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

TFL, D730019B10Rik

MMRRC Submission

045701-MU

Accession Numbers

Essential gene?

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

Stock #

R7645 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

7708234-7746160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7743340 bp (GRCm39)

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: 111,392,789 (GRCm39)	C375S	probably benign	Het
Adgrg3	A	G	8: 95,761,392 (GRCm39)		probably benign	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Atg2b	T	C	12: 105,589,689 (GRCm39)	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,237,387 (GRCm39)	N290K	probably benign	Het
Ccdc39	T	C	3: 33,879,318 (GRCm39)		probably null	Het
Cnot10	T	C	9: 114,442,705 (GRCm39)	S501G	probably benign	Het
Col6a6	A	G	9: 105,644,397 (GRCm39)		probably null	Het
Coq2	A	C	5: 100,808,116 (GRCm39)	C228W	probably damaging	Het
Cpt2	A	T	4: 107,764,171 (GRCm39)	M531K	possibly damaging	Het
Dennd1a	A	G	2: 37,911,375 (GRCm39)	L204P	probably damaging	Het
Dock9	C	T	14: 121,835,075 (GRCm39)	V1305M	probably benign	Het
Dusp16	A	G	6: 134,702,888 (GRCm39)	I201T	probably damaging	Het
Esco2	T	C	14: 66,064,630 (GRCm39)	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037 (GRCm39)	S158P	probably damaging	Het
Fut10	A	G	8: 31,726,232 (GRCm39)	H329R	possibly damaging	Het
Gpr3	A	G	4: 132,938,640 (GRCm39)	W11R	probably damaging	Het
H2-M3	T	A	17: 37,581,620 (GRCm39)	I94N	probably damaging	Het
Krt7	T	C	15: 101,310,524 (GRCm39)	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,129,373 (GRCm39)		probably benign	Het
Ms4a6b	A	T	19: 11,501,304 (GRCm39)	T105S	probably damaging	Het
Muc6	T	C	7: 141,234,923 (GRCm39)	H592R	probably benign	Het
Ncam1	T	C	9: 49,476,303 (GRCm39)	E262G	probably benign	Het
Or4x11	T	A	2: 89,868,091 (GRCm39)	I276K	possibly damaging	Het
Or5b108	T	C	19: 13,168,937 (GRCm39)	V302A	probably benign	Het
Plxnb1	T	A	9: 108,943,480 (GRCm39)	S1908T	probably damaging	Het
Polg2	A	T	11: 106,666,419 (GRCm39)	M242K	probably benign	Het
Polr3g	T	C	13: 81,842,563 (GRCm39)	T151A	unknown	Het
Pramel51	T	C	12: 88,143,028 (GRCm39)	T392A	probably damaging	Het
Psmb8	T	C	17: 34,419,186 (GRCm39)	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,517,260 (GRCm39)	A176V	possibly damaging	Het
Rreb1	T	C	13: 38,115,010 (GRCm39)	C790R	probably damaging	Het
Rufy3	A	G	5: 88,788,476 (GRCm39)	T506A	probably benign	Het
Samd11	T	C	4: 156,340,243 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,029,450 (GRCm39)	F279L	possibly damaging	Het
Slc49a4	T	A	16: 35,554,438 (GRCm39)		probably null	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,183 (GRCm39)		probably benign	Het
Srgn	C	T	10: 62,330,757 (GRCm39)	W116*	probably null	Het
Svil	A	G	18: 5,099,663 (GRCm39)	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,119,742 (GRCm39)	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,969,182 (GRCm39)	K490M	probably damaging	Het
Tcte1	A	G	17: 45,845,915 (GRCm39)	N173S	probably benign	Het
Tmco6	C	T	18: 36,868,446 (GRCm39)	R31W	probably damaging	Het
Ttn	C	A	2: 76,730,025 (GRCm39)	A5155S	unknown	Het
Tyro3	T	C	2: 119,647,387 (GRCm39)	Y839H	probably damaging	Het
Zc3h7b	T	C	15: 81,664,803 (GRCm39)	L554P	probably damaging	Het
Zfp352	C	T	4: 90,113,014 (GRCm39)	P385S	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
IGL02876:Zc3h12d	APN	10	7,738,364 (GRCm39)	missense	probably damaging	0.99
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
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

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