Mutagenetix > Incidental Mutation

Incidental Mutation 'R4420:Zc3h15'

327032

Institutional Source

Beutler Lab

Gene Symbol

Zc3h15

Ensembl Gene

ENSMUSG00000027091

Gene Name

zinc finger CCCH-type containing 15

Synonyms

1810012H02Rik, FM22, 1700006A17Rik, 2610312B22Rik, Ierepo4

MMRRC Submission

041141-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.592) question?

Stock #

R4420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83474922-83494961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83488356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 98 (A98E)

Ref Sequence

ENSEMBL: ENSMUSP00000080301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081591]

AlphaFold

Q3TIV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000081591
AA Change: A98E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080301
Gene: ENSMUSG00000027091
AA Change: A98E

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
coiled coil region	60	86	N/A	INTRINSIC
ZnF_C3H1	99	125	7.84e-8	SMART
ZnF_C3H1	175	211	3.81e0	SMART
Pfam:DFRP_C	229	336	4.2e-23	PFAM
low complexity region	410	426	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145099

Meta Mutation Damage Score

0.1033

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef17	G	A	7: 100,531,515 (GRCm39)		probably benign	Het
Atp1b1	T	C	1: 164,281,127 (GRCm39)	T53A	probably damaging	Het
Carmil3	A	G	14: 55,731,045 (GRCm39)	Q104R	probably damaging	Het
Casz1	T	G	4: 149,033,375 (GRCm39)	N1382K	possibly damaging	Het
Chfr	T	A	5: 110,318,746 (GRCm39)	C585*	probably null	Het
Chp2	T	C	7: 121,821,161 (GRCm39)	F174S	probably damaging	Het
Dclre1c	A	T	2: 3,434,782 (GRCm39)		probably null	Het
Dnah6	A	G	6: 73,168,462 (GRCm39)	V487A	probably benign	Het
Dnah9	T	C	11: 66,009,575 (GRCm39)	R771G	probably benign	Het
Duox1	G	A	2: 122,157,607 (GRCm39)	A578T	probably benign	Het
Elp3	G	A	14: 65,818,240 (GRCm39)	A140V	probably damaging	Het
Fbrsl1	T	C	5: 110,526,852 (GRCm39)	H387R	possibly damaging	Het
Gnat3	T	C	5: 18,204,799 (GRCm39)	S151P	probably damaging	Het
Gucy1a2	T	A	9: 3,634,640 (GRCm39)	L228H	probably damaging	Het
Gzmn	A	T	14: 56,403,463 (GRCm39)	H215Q	probably benign	Het
Heg1	A	T	16: 33,547,805 (GRCm39)	E864V	probably benign	Het
Hoxb9	T	C	11: 96,162,807 (GRCm39)	V147A	probably benign	Het
Hsf5	T	G	11: 87,548,130 (GRCm39)	H604Q	probably benign	Het
Hus1	T	C	11: 8,950,133 (GRCm39)	E196G	probably damaging	Het
Il12rb2	G	T	6: 67,293,394 (GRCm39)		probably null	Het
Irs1	T	C	1: 82,266,171 (GRCm39)	S682G	possibly damaging	Het
Jcad	T	C	18: 4,676,032 (GRCm39)	S1265P	probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Matk	A	G	10: 81,098,291 (GRCm39)	S361G	possibly damaging	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Nceh1	A	G	3: 27,295,798 (GRCm39)	D353G	probably damaging	Het
Nqo1	C	T	8: 108,118,749 (GRCm39)		probably null	Het
Or5t7	A	G	2: 86,507,263 (GRCm39)	V138A	possibly damaging	Het
Pcdh7	T	C	5: 58,286,512 (GRCm39)	I1196T	probably benign	Het
Pla2g4d	A	G	2: 120,114,644 (GRCm39)	V29A	probably benign	Het
Ppfibp1	T	A	6: 146,927,736 (GRCm39)	Y794*	probably null	Het
Prdx5	C	A	19: 6,885,332 (GRCm39)		probably null	Het
Psme4	C	T	11: 30,762,028 (GRCm39)	T456I	possibly damaging	Het
Ptprd	A	T	4: 75,957,614 (GRCm39)	S923R	possibly damaging	Het
Samd12	G	A	15: 53,723,655 (GRCm39)	R13W	probably damaging	Het
Slc35f4	A	T	14: 49,551,034 (GRCm39)		probably benign	Het
Smc1b	A	G	15: 84,997,031 (GRCm39)	Y530H	probably damaging	Het
Spata2l	T	C	8: 123,960,768 (GRCm39)	T174A	possibly damaging	Het
Sugct	C	T	13: 17,627,130 (GRCm39)	C241Y	probably damaging	Het
Tarbp1	G	T	8: 127,173,819 (GRCm39)	A965D	possibly damaging	Het
Tas1r3	A	G	4: 155,946,789 (GRCm39)	V272A	probably damaging	Het
Tas2r117	T	A	6: 132,780,312 (GRCm39)	L150*	probably null	Het
Trip10	C	T	17: 57,562,448 (GRCm39)	P322L	probably benign	Het
Wdfy3	A	C	5: 102,058,850 (GRCm39)	H1487Q	probably damaging	Het
Wdr95	G	A	5: 149,456,131 (GRCm39)	V8M	probably damaging	Het
Zfp763	T	G	17: 33,237,455 (GRCm39)	K563N	probably benign	Het
Zmym2	G	A	14: 57,194,335 (GRCm39)	D1198N	probably damaging	Het
Zp1	C	T	19: 10,892,124 (GRCm39)		probably null	Het

