Mutagenetix > Incidental Mutation

Incidental Mutation 'R5496:Zic5'

432376

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

043057-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5496 (G1)

Quality Score

122

Status

Not validated

Chromosome

Chromosomal Location

122696572-122703127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122696755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 620 (T620M)

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: T620M

SMART Domains

Protein: ENSMUSP00000035754
Gene: ENSMUSG00000041703
AA Change: T620M

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

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.2%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,724,818 (GRCm39)	V84I	probably benign	Het
Adam10	T	G	9: 70,630,021 (GRCm39)	F151C	probably damaging	Het
Akap6	A	G	12: 53,187,436 (GRCm39)	S1617G	possibly damaging	Het
Ano6	T	A	15: 95,865,495 (GRCm39)		probably null	Het
Atmin	A	G	8: 117,683,911 (GRCm39)	T524A	probably benign	Het
Bicra	C	T	7: 15,721,766 (GRCm39)	V584I	probably benign	Het
Carmil1	G	A	13: 24,339,433 (GRCm39)	R54C	probably damaging	Het
Cbln1	A	G	8: 88,198,324 (GRCm39)	I127T	possibly damaging	Het
Ccl26	A	G	5: 135,592,217 (GRCm39)	V40A	probably benign	Het
Cdh20	T	A	1: 109,976,647 (GRCm39)	I104N	probably damaging	Het
Cdt1	C	T	8: 123,297,239 (GRCm39)	R311W	probably damaging	Het
Cfap91	A	G	16: 38,141,855 (GRCm39)	I359T	probably damaging	Het
Col12a1	A	G	9: 79,509,467 (GRCm39)		probably benign	Het
Csf2rb	A	G	15: 78,224,761 (GRCm39)	E173G	probably damaging	Het
Cyb561	A	G	11: 105,828,545 (GRCm39)	Y94H	probably damaging	Het
Cyp3a16	T	A	5: 145,404,341 (GRCm39)	K34M	probably damaging	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dnah7a	T	G	1: 53,496,927 (GRCm39)	M3110L	probably benign	Het
Dyrk2	T	C	10: 118,695,956 (GRCm39)	E434G	probably damaging	Het
Ebag9	T	G	15: 44,503,816 (GRCm39)	*214E	probably null	Het
Egln3	A	T	12: 54,250,110 (GRCm39)	W80R	probably damaging	Het
Eps15l1	A	G	8: 73,136,619 (GRCm39)	Y336H	probably benign	Het
Gak	A	G	5: 108,724,483 (GRCm39)	S1076P	probably benign	Het
Glra1	T	C	11: 55,418,241 (GRCm39)	Y168C	probably damaging	Het
Glrx2	T	A	1: 143,620,945 (GRCm39)	M108K	probably damaging	Het
Gm3604	A	T	13: 62,519,393 (GRCm39)	S59T	possibly damaging	Het
Gm8212	A	T	14: 44,438,614 (GRCm39)		probably benign	Het
Gmcl1	G	T	6: 86,674,507 (GRCm39)	A457D	probably damaging	Het
H2-M11	T	C	17: 36,858,871 (GRCm39)	F137S	possibly damaging	Het
Ighv1-55	C	G	12: 115,172,140 (GRCm39)	W3S	probably damaging	Het
Il22	T	G	10: 118,041,002 (GRCm39)	V36G	possibly damaging	Het
Ints1	G	A	5: 139,740,953 (GRCm39)	A1904V	probably benign	Het
Iqgap2	A	G	13: 95,766,561 (GRCm39)	Y1481H	probably damaging	Het
Kcnn3	C	T	3: 89,516,797 (GRCm39)	A402V	possibly damaging	Het
Kif18b	A	T	11: 102,804,568 (GRCm39)	I362N	possibly damaging	Het
Kif5c	C	G	2: 49,620,202 (GRCm39)	A223G	possibly damaging	Het
Kntc1	A	G	5: 123,922,245 (GRCm39)	D948G	probably benign	Het
Krba1	A	G	6: 48,383,290 (GRCm39)	T229A	possibly damaging	Het
Leprot	T	A	4: 101,515,093 (GRCm39)	I113N	probably damaging	Het
Lrp1b	T	C	2: 40,817,985 (GRCm39)	D2415G	probably benign	Het
Mnd1	T	A	3: 83,995,481 (GRCm39)	D171V	probably damaging	Het
Mthfsd	A	T	8: 121,825,553 (GRCm39)	Y339*	probably null	Het
Nfatc2	G	A	2: 168,378,198 (GRCm39)	T268M	probably damaging	Het
Or14j10	T	C	17: 37,935,469 (GRCm39)	D19G	probably benign	Het
Or52d3	G	C	7: 104,229,701 (GRCm39)	A283P	probably damaging	Het
Or8h7	G	T	2: 86,720,658 (GRCm39)	P287Q	probably damaging	Het
Or8h7	G	C	2: 86,720,659 (GRCm39)	P287A	probably damaging	Het
Pan3	G	A	5: 147,463,938 (GRCm39)		probably null	Het
Pde6a	A	T	18: 61,386,736 (GRCm39)		probably null	Het
Prss39	T	C	1: 34,539,342 (GRCm39)	I194T	possibly damaging	Het
Rfx8	T	C	1: 39,709,507 (GRCm39)	S507G	probably benign	Het
Rif1	T	C	2: 51,988,928 (GRCm39)	S774P	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Smurf1	C	A	5: 144,819,403 (GRCm39)	E601*	probably null	Het
Stau2	T	C	1: 16,460,245 (GRCm39)	S231G	probably damaging	Het
Timp2	T	G	11: 118,194,707 (GRCm39)	M161L	probably benign	Het
Tlr5	T	C	1: 182,801,197 (GRCm39)	L167P	probably damaging	Het
Trhr	G	A	15: 44,060,932 (GRCm39)	A151T	probably benign	Het
Unc13d	A	G	11: 115,957,534 (GRCm39)	V807A	probably damaging	Het
Usp2	T	C	9: 43,996,505 (GRCm39)	V7A	possibly damaging	Het
Uspl1	A	G	5: 149,146,589 (GRCm39)	T447A	probably damaging	Het
Zan	A	G	5: 137,434,607 (GRCm39)	I2232T	unknown	Het
Zfp12	C	A	5: 143,230,550 (GRCm39)	C292*	probably null	Het
Zfp850	A	C	7: 27,706,771 (GRCm39)	M43R	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
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
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'- CTGCGATGTACAAGTCCGAC -3'
(R):5'- CATGAAGATTCACTGCAAGTCCCC -3'

Sequencing Primer
(F):5'- ATGCTAGGCAAGTGCTCTAC -3'
(R):5'- GCTCTTGGCTACTCGTCGG -3'

Posted On

2016-10-05