Mutagenetix > Incidental Mutation

Incidental Mutation 'R1757:Zic2'

195008

Institutional Source

Beutler Lab

Gene Symbol

Zic2

Ensembl Gene

ENSMUSG00000061524

Gene Name

zinc finger protein of the cerebellum 2

Synonyms

odd-paired homolog, GENA 29, Ku

MMRRC Submission

039789-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R1757 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122712847-122717264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122716031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 384 (H384Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075888]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075888
AA Change: H384Q

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075283
Gene: ENSMUSG00000061524
AA Change: H384Q

Domain	Start	End	E-Value	Type
low complexity region	18	33	N/A	INTRINSIC
low complexity region	81	103	N/A	INTRINSIC
low complexity region	131	150	N/A	INTRINSIC
low complexity region	215	241	N/A	INTRINSIC
ZnF_C2H2	265	290	5.68e1	SMART
ZnF_C2H2	299	326	6.92e0	SMART
ZnF_C2H2	332	356	8.02e-5	SMART
ZnF_C2H2	362	386	1.69e-3	SMART
ZnF_C2H2	392	414	4.54e-4	SMART
low complexity region	416	434	N/A	INTRINSIC
low complexity region	455	519	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177306

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

100% (111/111)

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. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]
PHENOTYPE: Defects in neurulation and forebrain development have been identified in both targeted and ENU induced homozygous mutants. Death occurs perinatally in the targeted mouse and during midgestation in the ENU mouse. Mice homozygous for a knock-down allele exhibit cognitive and social behavior defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	A	T	14: 8,049,867 (GRCm38)	I219F	probably damaging	Het
Acvr1b	A	G	15: 101,096,703 (GRCm39)	I207V	possibly damaging	Het
Adamtsl4	T	C	3: 95,585,252 (GRCm39)	T839A	probably benign	Het
Akap1	C	T	11: 88,736,578 (GRCm39)	R61H	probably damaging	Het
Akap9	A	G	5: 4,051,667 (GRCm39)	D1478G	probably benign	Het
Aloxe3	T	A	11: 69,026,775 (GRCm39)	V547E	possibly damaging	Het
Ano6	G	A	15: 95,860,148 (GRCm39)	A757T	probably damaging	Het
Armc10	A	G	5: 21,858,455 (GRCm39)	T167A	probably damaging	Het
BB019430	A	C	10: 58,539,869 (GRCm39)		noncoding transcript	Het
Brms1	C	T	19: 5,096,435 (GRCm39)	R82W	probably damaging	Het
Btnl6	G	A	17: 34,733,062 (GRCm39)	T267I	probably benign	Het
Catsper4	A	T	4: 133,945,212 (GRCm39)	F215L	probably benign	Het
Ccdc188	T	C	16: 18,036,552 (GRCm39)	F197S	probably damaging	Het
Cers5	A	C	15: 99,634,212 (GRCm39)	C379G	probably benign	Het
Chchd6	A	G	6: 89,361,626 (GRCm39)	L259P	probably damaging	Het
Cntnap2	T	A	6: 46,736,763 (GRCm39)	C730S	probably damaging	Het
Coch	T	G	12: 51,649,631 (GRCm39)	V314G	probably damaging	Het
Cog1	T	A	11: 113,543,130 (GRCm39)	S213T	possibly damaging	Het
Crot	A	T	5: 9,037,828 (GRCm39)	F163I	probably damaging	Het
Cyp4f13	A	T	17: 33,148,932 (GRCm39)	I162N	probably damaging	Het
Dab2	A	T	15: 6,359,933 (GRCm39)		probably benign	Het
Depdc1b	C	T	13: 108,460,482 (GRCm39)	R31W	probably damaging	Het
Dlk1	T	C	12: 109,425,613 (GRCm39)	F161S	probably damaging	Het
Dnah6	T	C	6: 73,137,965 (GRCm39)	E913G	probably damaging	Het
Dnajc6	A	G	4: 101,455,028 (GRCm39)	Y5C	probably damaging	Het
Dock10	T	C	1: 80,511,586 (GRCm39)	T1508A	probably damaging	Het
Dstyk	A	G	1: 132,361,832 (GRCm39)		probably benign	Het
Efcc1	T	C	6: 87,726,265 (GRCm39)		probably benign	Het
Entpd1	T	C	19: 40,727,450 (GRCm39)	Y533H	probably benign	Het
Epha8	A	T	4: 136,658,789 (GRCm39)		probably null	Het
Erich3	C	T	3: 154,401,402 (GRCm39)	T17M	probably damaging	Het
Ethe1	T	C	7: 24,307,899 (GRCm39)		probably benign	Het
Fbxw15	A	T	9: 109,386,347 (GRCm39)	M211K	probably damaging	Het
Fhod3	G	A	18: 25,199,335 (GRCm39)	V669M	possibly damaging	Het
Fktn	C	T	4: 53,747,003 (GRCm39)		probably benign	Het
Foxred1	G	A	9: 35,122,130 (GRCm39)	R20C	probably benign	Het
Gbp9	A	G	5: 105,242,319 (GRCm39)	L140P	probably damaging	Het
Gga1	T	C	15: 78,773,230 (GRCm39)	L286P	probably damaging	Het
