Mutagenetix > Incidental Mutation

Incidental Mutation 'R7136:Zdhhc13'

553069

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

045220-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48438751-48477188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48451080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 108 (I108V)

Ref Sequence

ENSEMBL: ENSMUSP00000112498 (fasta)

Gene Model

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

AlphaFold

Q9CWU2

Predicted Effect

probably benign
Transcript: ENSMUST00000118927
AA Change: I108V

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

SMART Domains

Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471
AA Change: I108V

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

SMART Domains

Protein: ENSMUSP00000123603
Gene: ENSMUSG00000030471

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,560,610 (GRCm39)	S262P	probably damaging	Het
Abcc2	A	G	19: 43,825,899 (GRCm39)	E1512G	probably damaging	Het
Abcg2	T	G	6: 58,661,325 (GRCm39)	Y459D	possibly damaging	Het
Amy1	T	C	3: 113,357,248 (GRCm39)	Y197C	probably damaging	Het
Bptf	A	G	11: 106,990,541 (GRCm39)	I516T	probably damaging	Het
Capn12	T	A	7: 28,582,532 (GRCm39)		probably null	Het
Cbln2	T	A	18: 86,734,797 (GRCm39)	L190Q	probably damaging	Het
Ccdc157	C	T	11: 4,098,592 (GRCm39)	E305K	possibly damaging	Het
Ccdc47	A	G	11: 106,095,830 (GRCm39)	S289P	probably benign	Het
Chd3	C	T	11: 69,239,264 (GRCm39)	E1756K	probably null	Het
Chrd	G	T	16: 20,553,272 (GRCm39)	A183S	possibly damaging	Het
Cp	C	T	3: 20,039,822 (GRCm39)	R880*	probably null	Het
Cyp24a1	A	T	2: 170,336,063 (GRCm39)	D191E	probably benign	Het
Dnah1	T	C	14: 31,020,613 (GRCm39)	Y1252C	probably damaging	Het
Eps8l1	A	G	7: 4,480,403 (GRCm39)	D487G	probably damaging	Het
Fam227b	T	G	2: 125,965,948 (GRCm39)	Q159P	probably damaging	Het
Fat3	A	G	9: 16,289,481 (GRCm39)	I14T	probably benign	Het
Fbxl19	C	A	7: 127,349,217 (GRCm39)	T129N	possibly damaging	Het
Fuca2	T	C	10: 13,381,665 (GRCm39)	F193L	probably benign	Het
H2-Q1	T	C	17: 35,539,603 (GRCm39)		probably null	Het
Hgh1	A	G	15: 76,254,631 (GRCm39)	M336V	probably benign	Het
Il12b	T	C	11: 44,298,857 (GRCm39)	L104P	probably benign	Het
Kcnh2	A	T	5: 24,537,989 (GRCm39)	F125I	probably benign	Het
Kcnk7	A	G	19: 5,756,104 (GRCm39)	H110R	probably benign	Het
Kdm3a	G	A	6: 71,588,764 (GRCm39)	P415L	probably benign	Het
Kifc3	T	C	8: 95,830,077 (GRCm39)	T610A	probably benign	Het
Krbox5	A	G	13: 67,991,111 (GRCm39)		probably null	Het
Lmbr1l	C	A	15: 98,809,372 (GRCm39)		probably null	Het
Lmo7	T	A	14: 102,157,975 (GRCm39)	M1436K	unknown	Het
Lrp1	C	T	10: 127,394,491 (GRCm39)	C2574Y	probably damaging	Het
Med13l	A	G	5: 118,859,587 (GRCm39)	E258G	possibly damaging	Het
Mesp1	T	C	7: 79,442,906 (GRCm39)	I124V	probably damaging	Het
Mrgpra2a	A	T	7: 47,076,934 (GRCm39)	I108N	probably benign	Het
Nos1	G	T	5: 118,033,925 (GRCm39)	R349L	possibly damaging	Het
Or5k3	C	T	16: 58,969,327 (GRCm39)	T38I	probably damaging	Het
Or7c70	T	C	10: 78,683,615 (GRCm39)	I45V	probably benign	Het
Osgin1	T	A	8: 120,168,176 (GRCm39)	M1K	probably null	Het
Pde4dip	C	T	3: 97,601,379 (GRCm39)	S2346N	probably benign	Het
Pde7a	T	C	3: 19,285,258 (GRCm39)	M310V	probably benign	Het
Pigw	G	A	11: 84,768,585 (GRCm39)	T248M	probably damaging	Het
Pink1	T	C	4: 138,044,769 (GRCm39)	T323A	probably damaging	Het
Polr3a	C	T	14: 24,511,883 (GRCm39)	R891Q	probably damaging	Het
Prkar1b	C	A	5: 139,094,363 (GRCm39)	C75F	probably benign	Het
Prss58	C	T	6: 40,876,987 (GRCm39)		probably null	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Pttg1ip2	A	T	5: 5,516,631 (GRCm39)	D63E	possibly damaging	Het
Qars1	T	C	9: 108,389,971 (GRCm39)	I350T	probably damaging	Het
Qprt	T	C	7: 126,707,984 (GRCm39)	K149R	probably damaging	Het
Rasgrf1	T	A	9: 89,873,651 (GRCm39)	D653E	probably damaging	Het
Rbm26	T	C	14: 105,381,703 (GRCm39)	M481V	possibly damaging	Het
Rdx	C	T	9: 51,997,745 (GRCm39)	T573M	probably damaging	Het
Rgs14	A	G	13: 55,527,508 (GRCm39)		probably null	Het
Robo2	T	C	16: 73,753,438 (GRCm39)	E813G	probably damaging	Het
Rrbp1	A	T	2: 143,791,600 (GRCm39)	F1369I	probably benign	Het
Sh2d4b	T	A	14: 40,562,209 (GRCm39)	T319S	probably benign	Het
Slc7a15	G	T	12: 8,588,895 (GRCm39)	N217K	probably damaging	Het
Stmn1	A	G	4: 134,198,088 (GRCm39)	K42E	probably damaging	Het
Tbl2	T	G	5: 135,178,682 (GRCm39)	W31G	probably benign	Het
Tmem8b	T	C	4: 43,669,845 (GRCm39)	C114R	possibly damaging	Het
Tsc2	T	C	17: 24,832,254 (GRCm39)	S711G	probably benign	Het
Ttn	T	C	2: 76,666,904 (GRCm39)	R11531G	unknown	Het
Ube2e3	T	C	2: 78,744,085 (GRCm39)	Y105H	probably benign	Het
Usp16	G	T	16: 87,280,059 (GRCm39)	C753F	probably benign	Het
Vmn1r13	T	C	6: 57,187,239 (GRCm39)	S133P	possibly damaging	Het
Vmn2r76	T	A	7: 85,877,975 (GRCm39)	Q474L	probably benign	Het
Vps52	T	C	17: 34,184,262 (GRCm39)	I601T	probably benign	Het
Wasf1	A	T	10: 40,802,587 (GRCm39)	T81S	possibly damaging	Het
Wdr82	A	G	9: 106,048,532 (GRCm39)	S39G	probably benign	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
R0456:Zdhhc13	UTSW	7	48,458,602 (GRCm39)	missense	probably benign	0.03
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
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'- TGGGCCCTTCAGGAGAATTAG -3'
(R):5'- AGTCTGATAATCACACTGGAGC -3'

Sequencing Primer
(F):5'- GTATTTGCCTATCAGACAACGGAGC -3'
(R):5'- AAGGCATCTTACCGGATG -3'

Posted On

2019-05-15