Other mutations in Zc3h15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01619:Zc3h15	APN	2	83,490,517 (GRCm39)	missense	probably damaging	1.00
IGL01688:Zc3h15	APN	2	83,492,536 (GRCm39)	missense	probably damaging	0.99
IGL01951:Zc3h15	APN	2	83,491,829 (GRCm39)	missense	probably damaging	1.00
IGL02514:Zc3h15	APN	2	83,483,725 (GRCm39)	missense	probably damaging	1.00
IGL02852:Zc3h15	APN	2	83,475,015 (GRCm39)	missense	possibly damaging	0.85
IGL03075:Zc3h15	APN	2	83,492,535 (GRCm39)	missense	possibly damaging	0.95
IGL03055:Zc3h15	UTSW	2	83,491,515 (GRCm39)	missense	possibly damaging	0.90
R0117:Zc3h15	UTSW	2	83,488,427 (GRCm39)	missense	possibly damaging	0.51
R0465:Zc3h15	UTSW	2	83,494,159 (GRCm39)	splice site	probably benign
R1711:Zc3h15	UTSW	2	83,491,492 (GRCm39)	missense	probably benign	0.03
R1861:Zc3h15	UTSW	2	83,494,334 (GRCm39)	missense	unknown
R2258:Zc3h15	UTSW	2	83,487,360 (GRCm39)	missense	probably benign	0.00
R2325:Zc3h15	UTSW	2	83,483,783 (GRCm39)	missense	probably damaging	1.00
R4152:Zc3h15	UTSW	2	83,488,913 (GRCm39)	missense	probably benign	0.06
R4154:Zc3h15	UTSW	2	83,488,913 (GRCm39)	missense	probably benign	0.06
R5384:Zc3h15	UTSW	2	83,490,574 (GRCm39)	missense	possibly damaging	0.55
R6341:Zc3h15	UTSW	2	83,491,567 (GRCm39)	missense	probably benign	0.11
R6544:Zc3h15	UTSW	2	83,491,492 (GRCm39)	missense	probably benign	0.03
R6923:Zc3h15	UTSW	2	83,487,400 (GRCm39)	missense	possibly damaging	0.68
R7770:Zc3h15	UTSW	2	83,488,476 (GRCm39)	missense	possibly damaging	0.49
R8782:Zc3h15	UTSW	2	83,491,787 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AAGCTGTAAAGAACTCTCTAGCC -3'
(R):5'- CTGAATCACTGTATTCTAAGCACC -3'

Sequencing Primer
(F):5'- TGTAAAGAACTCTCTAGCCAAATACC -3'
(R):5'- CACATTTTCTCTCCAAAGTG -3'

Posted On

2015-07-07