Mutagenetix > Incidental Mutation

Incidental Mutation 'R5164:Zc3h3'

395614

Institutional Source

Beutler Lab

Gene Symbol

Zc3h3

Ensembl Gene

ENSMUSG00000075600

Gene Name

zinc finger CCCH type containing 3

Synonyms

Smicl

MMRRC Submission

042745-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R5164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75626279-75713764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75648875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 752 (S752R)

Ref Sequence

ENSEMBL: ENSMUSP00000098106 (fasta)

Gene Model

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

AlphaFold

Q8CHP0

Predicted Effect

probably benign
Transcript: ENSMUST00000100538
AA Change: S752R

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000098106
Gene: ENSMUSG00000075600
AA Change: S752R

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (49/50)

Allele List at MGI

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

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,583,793 (GRCm39)	H4637Q	probably benign	Het
Akap6	A	G	12: 53,189,249 (GRCm39)	H2221R	probably benign	Het
Arsj	A	T	3: 126,231,808 (GRCm39)	M185L	probably benign	Het
Ccdc177	T	C	12: 80,805,336 (GRCm39)	T313A	unknown	Het
Cdkal1	A	T	13: 29,809,702 (GRCm39)	L214H	probably damaging	Het
Cfap44	T	A	16: 44,301,752 (GRCm39)	I1830N	probably damaging	Het
Cfap65	T	C	1: 74,965,675 (GRCm39)	K445R	probably damaging	Het
Chrnb3	T	A	8: 27,884,160 (GRCm39)	I299N	probably damaging	Het
Cse1l	C	A	2: 166,786,348 (GRCm39)	D826E	probably benign	Het
Cwf19l2	T	C	9: 3,475,511 (GRCm39)	V816A	probably damaging	Het
Dnah5	A	T	15: 28,408,438 (GRCm39)	E3474D	probably benign	Het
Dock5	A	T	14: 68,055,110 (GRCm39)	Y585*	probably null	Het
Ebf2	T	C	14: 67,627,970 (GRCm39)	S322P	possibly damaging	Het
Epha8	T	C	4: 136,672,983 (GRCm39)	E267G	possibly damaging	Het
Fkbp5	A	G	17: 28,656,964 (GRCm39)		probably null	Het
Gbp4	T	A	5: 105,284,743 (GRCm39)	K49*	probably null	Het
Gramd4	A	T	15: 85,985,032 (GRCm39)	T98S	probably benign	Het
Hectd1	C	A	12: 51,874,272 (GRCm39)	M1I	probably null	Het
Hsd17b8	A	G	17: 34,245,952 (GRCm39)		probably benign	Het
Hycc2	T	C	1: 58,574,597 (GRCm39)	T315A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Keg1	A	G	19: 12,692,044 (GRCm39)		probably benign	Het
Lilra6	A	T	7: 3,917,880 (GRCm39)	V88E	probably damaging	Het
Mast1	A	G	8: 85,640,147 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,759,011 (GRCm39)		probably null	Het
Nrdc	C	T	4: 108,896,914 (GRCm39)	T511I	probably damaging	Het
Odad4	G	A	11: 100,462,346 (GRCm39)	W506*	probably null	Het
Or4c106	T	A	2: 88,682,914 (GRCm39)	L207I	probably benign	Het
Or5p6	G	A	7: 107,631,487 (GRCm39)	T21I	possibly damaging	Het
Or8k24	T	C	2: 86,215,815 (GRCm39)	T316A	probably benign	Het
Pms1	A	G	1: 53,246,799 (GRCm39)	V301A	probably damaging	Het
Pnisr	A	T	4: 21,859,237 (GRCm39)	Q144L	possibly damaging	Het
Pp2d1	G	T	17: 53,815,098 (GRCm39)	T542K	probably benign	Het
Ppargc1b	A	T	18: 61,435,715 (GRCm39)	C922S	probably damaging	Het
Ptprd	T	C	4: 76,018,995 (GRCm39)		probably null	Het
Runx3	T	C	4: 134,848,441 (GRCm39)	S9P	possibly damaging	Het
Serpina1b	A	G	12: 103,698,346 (GRCm39)	S168P	probably benign	Het
Slc14a2	G	A	18: 78,200,487 (GRCm39)	A722V	probably damaging	Het
Slc23a2	T	A	2: 131,917,370 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,243,886 (GRCm39)		probably null	Het
Tcf20	A	G	15: 82,740,804 (GRCm39)	S216P	probably damaging	Het
Tpst1	T	A	5: 130,130,842 (GRCm39)	I104N	probably damaging	Het
Ufm1	A	C	3: 53,765,348 (GRCm39)		probably benign	Het
Unkl	A	G	17: 25,432,083 (GRCm39)		probably null	Het
Usf3	T	C	16: 44,038,543 (GRCm39)	S1008P	probably damaging	Het
Ythdf3	T	C	3: 16,237,677 (GRCm39)	V6A	possibly damaging	Het
Zfp268	T	C	4: 145,348,775 (GRCm39)	Y71H	probably damaging	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
R0477:Zc3h3	UTSW	15	75,648,932 (GRCm39)	missense	possibly damaging	0.93
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
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'- AGTTGCTGTACCCCTCAGTC -3'
(R):5'- TGATGGTCTCCAGCAGAATCTG -3'

Sequencing Primer
(F):5'- ACCCCTCAGTCATTTGTGAGATGG -3'
(R):5'- CTCTCAAGGGCCTGCAAGTTTG -3'

Posted On

2016-06-21