possibly damaging	Het
Nsd1	T	A	13: 55,411,217 (GRCm39)	F1423I	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or9g3	A	G	2: 85,584,183 (GRCm39)		probably benign	Het
Osbpl6	A	G	2: 76,379,856 (GRCm39)	R149G	probably damaging	Het
Pacc1	A	G	1: 191,080,568 (GRCm39)	S263G	probably damaging	Het
Papola	T	A	12: 105,777,300 (GRCm39)	W281R	probably damaging	Het
Pole	C	T	5: 110,485,153 (GRCm39)		probably benign	Het
Rptn	A	G	3: 93,305,334 (GRCm39)	N889S	possibly damaging	Het
Scn10a	A	G	9: 119,460,626 (GRCm39)	S1084P	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Siglece	T	C	7: 43,308,760 (GRCm39)	T198A	probably damaging	Het
Sptb	T	A	12: 76,650,942 (GRCm39)	M1678L	probably benign	Het
Taf8	A	T	17: 47,809,467 (GRCm39)	M98K	probably damaging	Het
Tead2	T	A	7: 44,870,138 (GRCm39)		probably benign	Het
Trrap	C	T	5: 144,744,201 (GRCm39)		silent	Het
Ttn	G	T	2: 76,775,914 (GRCm39)	N1709K	probably damaging	Het
Ube3a	T	C	7: 58,926,768 (GRCm39)		probably benign	Het
Ube3c	T	C	5: 29,804,054 (GRCm39)		probably benign	Het
Unc80	T	C	1: 66,567,123 (GRCm39)	S910P	probably damaging	Het
Usp30	G	A	5: 114,257,682 (GRCm39)	R280Q	possibly damaging	Het
Vsx1	T	C	2: 150,530,457 (GRCm39)	S142G	possibly damaging	Het
Wdr95	T	G	5: 149,517,947 (GRCm39)	C360G	probably benign	Het
Zbtb4	A	G	11: 69,669,040 (GRCm39)	I588V	probably benign	Het
Zfp568	C	A	7: 29,697,288 (GRCm39)	N69K	probably damaging	Het

Other mutations in Zdhhc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02686:Zdhhc4	APN	5	143,306,146 (GRCm39)	missense	probably damaging	1.00
R2022:Zdhhc4	UTSW	5	143,307,538 (GRCm39)	missense	probably damaging	1.00
R2138:Zdhhc4	UTSW	5	143,310,017 (GRCm39)	nonsense	probably null
R2228:Zdhhc4	UTSW	5	143,306,162 (GRCm39)	missense	probably damaging	0.98
R4298:Zdhhc4	UTSW	5	143,309,997 (GRCm39)	missense	probably damaging	0.96
R4305:Zdhhc4	UTSW	5	143,310,099 (GRCm39)	intron	probably benign
R4722:Zdhhc4	UTSW	5	143,307,536 (GRCm39)	missense	probably damaging	1.00
R4773:Zdhhc4	UTSW	5	143,311,931 (GRCm39)	missense	possibly damaging	0.50
R5000:Zdhhc4	UTSW	5	143,310,688 (GRCm39)	missense	probably damaging	0.98
R5063:Zdhhc4	UTSW	5	143,302,377 (GRCm39)	missense	probably damaging	1.00
R5341:Zdhhc4	UTSW	5	143,311,915 (GRCm39)	missense	probably benign	0.01
R5945:Zdhhc4	UTSW	5	143,310,641 (GRCm39)	missense	probably damaging	1.00
R7284:Zdhhc4	UTSW	5	143,307,646 (GRCm39)	missense	probably benign	0.01
R7843:Zdhhc4	UTSW	5	143,306,031 (GRCm39)	missense	probably damaging	1.00
R7955:Zdhhc4	UTSW	5	143,307,619 (GRCm39)	missense	probably damaging	1.00
R8261:Zdhhc4	UTSW	5	143,307,588 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TGTGGGGACAGACTTCAGTG -3'
(R):5'- ACTCACCTCCGTTGCATGTG -3'

Sequencing Primer
(F):5'- ACAGACTTCAGTGGCCGAGAC -3'
(R):5'- CTCCGTTGCATGTGGAGGAC -3'

Posted On

2017-03-31