Mutagenetix > Incidental Mutation

Incidental Mutation 'R8268:Zc2hc1c'

639551

Institutional Source

Beutler Lab

Gene Symbol

Zc2hc1c

Ensembl Gene

ENSMUSG00000045064

Gene Name

zinc finger, C2HC-type containing 1C

Synonyms

2810002I04Rik, Fam164c

MMRRC Submission

067692-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R8268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85321060-85346132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85336595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 84 (S84F)

Ref Sequence

ENSEMBL: ENSMUSP00000051664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059341] [ENSMUST00000121930]

AlphaFold

Q8CCG1

Predicted Effect

probably benign
Transcript: ENSMUST00000059341
AA Change: S84F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000051664
Gene: ENSMUSG00000045064
AA Change: S84F

Domain	Start	End	E-Value	Type
low complexity region	93	106	N/A	INTRINSIC
coiled coil region	207	254	N/A	INTRINSIC
Pfam:zf-C2HC_2	378	402	3.6e-10	PFAM
low complexity region	433	444	N/A	INTRINSIC
Pfam:zf-C2HC_2	489	513	3.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121930

SMART Domains

Protein: ENSMUSP00000112609
Gene: ENSMUSG00000008822

Domain	Start	End	E-Value	Type
Pfam:Acylphosphatase	64	156	4.5e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	T	8: 71,909,961 (GRCm39)	C396S	probably benign	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Ciapin1	A	G	8: 95,558,511 (GRCm39)	V67A	probably benign	Het
Col7a1	A	G	9: 108,802,057 (GRCm39)	R2018G	unknown	Het
Dnah11	A	T	12: 117,991,243 (GRCm39)	Y2374*	probably null	Het
Dnah7b	G	T	1: 46,395,736 (GRCm39)	M3879I	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Gm12258	A	C	11: 58,745,084 (GRCm39)		probably null	Het
Hpse	A	G	5: 100,846,907 (GRCm39)	L174S	probably damaging	Het
Hspa8	A	G	9: 40,714,448 (GRCm39)	K248R	probably damaging	Het
Kcnt2	A	C	1: 140,450,954 (GRCm39)	R744S	probably damaging	Het
Klhl32	G	A	4: 24,800,843 (GRCm39)		probably benign	Het
Mkrn3	A	G	7: 62,068,270 (GRCm39)	L507P	probably damaging	Het
Myom2	T	G	8: 15,179,157 (GRCm39)	F1330V	probably damaging	Het
Nr1d2	A	G	14: 18,216,659 (GRCm38)	S170P	probably damaging	Het
Nt5dc1	T	C	10: 34,186,407 (GRCm39)	D388G	probably damaging	Het
Or12e9	C	A	2: 87,202,332 (GRCm39)	A152E	probably damaging	Het
Or13a17	A	G	7: 140,271,430 (GRCm39)	D204G	probably damaging	Het
Or4a68	T	C	2: 89,269,780 (GRCm39)	N281S	probably damaging	Het
Or7a36	T	A	10: 78,819,831 (GRCm39)	V69E	probably damaging	Het
Pigg	T	A	5: 108,486,509 (GRCm39)	S721T	probably damaging	Het
Prr5	T	C	15: 84,587,192 (GRCm39)	L323P	probably benign	Het
Rapgef2	T	A	3: 78,993,263 (GRCm39)	I742L	probably benign	Het
Rxrb	A	G	17: 34,254,750 (GRCm39)	S302G	probably benign	Het
Setd5	T	G	6: 113,126,651 (GRCm39)		probably null	Het
Sh3bgr	A	G	16: 96,025,674 (GRCm39)	T187A	unknown	Het
Sh3pxd2a	C	T	19: 47,256,033 (GRCm39)	R923H	probably benign	Het
Slc26a10	A	G	10: 127,009,491 (GRCm39)		probably null	Het
Slc9a1	T	A	4: 133,097,934 (GRCm39)	V27E	probably benign	Het
Stard3nl	A	G	13: 19,560,629 (GRCm39)	S49P	probably damaging	Het
Stxbp2	G	A	8: 3,682,234 (GRCm39)	V17I		Het
Themis3	C	T	17: 66,862,786 (GRCm39)	E391K	probably benign	Het
Tia1	A	G	6: 86,404,996 (GRCm39)		probably benign	Het
Tmem167	T	C	13: 90,252,554 (GRCm39)	F70S	probably damaging	Het
Trpm6	C	A	19: 18,851,225 (GRCm39)	Q1729K	possibly damaging	Het
Tsc2	A	C	17: 24,818,984 (GRCm39)	L1285W	probably benign	Het
Uchl4	A	T	9: 64,142,791 (GRCm39)	I91F	probably damaging	Het
Wdfy3	C	T	5: 102,089,476 (GRCm39)	A573T	probably damaging	Het
Zfp143	A	G	7: 109,690,991 (GRCm39)	D515G	probably benign	Het

