Mutagenetix > Incidental Mutation

Incidental Mutation 'R4154:Zc3h15'

315028

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

040998-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.592) question?

Stock #

R4154 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83474922-83494961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83488913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 161 (V161A)

Ref Sequence

ENSEMBL: ENSMUSP00000080301 (fasta)

Gene Model

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

AlphaFold

Q3TIV5

Predicted Effect

probably benign
Transcript: ENSMUST00000081591
AA Change: V161A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080301
Gene: ENSMUSG00000027091
AA Change: V161A

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: ENSMUST00000145099

Meta Mutation Damage Score

0.0875

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI593442	A	T	9: 52,589,204 (GRCm39)	H124Q	probably benign	Het
Asph	C	T	4: 9,639,250 (GRCm39)	W38*	probably null	Het
Bicdl2	A	G	17: 23,885,066 (GRCm39)		probably null	Het
Chd8	T	C	14: 52,444,668 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,297,833 (GRCm39)	N67D	probably benign	Het
Cptp	A	G	4: 155,951,657 (GRCm39)	V12A	possibly damaging	Het
Crim1	A	G	17: 78,545,272 (GRCm39)	I145V	probably benign	Het
Ctsc	G	A	7: 87,948,755 (GRCm39)	M195I	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Fas	T	G	19: 34,296,228 (GRCm39)	I180S	possibly damaging	Het
Fsip2	A	C	2: 82,817,413 (GRCm39)	E4382A	possibly damaging	Het
Galnt5	T	G	2: 57,888,505 (GRCm39)	L35R	probably damaging	Het
Gfpt2	G	A	11: 49,726,605 (GRCm39)		probably null	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
Gm14496	A	T	2: 181,636,872 (GRCm39)	H110L	probably benign	Het
Golm1	A	G	13: 59,790,167 (GRCm39)	V211A	probably benign	Het
Gsc2	TGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAG	16: 17,732,666 (GRCm39)		probably benign	Het
Ighv1-72	A	T	12: 115,722,017 (GRCm39)	M7K	probably benign	Het
Igkv12-44	C	T	6: 69,791,639 (GRCm39)	C108Y	possibly damaging	Het
Lum	T	C	10: 97,404,815 (GRCm39)	S237P	probably damaging	Het
Macf1	T	C	4: 123,365,606 (GRCm39)	K3052E	probably damaging	Het
Mdn1	A	G	4: 32,707,475 (GRCm39)	E1588G	probably damaging	Het
Ndst3	T	C	3: 123,465,876 (GRCm39)	Y32C	probably damaging	Het
Nucb2	A	G	7: 116,126,902 (GRCm39)	T172A	probably benign	Het
Or52b1	T	C	7: 104,978,592 (GRCm39)	N269S	probably damaging	Het
Pard3	G	T	8: 128,200,877 (GRCm39)	R978L	probably damaging	Het
Pcdha4	A	G	18: 37,086,639 (GRCm39)		probably null	Het
Pgk2	A	G	17: 40,519,149 (GRCm39)	V93A	probably damaging	Het
Pik3c3	G	A	18: 30,444,336 (GRCm39)	M516I	probably benign	Het
Plxnb2	A	G	15: 89,043,845 (GRCm39)	F1336L	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	C	12: 82,471,988 (GRCm39)	G1323R	possibly damaging	Het
Sntg1	A	T	1: 8,653,569 (GRCm39)		probably null	Het
Spef2	T	C	15: 9,626,107 (GRCm39)	K1153R	probably benign	Het
Strn3	C	T	12: 51,673,914 (GRCm39)	V566M	probably damaging	Het
Svep1	A	G	4: 58,069,068 (GRCm39)	F2906S	possibly damaging	Het
Tbc1d8	C	T	1: 39,425,216 (GRCm39)	V545M	probably damaging	Het
Tmem131	T	C	1: 36,847,874 (GRCm39)		probably benign	Het
Tnfsf8	A	G	4: 63,752,595 (GRCm39)	S157P	probably benign	Het
Tubgcp5	G	A	7: 55,455,077 (GRCm39)	V258M	probably benign	Het
Vat1l	G	C	8: 114,932,543 (GRCm39)	G30R	possibly damaging	Het
Vegfb	T	C	19: 6,963,446 (GRCm39)	Y106C	probably damaging	Het
Vmn2r100	AAAACAGGAGTATTGATTGGAAAC	AAAAC	17: 19,743,681 (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
R4420:Zc3h15	UTSW	2	83,488,356 (GRCm39)	missense	probably damaging	0.97
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'- CCCTGGGAGCTTGGATTGATAG -3'
(R):5'- CTAAATAAAGCAGGGCGTATTGTAGC -3'

Sequencing Primer
(F):5'- GTTCAGAGGCCTATGTTG -3'
(R):5'- AGCAGGGCGTATTGTAGCTTATATTG -3'

Posted On

2015-05-14