Mutagenetix > Incidental Mutation

Incidental Mutation 'R6031:Zc3h6'

501772

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

MMRRC Submission

044203-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R6031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128967812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 3 (D3G)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099385] [ENSMUST00000110319] [ENSMUST00000110320]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099385

SMART Domains

Protein: ENSMUSP00000096983
Gene: ENSMUSG00000074807

Domain	Start	End	E-Value	Type
low complexity region	31	41	N/A	INTRINSIC
low complexity region	64	69	N/A	INTRINSIC
low complexity region	93	105	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110319
AA Change: D3G

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

SMART Domains

Protein: ENSMUSP00000105948
Gene: ENSMUSG00000042851
AA Change: D3G

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: D3G

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

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: D3G

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: 99.9%
3x: 99.5%
10x: 96.7%
20x: 88.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,995,252 (GRCm38)	Y304H	possibly damaging	Het
Add2	A	G	6: 86,098,673 (GRCm38)	E268G	probably damaging	Het
Akr1b3	A	C	6: 34,312,674 (GRCm38)	V67G	probably benign	Het
Alms1	A	T	6: 85,622,955 (GRCm38)	N1588Y	probably damaging	Het
Arhgap23	A	T	11: 97,476,139 (GRCm38)	D1082V	probably damaging	Het
Asb6	A	G	2: 30,824,195 (GRCm38)	V301A	probably benign	Het
Ascc3	C	T	10: 50,842,183 (GRCm38)	R1991*	probably null	Het
Atg7	T	A	6: 114,671,233 (GRCm38)	C31S	probably benign	Het
Camsap2	A	T	1: 136,280,438 (GRCm38)	N1105K	possibly damaging	Het
Ccdc125	C	T	13: 100,684,369 (GRCm38)		probably null	Het
Ccdc63	T	C	5: 122,129,736 (GRCm38)	I56V	possibly damaging	Het
Cpd	T	C	11: 76,790,888 (GRCm38)	E1143G	probably benign	Het
Cpt1a	T	A	19: 3,371,556 (GRCm38)		probably null	Het
Creb3l2	A	T	6: 37,334,434 (GRCm38)	D473E	probably benign	Het
Crocc	A	T	4: 141,034,357 (GRCm38)		probably null	Het
Ctsd	A	T	7: 142,376,714 (GRCm38)	C364S	probably damaging	Het
Disp2	G	T	2: 118,789,794 (GRCm38)	V336L	probably benign	Het
Efr3b	A	G	12: 3,967,106 (GRCm38)	I782T	possibly damaging	Het
Fam98a	A	G	17: 75,539,432 (GRCm38)	V230A	probably damaging	Het
Fat3	T	A	9: 15,988,492 (GRCm38)	T3082S	probably benign	Het
Frmd3	T	C	4: 74,187,451 (GRCm38)	Y445H	probably damaging	Het
Galt	G	A	4: 41,757,202 (GRCm38)	R185Q	probably benign	Het
Gatb	T	C	3: 85,613,511 (GRCm38)	I309T	possibly damaging	Het