Other mutations in Zc2hc1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Zc2hc1c	APN	12	85,336,450 (GRCm39)	missense	probably benign	0.03
IGL02677:Zc2hc1c	APN	12	85,336,850 (GRCm39)	missense	probably benign	0.31
R1053:Zc2hc1c	UTSW	12	85,343,330 (GRCm39)	missense	probably damaging	1.00
R1696:Zc2hc1c	UTSW	12	85,337,555 (GRCm39)	missense	possibly damaging	0.86
R1724:Zc2hc1c	UTSW	12	85,336,586 (GRCm39)	missense	probably benign	0.00
R1905:Zc2hc1c	UTSW	12	85,337,288 (GRCm39)	missense	probably benign	0.03
R1996:Zc2hc1c	UTSW	12	85,343,434 (GRCm39)	missense	probably benign	0.31
R4463:Zc2hc1c	UTSW	12	85,337,071 (GRCm39)	missense	probably damaging	0.97
R4834:Zc2hc1c	UTSW	12	85,336,982 (GRCm39)	missense	probably damaging	1.00
R5070:Zc2hc1c	UTSW	12	85,337,288 (GRCm39)	missense	probably benign	0.03
R5943:Zc2hc1c	UTSW	12	85,336,483 (GRCm39)	missense	probably damaging	1.00
R6184:Zc2hc1c	UTSW	12	85,343,218 (GRCm39)	missense	probably damaging	0.96
R6701:Zc2hc1c	UTSW	12	85,336,446 (GRCm39)	splice site	probably null
R6704:Zc2hc1c	UTSW	12	85,337,258 (GRCm39)	missense	possibly damaging	0.84
R6719:Zc2hc1c	UTSW	12	85,337,446 (GRCm39)	missense	probably damaging	1.00
R7665:Zc2hc1c	UTSW	12	85,343,336 (GRCm39)	missense	possibly damaging	0.69
R8125:Zc2hc1c	UTSW	12	85,343,386 (GRCm39)	missense	probably damaging	1.00
R8154:Zc2hc1c	UTSW	12	85,336,946 (GRCm39)	missense	probably benign	0.00
R8356:Zc2hc1c	UTSW	12	85,337,471 (GRCm39)	missense	probably damaging	0.97
R8678:Zc2hc1c	UTSW	12	85,337,084 (GRCm39)	missense	probably benign	0.07
R8875:Zc2hc1c	UTSW	12	85,336,549 (GRCm39)	missense	possibly damaging	0.87
R9056:Zc2hc1c	UTSW	12	85,343,230 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AACAGAAGCTCCTGGACTCC -3'
(R):5'- CATCACTTGTACTATGTGACTTCCG -3'

Sequencing Primer
(F):5'- TCCTGGACTCCACTCAGCTAAG -3'
(R):5'- ACTATGTGACTTCCGGTGGACC -3'

Posted On

2020-07-28