Mutagenetix > Incidental Mutation

Incidental Mutation 'R2020:Zic5'

277470

Institutional Source

Beutler Lab

Gene Symbol

Zic5

Ensembl Gene

ENSMUSG00000041703

Gene Name

zinc finger protein of the cerebellum 5

Synonyms

odd-paired related, 1700049L20Rik, Opr

MMRRC Submission

040029-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2020 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

122696572-122703127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122702242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 163 (G163D)

Ref Sequence

ENSEMBL: ENSMUSP00000035754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039118]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000039118
AA Change: G163D

SMART Domains

Protein: ENSMUSP00000035754
Gene: ENSMUSG00000041703
AA Change: G163D

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
low complexity region	116	154	N/A	INTRINSIC
low complexity region	160	171	N/A	INTRINSIC
low complexity region	182	192	N/A	INTRINSIC
low complexity region	200	214	N/A	INTRINSIC
low complexity region	284	303	N/A	INTRINSIC
low complexity region	309	353	N/A	INTRINSIC
ZnF_C2H2	390	408	2.2e2	SMART
ZnF_C2H2	417	444	2.14e0	SMART
ZnF_C2H2	450	474	8.02e-5	SMART
ZnF_C2H2	480	504	2.53e-2	SMART
ZnF_C2H2	510	534	7.49e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143084

Meta Mutation Damage Score

0.0925

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

99% (87/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 2, a related family member on chromosome 13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality and reduced life spans with exencephaly, abnormal cerebral cortex and diencephalon morphology, abnormal gait and posture, and impaired growth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	A	1: 158,796,482 (GRCm39)		noncoding transcript	Het
Adam17	G	A	12: 21,399,876 (GRCm39)	R177C	probably damaging	Het
Ak7	G	A	12: 105,711,591 (GRCm39)		probably null	Het
Akap9	T	C	5: 4,011,967 (GRCm39)	V890A	probably damaging	Het
Alg6	A	G	4: 99,626,369 (GRCm39)	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,429,375 (GRCm39)	A43S	probably benign	Het
Anxa2	C	A	9: 69,391,099 (GRCm39)	D162E	probably damaging	Het
Arap1	A	G	7: 101,050,725 (GRCm39)	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,730,900 (GRCm39)	R121G	probably benign	Het
Arhgef4	A	T	1: 34,762,891 (GRCm39)	T716S	unknown	Het
Atg2a	T	C	19: 6,300,299 (GRCm39)		probably null	Het
Ccdc27	T	C	4: 154,117,770 (GRCm39)	I480V	probably null	Het
Cdipt	T	C	7: 126,576,105 (GRCm39)	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 47,067,902 (GRCm39)		probably benign	Het
Chd7	G	A	4: 8,855,226 (GRCm39)	V2152I	probably benign	Het
Chd8	T	A	14: 52,452,698 (GRCm39)	S1274C	probably damaging	Het
Chuk	A	T	19: 44,095,782 (GRCm39)	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,309,577 (GRCm39)		probably benign	Het
Col20a1	G	A	2: 180,654,956 (GRCm39)		probably null	Het
Cped1	A	G	6: 22,143,963 (GRCm39)	I570V	probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Ddx27	A	C	2: 166,875,691 (GRCm39)	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,333,158 (GRCm39)	F131L	probably damaging	Het
Dhx38	G	A	8: 110,283,501 (GRCm39)		probably benign	Het
Dido1	G	T	2: 180,301,378 (GRCm39)	N2175K	unknown	Het
Dmxl1	T	A	18: 50,022,625 (GRCm39)	Y1654*	probably null	Het
Dock7	T	A	4: 98,847,338 (GRCm39)	H1658L	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Dync2h1	T	C	9: 7,162,925 (GRCm39)	I555V	probably benign	Het
Eif2ak2	T	C	17: 79,171,392 (GRCm39)	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,315,209 (GRCm39)	D46V	probably benign	Het
Fcgbpl1	T	C	7: 27,855,019 (GRCm39)	S1882P	probably benign	Het
Fech	C	T	18: 64,611,798 (GRCm39)	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,362 (GRCm39)	I693F	probably damaging	Het
Foxp2	G	A	6: 15,324,643 (GRCm39)	C97Y	possibly damaging	Het
Grin2b	A	G	6: 135,710,894 (GRCm39)	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,445,947 (GRCm39)	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,723,906 (GRCm39)	G468W	possibly damaging	Het
Ift172	A	T	5: 31,424,585 (GRCm39)	L201*	probably null	Het
Ift70a1	A	G	2: 75,811,279 (GRCm39)	V268A	probably benign	Het
Il1rl2	C	A	1: 40,404,374 (GRCm39)	S498R	probably damaging	Het
Ildr1	C	T	16: 36,545,903 (GRCm39)	R489W	probably damaging	Het
Itga10	G	A	3: 96,559,806 (GRCm39)	G487D	probably damaging	Het
Klk1b8	A	G	7: 43,448,640 (GRCm39)	N128D	probably benign	Het
Lgr6	G	A	1: 135,003,013 (GRCm39)	T79M	probably damaging	Het
Med6	T	C	12: 81,620,651 (GRCm39)	T232A	probably benign	Het
Mgat4e	A	G	1: 134,469,060 (GRCm39)	L328P	probably damaging	Het
Mttp	A	G	3: 137,824,163 (GRCm39)	Y138H	probably damaging	Het
Ngef	T	C	1: 87,473,690 (GRCm39)	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,830,287 (GRCm39)		probably null	Het
Nlgn2	G	T	11: 69,719,267 (GRCm39)	N194K	probably damaging	Het
Or1q1	G	A	2: 36,887,664 (GRCm39)	V281M	possibly damaging	Het
Or4a72	A	T	2: 89,405,305 (GRCm39)	M255K	possibly damaging	Het
Or5b98	G	A	19: 12,931,696 (GRCm39)	V248I	possibly damaging	Het
Or5m13b	A	G	2: 85,754,087 (GRCm39)	I158M	probably benign	Het
Or8c16	A	G	9: 38,130,728 (GRCm39)	Y203C	possibly damaging	Het
Pcca	T	A	14: 123,050,634 (GRCm39)	M101K	possibly damaging	Het
Plekha6	A	G	1: 133,212,708 (GRCm39)	T671A	possibly damaging	Het
Prex2	G	A	1: 11,232,536 (GRCm39)	V868M	probably damaging	Het
Prkcq	G	A	2: 11,284,332 (GRCm39)	V501I	probably benign	Het
Prom1	T	A	5: 44,168,595 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 76,051,398 (GRCm39)	V41A	probably damaging	Het
Rab39	C	T	9: 53,597,698 (GRCm39)	G189E	possibly damaging	Het
Ret	T	C	6: 118,157,343 (GRCm39)	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,596,153 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,352,744 (GRCm39)	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,072,665 (GRCm39)	N336S	probably damaging	Het
Sag	G	A	1: 87,733,037 (GRCm39)	A2T	probably damaging	Het
Sco2	T	C	15: 89,256,063 (GRCm39)	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,408,864 (GRCm39)	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,781,377 (GRCm39)	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,727,339 (GRCm39)	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,586,013 (GRCm39)	L17P	probably damaging	Het
Sqor	T	C	2: 122,646,027 (GRCm39)		probably null	Het
Stx18	A	G	5: 38,292,588 (GRCm39)	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,607,732 (GRCm39)	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,570,658 (GRCm39)	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,060,765 (GRCm39)	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,074,305 (GRCm39)	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,270,384 (GRCm39)	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,655,773 (GRCm39)	S751P	probably damaging	Het
Ttn	A	G	2: 76,657,368 (GRCm39)		probably benign	Het
Ugdh	T	C	5: 65,574,268 (GRCm39)	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,578,094 (GRCm39)	L273F	probably null	Het
Vmn2r109	A	T	17: 20,761,448 (GRCm39)	C636*	probably null	Het
Vmn2r59	A	C	7: 41,693,203 (GRCm39)	Y466D	probably damaging	Het

