Mutagenetix > Incidental Mutation

Incidental Mutation 'R2328:Zc3h6'

245748

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

4631426G04Rik, 4833425H18Rik

MMRRC Submission

040319-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R2328 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128809322-128860483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128835122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 86 (D86G)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110319] [ENSMUST00000110320]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110319
AA Change: D86G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105948
Gene: ENSMUSG00000042851
AA Change: D86G

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
coiled coil region	30	71	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110320
AA Change: D86G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: D86G

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
coiled coil region	30	71	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
ZnF_C3H1	271	296	1.72e-4	SMART
ZnF_C3H1	300	325	2.51e-6	SMART
ZnF_C3H1	326	349	5.24e0	SMART
coiled coil region	351	383	N/A	INTRINSIC
low complexity region	385	400	N/A	INTRINSIC
low complexity region	493	509	N/A	INTRINSIC
low complexity region	698	707	N/A	INTRINSIC
low complexity region	784	798	N/A	INTRINSIC
low complexity region	815	829	N/A	INTRINSIC
low complexity region	876	890	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	A	4: 144,182,502 (GRCm39)	Y322F	probably benign	Het
Abca5	T	C	11: 110,167,347 (GRCm39)	T1490A	probably damaging	Het
Akap1	A	G	11: 88,735,870 (GRCm39)	V264A	possibly damaging	Het
Cggbp1	A	G	16: 64,676,366 (GRCm39)	D144G	probably benign	Het
Cubn	C	A	2: 13,408,891 (GRCm39)	G1352*	probably null	Het
Cyfip1	T	A	7: 55,544,739 (GRCm39)	M457K	possibly damaging	Het
Dag1	T	C	9: 108,086,451 (GRCm39)	N230S	probably damaging	Het
Dbh	T	C	2: 27,055,742 (GRCm39)	V72A	probably benign	Het
Dnah11	A	G	12: 117,850,421 (GRCm39)	S4218P	probably damaging	Het
Dnah8	A	T	17: 31,013,718 (GRCm39)	I3820F	probably damaging	Het
Erbb3	C	T	10: 128,419,562 (GRCm39)	C186Y	probably damaging	Het
Foxd1	T	C	13: 98,491,660 (GRCm39)	I178T	probably damaging	Het
Gpc5	C	T	14: 116,025,591 (GRCm39)	R470W	probably damaging	Het
Hace1	G	T	10: 45,525,041 (GRCm39)	R269L	probably benign	Het
Inpp5a	A	T	7: 139,058,010 (GRCm39)	K73*	probably null	Het
Or10d5j	A	G	9: 39,868,196 (GRCm39)	F24L	possibly damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Pzp	T	C	6: 128,487,353 (GRCm39)	I504V	possibly damaging	Het
Scgb1b19	T	A	7: 32,987,911 (GRCm39)	C93S	probably damaging	Het
Setx	TGTGG	T	2: 29,044,072 (GRCm39)		probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slamf6	G	A	1: 171,761,818 (GRCm39)	V80I	probably benign	Het
Snapc3	T	A	4: 83,353,514 (GRCm39)	Y184*	probably null	Het
Spg21	T	C	9: 65,394,155 (GRCm39)	I284T	possibly damaging	Het
Tas2r123	A	T	6: 132,824,279 (GRCm39)	T59S	probably benign	Het
Trip11	T	G	12: 101,845,086 (GRCm39)	*139C	probably null	Het
Trp53inp1	T	C	4: 11,164,495 (GRCm39)	V13A	probably benign	Het
Wtap	C	T	17: 13,186,425 (GRCm39)	R374Q	possibly damaging	Het
Ydjc	A	G	16: 16,964,986 (GRCm39)	E47G	possibly damaging	Het

