Mutagenetix > Incidental Mutation

Incidental Mutation 'R8420:Zdhhc22'

653157

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc22

Ensembl Gene

ENSMUSG00000048483

Gene Name

zinc finger, DHHC-type containing 22

Synonyms

LOC238331

MMRRC Submission

067773-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.763) question?

Stock #

R8420 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87027537-87037204 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87035143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 103 (V103G)

Ref Sequence

ENSEMBL: ENSMUSP00000093177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095521] [ENSMUST00000222543]

AlphaFold

A0PK84

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095521
AA Change: V103G

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093177
Gene: ENSMUSG00000048483
AA Change: V103G

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
Pfam:zf-DHHC	79	222	3.1e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222543
AA Change: V103G

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,937,746 (GRCm39)	S11P	unknown	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Aph1b	A	G	9: 66,701,503 (GRCm39)	S45P	probably damaging	Het
Atp9b	A	T	18: 80,887,806 (GRCm39)	D321E		Het
C1qbp	A	G	11: 70,869,543 (GRCm39)	V180A	possibly damaging	Het
C4b	G	T	17: 34,953,513 (GRCm39)	A990D	probably damaging	Het
Ccdc80	T	A	16: 44,915,612 (GRCm39)	S123T	possibly damaging	Het
Cdh18	A	C	15: 23,474,138 (GRCm39)	E669D	possibly damaging	Het
Ceacam3	T	A	7: 16,895,608 (GRCm39)	V526D		Het
Cenpf	C	T	1: 189,404,782 (GRCm39)	C349Y	probably damaging	Het
Dmrt2	T	C	19: 25,655,379 (GRCm39)	V326A	probably damaging	Het
Dock9	T	C	14: 121,783,454 (GRCm39)	Q2023R	probably damaging	Het
Exd2	A	G	12: 80,522,771 (GRCm39)	R77G	probably benign	Het
Exph5	A	T	9: 53,287,148 (GRCm39)	K1410*	probably null	Het
Eya2	A	G	2: 165,608,988 (GRCm39)	T443A	probably damaging	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Foxp2	G	T	6: 15,403,866 (GRCm39)	R381L	unknown	Het
Grm7	T	G	6: 111,057,315 (GRCm39)	V305G	probably benign	Het
Gzma	G	A	13: 113,237,464 (GRCm39)	R8W	probably benign	Het
H6pd	T	C	4: 150,066,133 (GRCm39)	E759G	probably benign	Het
Ift27	A	G	15: 78,048,391 (GRCm39)	V154A	probably benign	Het
Kif1a	A	T	1: 92,950,141 (GRCm39)	S1429T	probably benign	Het
Lrrn1	T	A	6: 107,546,294 (GRCm39)	D697E	probably benign	Het
Mcrs1	A	T	15: 99,141,575 (GRCm39)	I387N	probably damaging	Het
Muc16	T	C	9: 18,448,807 (GRCm39)	T7675A	probably damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nid1	C	A	13: 13,612,416 (GRCm39)	L44I	possibly damaging	Het
Or2f2	A	T	6: 42,767,644 (GRCm39)	T224S	possibly damaging	Het
Or4m1	T	C	14: 50,558,233 (GRCm39)	T20A	probably benign	Het
Or5h27	A	G	16: 59,006,117 (GRCm39)	I243T	unknown	Het
Or8k1	T	A	2: 86,047,457 (GRCm39)	E199V	probably damaging	Het
Pde11a	C	T	2: 75,889,354 (GRCm39)	D707N	probably damaging	Het
Pigf	A	T	17: 87,327,910 (GRCm39)	L119*	probably null	Het
Pkd1l1	A	T	11: 8,820,277 (GRCm39)	C1679*	probably null	Het
Prnp	A	G	2: 131,778,669 (GRCm39)	N107S	probably benign	Het
Ptgfr	C	T	3: 151,541,053 (GRCm39)	V152M	possibly damaging	Het
Rap2b	A	G	3: 61,271,805 (GRCm39)		probably benign	Het
Rtn4	A	G	11: 29,657,300 (GRCm39)	T485A	probably damaging	Het
Sec23b	A	G	2: 144,401,234 (GRCm39)	T32A	probably benign	Het
Skint5	A	T	4: 113,437,679 (GRCm39)		probably null	Het
Slc13a5	A	G	11: 72,148,210 (GRCm39)	L275P	probably damaging	Het
Slc20a1	C	T	2: 129,041,784 (GRCm39)	A49V	probably damaging	Het
Slc35g2	A	G	9: 100,435,224 (GRCm39)	I149T	probably benign	Het
Syk	T	A	13: 52,778,763 (GRCm39)	I283K	probably benign	Het
Taf7l2	T	C	10: 115,948,440 (GRCm39)	Y362C	probably benign	Het
Tnfsf13b	G	A	8: 10,056,795 (GRCm39)		probably benign	Het
Ubr1	A	G	2: 120,701,476 (GRCm39)	V1592A	probably benign	Het
Vopp1	T	C	6: 57,739,379 (GRCm39)	*123W	probably null	Het
Xpo4	T	A	14: 57,841,913 (GRCm39)	Q467H	probably damaging	Het
Zfp868	A	G	8: 70,064,160 (GRCm39)	S392P	probably damaging	Het

Other mutations in Zdhhc22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0629:Zdhhc22	UTSW	12	87,035,071 (GRCm39)	missense	probably damaging	0.98
R1836:Zdhhc22	UTSW	12	87,030,204 (GRCm39)	missense	probably benign	0.31
R2847:Zdhhc22	UTSW	12	87,035,336 (GRCm39)	missense	probably benign
R3881:Zdhhc22	UTSW	12	87,030,400 (GRCm39)	missense	probably benign	0.00
R4465:Zdhhc22	UTSW	12	87,034,997 (GRCm39)	missense	probably benign	0.26
R4876:Zdhhc22	UTSW	12	87,035,012 (GRCm39)	missense	probably damaging	1.00
R5448:Zdhhc22	UTSW	12	87,035,341 (GRCm39)	missense	possibly damaging	0.95
R7667:Zdhhc22	UTSW	12	87,030,162 (GRCm39)	missense	probably benign	0.00
R8090:Zdhhc22	UTSW	12	87,030,394 (GRCm39)	missense	probably benign	0.25
R9150:Zdhhc22	UTSW	12	87,035,192 (GRCm39)	missense	probably benign	0.00
R9152:Zdhhc22	UTSW	12	87,035,192 (GRCm39)	missense	probably benign	0.00
R9486:Zdhhc22	UTSW	12	87,030,398 (GRCm39)	missense	probably benign	0.33
R9635:Zdhhc22	UTSW	12	87,030,396 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AACTGGCTGATTGAAGTGGG -3'
(R):5'- TGACCTTCGTACTGCAGCTC -3'

Sequencing Primer
(F):5'- CTGATTGAAGTGGGCAGGAGC -3'
(R):5'- ATGCGTGAGGACCCCACAG -3'

Posted On

2020-10-20