Mutagenetix > Incidental Mutation

Incidental Mutation 'R9510:Zdhhc16'

718137

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc16

Ensembl Gene

ENSMUSG00000025157

Gene Name

zinc finger, DHHC domain containing 16

Synonyms

1500015N03Rik, Ablphilin 2, Abl-philin 2, APH2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R9510 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41921919-41932543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41929155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 253 (Y253H)

Ref Sequence

ENSEMBL: ENSMUSP00000026154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026154] [ENSMUST00000026168] [ENSMUST00000163287] [ENSMUST00000163398] [ENSMUST00000164776] [ENSMUST00000167927] [ENSMUST00000171561] [ENSMUST00000223802] [ENSMUST00000224258] [ENSMUST00000224562] [ENSMUST00000224896] [ENSMUST00000225968]

AlphaFold

Q9ESG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026154
AA Change: Y253H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157
AA Change: Y253H

Domain	Start	End	E-Value	Type
low complexity region	7	35	N/A	INTRINSIC
transmembrane domain	81	103	N/A	INTRINSIC
transmembrane domain	115	137	N/A	INTRINSIC
Pfam:zf-DHHC	151	289	1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026168

SMART Domains

Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	51	167	1.4e-29	PFAM
Pfam:MMS19_N	163	270	2.4e-44	PFAM
low complexity region	329	343	N/A	INTRINSIC
Pfam:MMS19_C	484	921	4.3e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163287

SMART Domains

Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	3	265	9.8e-97	PFAM
Pfam:MMS19_C	381	818	1e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163398

Predicted Effect

probably benign
Transcript: ENSMUST00000164776

Predicted Effect

probably benign
Transcript: ENSMUST00000166090

SMART Domains

Protein: ENSMUSP00000131219
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_C	102	494	2.2e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167927

SMART Domains

Protein: ENSMUSP00000132483
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	51	313	4.6e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171561

SMART Domains

Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	51	312	6.3e-90	PFAM
low complexity region	372	386	N/A	INTRINSIC
Pfam:MMS19_C	528	963	3.9e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223802

