Mutagenetix > Incidental Mutation

Incidental Mutation 'R6177:Zdhhc16'

487853

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

044319-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.595) question?

Stock #

R6177 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41921919-41932543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41926198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 31 (Y31C)

Ref Sequence

ENSEMBL: ENSMUSP00000153513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026154] [ENSMUST00000075280] [ENSMUST00000112123] [ENSMUST00000167927] [ENSMUST00000171561] [ENSMUST00000224258] [ENSMUST00000225968] [ENSMUST00000224562] [ENSMUST00000224896] [ENSMUST00000223802]

AlphaFold

Q9ESG8

Predicted Effect

probably benign
Transcript: ENSMUST00000026154
AA Change: Y51C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157
AA Change: Y51C

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: ENSMUST00000075280

SMART Domains

Protein: ENSMUSP00000074756
Gene: ENSMUSG00000034321

Domain	Start	End	E-Value	Type
Pfam:ECR1_N	8	44	3.8e-12	PFAM
S1	66	147	3.75e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112123

SMART Domains

Protein: ENSMUSP00000107751
Gene: ENSMUSG00000034321

Domain	Start	End	E-Value	Type
Pfam:ECR1_N	7	41	3.9e-14	PFAM
Pfam:EXOSC1	64	94	7.9e-10	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

noncoding transcript
Transcript: ENSMUST00000223624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223768

Predicted Effect

probably benign
Transcript: ENSMUST00000224258
AA Change: Y51C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225968
AA Change: Y31C

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000224562
AA Change: Y51C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000224896
AA Change: Y51C

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000224537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225433

