Mutagenetix > Incidental Mutation

Incidental Mutation 'R0477:Zc3h3'

41876

Institutional Source

Beutler Lab

Gene Symbol

Zc3h3

Ensembl Gene

ENSMUSG00000075600

Gene Name

zinc finger CCCH type containing 3

Synonyms

Smicl

MMRRC Submission

038677-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R0477 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

75626279-75713764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75648932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 733 (S733R)

Ref Sequence

ENSEMBL: ENSMUSP00000098106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100538]

AlphaFold

Q8CHP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100538
AA Change: S733R

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098106
Gene: ENSMUSG00000075600
AA Change: S733R

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	370	388	N/A	INTRINSIC
low complexity region	543	558	N/A	INTRINSIC
ZnF_C3H1	663	689	1.03e-2	SMART
ZnF_C3H1	690	716	1.16e-1	SMART
ZnF_C3H1	718	743	5.38e-6	SMART
ZnF_C3H1	745	771	2.88e-6	SMART
ZnF_C3H1	772	794	1.64e-1	SMART
low complexity region	839	888	N/A	INTRINSIC
low complexity region	895	905	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229970

Meta Mutation Damage Score

0.0825

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

Validation Efficiency

98% (57/58)

Allele List at MGI

All alleles(7) : Targeted, other(2) Gene trapped(5)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	T	11: 117,693,787 (GRCm39)	I85F	probably benign	Het
Abca8a	T	A	11: 109,956,051 (GRCm39)	I778L	probably benign	Het
Abcc5	T	C	16: 20,187,319 (GRCm39)	N889S	possibly damaging	Het
Abcc5	T	C	16: 20,217,635 (GRCm39)	N359D	probably damaging	Het
Adam23	A	G	1: 63,596,559 (GRCm39)		probably benign	Het
Adamts3	A	T	5: 89,832,366 (GRCm39)	D913E	probably benign	Het
Ap1b1	G	T	11: 4,981,787 (GRCm39)	C538F	probably benign	Het
Ash1l	T	A	3: 88,890,766 (GRCm39)	S882T	probably benign	Het
C9	A	T	15: 6,487,664 (GRCm39)	E43D	probably benign	Het
Cacna2d1	T	C	5: 16,399,796 (GRCm39)		probably null	Het
Ces2a	A	G	8: 105,464,169 (GRCm39)	E267G	probably damaging	Het
Cfap61	A	G	2: 145,781,836 (GRCm39)	D23G	probably damaging	Het
Col9a3	T	G	2: 180,251,263 (GRCm39)		probably benign	Het
Cstl1	T	C	2: 148,592,908 (GRCm39)	V21A	probably benign	Het
Cth	A	T	3: 157,610,812 (GRCm39)	L340Q	probably damaging	Het
Dnah8	T	A	17: 30,974,054 (GRCm39)	M2813K	probably damaging	Het
Fam107a	A	T	14: 8,301,168 (GRCm38)	Y21N	probably benign	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Fer1l4	A	G	2: 155,894,806 (GRCm39)	V21A	probably benign	Het
Foxc2	A	T	8: 121,844,774 (GRCm39)	Y474F	probably damaging	Het
Hnf4g	G	T	3: 3,716,851 (GRCm39)		probably benign	Het
Hnrnpll	T	C	17: 80,369,261 (GRCm39)	D54G	unknown	Het
Hydin	A	G	8: 111,145,130 (GRCm39)	Y827C	probably damaging	Het
Il23r	A	G	6: 67,429,361 (GRCm39)	V327A	probably benign	Het
Itih4	T	A	14: 30,611,631 (GRCm39)	V118D	probably damaging	Het
Kmt2d	G	A	15: 98,751,462 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,376,268 (GRCm39)	D1546G	possibly damaging	Het
Large1	A	T	8: 73,544,710 (GRCm39)	D689E	probably damaging	Het
Map1a	T	C	2: 121,132,582 (GRCm39)	S895P	probably damaging	Het
Mdn1	A	C	4: 32,750,928 (GRCm39)	E4487A	probably benign	Het
Myo15a	T	C	11: 60,411,740 (GRCm39)		probably null	Het
Nlrp4f	C	A	13: 65,338,720 (GRCm39)	R639L	probably benign	Het
Or4f52	A	G	2: 111,062,009 (GRCm39)	F43S	probably benign	Het
Or8h10	T	A	2: 86,808,567 (GRCm39)	D191V	probably damaging	Het
Pcdh9	T	C	14: 94,125,114 (GRCm39)	N229S	probably damaging	Het
Pcnx2	A	G	8: 126,488,306 (GRCm39)	V1746A	probably damaging	Het
Phf12	A	T	11: 77,913,896 (GRCm39)	H446L	possibly damaging	Het
Phlpp2	A	G	8: 110,622,138 (GRCm39)		probably null	Het
Psmb9	A	C	17: 34,401,238 (GRCm39)	V207G	probably damaging	Het
Ptprh	C	A	7: 4,600,997 (GRCm39)	D127Y	possibly damaging	Het
Rabep1	T	G	11: 70,811,733 (GRCm39)	M535R	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scin	T	C	12: 40,110,515 (GRCm39)	D711G	probably damaging	Het
Slfn4	T	C	11: 83,079,507 (GRCm39)	I6T	probably benign	Het
Sos1	T	A	17: 80,742,363 (GRCm39)	E388V	possibly damaging	Het
Spag5	A	C	11: 78,205,024 (GRCm39)	Q603P	probably damaging	Het
Supv3l1	G	T	10: 62,266,364 (GRCm39)	T604N	probably damaging	Het
Tbx5	A	G	5: 120,021,184 (GRCm39)	S397G	possibly damaging	Het
Tmprss5	A	G	9: 49,026,465 (GRCm39)	D383G	possibly damaging	Het
Trim43b	A	G	9: 88,972,654 (GRCm39)	W167R	probably damaging	Het
Unc80	A	T	1: 66,609,160 (GRCm39)	D1283V	probably damaging	Het
Upf1	A	T	8: 70,786,730 (GRCm39)	V918D	probably benign	Het
Vmn2r100	A	G	17: 19,742,776 (GRCm39)	I383M	probably benign	Het
Zcchc2	C	T	1: 105,958,000 (GRCm39)	P426S	possibly damaging	Het
Zkscan7	A	G	9: 122,719,874 (GRCm39)		probably null	Het

