Mutagenetix > Incidental Mutation

Incidental Mutation 'R0787:Zdhhc3'

76908

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc3

Ensembl Gene

ENSMUSG00000025786

Gene Name

zinc finger, DHHC domain containing 3

Synonyms

Zfp373, 2210017C02Rik, 1810006O10Rik, 1110020O22Rik, GODZ

MMRRC Submission

038967-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122895224-122942269 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 122912688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 153 (C153*)

Ref Sequence

ENSEMBL: ENSMUSP00000116222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026892] [ENSMUST00000129862] [ENSMUST00000138622] [ENSMUST00000140497] [ENSMUST00000147563] [ENSMUST00000150679] [ENSMUST00000152396] [ENSMUST00000155778]

AlphaFold

Q8R173

Predicted Effect

probably benign
Transcript: ENSMUST00000026892

SMART Domains

Protein: ENSMUSP00000026892
Gene: ENSMUSG00000025786

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129151

Predicted Effect

probably benign
Transcript: ENSMUST00000129862

SMART Domains

Protein: ENSMUSP00000119360
Gene: ENSMUSG00000025786

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138622

SMART Domains

Protein: ENSMUSP00000119750
Gene: ENSMUSG00000025786

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140497

SMART Domains

Protein: ENSMUSP00000122604
Gene: ENSMUSG00000025786

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000147563
AA Change: Y178N

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

SMART Domains

Protein: ENSMUSP00000117392
Gene: ENSMUSG00000025786
AA Change: Y178N

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
transmembrane domain	73	92	N/A	INTRINSIC
Pfam:zf-DHHC	125	255	3.8e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150679

SMART Domains

Protein: ENSMUSP00000116526
Gene: ENSMUSG00000025786

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000152396
AA Change: C153*

SMART Domains

Protein: ENSMUSP00000116222
Gene: ENSMUSG00000025786
AA Change: C153*

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC
low complexity region	136	149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155778

