Mutagenetix > Incidental Mutation

Incidental Mutation 'R4028:Zdhhc11'

313103

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc11

Ensembl Gene

ENSMUSG00000069189

Gene Name

zinc finger, DHHC domain containing 11

Synonyms

4933421L13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4028 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74111970-74141109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74125390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 210 (L210P)

Ref Sequence

ENSEMBL: ENSMUSP00000152197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091493] [ENSMUST00000222487] [ENSMUST00000222951]

AlphaFold

Q14AK4

Predicted Effect

probably benign
Transcript: ENSMUST00000091493
AA Change: L210P

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000089075
Gene: ENSMUSG00000069189
AA Change: L210P

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
Pfam:zf-DHHC	123	278	6.5e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000222487
AA Change: L210P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000222951

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.2%

Validation Efficiency

Allele List at MGI

All alleles(6) : Targeted(5) Gene trapped(1)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,531,725 (GRCm39)	N503K	probably damaging	Het
Anapc2	T	A	2: 25,167,750 (GRCm39)	I439N	probably damaging	Het
Ank	A	G	15: 27,544,343 (GRCm39)	N35D	probably damaging	Het
Birc2	T	C	9: 7,819,352 (GRCm39)	N520S	probably benign	Het
C030005K15Rik	T	C	10: 97,561,404 (GRCm39)	Y109C	unknown	Het
Chrna5	T	C	9: 54,905,370 (GRCm39)	W61R	probably damaging	Het
Clec1b	G	A	6: 129,378,774 (GRCm39)	R87H	probably benign	Het
Cox7a2l	A	G	17: 83,810,069 (GRCm39)	I123T	probably benign	Het
Cyp2j5	A	T	4: 96,529,653 (GRCm39)	Y239*	probably null	Het
Dnajc6	G	A	4: 101,474,054 (GRCm39)	C485Y	probably damaging	Het
Dync1i1	C	T	6: 5,961,842 (GRCm39)	S341F	probably damaging	Het
Fbln1	A	G	15: 85,111,317 (GRCm39)	N157S	probably benign	Het
Get1	T	C	16: 95,946,784 (GRCm39)		probably null	Het
Gpatch2	A	G	1: 186,958,337 (GRCm39)	S231G	possibly damaging	Het
Grin2b	T	C	6: 135,713,433 (GRCm39)	D816G	probably damaging	Het
Kndc1	T	A	7: 139,509,941 (GRCm39)	F1261Y	probably damaging	Het
Lefty1	T	C	1: 180,765,346 (GRCm39)	S305P	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Mrc1	T	C	2: 14,243,059 (GRCm39)	S62P	probably damaging	Het
Ntrk3	T	C	7: 77,842,458 (GRCm39)	E790G	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Oog4	A	T	4: 143,166,770 (GRCm39)	N11K	probably benign	Het
Or4c3	T	C	2: 89,851,567 (GRCm39)	N281S	probably damaging	Het
Or52k2	A	T	7: 102,254,500 (GRCm39)	D313V	possibly damaging	Het
Pibf1	A	G	14: 99,416,777 (GRCm39)	E450G	probably damaging	Het
Pkd1l3	T	A	8: 110,350,603 (GRCm39)	S483T	possibly damaging	Het
Pkdrej	A	T	15: 85,701,693 (GRCm39)	N1414K	probably benign	Het
Pld2	A	G	11: 70,445,731 (GRCm39)	N655S	probably damaging	Het
Pramel28	T	A	4: 143,692,354 (GRCm39)	T216S	probably benign	Het
Rcn1	G	T	2: 105,229,395 (GRCm39)	Y52*	probably null	Het
Reck	T	C	4: 43,922,931 (GRCm39)	I402T	probably damaging	Het
Shisal2a	G	T	4: 108,240,412 (GRCm39)	C43*	probably null	Het
Slc28a3	T	C	13: 58,758,570 (GRCm39)	S18G	probably benign	Het
Slc7a1	C	A	5: 148,282,622 (GRCm39)	C75F	probably benign	Het
Snrnp200	A	G	2: 127,079,486 (GRCm39)	D1865G	probably damaging	Het
Tnrc6a	T	A	7: 122,769,344 (GRCm39)	I378N	probably damaging	Het
Trim3	A	G	7: 105,267,452 (GRCm39)	V309A	probably benign	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het

Other mutations in Zdhhc11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03354:Zdhhc11	APN	13	74,127,264 (GRCm39)	missense	possibly damaging	0.51
R0055:Zdhhc11	UTSW	13	74,130,805 (GRCm39)	nonsense	probably null
R0055:Zdhhc11	UTSW	13	74,130,805 (GRCm39)	nonsense	probably null
R1840:Zdhhc11	UTSW	13	74,122,771 (GRCm39)	missense	probably damaging	1.00
R2275:Zdhhc11	UTSW	13	74,121,871 (GRCm39)	missense	probably damaging	0.98
R4618:Zdhhc11	UTSW	13	74,127,349 (GRCm39)	missense	probably benign	0.35
R5197:Zdhhc11	UTSW	13	74,113,688 (GRCm39)	missense	probably benign	0.01
R5990:Zdhhc11	UTSW	13	74,127,303 (GRCm39)	missense	probably benign	0.30
R7251:Zdhhc11	UTSW	13	74,140,216 (GRCm39)	missense	probably benign
R7493:Zdhhc11	UTSW	13	74,121,726 (GRCm39)	missense	possibly damaging	0.53
R7579:Zdhhc11	UTSW	13	74,130,885 (GRCm39)	intron	probably benign
R7833:Zdhhc11	UTSW	13	74,121,866 (GRCm39)	missense	possibly damaging	0.68
R8835:Zdhhc11	UTSW	13	74,127,411 (GRCm39)	missense	probably damaging	1.00
R9352:Zdhhc11	UTSW	13	74,121,800 (GRCm39)	nonsense	probably null
R9361:Zdhhc11	UTSW	13	74,122,737 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAGGCCTGTGTGTTGATC -3'
(R):5'- ATAGTCCACTGTCTAGGTGTTCAAG -3'

Sequencing Primer
(F):5'- GATCTCATGTACTCAGCTGGG -3'
(R):5'- CACTGTCTAGGTGTTCAAGACTGAC -3'

Posted On

2015-04-30