Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02876:Zc3h12d'

406244

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zc3h12d

Ensembl Gene

ENSMUSG00000039981

Gene Name

zinc finger CCCH type containing 12D

Synonyms

TFL, D730019B10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02876

Quality Score

Status

Chromosome

Chromosomal Location

7708234-7746160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 7738364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 223 (M223I)

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: M223I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040217
Gene: ENSMUSG00000039981
AA Change: M223I

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	A	G	4: 144,282,343 (GRCm39)	Y150H	probably damaging	Het
Abcb5	A	G	12: 118,883,576 (GRCm39)	V564A	probably damaging	Het
Adamts15	A	T	9: 30,815,818 (GRCm39)	N679K	probably damaging	Het
Angpt1	T	G	15: 42,290,373 (GRCm39)	D497A	possibly damaging	Het
Asap2	A	G	12: 21,308,164 (GRCm39)	K849R	probably benign	Het
Aspm	T	C	1: 139,401,391 (GRCm39)	V1137A	probably damaging	Het
Atp12a	A	G	14: 56,610,746 (GRCm39)	I297V	probably benign	Het
Atp2a2	A	G	5: 122,604,071 (GRCm39)	V454A	probably benign	Het
Carmil1	T	A	13: 24,338,651 (GRCm39)		probably benign	Het
Csmd2	A	T	4: 128,215,128 (GRCm39)	K517*	probably null	Het
Csmd3	A	T	15: 47,469,492 (GRCm39)		probably benign	Het
Cyp2d11	T	A	15: 82,273,697 (GRCm39)	Q427L	possibly damaging	Het
Eml5	C	T	12: 98,825,100 (GRCm39)	V706M	probably damaging	Het
Entpd8	A	C	2: 24,975,072 (GRCm39)	S428R	probably benign	Het
Gm10283	T	C	8: 60,954,253 (GRCm39)		probably benign	Het
Gpatch3	T	A	4: 133,307,995 (GRCm39)	V363E	probably damaging	Het
Hoxb5	T	A	11: 96,194,594 (GRCm39)	M52K	probably damaging	Het
Ift52	T	C	2: 162,878,627 (GRCm39)	V307A	probably benign	Het
Igkv1-115	T	C	6: 68,138,424 (GRCm39)		noncoding transcript	Het
Kdm5a	T	C	6: 120,367,605 (GRCm39)		probably benign	Het
Lama1	T	A	17: 68,057,687 (GRCm39)		probably null	Het
Lrp6	G	A	6: 134,433,077 (GRCm39)	P1418L	probably benign	Het
Mill2	T	C	7: 18,590,432 (GRCm39)	F156L	probably damaging	Het
Mnat1	A	G	12: 73,217,378 (GRCm39)	R85G	probably damaging	Het
Myrip	A	T	9: 120,261,740 (GRCm39)	D451V	probably damaging	Het
Or1e1f	A	T	11: 73,855,539 (GRCm39)	Y35F	possibly damaging	Het
Pdzph1	C	A	17: 59,281,064 (GRCm39)	S406I	probably benign	Het
Ptprb	A	G	10: 116,184,116 (GRCm39)		probably benign	Het
Rxfp4	T	A	3: 88,559,742 (GRCm39)	R236S	possibly damaging	Het
Ryr2	T	C	13: 11,722,679 (GRCm39)	M2604V	probably benign	Het
Setd1a	G	A	7: 127,377,673 (GRCm39)		probably benign	Het
Spata33	A	T	8: 123,948,719 (GRCm39)	H88L	probably damaging	Het
Spcs3	A	T	8: 54,979,486 (GRCm39)	N98K	probably damaging	Het
Srgap3	A	G	6: 112,748,414 (GRCm39)	S413P	probably damaging	Het
Stap2	T	C	17: 56,306,961 (GRCm39)	R239G	probably benign	Het
Surf6	A	G	2: 26,782,638 (GRCm39)	Y230H	probably damaging	Het
Tasp1	C	T	2: 139,676,283 (GRCm39)	V382M	probably benign	Het
Tnc	G	T	4: 63,933,338 (GRCm39)	A642E	possibly damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vmn2r110	T	A	17: 20,794,558 (GRCm39)	T704S	probably damaging	Het
Vtcn1	A	T	3: 100,791,145 (GRCm39)	D61V	probably damaging	Het
Zfp592	T	A	7: 80,687,875 (GRCm39)	S934T	probably benign	Het

