Mutagenetix > Incidental Mutation

Incidental Mutation 'R0456:Zdhhc13'

40019

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc13

Ensembl Gene

ENSMUSG00000030471

Gene Name

zinc finger, DHHC domain containing 13

Synonyms

Hip14l, kojak, skc4, 2410004E01Rik

MMRRC Submission

038656-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48438751-48477188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48458602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 182 (F182S)

Ref Sequence

ENSEMBL: ENSMUSP00000123603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118927] [ENSMUST00000125280]

AlphaFold

Q9CWU2

Predicted Effect

probably benign
Transcript: ENSMUST00000118927
AA Change: F312S

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

SMART Domains

Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471
AA Change: F312S

Domain	Start	End	E-Value	Type
Blast:ANK	48	77	1e-9	BLAST
ANK	81	110	3.08e-1	SMART
ANK	115	144	4.39e-6	SMART
ANK	148	177	2.37e-2	SMART
ANK	181	211	5.19e2	SMART
ANK	216	245	8.07e-5	SMART
ANK	249	277	1.09e3	SMART
transmembrane domain	292	310	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
transmembrane domain	344	366	N/A	INTRINSIC
transmembrane domain	373	392	N/A	INTRINSIC
Pfam:zf-DHHC	421	558	1.1e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125280
AA Change: F182S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123603
Gene: ENSMUSG00000030471
AA Change: F182S

Domain	Start	End	E-Value	Type
ANK	18	47	2.37e-2	SMART
ANK	51	81	5.19e2	SMART
ANK	86	115	8.07e-5	SMART
ANK	119	147	1.09e3	SMART
transmembrane domain	160	182	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
transmembrane domain	214	236	N/A	INTRINSIC
Pfam:zf-DHHC	258	428	1.1e-35	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU mutation display wasting, weight loss, hair loss (alopecia), reduced bone mineral density (osteoporosis), and generalized amyloid deposition, which resulted in early death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,429,036 (GRCm39)	P11L	probably damaging	Het
Antxr1	A	C	6: 87,194,257 (GRCm39)	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,051,492 (GRCm39)	N1127D	probably benign	Het
Bivm	T	A	1: 44,165,969 (GRCm39)	W140R	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,494,776 (GRCm39)	V928A	possibly damaging	Het
Chia1	T	C	3: 106,035,795 (GRCm39)	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,309,550 (GRCm39)	I268F	probably damaging	Het
CK137956	A	T	4: 127,839,100 (GRCm39)	N439K	probably damaging	Het
Csf3r	C	A	4: 125,929,654 (GRCm39)	N392K	probably damaging	Het
Cyp1b1	T	C	17: 80,017,704 (GRCm39)	I484V	probably benign	Het
Dsc1	T	C	18: 20,232,169 (GRCm39)	K280E	probably damaging	Het
Eefsec	A	G	6: 88,274,870 (GRCm39)	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843 (GRCm39)		probably null	Het
Erap1	G	A	13: 74,812,339 (GRCm39)	V385I	probably benign	Het
Fat1	A	T	8: 45,482,571 (GRCm39)	I3077F	probably damaging	Het
Fras1	T	G	5: 96,862,202 (GRCm39)		probably null	Het
Fras1	G	T	5: 96,702,647 (GRCm39)	G230C	probably damaging	Het
Gsg1l	A	G	7: 125,522,682 (GRCm39)	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,395,779 (GRCm39)	V60A	probably damaging	Het
H4c6	T	C	13: 23,735,561 (GRCm39)	D86G	probably damaging	Het
Hapln4	A	T	8: 70,537,645 (GRCm39)	Y113F	probably benign	Het
Ikzf4	T	A	10: 128,471,677 (GRCm39)	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,774,885 (GRCm39)	H302L	probably damaging	Het
Klhl41	T	C	2: 69,500,893 (GRCm39)	V118A	probably damaging	Het
Kpna1	T	C	16: 35,823,270 (GRCm39)	S41P	possibly damaging	Het
Krt23	A	G	11: 99,377,604 (GRCm39)	V134A	probably benign	Het
Lamb1	G	A	12: 31,354,729 (GRCm39)	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,639,094 (GRCm39)	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,103 (GRCm39)	S171P	probably damaging	Het
Lvrn	G	A	18: 46,997,883 (GRCm39)		probably null	Het
Matr3	T	A	18: 35,705,917 (GRCm39)	F281I	probably damaging	Het
Meak7	A	T	8: 120,495,162 (GRCm39)	F199I	probably damaging	Het
Nxn	G	A	11: 76,153,963 (GRCm39)	Q291*	probably null	Het
Or5b113	A	G	19: 13,342,102 (GRCm39)	T37A	probably damaging	Het
Pdp2	G	T	8: 105,320,421 (GRCm39)	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,291 (GRCm39)	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,489,013 (GRCm39)	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,218,861 (GRCm39)		probably null	Het
Ptpro	G	T	6: 137,391,228 (GRCm39)	V783L	probably benign	Het
Rab40c	A	G	17: 26,103,631 (GRCm39)	V144A	possibly damaging	Het
Rasal2	T	C	1: 156,977,413 (GRCm39)	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,570,988 (GRCm39)	S103C	possibly damaging	Het
Rgl2	A	G	17: 34,155,823 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rit2	A	T	18: 31,108,504 (GRCm39)	F160L	probably benign	Het
Rnh1	A	G	7: 140,742,461 (GRCm39)	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,682,292 (GRCm39)	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,986,288 (GRCm39)	I505F	probably benign	Het
Sorcs3	A	T	19: 48,642,483 (GRCm39)	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,726,493 (GRCm39)	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Syne1	T	C	10: 5,292,252 (GRCm39)	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,780,354 (GRCm39)	N164S	probably benign	Het
Tigd3	A	G	19: 5,942,821 (GRCm39)	L103P	probably damaging	Het
Tmem132b	T	C	5: 125,864,788 (GRCm39)	S965P	probably damaging	Het
Tmem82	T	C	4: 141,344,701 (GRCm39)	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618 (GRCm39)	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,348,982 (GRCm39)	E198G	probably benign	Het
Tnpo2	A	G	8: 85,781,045 (GRCm39)	N767S	probably damaging	Het
Trf	T	C	9: 103,104,102 (GRCm39)	Y87C	probably damaging	Het
Tst	A	G	15: 78,289,780 (GRCm39)	V85A	probably damaging	Het
Usp37	A	T	1: 74,507,507 (GRCm39)	N503K	probably damaging	Het
Utp20	C	T	10: 88,590,435 (GRCm39)	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,688,388 (GRCm39)	D37G	probably benign	Het
Vmn1r77	T	A	7: 11,775,665 (GRCm39)	L79*	probably null	Het
Zbtb3	A	T	19: 8,780,564 (GRCm39)	D59V	probably damaging	Het
Zfp426	A	G	9: 20,381,593 (GRCm39)	F465L	probably damaging	Het
Zfp526	A	G	7: 24,925,637 (GRCm39)	E632G	probably damaging	Het