Other mutations in Zc3h3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Zc3h3	APN	15	75,651,162 (GRCm39)	missense	probably damaging	1.00
1mM(1):Zc3h3	UTSW	15	75,712,414 (GRCm39)	critical splice acceptor site	probably null
R0843:Zc3h3	UTSW	15	75,709,328 (GRCm39)	missense	probably benign	0.00
R1891:Zc3h3	UTSW	15	75,628,780 (GRCm39)	missense	possibly damaging	0.47
R1918:Zc3h3	UTSW	15	75,648,967 (GRCm39)	missense	probably damaging	1.00
R2009:Zc3h3	UTSW	15	75,651,158 (GRCm39)	missense	probably damaging	1.00
R2257:Zc3h3	UTSW	15	75,711,415 (GRCm39)	missense	possibly damaging	0.77
R3853:Zc3h3	UTSW	15	75,709,346 (GRCm39)	missense	probably benign	0.03
R5130:Zc3h3	UTSW	15	75,651,139 (GRCm39)	missense	probably damaging	1.00
R5160:Zc3h3	UTSW	15	75,681,512 (GRCm39)	missense	probably benign	0.02
R5164:Zc3h3	UTSW	15	75,648,875 (GRCm39)	missense	probably benign	0.02
R5279:Zc3h3	UTSW	15	75,711,439 (GRCm39)	missense	probably benign	0.08
R5622:Zc3h3	UTSW	15	75,648,928 (GRCm39)	missense	probably damaging	1.00
R5743:Zc3h3	UTSW	15	75,651,380 (GRCm39)	nonsense	probably null
R5923:Zc3h3	UTSW	15	75,657,413 (GRCm39)	missense	probably damaging	0.99
R6294:Zc3h3	UTSW	15	75,681,417 (GRCm39)	missense	possibly damaging	0.90
R6377:Zc3h3	UTSW	15	75,711,304 (GRCm39)	missense	probably damaging	0.99
R6735:Zc3h3	UTSW	15	75,628,483 (GRCm39)	missense	probably benign	0.00
R7043:Zc3h3	UTSW	15	75,681,485 (GRCm39)	missense	probably damaging	1.00
R7231:Zc3h3	UTSW	15	75,712,231 (GRCm39)	missense	probably damaging	1.00
R8974:Zc3h3	UTSW	15	75,657,452 (GRCm39)	missense	probably benign	0.00
R9038:Zc3h3	UTSW	15	75,711,237 (GRCm39)	missense	probably benign	0.01
R9068:Zc3h3	UTSW	15	75,711,499 (GRCm39)	missense	probably benign
R9557:Zc3h3	UTSW	15	75,711,145 (GRCm39)	missense	probably damaging	1.00
R9567:Zc3h3	UTSW	15	75,651,261 (GRCm39)	missense	probably damaging	1.00
R9681:Zc3h3	UTSW	15	75,681,470 (GRCm39)	missense	probably damaging	1.00
R9765:Zc3h3	UTSW	15	75,709,459 (GRCm39)	missense	probably benign	0.04
R9782:Zc3h3	UTSW	15	75,681,489 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAAGTTGCTGTACCCCTCAGTC -3'
(R):5'- AGGGTGATGGTCTCCAGCAGAATC -3'

Sequencing Primer
(F):5'- tgtgagatggatggaattacagac -3'
(R):5'- TCTCCAGCAGAATCTGGGTG -3'

Posted On

2013-05-23