Mutagenetix > Incidental Mutation

Incidental Mutation 'R8425:Zdhhc6'

653454

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc6

Ensembl Gene

ENSMUSG00000024982

Gene Name

zinc finger, DHHC domain containing 6

Synonyms

5930409M18Rik

MMRRC Submission

067819-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55286648-55304468 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55302876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 42 (S42P)

Ref Sequence

ENSEMBL: ENSMUSP00000076157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076891] [ENSMUST00000095950] [ENSMUST00000223690] [ENSMUST00000223807] [ENSMUST00000224291] [ENSMUST00000224897] [ENSMUST00000225495] [ENSMUST00000225529] [ENSMUST00000225963] [ENSMUST00000226103]

AlphaFold

Q9CPV7

Predicted Effect

probably benign
Transcript: ENSMUST00000076891
AA Change: S42P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000076157
Gene: ENSMUSG00000024982
AA Change: S42P

Domain	Start	End	E-Value	Type
transmembrane domain	19	41	N/A	INTRINSIC
transmembrane domain	51	73	N/A	INTRINSIC
Pfam:zf-DHHC	94	244	3.2e-38	PFAM
SH3	316	397	5.84e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095950

SMART Domains

Protein: ENSMUSP00000093644
Gene: ENSMUSG00000024983

Domain	Start	End	E-Value	Type
Pfam:V-SNARE	12	90	7.3e-29	PFAM
t_SNARE	117	184	4.61e-10	SMART
low complexity region	193	211	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223690

Predicted Effect

probably benign
Transcript: ENSMUST00000223807
AA Change: S42P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000224291
AA Change: S42P

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000224897
AA Change: S42P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000225495
AA Change: S42P

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000225529

Predicted Effect

probably benign
Transcript: ENSMUST00000225963
AA Change: S42P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226103
AA Change: S42P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,324,745 (GRCm39)	E92G	possibly damaging	Het
Aasdh	A	T	5: 77,034,124 (GRCm39)	Y476N	possibly damaging	Het
Abca13	G	T	11: 9,264,623 (GRCm39)	V3002F	possibly damaging	Het
Adam23	C	T	1: 63,624,536 (GRCm39)	T788I	probably damaging	Het
Adgrb2	A	G	4: 129,898,850 (GRCm39)	T282A	possibly damaging	Het
Adgrg1	T	C	8: 95,735,035 (GRCm39)	Y402H	probably damaging	Het
Agpat2	A	T	2: 26,483,666 (GRCm39)	L257Q	probably benign	Het
Agpat3	A	T	10: 78,118,211 (GRCm39)	V255E	possibly damaging	Het
Akap6	A	G	12: 52,933,404 (GRCm39)	I299V	probably benign	Het
Anapc1	A	T	2: 128,511,788 (GRCm39)	F468L	probably damaging	Het
Apob	T	A	12: 8,038,842 (GRCm39)	N431K	possibly damaging	Het
Asprv1	T	A	6: 86,605,851 (GRCm39)	D232E	probably benign	Het
AW209491	A	G	13: 14,811,921 (GRCm39)	Y258C	probably damaging	Het
Bach2	C	T	4: 32,562,316 (GRCm39)	P261L	probably benign	Het
Cap2	T	A	13: 46,763,208 (GRCm39)	I146K	probably damaging	Het
Catsperb	A	T	12: 101,569,028 (GRCm39)	Q900L	probably benign	Het
Ccdc187	A	T	2: 26,171,548 (GRCm39)	V310D	probably damaging	Het
Cenpe	G	T	3: 134,948,388 (GRCm39)	G1275*	probably null	Het
Chd8	C	T	14: 52,448,012 (GRCm39)	G1663D	probably damaging	Het
Col6a5	T	A	9: 105,823,156 (GRCm39)	Y67F	unknown	Het
Cuzd1	G	T	7: 130,919,720 (GRCm39)	T132K	possibly damaging	Het
Ddr2	T	A	1: 169,863,585 (GRCm39)		probably benign	Het
Ddx42	T	C	11: 106,138,550 (GRCm39)	I783T	probably benign	Het
Dennd4a	T	A	9: 64,746,256 (GRCm39)	D47E	probably damaging	Het
Dvl2	T	G	11: 69,898,673 (GRCm39)	W379G	probably damaging	Het
Ehbp1	A	G	11: 21,963,495 (GRCm39)	L1160P	probably damaging	Het
Eml6	A	G	11: 29,705,008 (GRCm39)	V1512A	probably benign	Het
Ephb6	T	C	6: 41,595,580 (GRCm39)	S780P	probably damaging	Het
Exo5	G	A	4: 120,779,560 (GRCm39)	L102F	probably benign	Het
Fam220a	A	T	5: 143,548,594 (GRCm39)	K2M	possibly damaging	Het
Fanci	A	T	7: 79,083,289 (GRCm39)	I731L	probably benign	Het
Gbp8	A	G	5: 105,165,640 (GRCm39)	S338P	probably damaging	Het
H2-M11	T	C	17: 36,859,649 (GRCm39)	I214T	probably benign	Het
Hhatl	C	A	9: 121,618,168 (GRCm39)	A196S	probably benign	Het
Hspg2	C	A	4: 137,278,178 (GRCm39)	C2988*	probably null	Het
Ifi213	A	G	1: 173,417,426 (GRCm39)	S329P	probably benign	Het
Lingo3	G	T	10: 80,670,816 (GRCm39)	F371L	probably benign	Het
Maml2	C	T	9: 13,531,413 (GRCm39)	T209I		Het
Ndufaf3	T	C	9: 108,444,182 (GRCm39)		probably benign	Het
Nfatc2	C	T	2: 168,378,216 (GRCm39)	G483E	probably damaging	Het
Npy6r	A	C	18: 44,409,070 (GRCm39)	T164P	probably benign	Het
Omg	T	C	11: 79,392,826 (GRCm39)	E344G	possibly damaging	Het
Or2g25	T	A	17: 37,970,975 (GRCm39)	N83I	probably damaging	Het
Or2h15	T	C	17: 38,441,927 (GRCm39)	D52G	possibly damaging	Het
Or4c116	T	A	2: 88,942,737 (GRCm39)	N40Y	probably damaging	Het
Or52n20	A	G	7: 104,320,502 (GRCm39)	N198D	probably damaging	Het
Or5k1	A	G	16: 58,617,966 (GRCm39)	M81T	probably benign	Het
Or9i1	T	C	19: 13,839,849 (GRCm39)	S231P	probably benign	Het
P2rx7	A	G	5: 122,808,521 (GRCm39)	E301G	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkhd1l1	T	C	15: 44,437,911 (GRCm39)	S3569P	probably benign	Het
Pkn3	G	A	2: 29,976,513 (GRCm39)		probably null	Het
Proc	C	T	18: 32,256,411 (GRCm39)	V419M	probably damaging	Het
Prss37	C	T	6: 40,493,052 (GRCm39)	W138*	probably null	Het
Prss52	T	A	14: 64,350,009 (GRCm39)	L212*	probably null	Het
Rnps1	A	G	17: 24,637,143 (GRCm39)	K8E	unknown	Het
Rpf2	A	T	10: 40,101,429 (GRCm39)	L202*	probably null	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Serpinb5	T	A	1: 106,809,515 (GRCm39)	M307K	possibly damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
Slc49a4	A	T	16: 35,555,967 (GRCm39)	N164K	probably benign	Het
Slfn8	T	A	11: 82,895,441 (GRCm39)	Q455L	possibly damaging	Het
Sv2b	A	G	7: 74,767,347 (GRCm39)	M683T	probably damaging	Het
Tacc3	G	T	5: 33,821,874 (GRCm39)	L211F	unknown	Het
Tbc1d8	A	G	1: 39,420,490 (GRCm39)	V681A	probably damaging	Het
Tbkbp1	T	C	11: 97,029,677 (GRCm39)	E493G	unknown	Het
Th	A	T	7: 142,447,823 (GRCm39)	V420E	possibly damaging	Het
Tmem132c	T	G	5: 127,641,421 (GRCm39)	V115G		Het
Usp40	G	A	1: 87,887,558 (GRCm39)	R915C	probably benign	Het
Wdr81	T	A	11: 75,342,348 (GRCm39)	H973L	possibly damaging	Het
Zfp369	T	A	13: 65,444,489 (GRCm39)	I544N	possibly damaging	Het