Other mutations in Zc3h6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Zc3h6	APN	2	128,853,795 (GRCm39)	missense	probably damaging	1.00
IGL01880:Zc3h6	APN	2	128,859,298 (GRCm39)	missense	probably damaging	0.99
IGL02160:Zc3h6	APN	2	128,839,605 (GRCm39)	missense	probably benign	0.02
IGL02161:Zc3h6	APN	2	128,835,146 (GRCm39)	missense	possibly damaging	0.90
IGL02202:Zc3h6	APN	2	128,858,501 (GRCm39)	missense	probably damaging	1.00
IGL02547:Zc3h6	APN	2	128,857,531 (GRCm39)	missense	probably benign	0.00
IGL02973:Zc3h6	APN	2	128,839,715 (GRCm39)	missense	probably damaging	0.98
BB001:Zc3h6	UTSW	2	128,857,400 (GRCm39)	missense	possibly damaging	0.52
BB011:Zc3h6	UTSW	2	128,857,400 (GRCm39)	missense	possibly damaging	0.52
R0336:Zc3h6	UTSW	2	128,857,332 (GRCm39)	missense	possibly damaging	0.81
R0420:Zc3h6	UTSW	2	128,856,747 (GRCm39)	missense	probably benign	0.00
R0538:Zc3h6	UTSW	2	128,859,143 (GRCm39)	missense	possibly damaging	0.75
R0944:Zc3h6	UTSW	2	128,848,736 (GRCm39)	missense	probably damaging	1.00
R1151:Zc3h6	UTSW	2	128,859,056 (GRCm39)	missense	probably benign	0.00
R1528:Zc3h6	UTSW	2	128,858,989 (GRCm39)	missense	probably benign	0.01
R1698:Zc3h6	UTSW	2	128,859,278 (GRCm39)	missense	probably benign
R1712:Zc3h6	UTSW	2	128,858,654 (GRCm39)	missense	probably damaging	1.00
R1913:Zc3h6	UTSW	2	128,858,540 (GRCm39)	missense	probably damaging	1.00
R1926:Zc3h6	UTSW	2	128,839,715 (GRCm39)	missense	probably damaging	0.98
R2030:Zc3h6	UTSW	2	128,848,006 (GRCm39)	missense	probably damaging	1.00
R2051:Zc3h6	UTSW	2	128,857,538 (GRCm39)	missense	possibly damaging	0.55
R2133:Zc3h6	UTSW	2	128,809,750 (GRCm39)	missense	possibly damaging	0.53
R2273:Zc3h6	UTSW	2	128,856,629 (GRCm39)	missense	probably benign	0.01
R2862:Zc3h6	UTSW	2	128,857,380 (GRCm39)	missense	probably benign	0.43
R2899:Zc3h6	UTSW	2	128,844,152 (GRCm39)	missense	probably benign	0.00
R3711:Zc3h6	UTSW	2	128,859,251 (GRCm39)	missense	probably benign	0.00
R3743:Zc3h6	UTSW	2	128,839,712 (GRCm39)	missense	probably damaging	1.00
R3893:Zc3h6	UTSW	2	128,858,060 (GRCm39)	missense	probably damaging	1.00
R4748:Zc3h6	UTSW	2	128,844,160 (GRCm39)	missense	probably damaging	1.00
R5025:Zc3h6	UTSW	2	128,852,353 (GRCm39)	missense	possibly damaging	0.87
R5026:Zc3h6	UTSW	2	128,859,229 (GRCm39)	missense	probably benign	0.00
R5125:Zc3h6	UTSW	2	128,856,399 (GRCm39)	missense	possibly damaging	0.93
R5373:Zc3h6	UTSW	2	128,844,076 (GRCm39)	missense	possibly damaging	0.75
R5374:Zc3h6	UTSW	2	128,844,076 (GRCm39)	missense	possibly damaging	0.75
R5703:Zc3h6	UTSW	2	128,835,372 (GRCm39)	intron	probably benign
R5802:Zc3h6	UTSW	2	128,857,479 (GRCm39)	missense	possibly damaging	0.56
R5876:Zc3h6	UTSW	2	128,835,197 (GRCm39)	missense	probably benign	0.29
R5879:Zc3h6	UTSW	2	128,839,696 (GRCm39)	splice site	probably null
R5950:Zc3h6	UTSW	2	128,839,710 (GRCm39)	nonsense	probably null
R6031:Zc3h6	UTSW	2	128,809,732 (GRCm39)	missense	possibly damaging	0.85
R6031:Zc3h6	UTSW	2	128,809,732 (GRCm39)	missense	possibly damaging	0.85
R6781:Zc3h6	UTSW	2	128,857,341 (GRCm39)	missense	probably damaging	0.99
R7323:Zc3h6	UTSW	2	128,835,331 (GRCm39)	missense	unknown
R7340:Zc3h6	UTSW	2	128,835,110 (GRCm39)	missense	possibly damaging	0.90
R7572:Zc3h6	UTSW	2	128,859,172 (GRCm39)	missense	probably benign	0.02
R7576:Zc3h6	UTSW	2	128,856,473 (GRCm39)	missense	probably damaging	1.00
R7797:Zc3h6	UTSW	2	128,857,555 (GRCm39)	critical splice donor site	probably null
R7924:Zc3h6	UTSW	2	128,857,400 (GRCm39)	missense	possibly damaging	0.52
R8048:Zc3h6	UTSW	2	128,858,934 (GRCm39)	missense	probably benign	0.30
R8877:Zc3h6	UTSW	2	128,856,319 (GRCm39)	nonsense	probably null
R9076:Zc3h6	UTSW	2	128,859,096 (GRCm39)	nonsense	probably null
R9577:Zc3h6	UTSW	2	128,858,102 (GRCm39)	missense
R9687:Zc3h6	UTSW	2	128,859,281 (GRCm39)	missense	probably damaging	1.00
R9745:Zc3h6	UTSW	2	128,859,155 (GRCm39)	missense	probably benign	0.08
Z1176:Zc3h6	UTSW	2	128,858,141 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCTTAGAGCAAGAATTTCTCAATGT -3'
(R):5'- ATGCCCTTGGACACTCCTT -3'

Sequencing Primer
(F):5'- GAGCAAGAATTTCTCAATGTCATCC -3'
(R):5'- ACCACAGTGATGGCTGAATTCTG -3'

Posted On

2014-10-30