Mutagenetix > Incidental Mutation

Incidental Mutation 'R7876:Zdhhc23'

608461

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc23

Ensembl Gene

ENSMUSG00000036304

Gene Name

zinc finger, DHHC domain containing 23

Synonyms

LOC385651, LOC332175

MMRRC Submission

045928-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7876 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43785396-43800154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43789663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 375 (V375E)

Ref Sequence

ENSEMBL: ENSMUSP00000128650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036321] [ENSMUST00000132859] [ENSMUST00000165648] [ENSMUST00000178400] [ENSMUST00000231700] [ENSMUST00000232055]

AlphaFold

Q5Y5T3

Predicted Effect

probably damaging
Transcript: ENSMUST00000036321
AA Change: V372E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044744
Gene: ENSMUSG00000036304
AA Change: V372E

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
transmembrane domain	82	99	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	132	151	N/A	INTRINSIC
Pfam:zf-DHHC	175	378	3.8e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122440

SMART Domains

Protein: ENSMUSP00000113814
Gene: ENSMUSG00000022701

Domain	Start	End	E-Value	Type
coiled coil region	114	147	N/A	INTRINSIC
coiled coil region	211	284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132859

SMART Domains

Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701

Domain	Start	End	E-Value	Type
coiled coil region	144	183	N/A	INTRINSIC
coiled coil region	217	237	N/A	INTRINSIC
coiled coil region	278	308	N/A	INTRINSIC
low complexity region	349	368	N/A	INTRINSIC
coiled coil region	471	504	N/A	INTRINSIC
coiled coil region	568	641	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165648
AA Change: V375E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128650
Gene: ENSMUSG00000036304
AA Change: V375E

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
transmembrane domain	82	99	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	132	151	N/A	INTRINSIC
transmembrane domain	161	180	N/A	INTRINSIC
Pfam:zf-DHHC	244	378	8.4e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178400

SMART Domains

Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701

Domain	Start	End	E-Value	Type
coiled coil region	202	241	N/A	INTRINSIC
coiled coil region	275	295	N/A	INTRINSIC
coiled coil region	336	366	N/A	INTRINSIC
low complexity region	407	426	N/A	INTRINSIC
coiled coil region	529	562	N/A	INTRINSIC
coiled coil region	626	699	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000231700
AA Change: V375E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000232055
AA Change: V338E

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

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

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,760,439 (GRCm39)	K65R	probably benign	Het
Adprhl1	T	C	8: 13,273,509 (GRCm39)	D1083G	probably benign	Het
Aox1	C	T	1: 58,101,330 (GRCm39)	Q434*	probably null	Het
Atp13a5	T	A	16: 29,140,566 (GRCm39)	N330I	possibly damaging	Het
Brd8	A	G	18: 34,739,740 (GRCm39)	F678L	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C87436	T	A	6: 86,423,411 (GRCm39)		probably null	Het
Cacna1h	A	T	17: 25,594,225 (GRCm39)	I2311K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cux1	T	C	5: 136,392,161 (GRCm39)	T187A	probably benign	Het
Dip2b	A	G	15: 100,088,922 (GRCm39)	I1031V	probably benign	Het
Efna5	T	C	17: 62,957,929 (GRCm39)	N109S	possibly damaging	Het
Fat2	A	T	11: 55,202,046 (GRCm39)	S343T	probably benign	Het
Fubp1	T	C	3: 151,937,928 (GRCm39)	Y654H	unknown	Het
Gbe1	G	A	16: 70,238,059 (GRCm39)	V282I	probably benign	Het
Grik1	T	C	16: 87,720,121 (GRCm39)	K719E		Het
Grm6	A	T	11: 50,750,457 (GRCm39)	Y540F	probably damaging	Het
Hmcn1	C	T	1: 150,620,722 (GRCm39)	V1163I	probably benign	Het
Igkv4-53	T	A	6: 69,625,987 (GRCm39)	Q60L	possibly damaging	Het
Igkv4-59	A	T	6: 69,415,337 (GRCm39)	S73T	probably damaging	Het
Il1a	A	C	2: 129,142,762 (GRCm39)	W228G	probably damaging	Het
Klk13	A	G	7: 43,370,403 (GRCm39)	D22G	probably benign	Het
Kntc1	T	A	5: 123,913,850 (GRCm39)	C602S	probably damaging	Het
Kras	T	C	6: 145,170,848 (GRCm39)	K176E	probably benign	Het
Krtap5-4	G	A	7: 141,857,585 (GRCm39)	C85Y	unknown	Het
Map3k13	A	G	16: 21,741,069 (GRCm39)	T799A	probably benign	Het
Mfhas1	T	C	8: 36,056,697 (GRCm39)	Y391H	probably damaging	Het
Morf4l1	G	A	9: 89,975,859 (GRCm39)	A311V	possibly damaging	Het
Ms4a8a	T	A	19: 11,056,848 (GRCm39)	Q78L	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nav3	T	C	10: 109,689,359 (GRCm39)	N306S	probably benign	Het
Ncapd3	T	C	9: 26,956,519 (GRCm39)		probably null	Het
Nrg2	T	A	18: 36,330,140 (GRCm39)	Y25F	unknown	Het
Nup153	C	T	13: 46,835,084 (GRCm39)	S1407N	probably benign	Het
Or2c1	T	A	16: 3,656,658 (GRCm39)		probably null	Het
Or4c99	A	G	2: 88,329,999 (GRCm39)	Y190C	probably damaging	Het
Or5b123	A	G	19: 13,596,628 (GRCm39)	Y34C	probably damaging	Het
Pcf11	A	C	7: 92,310,534 (GRCm39)	S485A	probably damaging	Het
Pde8a	A	G	7: 80,973,819 (GRCm39)	D592G	probably damaging	Het
Perm1	G	A	4: 156,302,046 (GRCm39)	G197R	probably damaging	Het
Pigo	A	T	4: 43,020,671 (GRCm39)	M757K	probably benign	Het
Pls1	G	A	9: 95,667,558 (GRCm39)	Q117*	probably null	Het
Plscr2	T	C	9: 92,169,781 (GRCm39)	V77A	probably benign	Het
Polm	T	C	11: 5,781,695 (GRCm39)	E267G	probably benign	Het
Pomgnt1	A	T	4: 116,015,106 (GRCm39)	K519M	probably damaging	Het
Ralyl	G	A	3: 14,104,850 (GRCm39)		probably null	Het
Rhbdd3	C	T	11: 5,055,832 (GRCm39)	T338I	possibly damaging	Het
Rnf31	T	C	14: 55,830,534 (GRCm39)		probably null	Het
Slc51a	A	T	16: 32,297,601 (GRCm39)	S99T	probably benign	Het
Sorbs1	A	T	19: 40,285,032 (GRCm39)	L700H	probably damaging	Het
Tdrd7	G	A	4: 46,025,684 (GRCm39)	V835I	probably benign	Het
Tmcc3	T	C	10: 94,414,397 (GRCm39)	V64A	probably benign	Het
Tmprss5	A	G	9: 49,020,391 (GRCm39)	S140G	probably benign	Het
Tspan11	G	T	6: 127,900,629 (GRCm39)	V67F	possibly damaging	Het
Usp42	T	C	5: 143,707,426 (GRCm39)	T252A	probably damaging	Het
Vmn2r97	A	T	17: 19,149,326 (GRCm39)	E238V	probably damaging	Het
Wdpcp	T	A	11: 21,661,486 (GRCm39)	W253R	probably benign	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het
Zmym1	A	T	4: 126,941,496 (GRCm39)	M964K	probably damaging	Het

