Mutagenetix > Incidental Mutation

Incidental Mutation 'R6978:Zic5'

542584

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

045086-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6978 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

122696572-122703127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122696960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 552 (T552A)

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: T552A

SMART Domains

Protein: ENSMUSP00000035754
Gene: ENSMUSG00000041703
AA Change: T552A

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

Meta Mutation Damage Score

0.0911

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprh	C	T	16: 38,266,171 (GRCm39)	G324S	probably damaging	Het
Amfr	T	C	8: 94,727,015 (GRCm39)	E140G	probably damaging	Het
Anapc1	G	T	2: 128,511,820 (GRCm39)	Q458K	probably benign	Het
Ap1g1	T	C	8: 110,554,968 (GRCm39)		probably null	Het
Arhgap45	G	T	10: 79,857,682 (GRCm39)	V211F	probably benign	Het
Baz2b	T	C	2: 59,738,059 (GRCm39)	E1750G	possibly damaging	Het
Cmpk2	A	T	12: 26,527,018 (GRCm39)	T336S	probably damaging	Het
Col6a3	C	T	1: 90,735,192 (GRCm39)		probably null	Het
Cyp2c29	T	C	19: 39,310,107 (GRCm39)	L272P	probably damaging	Het
Cyp3a13	A	T	5: 137,903,801 (GRCm39)	S286T	probably benign	Het
Cyp4f18	T	G	8: 72,756,340 (GRCm39)	S79R	probably benign	Het
Dio1	T	C	4: 107,164,030 (GRCm39)	T96A	probably benign	Het
Dnah7a	T	C	1: 53,701,526 (GRCm39)	I210V	probably null	Het
Epha4	A	G	1: 77,354,220 (GRCm39)	Y841H	probably damaging	Het
Gm12695	T	C	4: 96,657,959 (GRCm39)	D70G	possibly damaging	Het
Gtf3c1	G	T	7: 125,244,706 (GRCm39)	T1680K	possibly damaging	Het
Hnrnpul2	T	C	19: 8,801,640 (GRCm39)	V314A	probably damaging	Het
Irx3	G	T	8: 92,527,356 (GRCm39)	P116Q	probably damaging	Het
Lrp4	C	T	2: 91,322,343 (GRCm39)	R1060C	probably damaging	Het
Mark3	G	A	12: 111,593,582 (GRCm39)	V205I	probably benign	Het
Mchr1	T	C	15: 81,121,997 (GRCm39)	L249P	possibly damaging	Het
Med26	T	C	8: 73,250,427 (GRCm39)	N224S	possibly damaging	Het
Megf9	C	T	4: 70,351,766 (GRCm39)	V452I	probably benign	Het
Mki67	T	C	7: 135,303,691 (GRCm39)	R726G	probably benign	Het
Mst1r	T	A	9: 107,789,793 (GRCm39)	L583Q	probably benign	Het
Mybpc1	A	G	10: 88,358,886 (GRCm39)	C1102R	probably damaging	Het
Nr6a1	T	C	2: 38,762,631 (GRCm39)	T55A	probably benign	Het
Nup210l	G	A	3: 90,061,873 (GRCm39)	R684Q	possibly damaging	Het
Or13a24	A	C	7: 140,154,200 (GRCm39)	I45L	probably damaging	Het
Or4f7	T	A	2: 111,644,155 (GRCm39)	L305F	probably benign	Het
Or6x1	C	T	9: 40,099,085 (GRCm39)	R225W	probably damaging	Het
Pgbd1	A	G	13: 21,607,432 (GRCm39)	L254P	probably damaging	Het
Pou6f2	A	G	13: 18,347,063 (GRCm39)	F10L	probably damaging	Het
Ppfia3	T	A	7: 44,996,272 (GRCm39)	T726S	probably benign	Het
Rab21	T	A	10: 115,134,766 (GRCm39)	M118L	possibly damaging	Het
Rbm6	T	C	9: 107,729,774 (GRCm39)		probably null	Het
Rmc1	T	C	18: 12,318,804 (GRCm39)	Y430H	probably benign	Het
Rpp38	A	G	2: 3,330,758 (GRCm39)	L48P	probably damaging	Het
Sart3	A	T	5: 113,883,807 (GRCm39)	I735N	probably damaging	Het
Slc44a1	T	A	4: 53,544,671 (GRCm39)	Y461N	probably damaging	Het
Smok2b	A	T	17: 13,455,295 (GRCm39)	*485L	probably null	Het
Speer4a2	C	A	5: 26,291,454 (GRCm39)	E117D	probably damaging	Het
Spink8	T	C	9: 109,649,725 (GRCm39)	V69A	probably benign	Het
Spred2	G	A	11: 19,948,254 (GRCm39)	R83Q	possibly damaging	Het
Tmc1	T	C	19: 20,781,999 (GRCm39)	N573S	probably damaging	Het
Tmem275	C	T	4: 115,755,560 (GRCm39)	Q120*	probably null	Het
Tox4	G	T	14: 52,524,694 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,839,259 (GRCm39)	S531G	probably benign	Het
Vmn2r56	C	T	7: 12,449,333 (GRCm39)	V302I	probably benign	Het
Ypel1	C	T	16: 16,902,438 (GRCm39)	A110V	probably benign	Het
Zfp395	G	A	14: 65,623,882 (GRCm39)	R117H	probably benign	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
R2020:Zic5	UTSW	14	122,702,242 (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
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'- CTTCAGACTCAGAGGTGGTTCC -3'
(R):5'- TTACAGGGGAAAAGCCTTTCAAATG -3'

Sequencing Primer
(F):5'- AGACTCAGAGGTGGTTCCATTGC -3'
(R):5'- GCCTTTCAAATGTGAATTTGACGG -3'

Posted On

2018-11-28