Mutagenetix > Incidental Mutation

Incidental Mutation 'R6996:Zic5'

544240

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

045102-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6996 (G1)

Quality Score

201.009

Status

Not validated

Chromosome

Chromosomal Location

122696572-122703127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122702080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 217 (M217K)

Ref Sequence

ENSEMBL: ENSMUSP00000035754 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039118
AA Change: M217K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000035754
Gene: ENSMUSG00000041703
AA Change: M217K

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

Coding Region Coverage

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

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 25,296,517 (GRCm39)	S310L	probably damaging	Het
Adamts16	C	T	13: 70,946,157 (GRCm39)		probably null	Het
Arrb1	C	A	7: 99,240,569 (GRCm39)	D194E	probably benign	Het
Atp1a3	T	C	7: 24,697,051 (GRCm39)	D217G	probably damaging	Het
Bcar3	A	G	3: 122,302,033 (GRCm39)	I123V	possibly damaging	Het
Bdp1	G	A	13: 100,180,321 (GRCm39)	L1833F	probably damaging	Het
Cdc14a	T	C	3: 116,122,355 (GRCm39)	Y155C	probably damaging	Het
Cdo1	C	A	18: 46,853,380 (GRCm39)	R126M	possibly damaging	Het
Cfap99	G	T	5: 34,484,604 (GRCm39)	R627L	probably damaging	Het
Efr3a	T	A	15: 65,720,030 (GRCm39)	L369*	probably null	Het
Erich6	A	C	3: 58,543,516 (GRCm39)	F185V	probably damaging	Het
Fam186a	T	C	15: 99,853,374 (GRCm39)	D122G	unknown	Het
Fank1	A	G	7: 133,478,627 (GRCm39)	I230M	possibly damaging	Het
Flg2	A	T	3: 93,109,977 (GRCm39)	E668D	unknown	Het
Flg2	A	C	3: 93,110,256 (GRCm39)	R761S	unknown	Het
Gabrr1	T	C	4: 33,158,157 (GRCm39)	L260P	probably damaging	Het
Gfm2	G	A	13: 97,285,868 (GRCm39)	R119K	probably damaging	Het
Gm14226	A	G	2: 154,866,357 (GRCm39)	T105A	probably benign	Het
Gm14496	A	G	2: 181,637,997 (GRCm39)	N357S	probably damaging	Het
Gm5916	G	A	9: 36,039,935 (GRCm39)	L18F	probably benign	Het
Golm1	A	T	13: 59,790,058 (GRCm39)	N247K	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Greb1	C	T	12: 16,773,355 (GRCm39)	A240T	probably benign	Het
Gtf3c6	T	C	10: 40,125,774 (GRCm39)	M148V	probably benign	Het
Guca1a	T	C	17: 47,706,102 (GRCm39)	S126G	probably benign	Het
Hacl1	A	T	14: 31,337,380 (GRCm39)	I393N	possibly damaging	Het
Hddc3	A	G	7: 79,993,498 (GRCm39)	D68G	possibly damaging	Het
Hsfy2	T	C	1: 56,675,569 (GRCm39)	T323A	possibly damaging	Het
Kcng2	T	C	18: 80,366,358 (GRCm39)		probably benign	Het
Kdm2a	G	T	19: 4,395,669 (GRCm39)	P321T	probably benign	Het
Krt31	A	G	11: 99,938,558 (GRCm39)	V345A	probably benign	Het
Lrrc37	A	T	11: 103,509,583 (GRCm39)	L795*	probably null	Het
Mettl1	T	C	10: 126,880,887 (GRCm39)	S193P	probably benign	Het
Mme	G	A	3: 63,253,523 (GRCm39)	D456N	possibly damaging	Het