Other mutations in Zdhhc23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Zdhhc23	APN	16	43,793,843 (GRCm39)	missense	probably damaging	1.00
R0179:Zdhhc23	UTSW	16	43,794,066 (GRCm39)	missense	probably benign	0.06
R0180:Zdhhc23	UTSW	16	43,794,066 (GRCm39)	missense	probably benign	0.06
R1367:Zdhhc23	UTSW	16	43,794,513 (GRCm39)	missense	probably benign	0.04
R1557:Zdhhc23	UTSW	16	43,791,829 (GRCm39)	missense	possibly damaging	0.63
R1997:Zdhhc23	UTSW	16	43,799,305 (GRCm39)	missense	probably damaging	1.00
R2035:Zdhhc23	UTSW	16	43,793,871 (GRCm39)	missense	probably damaging	1.00
R2153:Zdhhc23	UTSW	16	43,794,282 (GRCm39)	missense	probably benign	0.03
R2497:Zdhhc23	UTSW	16	43,794,278 (GRCm39)	missense	probably damaging	1.00
R3432:Zdhhc23	UTSW	16	43,794,533 (GRCm39)	splice site	probably benign
R4776:Zdhhc23	UTSW	16	43,793,952 (GRCm39)	missense	possibly damaging	0.79
R5067:Zdhhc23	UTSW	16	43,794,134 (GRCm39)	missense	probably benign	0.00
R7086:Zdhhc23	UTSW	16	43,791,873 (GRCm39)	missense	probably damaging	0.98
R7840:Zdhhc23	UTSW	16	43,791,907 (GRCm39)	missense	possibly damaging	0.93
R8416:Zdhhc23	UTSW	16	43,791,927 (GRCm39)	missense	probably damaging	1.00
R8843:Zdhhc23	UTSW	16	43,794,227 (GRCm39)	missense	probably damaging	0.99
R9394:Zdhhc23	UTSW	16	43,791,826 (GRCm39)	missense	probably damaging	1.00
R9491:Zdhhc23	UTSW	16	43,794,062 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGGAAATGAATCCTGCATGG -3'
(R):5'- CGCTTGAGTCCCTACTGACAAG -3'

Sequencing Primer
(F):5'- TGCATGGACACTGACGTG -3'
(R):5'- GAGTCCCTACTGACAAGTACAAAATG -3'

Posted On

2019-12-20