Other mutations in Zc3h12d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Zc3h12d	APN	10	7,738,231 (GRCm39)	missense	probably damaging	1.00
IGL01013:Zc3h12d	APN	10	7,715,720 (GRCm39)	missense	probably damaging	1.00
IGL02090:Zc3h12d	APN	10	7,743,096 (GRCm39)	missense	probably benign	0.00
R0040:Zc3h12d	UTSW	10	7,743,678 (GRCm39)	missense	probably benign	0.02
R0040:Zc3h12d	UTSW	10	7,743,678 (GRCm39)	missense	probably benign	0.02
R0242:Zc3h12d	UTSW	10	7,738,330 (GRCm39)	missense	probably damaging	1.00
R0242:Zc3h12d	UTSW	10	7,738,330 (GRCm39)	missense	probably damaging	1.00
R1942:Zc3h12d	UTSW	10	7,729,077 (GRCm39)	missense	probably damaging	1.00
R2290:Zc3h12d	UTSW	10	7,743,223 (GRCm39)	missense	probably benign	0.00
R2354:Zc3h12d	UTSW	10	7,743,702 (GRCm39)	missense	probably benign	0.00
R4816:Zc3h12d	UTSW	10	7,743,711 (GRCm39)	missense	probably damaging	1.00
R4932:Zc3h12d	UTSW	10	7,729,014 (GRCm39)	missense	probably damaging	0.99
R5191:Zc3h12d	UTSW	10	7,743,582 (GRCm39)	missense	possibly damaging	0.51
R5384:Zc3h12d	UTSW	10	7,729,014 (GRCm39)	missense	probably damaging	1.00
R5396:Zc3h12d	UTSW	10	7,742,090 (GRCm39)	missense	probably damaging	1.00
R6409:Zc3h12d	UTSW	10	7,743,082 (GRCm39)	missense	probably benign	0.04
R6877:Zc3h12d	UTSW	10	7,715,735 (GRCm39)	missense	probably damaging	0.99
R6903:Zc3h12d	UTSW	10	7,743,425 (GRCm39)	missense	probably benign
R6967:Zc3h12d	UTSW	10	7,715,644 (GRCm39)	missense	probably damaging	1.00
R7312:Zc3h12d	UTSW	10	7,743,345 (GRCm39)	missense	probably benign	0.00
R7594:Zc3h12d	UTSW	10	7,738,382 (GRCm39)	missense	probably damaging	1.00
R7622:Zc3h12d	UTSW	10	7,743,033 (GRCm39)	missense	probably damaging	1.00
R7645:Zc3h12d	UTSW	10	7,743,340 (GRCm39)	missense	probably benign
R7769:Zc3h12d	UTSW	10	7,743,390 (GRCm39)	missense	probably benign	0.03
R7864:Zc3h12d	UTSW	10	7,715,723 (GRCm39)	missense	possibly damaging	0.83
R8371:Zc3h12d	UTSW	10	7,715,735 (GRCm39)	frame shift	probably null
R8414:Zc3h12d	UTSW	10	7,715,735 (GRCm39)	frame shift	probably null
R9255:Zc3h12d	UTSW	10	7,729,022 (GRCm39)	missense	probably damaging	1.00
R9470:Zc3h12d	UTSW	10	7,743,321 (GRCm39)	missense	possibly damaging	0.73
Z1177:Zc3h12d	UTSW	10	7,743,572 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02