Mutagenetix > Incidental Mutation

Incidental Mutation 'R7955:Zdhhc4'

649763

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc4

Ensembl Gene

ENSMUSG00000001844

Gene Name

zinc finger, DHHC domain containing 4

Synonyms

1810021D01Rik, 2900029I10Rik

MMRRC Submission

045999-MU

Accession Numbers

Essential gene?

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

Stock #

R7955 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143302244-143315007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143307619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 134 (L134H)

Ref Sequence

ENSEMBL: ENSMUSP00000001900 (fasta)

Gene Model

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

AlphaFold

Q9D6H5

Predicted Effect

probably damaging
Transcript: ENSMUST00000001900
AA Change: L134H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001900
Gene: ENSMUSG00000001844
AA Change: L134H

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

probably damaging
Transcript: ENSMUST00000159813
AA Change: L134H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137935
Gene: ENSMUSG00000001844
AA Change: L134H

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 damaging
Transcript: ENSMUST00000159941
AA Change: L134H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124026
Gene: ENSMUSG00000001844
AA Change: L134H

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

probably damaging
Transcript: ENSMUST00000161915
AA Change: L134H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124813
Gene: ENSMUSG00000001844
AA Change: L134H

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: ENSMUST00000162066

SMART Domains

Protein: ENSMUSP00000125130
Gene: ENSMUSG00000001844

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

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 damaging
Transcript: ENSMUST00000162941
AA Change: L134H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124997
Gene: ENSMUSG00000001844
AA Change: L134H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,764,613 (GRCm39)	V711D	probably damaging	Het
Adgrg5	G	A	8: 95,664,325 (GRCm39)	V312M		Het
Ankrd53	A	G	6: 83,744,845 (GRCm39)	T352A	probably benign	Het
Ano4	T	A	10: 88,831,088 (GRCm39)	M512L	probably null	Het
AW551984	A	G	9: 39,507,960 (GRCm39)	F392S	probably damaging	Het
Chrna7	T	G	7: 62,753,541 (GRCm39)	K326T	possibly damaging	Het
Cldnd2	G	T	7: 43,091,120 (GRCm39)	L17F	possibly damaging	Het
Clvs2	T	C	10: 33,471,808 (GRCm39)	N166D	possibly damaging	Het
Cox10	A	T	11: 63,884,750 (GRCm39)	N218K	probably benign	Het
Crygs	C	T	16: 22,624,082 (GRCm39)	R175H	probably damaging	Het
Daxx	T	A	17: 34,131,229 (GRCm39)	Y385*	probably null	Het
Dnmbp	T	C	19: 43,890,762 (GRCm39)	E335G	probably benign	Het
Erich3	C	T	3: 154,444,951 (GRCm39)	Q376*	probably null	Het
Flot2	A	G	11: 77,949,769 (GRCm39)		probably null	Het
Ganc	A	G	2: 120,261,181 (GRCm39)	T289A	probably damaging	Het
Gm19668	G	A	10: 77,634,630 (GRCm39)	T113I	unknown	Het
Gpm6a	A	G	8: 55,511,840 (GRCm39)	N238S	probably damaging	Het
Hps1	T	C	19: 42,759,221 (GRCm39)	T124A	probably damaging	Het
Larp4b	T	C	13: 9,186,816 (GRCm39)	V48A	probably benign	Het
Magi2	A	G	5: 20,594,070 (GRCm39)	H205R	probably damaging	Het
Map2	T	A	1: 66,452,875 (GRCm39)	S588R	probably damaging	Het
Mocos	A	G	18: 24,799,216 (GRCm39)	D150G	probably damaging	Het
Msl2	A	G	9: 100,979,354 (GRCm39)	D576G	possibly damaging	Het
Mybpc3	A	G	2: 90,956,401 (GRCm39)		probably null	Het
Myo3b	A	T	2: 69,925,623 (GRCm39)	Y58F	probably benign	Het
Ndst3	T	G	3: 123,400,586 (GRCm39)	K440T	probably benign	Het
Ndst4	T	A	3: 125,231,831 (GRCm39)	Y133*	probably null	Het
Nrcam	G	A	12: 44,631,737 (GRCm39)	V1097M	probably benign	Het
Or6z1	A	G	7: 6,505,078 (GRCm39)	I49T	possibly damaging	Het
Rabep1	A	G	11: 70,808,267 (GRCm39)	T408A	probably damaging	Het
Rims1	A	T	1: 22,507,322 (GRCm39)	D609E	probably damaging	Het
Sh2d4a	A	G	8: 68,781,907 (GRCm39)	K172E	probably benign	Het
Slc12a9	A	C	5: 137,323,808 (GRCm39)	L369R	probably damaging	Het
Slc30a1	T	C	1: 191,639,395 (GRCm39)	C93R	probably damaging	Het
Tex35	C	T	1: 156,927,742 (GRCm39)	D143N	probably damaging	Het
Tgm3	A	T	2: 129,880,400 (GRCm39)	Y402F	probably benign	Het
Tmem17	T	A	11: 22,468,490 (GRCm39)	I143K	possibly damaging	Het
Tmprss11f	A	C	5: 86,692,682 (GRCm39)	S81A	probably benign	Het
Trp53bp1	G	A	2: 121,066,225 (GRCm39)	P834S	possibly damaging	Het
Trpm4	C	A	7: 44,968,683 (GRCm39)	G417W	probably damaging	Het
Trpm6	A	T	19: 18,831,654 (GRCm39)	R1506S	probably benign	Het
Tspan18	A	G	2: 93,040,305 (GRCm39)	V150A	possibly damaging	Het
Ttc39d	T	C	17: 80,523,352 (GRCm39)	F4L	probably benign	Het
Zfp407	A	T	18: 84,577,416 (GRCm39)	S1232R	probably benign	Het
Zswim2	A	C	2: 83,747,227 (GRCm39)	F353V	probably benign	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
R5956:Zdhhc4	UTSW	5	143,310,604 (GRCm39)	intron	probably benign
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
R8261:Zdhhc4	UTSW	5	143,307,588 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TGTGAACAGACCAGTGCGTG -3'
(R):5'- TAAGTCAGTCAGTTACGCAGAGTG -3'

Sequencing Primer
(F):5'- AGACCAGTGCGTGCCAGG -3'
(R):5'- GTGAAGTGCTTCTATGCAAGCAC -3'

Posted On

2020-09-15