Other mutations in Zdhhc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Zdhhc6	APN	19	55,298,324 (GRCm39)	missense	probably benign	0.19
IGL01419:Zdhhc6	APN	19	55,298,186 (GRCm39)	missense	probably benign	0.09
IGL02598:Zdhhc6	APN	19	55,302,959 (GRCm39)	missense	probably benign	0.31
Chalcogenide	UTSW	19	55,300,133 (GRCm39)	missense	probably damaging	1.00
pegmatite	UTSW	19	55,292,871 (GRCm39)	nonsense	probably null
telluride	UTSW	19	55,302,998 (GRCm39)	start codon destroyed	probably null	1.00
R0267:Zdhhc6	UTSW	19	55,297,362 (GRCm39)	missense	probably benign	0.17
R0920:Zdhhc6	UTSW	19	55,300,133 (GRCm39)	missense	probably damaging	1.00
R2143:Zdhhc6	UTSW	19	55,287,228 (GRCm39)	missense	probably benign
R4445:Zdhhc6	UTSW	19	55,291,169 (GRCm39)	missense	probably benign	0.31
R4446:Zdhhc6	UTSW	19	55,291,169 (GRCm39)	missense	probably benign	0.31
R4632:Zdhhc6	UTSW	19	55,302,741 (GRCm39)	missense	probably damaging	1.00
R4921:Zdhhc6	UTSW	19	55,301,642 (GRCm39)	missense	probably damaging	0.96
R5144:Zdhhc6	UTSW	19	55,302,998 (GRCm39)	start codon destroyed	probably null	1.00
R7067:Zdhhc6	UTSW	19	55,292,871 (GRCm39)	nonsense	probably null
R7266:Zdhhc6	UTSW	19	55,292,932 (GRCm39)	missense	probably damaging	1.00
R7307:Zdhhc6	UTSW	19	55,301,682 (GRCm39)	missense	probably damaging	1.00
R7326:Zdhhc6	UTSW	19	55,291,187 (GRCm39)	missense	possibly damaging	0.88
R8889:Zdhhc6	UTSW	19	55,290,987 (GRCm39)	splice site	probably benign
R8892:Zdhhc6	UTSW	19	55,290,987 (GRCm39)	splice site	probably benign
R8962:Zdhhc6	UTSW	19	55,287,239 (GRCm39)	missense	probably benign
R9015:Zdhhc6	UTSW	19	55,287,318 (GRCm39)	missense	probably benign
R9128:Zdhhc6	UTSW	19	55,301,680 (GRCm39)	nonsense	probably null
R9785:Zdhhc6	UTSW	19	55,300,203 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAAAGGTCATTGTCAAATGGATC -3'
(R):5'- CCAAAGGCATGACAGCTCAG -3'

Sequencing Primer
(F):5'- GTCAAATGGATCTTTTTCTTACCGG -3'
(R):5'- GCACACACATGGACTTGTTG -3'

Posted On

2020-10-20