Gml	T	C	15: 74,685,462 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,486,035 (GRCm39)	K628N	probably damaging	Het
Gtf3c4	G	A	2: 28,720,648 (GRCm39)		probably benign	Het
H2-M10.6	A	C	17: 37,124,043 (GRCm39)	Y169S	probably benign	Het
Hal	G	A	10: 93,330,490 (GRCm39)	V245I	probably benign	Het
Hebp2	T	C	10: 18,420,849 (GRCm39)	Y72C	probably damaging	Het
Helz2	T	C	2: 180,878,056 (GRCm39)	E914G	probably damaging	Het
Herc3	T	C	6: 58,893,455 (GRCm39)	Y906H	probably damaging	Het
Hfm1	A	T	5: 107,028,226 (GRCm39)		probably null	Het
Hgs	C	T	11: 120,370,889 (GRCm39)	P582S	probably damaging	Het
Hoxa10	G	A	6: 52,211,469 (GRCm39)	P149L	probably damaging	Het
Inpp5j	T	A	11: 3,454,738 (GRCm39)	Q4L	possibly damaging	Het
Ints8	A	C	4: 11,254,109 (GRCm39)	M1R	probably null	Het
Isg15	T	C	4: 156,284,447 (GRCm39)	E27G	possibly damaging	Het
Klf13	A	T	7: 63,541,513 (GRCm39)	C205S	probably damaging	Het
Lama1	A	T	17: 68,070,831 (GRCm39)	Y830F	probably benign	Het
Lama1	G	A	17: 68,004,378 (GRCm39)	V17M	unknown	Het
Lama3	A	G	18: 12,598,556 (GRCm39)	N988D	probably benign	Het
Lcat	CAT	C	8: 106,668,446 (GRCm39)		probably null	Het
Lct	G	T	1: 128,228,994 (GRCm39)	P833H	probably damaging	Het
Lmf1	A	T	17: 25,874,184 (GRCm39)	R403W	probably damaging	Het
Me3	T	G	7: 89,282,230 (GRCm39)	S38A	probably benign	Het
Myg1	A	T	15: 102,240,264 (GRCm39)	D30V	probably benign	Het
Nbea	A	G	3: 55,537,610 (GRCm39)	I2841T	possibly damaging	Het
Nek1	T	A	8: 61,542,847 (GRCm39)		probably null	Het
Obsl1	C	T	1: 75,470,527 (GRCm39)	R1043H	probably benign	Het
Or4p23	G	T	2: 88,576,361 (GRCm39)	D290E	probably benign	Het
Or5b119	A	C	19: 13,456,971 (GRCm39)	V197G	possibly damaging	Het
Or6n2	A	T	1: 173,897,224 (GRCm39)	Y120F	probably damaging	Het
Or9m2	T	G	2: 87,820,926 (GRCm39)	I157R	probably damaging	Het
Osbpl9	A	G	4: 108,921,780 (GRCm39)	Y613H	probably damaging	Het
Per3	C	T	4: 151,127,249 (GRCm39)		probably null	Het
Pex6	G	T	17: 47,034,424 (GRCm39)	V758L	probably damaging	Het
Pikfyve	A	G	1: 65,291,707 (GRCm39)	I1309V	probably damaging	Het
Pimreg	A	G	11: 71,933,985 (GRCm39)	E37G	possibly damaging	Het
Pjvk	G	A	2: 76,486,232 (GRCm39)	V211I	probably benign	Het
Plekhg4	T	A	8: 106,108,293 (GRCm39)	V1112E	probably damaging	Het
Ptprz1	T	A	6: 23,044,319 (GRCm39)	M2106K	probably damaging	Het
Rdh16f2	G	T	10: 127,712,765 (GRCm39)	L254F	probably benign	Het
Rictor	G	A	15: 6,803,343 (GRCm39)	R485Q	possibly damaging	Het
Rnf146	G	A	10: 29,223,475 (GRCm39)	T137M	probably damaging	Het
Rrp9	T	A	9: 106,360,203 (GRCm39)	C204S	probably damaging	Het
Rxylt1	T	C	10: 121,924,920 (GRCm39)	T261A	probably benign	Het
Serpinb9h	T	C	13: 33,583,336 (GRCm39)	S150P	probably benign	Het
Shkbp1	T	C	7: 27,041,776 (GRCm39)	T693A	probably benign	Het
Skint9	A	G	4: 112,271,159 (GRCm39)	Y84H	probably benign	Het
Slc22a12	A	T	19: 6,586,761 (GRCm39)		probably null	Het
Slfn4	T	C	11: 83,076,211 (GRCm39)	C26R	possibly damaging	Het
Snrnp200	T	C	2: 127,074,363 (GRCm39)	L1401P	probably damaging	Het
Specc1	T	A	11: 62,010,110 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,717,568 (GRCm39)	M316K	probably damaging	Het
Tbc1d22b	A	G	17: 29,790,647 (GRCm39)	R204G	probably damaging	Het
Tektl1	T	C	10: 78,583,058 (GRCm39)	N442S	probably benign	Het
Tgfbr3l	C	A	8: 4,299,548 (GRCm39)	D110E	probably benign	Het
Ticrr	T	G	7: 79,325,071 (GRCm39)	S532R	probably damaging	Het
Ticrr	C	A	7: 79,328,794 (GRCm39)	Y644*	probably null	Het
Traf3ip1	A	T	1: 91,450,579 (GRCm39)	T509S	probably damaging	Het
Trmt10b	T	C	4: 45,307,946 (GRCm39)	Y209H	probably damaging	Het
Trmt6	T	C	2: 132,652,157 (GRCm39)	M172V	probably damaging	Het
Tsc1	A	G	2: 28,576,125 (GRCm39)	D978G	probably benign	Het
Tshz2	C	A	2: 169,725,843 (GRCm39)	F146L	probably benign	Het
Tspyl4	G	T	10: 34,173,576 (GRCm39)	E23*	probably null	Het
Ulk2	A	T	11: 61,732,165 (GRCm39)		probably benign	Het
Umodl1	A	T	17: 31,227,674 (GRCm39)	I1336F	probably damaging	Het
Vezt	T	C	10: 93,806,425 (GRCm39)	D662G	probably benign	Het
Vnn1	G	T	10: 23,776,727 (GRCm39)	Q359H	probably benign	Het
Vnn1	A	T	10: 23,776,726 (GRCm39)	Q359L	possibly damaging	Het
Zdhhc16	A	G	19: 41,930,394 (GRCm39)	N14S	probably damaging	Het
Zfp455	T	C	13: 67,355,601 (GRCm39)	S225P	probably damaging	Het
Zfp74	T	A	7: 29,634,486 (GRCm39)	E407D	probably benign	Het