Other mutations in Zic5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02157:Zic5	APN	14	122,696,924 (GRCm39)	missense	unknown
Ezekiel	UTSW	14	122,702,566 (GRCm39)	missense	unknown
R0227:Zic5	UTSW	14	122,697,073 (GRCm39)	missense	unknown
R0646:Zic5	UTSW	14	122,701,351 (GRCm39)	missense	unknown
R1327:Zic5	UTSW	14	122,697,191 (GRCm39)	splice site	probably benign
R1387:Zic5	UTSW	14	122,696,897 (GRCm39)	missense	unknown
R1665:Zic5	UTSW	14	122,696,939 (GRCm39)	missense	unknown
R2571:Zic5	UTSW	14	122,696,890 (GRCm39)	missense	unknown
R4241:Zic5	UTSW	14	122,702,075 (GRCm39)	missense	probably benign	0.03
R4610:Zic5	UTSW	14	122,702,212 (GRCm39)	missense	probably damaging	0.98
R4706:Zic5	UTSW	14	122,696,969 (GRCm39)	missense	unknown
R5496:Zic5	UTSW	14	122,696,755 (GRCm39)	missense	unknown
R6178:Zic5	UTSW	14	122,696,748 (GRCm39)	missense	unknown
R6189:Zic5	UTSW	14	122,702,386 (GRCm39)	missense	unknown
R6332:Zic5	UTSW	14	122,697,161 (GRCm39)	missense	unknown
R6485:Zic5	UTSW	14	122,697,052 (GRCm39)	missense	unknown
R6564:Zic5	UTSW	14	122,696,833 (GRCm39)	missense	unknown
R6677:Zic5	UTSW	14	122,702,566 (GRCm39)	missense	unknown
R6877:Zic5	UTSW	14	122,697,100 (GRCm39)	missense	unknown
R6977:Zic5	UTSW	14	122,696,967 (GRCm39)	small deletion	probably benign
R6977:Zic5	UTSW	14	122,696,960 (GRCm39)	missense	unknown
R6978:Zic5	UTSW	14	122,696,967 (GRCm39)	small deletion	probably benign
R6978:Zic5	UTSW	14	122,696,960 (GRCm39)	missense	unknown
R6996:Zic5	UTSW	14	122,702,080 (GRCm39)	missense	probably benign	0.02
R7713:Zic5	UTSW	14	122,701,525 (GRCm39)	missense	unknown
R8492:Zic5	UTSW	14	122,702,474 (GRCm39)	missense	unknown
R9612:Zic5	UTSW	14	122,697,100 (GRCm39)	missense	unknown
R9632:Zic5	UTSW	14	122,701,787 (GRCm39)	missense	unknown
R9688:Zic5	UTSW	14	122,701,435 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGCCGAGATGAACATCCC -3'
(R):5'- AGAATATGACAGGCTTCCCG -3'

Sequencing Primer
(F):5'- AGATGAACATCCCGGCCG -3'
(R):5'- TCGGACCCGAGCACATG -3'

Posted On

2015-04-06