SMART Domains

Protein: ENSMUSP00000119416
Gene: ENSMUSG00000025786

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001F09Rik	A	T	14: 43,202,950 (GRCm39)		probably null	Het
Abca8a	T	A	11: 109,933,814 (GRCm39)	Y1197F	possibly damaging	Het
Abcc2	T	C	19: 43,786,955 (GRCm39)		probably null	Het
Adamts16	A	T	13: 70,886,948 (GRCm39)	C979S	probably damaging	Het
Agap2	T	A	10: 126,921,019 (GRCm39)	D523E	unknown	Het
Ankfy1	T	A	11: 72,651,122 (GRCm39)	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,700,315 (GRCm39)	S379G	probably null	Het
Arhgap40	T	C	2: 158,389,710 (GRCm39)	S625P	probably benign	Het
Armc12	G	C	17: 28,757,740 (GRCm39)	A291P	probably damaging	Het
Armc9	A	G	1: 86,130,227 (GRCm39)	N524D	probably damaging	Het
Col12a1	G	T	9: 79,545,767 (GRCm39)	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,036,079 (GRCm39)	N277S	probably benign	Het
Czib	T	A	4: 107,747,326 (GRCm39)	L6Q	probably damaging	Het
Dennd2b	G	T	7: 109,124,827 (GRCm39)	R1068S	possibly damaging	Het
E130311K13Rik	A	T	3: 63,827,719 (GRCm39)	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,772,696 (GRCm39)	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,336,010 (GRCm39)	E58G	probably damaging	Het
Fam217b	T	A	2: 178,062,702 (GRCm39)	V222E	probably benign	Het
Fat1	T	A	8: 45,493,592 (GRCm39)	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,241,765 (GRCm39)		probably benign	Het
Hltf	A	T	3: 20,160,610 (GRCm39)	D759V	probably damaging	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Isg15	C	T	4: 156,284,396 (GRCm39)	R44H	probably benign	Het
Itga4	C	T	2: 79,109,497 (GRCm39)	T232I	probably benign	Het
Kntc1	C	A	5: 123,934,167 (GRCm39)	H1399Q	probably benign	Het
Lig1	A	C	7: 13,032,995 (GRCm39)	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,504,230 (GRCm39)	C29F	probably damaging	Het
Mtmr10	T	C	7: 63,950,363 (GRCm39)	I136T	possibly damaging	Het
Naip1	A	G	13: 100,562,604 (GRCm39)	Y854H	probably benign	Het
Or6c201	T	C	10: 128,969,395 (GRCm39)	N81D	possibly damaging	Het
Pcdh9	G	A	14: 94,124,193 (GRCm39)	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,487,479 (GRCm39)		probably benign	Het
Phgdh	A	G	3: 98,241,865 (GRCm39)	V83A	probably damaging	Het
Pik3r1	A	T	13: 101,827,031 (GRCm39)	M326K	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,802,916 (GRCm39)	D235G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,392,660 (GRCm39)	P1665Q	probably damaging	Het
Ppp1r7	A	G	1: 93,292,678 (GRCm39)	T326A	probably damaging	Het
Prr22	A	T	17: 57,078,072 (GRCm39)	Y75F	possibly damaging	Het
Ptov1	A	C	7: 44,514,894 (GRCm39)		probably null	Het
Rasal2	A	G	1: 156,986,266 (GRCm39)	S766P	probably damaging	Het
Shmt1	T	C	11: 60,683,802 (GRCm39)	T337A	probably benign	Het
Tbc1d4	A	T	14: 101,686,645 (GRCm39)	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,912,777 (GRCm39)	V1126A	probably benign	Het
Tep1	A	T	14: 51,066,687 (GRCm39)	S2304T	possibly damaging	Het
Tiam1	C	A	16: 89,586,449 (GRCm39)	R1446M	probably damaging	Het
Tmem87a	T	C	2: 120,200,965 (GRCm39)	I425V	probably benign	Het
Ubr3	T	C	2: 69,781,765 (GRCm39)		probably benign	Het
Ubxn7	T	A	16: 32,200,581 (GRCm39)		probably benign	Het
Vmn2r13	A	G	5: 109,304,713 (GRCm39)	S573P	probably damaging	Het
Wdfy3	A	T	5: 102,105,254 (GRCm39)	V191E	probably damaging	Het
Zfp407	A	T	18: 84,227,147 (GRCm39)	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,227,471 (GRCm39)	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,634 (GRCm39)	I227N	unknown	Het

Other mutations in Zdhhc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02322:Zdhhc3	APN	9	122,929,542 (GRCm39)	missense	probably benign	0.02
IGL02597:Zdhhc3	APN	9	122,929,456 (GRCm39)	missense	probably damaging	1.00
IGL03036:Zdhhc3	APN	9	122,929,582 (GRCm39)	missense	probably damaging	1.00
LCD18:Zdhhc3	UTSW	9	122,912,087 (GRCm39)	intron	probably benign
R2049:Zdhhc3	UTSW	9	122,929,602 (GRCm39)	missense	probably damaging	1.00
R4904:Zdhhc3	UTSW	9	122,929,452 (GRCm39)	missense	probably damaging	1.00
R5418:Zdhhc3	UTSW	9	122,909,456 (GRCm39)	missense	probably damaging	1.00
R5639:Zdhhc3	UTSW	9	122,929,410 (GRCm39)	missense	probably damaging	1.00
R5886:Zdhhc3	UTSW	9	122,920,146 (GRCm39)	missense	probably benign	0.01
R8379:Zdhhc3	UTSW	9	122,918,143 (GRCm39)	missense	probably damaging	0.98
R8471:Zdhhc3	UTSW	9	122,929,440 (GRCm39)	missense	probably damaging	1.00
R8982:Zdhhc3	UTSW	9	122,929,578 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTAAAGCAAGTGCCTTGCAGACC -3'
(R):5'- ATTTCATGTGCCCCACACAGCC -3'

Sequencing Primer
(F):5'- GCCTGTCTAAACTGAAGGGTC -3'
(R):5'- ACAGCCTGAGTCATGCTGTG -3'

Posted On

2013-10-16