Gfi1b	G	A	2: 28,613,808 (GRCm38)	Q127*	probably null	Het
Gfpt1	C	A	6: 87,086,320 (GRCm38)	T563N	probably damaging	Het
Gria1	A	G	11: 57,217,782 (GRCm38)	D237G	probably damaging	Het
Hspbp1	A	T	7: 4,663,466 (GRCm38)	V305D	probably benign	Het
Hyls1	G	A	9: 35,561,184 (GRCm38)	S312F	probably benign	Het
Iars	T	C	13: 49,705,831 (GRCm38)	V9A	probably damaging	Het
Ipo4	G	A	14: 55,632,139 (GRCm38)	P355S	probably damaging	Het
Jade2	G	T	11: 51,826,586 (GRCm38)	C314*	probably null	Het
Kri1	T	C	9: 21,275,269 (GRCm38)	E597G	probably benign	Het
Mcub	A	G	3: 129,926,389 (GRCm38)	Y152H	probably damaging	Het
Med23	C	T	10: 24,903,748 (GRCm38)	R542*	probably null	Het
Ndc80	T	C	17: 71,511,488 (GRCm38)	N291S	probably benign	Het
Nop2	T	C	6: 125,133,566 (GRCm38)		probably null	Het
Nrxn1	T	C	17: 90,588,790 (GRCm38)	N984S	probably damaging	Het
Ntm	A	C	9: 29,009,375 (GRCm38)	L86R	probably damaging	Het
Numa1	T	A	7: 102,012,012 (GRCm38)	D1847E	possibly damaging	Het
Odf2l	A	G	3: 145,139,863 (GRCm38)	Q334R	probably damaging	Het
Olfr1238	T	A	2: 89,406,972 (GRCm38)	T36S	probably damaging	Het
Olfr1333	A	T	4: 118,830,391 (GRCm38)		probably null	Het
Olfr199	T	C	16: 59,215,933 (GRCm38)	R227G	probably benign	Het
Olfr522	A	T	7: 140,162,809 (GRCm38)	V47E	possibly damaging	Het
Olfr706	C	T	7: 106,885,927 (GRCm38)	V297I	possibly damaging	Het
Olfr772	A	G	10: 129,174,355 (GRCm38)	V222A	probably benign	Het
Pcdhb19	A	T	18: 37,497,723 (GRCm38)	K190N	probably damaging	Het
Pdik1l	A	G	4: 134,279,041 (GRCm38)	F197L	probably damaging	Het
Rnf113a2	T	C	12: 84,417,990 (GRCm38)	F219L	probably damaging	Het
Rnf208	A	C	2: 25,243,764 (GRCm38)	T157P	probably damaging	Het
Scn8a	A	T	15: 100,983,984 (GRCm38)	D644V	probably damaging	Het
Thbs3	T	A	3: 89,218,094 (GRCm38)	C204S	probably damaging	Het
Tlr3	A	G	8: 45,398,528 (GRCm38)	I444T	probably damaging	Het
Tmem206	A	G	1: 191,340,840 (GRCm38)	R153G	probably benign	Het
Trpm8	A	T	1: 88,354,469 (GRCm38)	I696F	possibly damaging	Het
Ttn	A	T	2: 76,830,597 (GRCm38)	V7422D	possibly damaging	Het
Ufl1	A	G	4: 25,278,038 (GRCm38)	V139A	probably benign	Het
Uggt2	A	T	14: 119,070,826 (GRCm38)	V381D	probably benign	Het
Vgll3	T	A	16: 65,839,481 (GRCm38)	Y173N	probably damaging	Het
Vmn1r9	A	G	6: 57,071,173 (GRCm38)	T78A	probably benign	Het
Vps13b	T	A	15: 35,471,968 (GRCm38)	L806M	probably damaging	Het
Vps13d	A	C	4: 145,168,509 (GRCm38)	H394Q	probably benign	Het
Wdr53	T	A	16: 32,256,718 (GRCm38)	V247D	probably damaging	Het
Wdr81	A	T	11: 75,447,869 (GRCm38)	L1488Q	probably damaging	Het
Zfp93	G	T	7: 24,276,300 (GRCm38)	C570F	probably damaging	Het
Zfp943	C	T	17: 21,993,376 (GRCm38)	T481I	probably benign	Het

