Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00095:Zc3h12d'

1263

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zc3h12d

Ensembl Gene

ENSMUSG00000039981

Gene Name

zinc finger CCCH type containing 12D

Synonyms

D730019B10Rik, TFL

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

7832470-7870396 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7862467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 179 (V179A)

Ref Sequence

ENSEMBL: ENSMUSP00000040217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039484]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039484
AA Change: V179A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040217
Gene: ENSMUSG00000039981
AA Change: V179A

Domain	Start	End	E-Value	Type
Pfam:RNase_Zc3h12a	91	247	4e-67	PFAM
low complexity region	333	345	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit disrupted regulation of excessive inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,882,751	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,698,058	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,664,064	V776A	probably benign	Het
Crxos	T	A	7: 15,898,618	C116*	probably null	Het
Csmd1	A	G	8: 16,009,297		probably benign	Het
Cubn	C	A	2: 13,491,820		probably benign	Het
Exoc2	A	G	13: 30,820,626	I858T	probably benign	Het
Fam105a	A	G	15: 27,658,116	S273P	possibly damaging	Het
Frmpd1	C	A	4: 45,279,456	T727K	possibly damaging	Het
Gm3139	T	C	5: 94,537,804	L441P	probably damaging	Het
Hapln3	T	C	7: 79,121,983	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,726,154	Q584L	possibly damaging	Het
Ikbkb	A	T	8: 22,706,111	F26I	probably damaging	Het
Il31ra	A	T	13: 112,547,478	I120N	possibly damaging	Het
Itih1	C	T	14: 30,929,821	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,851,206	S123P	possibly damaging	Het
Large1	C	T	8: 72,837,497	R547Q	probably damaging	Het
Madd	A	G	2: 91,175,766		probably benign	Het
Mark1	A	G	1: 184,898,603	V770A	probably damaging	Het
Mpeg1	T	C	19: 12,462,710	F511L	probably benign	Het
Mrgpra9	A	G	7: 47,235,091	V276A	possibly damaging	Het
Nav3	T	C	10: 109,841,733	T666A	probably damaging	Het
Ndufa8	T	C	2: 36,044,455	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,253,279	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,708,341	E148G	probably benign	Het
Olfr310	T	C	7: 86,269,669	N40S	probably damaging	Het
Olfr509	A	T	7: 108,645,836	F247I	possibly damaging	Het
Patj	A	C	4: 98,535,562	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,629,035	T619A	probably benign	Het
Pla2g6	T	C	15: 79,289,241	T643A	probably damaging	Het
Radil	A	G	5: 142,497,922	S510P	probably damaging	Het
Spock1	A	G	13: 57,587,739		probably benign	Het
Stag3	C	T	5: 138,299,138	T577M	probably damaging	Het
Tap2	C	T	17: 34,215,378	R613C	probably benign	Het
Tnn	A	G	1: 160,125,451	V673A	possibly damaging	Het
Trrap	T	C	5: 144,779,974		probably benign	Het
Vmn2r28	T	C	7: 5,488,069	D393G	probably benign	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het

Other mutations in Zc3h12d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Zc3h12d	APN	10	7839956	missense	probably damaging	1.00
IGL02090:Zc3h12d	APN	10	7867332	missense	probably benign	0.00
IGL02876:Zc3h12d	APN	10	7862600	missense	probably damaging	0.99
R0040:Zc3h12d	UTSW	10	7867914	missense	probably benign	0.02
R0040:Zc3h12d	UTSW	10	7867914	missense	probably benign	0.02
R0242:Zc3h12d	UTSW	10	7862566	missense	probably damaging	1.00
R0242:Zc3h12d	UTSW	10	7862566	missense	probably damaging	1.00
R1942:Zc3h12d	UTSW	10	7853313	missense	probably damaging	1.00
R2290:Zc3h12d	UTSW	10	7867459	missense	probably benign	0.00
R2354:Zc3h12d	UTSW	10	7867938	missense	probably benign	0.00
R4816:Zc3h12d	UTSW	10	7867947	missense	probably damaging	1.00
R4932:Zc3h12d	UTSW	10	7853250	missense	probably damaging	0.99
R5191:Zc3h12d	UTSW	10	7867818	missense	possibly damaging	0.51
R5384:Zc3h12d	UTSW	10	7853250	missense	probably damaging	1.00
R5396:Zc3h12d	UTSW	10	7866326	missense	probably damaging	1.00
R6409:Zc3h12d	UTSW	10	7867318	missense	probably benign	0.04
R6877:Zc3h12d	UTSW	10	7839971	missense	probably damaging	0.99
R6903:Zc3h12d	UTSW	10	7867661	missense	probably benign
R6967:Zc3h12d	UTSW	10	7839880	missense	probably damaging	1.00
R7312:Zc3h12d	UTSW	10	7867581	missense	probably benign	0.00
R7594:Zc3h12d	UTSW	10	7862618	missense	probably damaging	1.00
R7622:Zc3h12d	UTSW	10	7867269	missense	probably damaging	1.00
R7645:Zc3h12d	UTSW	10	7867576	missense	probably benign
R7769:Zc3h12d	UTSW	10	7867626	missense	probably benign	0.03
R7864:Zc3h12d	UTSW	10	7839959	missense	possibly damaging	0.83
R8371:Zc3h12d	UTSW	10	7839971	frame shift	probably null
R8414:Zc3h12d	UTSW	10	7839971	frame shift	probably null
R9255:Zc3h12d	UTSW	10	7853258	missense	probably damaging	1.00
Z1177:Zc3h12d	UTSW	10	7867808	missense	probably damaging	1.00

Posted On

2011-07-12