Mutagenetix > Incidental Mutation

Incidental Mutation 'R7645:Zc3h12d'

590487

Institutional Source

Beutler Lab

Gene Symbol

Zc3h12d

Ensembl Gene

ENSMUSG00000039981

Gene Name

zinc finger CCCH type containing 12D

Synonyms

D730019B10Rik, TFL

MMRRC Submission

045701-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R7645 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

7832470-7870396 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7867576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 370 (D370G)

Ref Sequence

ENSEMBL: ENSMUSP00000040217 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039484
AA Change: D370G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040217
Gene: ENSMUSG00000039981
AA Change: D370G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764		probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169		probably null	Het
Cnot10	T	C	9: 114,613,637	S501G	probably benign	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Coq2	A	C	5: 100,660,250	C228W	probably damaging	Het
Cpt2	A	T	4: 107,906,974	M531K	possibly damaging	Het
Dennd1a	A	G	2: 38,021,363	L204P	probably damaging	Het
Dirc2	T	A	16: 35,734,068		probably null	Het
Dock9	C	T	14: 121,597,663	V1305M	probably benign	Het
Dusp16	A	G	6: 134,725,925	I201T	probably damaging	Het
Esco2	T	C	14: 65,827,181	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037	S158P	probably damaging	Het
Fut10	A	G	8: 31,236,204	H329R	possibly damaging	Het
Gm10436	T	C	12: 88,176,258	T392A	probably damaging	Het
Gpr3	A	G	4: 133,211,329	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546		probably benign	Het
Ms4a6b	A	T	19: 11,523,940	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658	H592R	probably benign	Het
Ncam1	T	C	9: 49,565,003	E262G	probably benign	Het
Olfr1265	T	A	2: 90,037,747	I276K	possibly damaging	Het
Olfr1462	T	C	19: 13,191,573	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444	T151A	unknown	Het
Psmb8	T	C	17: 34,200,212	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391	A176V	possibly damaging	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rufy3	A	G	5: 88,640,617	T506A	probably benign	Het
Samd11	T	C	4: 156,255,183		probably benign	Het
Slc12a2	T	C	18: 57,896,378	F279L	possibly damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295		probably benign	Het
Srgn	C	T	10: 62,494,978	W116*	probably null	Het
Svil	A	G	18: 5,099,663	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,242,553	K490M	probably damaging	Het
Tcte1	A	G	17: 45,534,989	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906	Y839H	probably damaging	Het
Zc3h7b	T	C	15: 81,780,602	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777	P385S	probably benign	Het

Other mutations in Zc3h12d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Zc3h12d	APN	10	7862467	missense	probably damaging	1.00
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
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
R9470:Zc3h12d	UTSW	10	7867557	missense	possibly damaging	0.73
Z1177:Zc3h12d	UTSW	10	7867808	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTGCAGATTCTACCACCC -3'
(R):5'- ACTGTGCATGTCCCTGGAAC -3'

Sequencing Primer
(F):5'- TGTCTGTGGCCGACGAACTC -3'
(R):5'- ATGTCCCTGGAACGGTGTCTC -3'

Posted On

2019-10-24