Other mutations in Zc3h6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Zc3h6	APN	2	129,011,875 (GRCm38)	missense	probably damaging	1.00
IGL01880:Zc3h6	APN	2	129,017,378 (GRCm38)	missense	probably damaging	0.99
IGL02160:Zc3h6	APN	2	128,997,685 (GRCm38)	missense	probably benign	0.02
IGL02161:Zc3h6	APN	2	128,993,226 (GRCm38)	missense	possibly damaging	0.90
IGL02202:Zc3h6	APN	2	129,016,581 (GRCm38)	missense	probably damaging	1.00
IGL02547:Zc3h6	APN	2	129,015,611 (GRCm38)	missense	probably benign	0.00
IGL02973:Zc3h6	APN	2	128,997,795 (GRCm38)	missense	probably damaging	0.98
BB001:Zc3h6	UTSW	2	129,015,480 (GRCm38)	missense	possibly damaging	0.52
BB011:Zc3h6	UTSW	2	129,015,480 (GRCm38)	missense	possibly damaging	0.52
R0336:Zc3h6	UTSW	2	129,015,412 (GRCm38)	missense	possibly damaging	0.81
R0420:Zc3h6	UTSW	2	129,014,827 (GRCm38)	missense	probably benign	0.00
R0538:Zc3h6	UTSW	2	129,017,223 (GRCm38)	missense	possibly damaging	0.75
R0944:Zc3h6	UTSW	2	129,006,816 (GRCm38)	missense	probably damaging	1.00
R1151:Zc3h6	UTSW	2	129,017,136 (GRCm38)	missense	probably benign	0.00
R1528:Zc3h6	UTSW	2	129,017,069 (GRCm38)	missense	probably benign	0.01
R1698:Zc3h6	UTSW	2	129,017,358 (GRCm38)	missense	probably benign
R1712:Zc3h6	UTSW	2	129,016,734 (GRCm38)	missense	probably damaging	1.00
R1913:Zc3h6	UTSW	2	129,016,620 (GRCm38)	missense	probably damaging	1.00
R1926:Zc3h6	UTSW	2	128,997,795 (GRCm38)	missense	probably damaging	0.98
R2030:Zc3h6	UTSW	2	129,006,086 (GRCm38)	missense	probably damaging	1.00
R2051:Zc3h6	UTSW	2	129,015,618 (GRCm38)	missense	possibly damaging	0.55
R2133:Zc3h6	UTSW	2	128,967,830 (GRCm38)	missense	possibly damaging	0.53
R2273:Zc3h6	UTSW	2	129,014,709 (GRCm38)	missense	probably benign	0.01
R2328:Zc3h6	UTSW	2	128,993,202 (GRCm38)	missense	possibly damaging	0.85
R2862:Zc3h6	UTSW	2	129,015,460 (GRCm38)	missense	probably benign	0.43
R2899:Zc3h6	UTSW	2	129,002,232 (GRCm38)	missense	probably benign	0.00
R3711:Zc3h6	UTSW	2	129,017,331 (GRCm38)	missense	probably benign	0.00
R3743:Zc3h6	UTSW	2	128,997,792 (GRCm38)	missense	probably damaging	1.00
R3893:Zc3h6	UTSW	2	129,016,140 (GRCm38)	missense	probably damaging	1.00
R4748:Zc3h6	UTSW	2	129,002,240 (GRCm38)	missense	probably damaging	1.00
R5025:Zc3h6	UTSW	2	129,010,433 (GRCm38)	missense	possibly damaging	0.87
R5026:Zc3h6	UTSW	2	129,017,309 (GRCm38)	missense	probably benign	0.00
R5125:Zc3h6	UTSW	2	129,014,479 (GRCm38)	missense	possibly damaging	0.93
R5373:Zc3h6	UTSW	2	129,002,156 (GRCm38)	missense	possibly damaging	0.75
R5374:Zc3h6	UTSW	2	129,002,156 (GRCm38)	missense	possibly damaging	0.75
R5703:Zc3h6	UTSW	2	128,993,452 (GRCm38)	intron	probably benign
R5802:Zc3h6	UTSW	2	129,015,559 (GRCm38)	missense	possibly damaging	0.56
R5876:Zc3h6	UTSW	2	128,993,277 (GRCm38)	missense	probably benign	0.29
R5879:Zc3h6	UTSW	2	128,997,776 (GRCm38)	splice site	probably null
R5950:Zc3h6	UTSW	2	128,997,790 (GRCm38)	nonsense	probably null
R6031:Zc3h6	UTSW	2	128,967,812 (GRCm38)	missense	possibly damaging	0.85
R6781:Zc3h6	UTSW	2	129,015,421 (GRCm38)	missense	probably damaging	0.99
R7323:Zc3h6	UTSW	2	128,993,411 (GRCm38)	missense	unknown
R7340:Zc3h6	UTSW	2	128,993,190 (GRCm38)	missense	possibly damaging	0.90
R7572:Zc3h6	UTSW	2	129,017,252 (GRCm38)	missense	probably benign	0.02
R7576:Zc3h6	UTSW	2	129,014,553 (GRCm38)	missense	probably damaging	1.00
R7797:Zc3h6	UTSW	2	129,015,635 (GRCm38)	critical splice donor site	probably null
R7924:Zc3h6	UTSW	2	129,015,480 (GRCm38)	missense	possibly damaging	0.52
R8048:Zc3h6	UTSW	2	129,017,014 (GRCm38)	missense	probably benign	0.30
R8877:Zc3h6	UTSW	2	129,014,399 (GRCm38)	nonsense	probably null
R9076:Zc3h6	UTSW	2	129,017,176 (GRCm38)	nonsense	probably null
R9577:Zc3h6	UTSW	2	129,016,182 (GRCm38)	missense
R9687:Zc3h6	UTSW	2	129,017,361 (GRCm38)	missense	probably damaging	1.00
R9745:Zc3h6	UTSW	2	129,017,235 (GRCm38)	missense	probably benign	0.08
Z1176:Zc3h6	UTSW	2	129,016,221 (GRCm38)	missense	probably benign	0.01

Predicted Primers

Posted On

2017-12-01