Mmrn1	A	G	6: 60,954,367 (GRCm39)	T883A	probably benign	Het
Mphosph10	C	G	7: 64,038,669 (GRCm39)	E293Q	probably benign	Het
Muc16	C	A	9: 18,557,193 (GRCm39)	K3033N	unknown	Het
Myo16	C	T	8: 10,619,496 (GRCm39)	T1349M	probably damaging	Het
Myo5c	T	C	9: 75,157,746 (GRCm39)	I233T	probably benign	Het
Or4p4b-ps1	A	G	2: 88,454,189 (GRCm39)	T181A	unknown	Het
Or52a33	T	G	7: 103,289,065 (GRCm39)	N94T	probably benign	Het
Or52ac1	A	T	7: 104,246,018 (GRCm39)	F123L	probably benign	Het
Or5b111	A	T	19: 13,291,036 (GRCm39)	S204R	probably benign	Het
Or5h22	A	G	16: 58,894,555 (GRCm39)	M296T	probably benign	Het
Or6c2	T	A	10: 129,362,732 (GRCm39)	V212E	probably damaging	Het
Or7c70	C	A	10: 78,683,351 (GRCm39)	V133L	probably benign	Het
Oxct2b	A	G	4: 123,011,480 (GRCm39)	I467V	probably benign	Het
Parp1	A	T	1: 180,414,936 (GRCm39)	N425Y	possibly damaging	Het
Pcdhgc3	T	A	18: 37,939,656 (GRCm39)	V19D	possibly damaging	Het
Pfkl	T	A	10: 77,833,423 (GRCm39)	I260F	probably damaging	Het
Pkd1l1	C	T	11: 8,799,046 (GRCm39)	G1789R	probably damaging	Het
Pla1a	G	A	16: 38,217,830 (GRCm39)	A386V	probably benign	Het
Pml	A	G	9: 58,142,169 (GRCm39)	L221P	probably damaging	Het
Rcn2	C	T	9: 55,964,845 (GRCm39)	Q268*	probably null	Het
Reps1	T	A	10: 17,969,603 (GRCm39)	D235E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sap30bp	A	G	11: 115,824,314 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,118,075 (GRCm39)	S1433T	probably damaging	Het
Sde2	T	C	1: 180,678,754 (GRCm39)	V6A	probably benign	Het
Sdk1	C	A	5: 142,197,769 (GRCm39)	R2141S	probably benign	Het
Setd2	T	C	9: 110,379,640 (GRCm39)	S1152P	probably damaging	Het
Slc26a2	C	T	18: 61,334,926 (GRCm39)	V176I	probably damaging	Het
Snx7	A	G	3: 117,640,281 (GRCm39)	I76T	possibly damaging	Het
Specc1l	C	A	10: 75,082,113 (GRCm39)	A520D	probably benign	Het
Spop	A	G	11: 95,362,136 (GRCm39)	T56A	possibly damaging	Het
Syne2	T	A	12: 76,074,786 (GRCm39)	D4576E	probably damaging	Het
Tas2r134	A	C	2: 51,517,601 (GRCm39)	M27L	probably benign	Het
Tecta	A	C	9: 42,278,082 (GRCm39)	I1142S	probably benign	Het
Timm44	T	C	8: 4,316,611 (GRCm39)	D311G	possibly damaging	Het
Tmem123	C	G	9: 7,791,071 (GRCm39)	T124R	possibly damaging	Het
Tmem184b	A	T	15: 79,246,959 (GRCm39)	L370Q	probably benign	Het
Trim25	T	A	11: 88,890,329 (GRCm39)	N5K	probably benign	Het
Vmn2r93	A	G	17: 18,524,903 (GRCm39)	Y187C	probably damaging	Het
Vpreb1a	A	G	16: 16,686,678 (GRCm39)	Y71H	probably damaging	Het
Vpreb1b	T	C	16: 17,798,441 (GRCm39)	S5P	probably benign	Het
Xpo7	A	T	14: 70,906,888 (GRCm39)	C939S	probably benign	Het
Zfp78	C	A	7: 6,381,764 (GRCm39)	S271R	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
R6978:Zic5	UTSW	14	122,696,960 (GRCm39)	missense	unknown
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'- ATAGTGCGCGTCCCCTGAG -3'
(R):5'- TATGACAGGCTTCCCGGTG -3'

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

Posted On

2019-05-13