Predicted Effect

probably benign
Transcript: ENSMUST00000224258

Predicted Effect

probably benign
Transcript: ENSMUST00000224537

Predicted Effect

probably benign
Transcript: ENSMUST00000224562

Predicted Effect

probably benign
Transcript: ENSMUST00000224896

Predicted Effect

probably benign
Transcript: ENSMUST00000225968

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display prenatal and neonatal lethality with bradycardia, abnormal heart morphology and eye defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	G	4: 42,760,998 (GRCm39)	W6G	unknown	Het
Aatk	A	T	11: 119,901,094 (GRCm39)	C1101S	probably benign	Het
Ankrd61	T	C	5: 143,828,322 (GRCm39)	T218A	possibly damaging	Het
Cacna1b	T	C	2: 24,540,058 (GRCm39)	E1467G	probably damaging	Het
Ccdc186	T	C	19: 56,802,016 (GRCm39)	T34A	probably benign	Het
Cdc42bpb	G	A	12: 111,261,372 (GRCm39)	P1656S	probably benign	Het
Cdk13	A	C	13: 17,902,747 (GRCm39)	C934W	probably damaging	Het
Cebpg	T	C	7: 34,750,080 (GRCm39)	N61S	probably benign	Het
Cldn13	T	A	5: 134,943,843 (GRCm39)	E114V	probably benign	Het
Clec9a	T	A	6: 129,398,023 (GRCm39)	I187K	possibly damaging	Het
Cr2	G	T	1: 194,840,416 (GRCm39)	L509M	probably damaging	Het
Creb3l2	C	A	6: 37,311,446 (GRCm39)	G448W	probably damaging	Het
Csf2rb	T	A	15: 78,229,760 (GRCm39)		probably null	Het
Cyth1	C	T	11: 118,076,206 (GRCm39)		probably null	Het
Dapk1	A	T	13: 60,910,203 (GRCm39)	D1441V	unknown	Het
Dnhd1	A	T	7: 105,352,889 (GRCm39)	N2681Y	possibly damaging	Het
Dnm1	T	C	2: 32,213,739 (GRCm39)	M476V	probably benign	Het
Dock1	T	G	7: 134,592,279 (GRCm39)	I938S	probably benign	Het
Duox1	G	A	2: 122,160,023 (GRCm39)	V713I	possibly damaging	Het
Dusp16	T	C	6: 134,695,226 (GRCm39)	H535R	probably benign	Het
Eif3j2	TGCCGCCGCCGCCGCCGCCGCCGCCGCC	TGCCGCCGCCGCCGCCGCCGCCGCC	18: 43,610,782 (GRCm39)		probably benign	Het
Fancd2os	T	A	6: 113,574,994 (GRCm39)	Y4F	probably damaging	Het
Fat4	A	T	3: 39,037,886 (GRCm39)	Q3846L	probably benign	Het
Fbxw10	A	C	11: 62,743,814 (GRCm39)	H240P	probably benign	Het
Fer1l5	T	C	1: 36,442,662 (GRCm39)	L727P	probably damaging	Het
Fezf1	A	C	6: 23,247,845 (GRCm39)	F77V	probably benign	Het
Fli1	T	C	9: 32,335,493 (GRCm39)	D313G	probably damaging	Het
Frmd4a	A	G	2: 4,608,324 (GRCm39)	T731A	probably benign	Het
Gfy	T	C	7: 44,828,090 (GRCm39)	Q2R	possibly damaging	Het
Ggt5	T	C	10: 75,445,139 (GRCm39)	V382A	probably benign	Het
Hira	A	G	16: 18,772,789 (GRCm39)	D867G	probably damaging	Het
Hmcn1	A	G	1: 150,462,127 (GRCm39)	S5184P	probably benign	Het
Ighv1-26	A	C	12: 114,752,407 (GRCm39)	F7V	probably benign	Het
Igkv4-81	C	T	6: 68,967,796 (GRCm39)	E102K	possibly damaging	Het
Inmt	G	T	6: 55,147,990 (GRCm39)	S213Y	possibly damaging	Het
Ints2	T	A	11: 86,135,335 (GRCm39)	M360L	probably benign	Het
Itih3	A	G	14: 30,631,416 (GRCm39)	S827P	probably benign	Het
Kcnk12	C	A	17: 88,054,122 (GRCm39)	R180L	probably benign	Het
Klhl2	T	C	8: 65,202,113 (GRCm39)	N521S	probably benign	Het
Kmt2a	A	T	9: 44,734,531 (GRCm39)	F2104I	unknown	Het
Kndc1	G	A	7: 139,510,031 (GRCm39)	S1291N	probably benign	Het
Mettl21a	T	C	1: 64,647,285 (GRCm39)	T91A	probably damaging	Het
Mmrn2	A	G	14: 34,120,407 (GRCm39)	I426V	possibly damaging	Het
Mrpl2	T	C	17: 46,958,440 (GRCm39)	V74A	probably benign	Het
Msantd4	A	G	9: 4,385,007 (GRCm39)	D244G	probably benign	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Ncam2	A	G	16: 81,420,341 (GRCm39)	*838W	probably null	Het
Ncor1	CTG	CTGATG	11: 62,324,442 (GRCm39)		probably benign	Het
Nsf	T	C	11: 103,763,988 (GRCm39)	N365S	probably damaging	Het
Osbpl3	C	T	6: 50,313,194 (GRCm39)		probably null	Het
Pam	C	T	1: 97,826,065 (GRCm39)		probably null	Het
Parn	A	T	16: 13,358,942 (GRCm39)	M600K	probably benign	Het
Pcdha11	C	A	18: 37,139,532 (GRCm39)	T387N	probably benign	Het
Ptprt	A	C	2: 161,397,381 (GRCm39)	C1129G	probably damaging	Het
Ralgapb	T	A	2: 158,285,856 (GRCm39)	S645T	probably damaging	Het
Rara	C	T	11: 98,860,983 (GRCm39)	S157L	probably benign	Het
Rnf40	T	A	7: 127,201,808 (GRCm39)	I1000N	probably damaging	Het
Sap25	C	T	5: 137,640,494 (GRCm39)	T141I	probably null	Het
Scube2	C	T	7: 109,430,969 (GRCm39)	G410E	probably damaging	Het
Sh3gl2	A	G	4: 85,304,089 (GRCm39)	E264G	probably benign	Het
Smc4	T	G	3: 68,914,662 (GRCm39)	S92A	probably damaging	Het
Sorcs1	C	T	19: 50,666,521 (GRCm39)	R129Q	probably benign	Het
Spata31e4	A	G	13: 50,856,149 (GRCm39)	T596A	possibly damaging	Het
Spef2	T	C	15: 9,713,203 (GRCm39)	R390G	probably damaging	Het
Speg	T	C	1: 75,377,768 (GRCm39)	F842S	probably damaging	Het
Stk17b	G	T	1: 53,796,898 (GRCm39)	H290N	probably damaging	Het
Stpg3	A	T	2: 25,103,516 (GRCm39)	V191D	probably benign	Het
Supt6	C	T	11: 78,120,290 (GRCm39)	R350H	probably damaging	Het
Taf1b	G	A	12: 24,566,947 (GRCm39)	A214T	possibly damaging	Het
Tet3	T	C	6: 83,380,935 (GRCm39)	E411G	possibly damaging	Het
Tet3	T	A	6: 83,381,808 (GRCm39)		probably null	Het
Tg	T	C	15: 66,545,913 (GRCm39)	Y212H	probably damaging	Het
Tns3	A	G	11: 8,395,702 (GRCm39)	I1234T	probably damaging	Het
Traf6	C	T	2: 101,521,825 (GRCm39)	T220I	possibly damaging	Het
Tram2	C	G	1: 21,074,150 (GRCm39)	A263P	possibly damaging	Het
Treml1	T	G	17: 48,673,771 (GRCm39)	S261A	probably damaging	Het
Trim34b	A	G	7: 103,980,503 (GRCm39)	E197G	probably damaging	Het
Tspan18	C	T	2: 93,050,462 (GRCm39)	G54S	probably damaging	Het
Wdtc1	A	G	4: 133,049,529 (GRCm39)	V29A	probably damaging	Het
Zfp366	A	G	13: 99,365,874 (GRCm39)	Y345C	probably damaging	Het
Zfp423	T	A	8: 88,510,041 (GRCm39)	D101V	possibly damaging	Het
Zfp462	G	A	4: 55,080,735 (GRCm39)	M2450I	probably benign	Het
Zfp52	C	T	17: 21,782,218 (GRCm39)	L689F	possibly damaging	Het
Zim1	G	A	7: 6,690,739 (GRCm39)	Q29*	probably null	Het