Other mutations in Zic2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Zic2	APN	14	122,715,971 (GRCm39)	nonsense	probably null
IGL01607:Zic2	APN	14	122,716,294 (GRCm39)	splice site	probably benign
IGL02307:Zic2	APN	14	122,714,046 (GRCm39)	missense	possibly damaging	0.76
IGL02311:Zic2	APN	14	122,713,606 (GRCm39)	missense	probably damaging	0.99
IGL02561:Zic2	APN	14	122,715,957 (GRCm39)	nonsense	probably null
IGL02982:Zic2	APN	14	122,715,979 (GRCm39)	missense	probably damaging	0.98
R0001:Zic2	UTSW	14	122,716,369 (GRCm39)	missense	probably damaging	0.99
R0027:Zic2	UTSW	14	122,713,755 (GRCm39)	missense	possibly damaging	0.77
R0136:Zic2	UTSW	14	122,713,953 (GRCm39)	missense	probably damaging	0.96
R0310:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0418:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0420:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0421:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0518:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0520:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0521:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0628:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R1733:Zic2	UTSW	14	122,716,359 (GRCm39)	missense	probably damaging	0.97
R2398:Zic2	UTSW	14	122,716,329 (GRCm39)	nonsense	probably null
R5323:Zic2	UTSW	14	122,713,728 (GRCm39)	missense	probably damaging	1.00
R5381:Zic2	UTSW	14	122,713,227 (GRCm39)	missense	probably damaging	0.97
R6930:Zic2	UTSW	14	122,713,869 (GRCm39)	missense	probably damaging	0.99
R7223:Zic2	UTSW	14	122,713,503 (GRCm39)	missense	probably damaging	0.98
R8750:Zic2	UTSW	14	122,714,129 (GRCm39)	missense	probably benign	0.06
R8852:Zic2	UTSW	14	122,713,530 (GRCm39)	missense	possibly damaging	0.92
R8860:Zic2	UTSW	14	122,713,530 (GRCm39)	missense	possibly damaging	0.92
Z1088:Zic2	UTSW	14	122,716,087 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCAACTTGTTAGGGAGCTGGGAATC -3'
(R):5'- TCATGGACCTGGAAGACAAAAGCC -3'

Sequencing Primer
(F):5'- ACCTGTTTCAGAGACTCAGC -3'
(R):5'- CAAGAGCGTCCCTCGAC -3'

Posted On

2014-05-23