Predicted Effect

probably benign
Transcript: ENSMUST00000223802

Meta Mutation Damage Score

0.4615

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.7%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,074,896 (GRCm39)	I306V	probably damaging	Het
Actrt3	A	T	3: 30,652,316 (GRCm39)	Y259*	probably null	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Ano1	T	A	7: 144,232,478 (GRCm39)	M25L	possibly damaging	Het
Apol10b	A	T	15: 77,469,987 (GRCm39)	D63E	possibly damaging	Het
Atp6v1c1	C	A	15: 38,674,172 (GRCm39)	S55*	probably null	Het
C1s2	T	G	6: 124,606,960 (GRCm39)	D296A	probably damaging	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Cadm4	G	A	7: 24,202,186 (GRCm39)	V342M	possibly damaging	Het
Cat	T	C	2: 103,303,420 (GRCm39)	E119G	probably damaging	Het
Cavin2	G	T	1: 51,328,654 (GRCm39)	S37I	probably damaging	Het
Cdhr18	T	C	14: 13,868,002 (GRCm38)	D229G	probably benign	Het
Cdk5rap2	G	A	4: 70,199,719 (GRCm39)	R802C	probably damaging	Het
Clip1	A	G	5: 123,751,897 (GRCm39)		probably benign	Het
Dhx57	T	C	17: 80,580,395 (GRCm39)	N519S	possibly damaging	Het
Dpep2	T	C	8: 106,712,831 (GRCm39)	D260G	probably damaging	Het
Edem1	T	A	6: 108,828,159 (GRCm39)		probably null	Het
Epb41l4a	A	T	18: 33,931,868 (GRCm39)		probably null	Het
Esp1	T	C	17: 41,039,723 (GRCm39)	S3P	possibly damaging	Het
Fam111a	A	G	19: 12,564,746 (GRCm39)	Y165C	probably damaging	Het
Fstl4	A	G	11: 53,059,031 (GRCm39)	T497A	probably benign	Het
Gstcd	T	C	3: 132,787,834 (GRCm39)	D288G	probably damaging	Het
Hmcn2	T	A	2: 31,310,118 (GRCm39)	L3264*	probably null	Het
Hyal4	T	A	6: 24,766,089 (GRCm39)	L481*	probably null	Het
Ighv2-7	A	G	12: 113,771,055 (GRCm39)	Y77H	possibly damaging	Het
Jdp2	G	T	12: 85,685,614 (GRCm39)	R125L	probably benign	Het
Lrp1b	A	T	2: 41,013,748 (GRCm39)		probably null	Het
Lrp2	AC	A	2: 69,340,763 (GRCm39)		probably null	Het
Marveld2	C	T	13: 100,733,886 (GRCm39)	D250N	probably damaging	Het
Mast3	A	G	8: 71,242,662 (GRCm39)	S53P	probably damaging	Het
Ms4a20	A	G	19: 11,083,114 (GRCm39)	I102T	possibly damaging	Het
Myo3b	T	C	2: 70,143,707 (GRCm39)	V1041A	probably benign	Het
Nkpd1	T	A	7: 19,257,009 (GRCm39)	F113I	probably damaging	Het
Obscn	A	G	11: 58,923,490 (GRCm39)	S6470P	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4a73	T	C	2: 89,420,661 (GRCm39)	D266G	possibly damaging	Het
Or9g4b	C	T	2: 85,616,004 (GRCm39)	R50C	probably damaging	Het
Pdcd11	G	T	19: 47,108,722 (GRCm39)	G1246V	probably damaging	Het
Phc3	A	T	3: 30,996,714 (GRCm39)	S219T	probably damaging	Het
Plxnb1	C	T	9: 108,931,993 (GRCm39)		probably null	Het
Polh	T	C	17: 46,495,670 (GRCm39)	D276G	possibly damaging	Het
Polq	T	A	16: 36,892,071 (GRCm39)	V1991E	probably damaging	Het
Polr2g	G	A	19: 8,771,541 (GRCm39)	R144C	probably damaging	Het
Pramel16	G	A	4: 143,675,576 (GRCm39)	H417Y	possibly damaging	Het
Prex2	A	C	1: 11,207,001 (GRCm39)	T520P	possibly damaging	Het
Psg21	T	A	7: 18,386,279 (GRCm39)	T236S	possibly damaging	Het
Ptpru	A	T	4: 131,520,836 (GRCm39)	S761R	probably benign	Het
Rapgef6	G	A	11: 54,510,842 (GRCm39)	R253Q	probably damaging	Het
Rc3h2	C	T	2: 37,279,658 (GRCm39)	V524I	probably benign	Het
Sde2	T	C	1: 180,685,784 (GRCm39)	V112A	probably damaging	Het
Septin7	T	C	9: 25,205,100 (GRCm39)		probably null	Het
Spef2	A	G	15: 9,727,618 (GRCm39)	V155A	possibly damaging	Het
St7	T	C	6: 17,819,333 (GRCm39)		probably null	Het
Tmcc3	A	T	10: 94,418,249 (GRCm39)	Y339F	probably damaging	Het
Tmed6	T	C	8: 107,792,083 (GRCm39)	E54G	probably damaging	Het
Tnks1bp1	C	T	2: 84,889,624 (GRCm39)		probably benign	Het
Trim43c	T	C	9: 88,722,600 (GRCm39)	L82P	possibly damaging	Het
Txndc2	T	C	17: 65,945,466 (GRCm39)	D237G	probably benign	Het
Vmn1r91	T	A	7: 19,835,404 (GRCm39)	C108S	possibly damaging	Het
Vtn	A	T	11: 78,390,836 (GRCm39)	D165V	probably damaging	Het
Wdr3	A	T	3: 100,068,468 (GRCm39)	S13R	probably damaging	Het
Zfp39	A	T	11: 58,781,887 (GRCm39)	W292R	probably benign	Het
Zfp612	A	T	8: 110,816,606 (GRCm39)	L604F	probably damaging	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
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
R9510:Zdhhc16	UTSW	19	41,929,155 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGTATGACTCAGGCTGGATC -3'
(R):5'- TCCAGAGCTTTGTAAGATGCCTC -3'

Sequencing Primer
(F):5'- GACTCAGGCTGGATCCTTATATTAG -3'
(R):5'- CTTTGTAAGATGCCTCCAAAGCTCAG -3'

Posted On

2017-10-10