Other mutations in Zdhhc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Zdhhc16	APN	19	41,928,099 (GRCm39)	missense	probably benign	0.29
IGL01290:Zdhhc16	APN	19	41,926,487 (GRCm39)	splice site	probably null
IGL01368:Zdhhc16	APN	19	41,929,945 (GRCm39)	splice site	probably null
IGL02191:Zdhhc16	APN	19	41,926,130 (GRCm39)	nonsense	probably null
FR4342:Zdhhc16	UTSW	19	41,930,588 (GRCm39)	intron	probably benign
FR4548:Zdhhc16	UTSW	19	41,930,607 (GRCm39)	frame shift	probably null
PIT4458001:Zdhhc16	UTSW	19	41,926,209 (GRCm39)	missense	possibly damaging	0.66
R1258:Zdhhc16	UTSW	19	41,926,483 (GRCm39)	missense	possibly damaging	0.64
R1335:Zdhhc16	UTSW	19	41,929,073 (GRCm39)	splice site	probably null
R1757:Zdhhc16	UTSW	19	41,930,394 (GRCm39)	missense	probably damaging	1.00
R3833:Zdhhc16	UTSW	19	41,926,553 (GRCm39)	critical splice donor site	probably null
R4381:Zdhhc16	UTSW	19	41,929,093 (GRCm39)	missense	possibly damaging	0.63
R4615:Zdhhc16	UTSW	19	41,932,122 (GRCm39)	missense	possibly damaging	0.74
R5789:Zdhhc16	UTSW	19	41,926,572 (GRCm39)	missense	probably damaging	1.00
R6177:Zdhhc16	UTSW	19	41,926,198 (GRCm39)	missense	probably benign	0.06
R7252:Zdhhc16	UTSW	19	41,929,990 (GRCm39)	missense	probably damaging	1.00
R8458:Zdhhc16	UTSW	19	41,928,093 (GRCm39)	missense	probably damaging	0.99
R8991:Zdhhc16	UTSW	19	41,926,465 (GRCm39)	missense	probably damaging	1.00
R9341:Zdhhc16	UTSW	19	41,926,549 (GRCm39)	missense	probably benign	0.00
R9343:Zdhhc16	UTSW	19	41,926,549 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCCACTGTCTGTCCATGTG -3'
(R):5'- AAGGGTTTTCTTAATGCTGCCC -3'

Sequencing Primer
(F):5'- CCATGTGATGGTGCCACTG -3'
(R):5'- TTACCAAATGGAGCCAGGC -3'

Posted On

2022-07-18