Other mutations in Zdhhc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00852:Zdhhc13	APN	7	48,455,349 (GRCm39)	missense	probably benign	0.00
IGL01820:Zdhhc13	APN	7	48,458,613 (GRCm39)	missense	probably damaging	1.00
IGL02941:Zdhhc13	APN	7	48,466,886 (GRCm39)	splice site	probably benign
bernard	UTSW	7	48,476,621 (GRCm39)	missense	probably damaging	1.00
brindle	UTSW	7	48,474,479 (GRCm39)	missense	possibly damaging	0.47
oxidized	UTSW	7	48,466,175 (GRCm39)	missense	probably benign	0.04
rusty	UTSW	7	48,474,392 (GRCm39)	missense	possibly damaging	0.95
zephiro	UTSW	7	48,461,103 (GRCm39)	nonsense	probably null
PIT4445001:Zdhhc13	UTSW	7	48,445,697 (GRCm39)	missense	probably benign	0.00
R1398:Zdhhc13	UTSW	7	48,476,621 (GRCm39)	missense	probably damaging	1.00
R1785:Zdhhc13	UTSW	7	48,474,392 (GRCm39)	missense	possibly damaging	0.95
R1786:Zdhhc13	UTSW	7	48,474,392 (GRCm39)	missense	possibly damaging	0.95
R2066:Zdhhc13	UTSW	7	48,466,175 (GRCm39)	missense	probably benign	0.04
R2131:Zdhhc13	UTSW	7	48,474,392 (GRCm39)	missense	possibly damaging	0.95
R2133:Zdhhc13	UTSW	7	48,474,392 (GRCm39)	missense	possibly damaging	0.95
R2405:Zdhhc13	UTSW	7	48,472,478 (GRCm39)	splice site	probably null
R3770:Zdhhc13	UTSW	7	48,452,692 (GRCm39)	missense	probably damaging	1.00
R4374:Zdhhc13	UTSW	7	48,458,589 (GRCm39)	missense	probably damaging	1.00
R4772:Zdhhc13	UTSW	7	48,449,621 (GRCm39)	missense	probably benign	0.24
R5052:Zdhhc13	UTSW	7	48,474,479 (GRCm39)	missense	possibly damaging	0.47
R5455:Zdhhc13	UTSW	7	48,455,323 (GRCm39)	missense	possibly damaging	0.95
R6418:Zdhhc13	UTSW	7	48,461,149 (GRCm39)	missense	possibly damaging	0.94
R6502:Zdhhc13	UTSW	7	48,465,308 (GRCm39)	missense	possibly damaging	0.95
R7136:Zdhhc13	UTSW	7	48,451,080 (GRCm39)	missense	probably benign
R7467:Zdhhc13	UTSW	7	48,454,156 (GRCm39)	missense	probably benign	0.02
R7485:Zdhhc13	UTSW	7	48,461,103 (GRCm39)	nonsense	probably null
R7723:Zdhhc13	UTSW	7	48,458,567 (GRCm39)	missense	probably benign
R8297:Zdhhc13	UTSW	7	48,465,257 (GRCm39)	missense	probably damaging	0.96
R8356:Zdhhc13	UTSW	7	48,452,747 (GRCm39)	missense	probably damaging	1.00
R8385:Zdhhc13	UTSW	7	48,455,444 (GRCm39)	critical splice donor site	probably null
R8456:Zdhhc13	UTSW	7	48,452,747 (GRCm39)	missense	probably damaging	1.00
R9346:Zdhhc13	UTSW	7	48,472,328 (GRCm39)	missense	probably benign	0.18
R9397:Zdhhc13	UTSW	7	48,476,628 (GRCm39)	missense	probably benign
X0021:Zdhhc13	UTSW	7	48,454,963 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGTTCCAAACCATGCTCAGCCC -3'
(R):5'- GCTTTCAGCCCAAAGCTATGCCAC -3'

Sequencing Primer
(F):5'- GGTGCAGTTACTATAACCCTACAG -3'
(R):5'- CCTGAGGATGCTGTCACATGG -3'

Posted On

2013-05-23