Mutagenetix > Incidental Mutation

Incidental Mutation 'R7576:Zc3h6'

586399

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

MMRRC Submission

045661-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R7576 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129014553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 518 (P518S)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000110320
AA Change: P518S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: P518S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	A	T	4: 133,065,002	S1185C	possibly damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Alpk2	T	C	18: 65,306,816	D502G	possibly damaging	Het
Bcl2	A	G	1: 106,712,423	V153A	possibly damaging	Het
Brinp3	A	T	1: 146,901,563	S583C	probably damaging	Het
Calr4	A	T	4: 109,238,964	Q113L	probably benign	Het
Carm1	T	G	9: 21,586,536		probably null	Het
Ccdc30	A	G	4: 119,349,866	L353P	probably damaging	Het
Ccdc91	C	G	6: 147,590,459	Q280E	unknown	Het
Cdk5rap2	T	C	4: 70,266,872	T1114A	probably benign	Het
Enpep	T	A	3: 129,284,091	T626S	probably benign	Het
Epcam	T	C	17: 87,640,293	S64P	probably damaging	Het
Erc1	G	T	6: 119,824,760	P99T	possibly damaging	Het
Fastkd1	A	G	2: 69,694,644	L636S	probably damaging	Het
Fmn1	A	G	2: 113,365,008	D351G	unknown	Het
Fndc8	T	G	11: 82,897,574	S77A	probably damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gemin6	T	A	17: 80,225,726	Y29*	probably null	Het
Gja8	T	C	3: 96,919,893	E151G	probably benign	Het
Gje1	A	G	10: 14,716,757	Y94H	probably damaging	Het
Glt6d1	A	G	2: 25,814,122	F26S	probably benign	Het
Gltpd2	T	A	11: 70,519,480		probably null	Het
Gm10153	A	C	7: 142,190,122	C70G	unknown	Het
Gm28729	G	A	9: 96,494,357	T368M	probably damaging	Het
Gm4559	A	G	7: 142,273,940	C142R	unknown	Het
Golm1	T	C	13: 59,645,106	N195S	probably benign	Het
Hectd4	A	T	5: 121,349,459	S3506C	possibly damaging	Het
Hnrnpll	G	A	17: 80,044,514	S334L	possibly damaging	Het
Ighv7-3	A	T	12: 114,153,245	I99N	possibly damaging	Het
Igkv8-24	A	G	6: 70,217,018	S69P	not run	Het
Ilvbl	A	T	10: 78,583,697	H537L	possibly damaging	Het
Lama1	G	A	17: 67,782,041	G1569D		Het
Lin7b	A	T	7: 45,369,225	Y118*	probably null	Het
Mansc1	T	A	6: 134,610,711	S168C	possibly damaging	Het
Mast3	A	G	8: 70,781,194	V969A	probably damaging	Het
Muc4	C	T	16: 32,754,500	T1458I	probably benign	Het
Myh10	A	G	11: 68,802,166	E1429G	probably damaging	Het
Narfl	A	C	17: 25,778,970	T154P	probably damaging	Het
Neurod1	G	T	2: 79,454,345	Y231*	probably null	Het
Nrxn2	G	T	19: 6,531,510	E1492*	probably null	Het
Nwd2	A	G	5: 63,807,393	Q1440R	probably benign	Het
Olfr1038-ps	A	G	2: 86,122,376	Y151C	probably damaging	Het
Olfr1404	A	G	1: 173,215,971	T107A	probably benign	Het
Olfr5	T	A	7: 6,480,331	N275I	probably damaging	Het
Pacs1	T	A	19: 5,145,120	T479S	probably benign	Het
Pds5b	A	G	5: 150,778,261	K786E	probably damaging	Het
Pigp	A	G	16: 94,370,405	L9P	probably benign	Het
Plec	C	T	15: 76,187,746	R707Q	unknown	Het
Ppef2	T	A	5: 92,253,134	H9L	possibly damaging	Het
Ppid	T	A	3: 79,600,391	C296S	probably damaging	Het
Ppp2r5b	T	G	19: 6,228,484	E465A	possibly damaging	Het
Ppp4r4	A	G	12: 103,596,449	N559S	probably damaging	Het
Ptprt	T	C	2: 161,607,305	T873A	possibly damaging	Het
Rbpms	A	G	8: 33,866,388	V28A	probably damaging	Het
Retreg2	A	G	1: 75,144,688	M203V	probably damaging	Het
Rfx4	A	G	10: 84,863,349	E367G	probably damaging	Het
Robo1	C	T	16: 72,970,181	P414S	probably damaging	Het
Sac3d1	T	A	19: 6,116,148	E410D	probably damaging	Het
Scgb2b19	A	T	7: 33,279,786	C24S	possibly damaging	Het
She	T	C	3: 89,831,612	F37L	probably damaging	Het
Slc5a2	G	A	7: 128,265,805	V37I	probably damaging	Het
Smyd4	T	A	11: 75,390,206	D168E	probably benign	Het
Ssc5d	C	A	7: 4,928,573	P260T	probably damaging	Het
Steap2	A	G	5: 5,677,406	F310L	probably benign	Het
Tctn1	A	T	5: 122,248,008	I347N	probably damaging	Het
Tmtc2	A	G	10: 105,370,621	L271P	probably damaging	Het
Tns3	T	A	11: 8,541,192	M122L	possibly damaging	Het
Ubr7	T	G	12: 102,769,139	C286G	probably damaging	Het
Usp16	T	C	16: 87,479,300	S509P	probably benign	Het
Usp44	A	G	10: 93,846,428	T247A	probably damaging	Het
Vmn2r92	A	C	17: 18,167,359	M209L	probably benign	Het
Wdr34	C	T	2: 30,048,778	R31Q	probably benign	Het
Zfp229	A	G	17: 21,745,299	H170R	probably damaging	Het
Zfp960	A	G	17: 17,087,965	T314A	probably benign	Het

Other mutations in Zc3h6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Zc3h6	APN	2	129011875	missense	probably damaging	1.00
IGL01880:Zc3h6	APN	2	129017378	missense	probably damaging	0.99
IGL02160:Zc3h6	APN	2	128997685	missense	probably benign	0.02
IGL02161:Zc3h6	APN	2	128993226	missense	possibly damaging	0.90
IGL02202:Zc3h6	APN	2	129016581	missense	probably damaging	1.00
IGL02547:Zc3h6	APN	2	129015611	missense	probably benign	0.00
IGL02973:Zc3h6	APN	2	128997795	missense	probably damaging	0.98
BB001:Zc3h6	UTSW	2	129015480	missense	possibly damaging	0.52
BB011:Zc3h6	UTSW	2	129015480	missense	possibly damaging	0.52
R0336:Zc3h6	UTSW	2	129015412	missense	possibly damaging	0.81
R0420:Zc3h6	UTSW	2	129014827	missense	probably benign	0.00
R0538:Zc3h6	UTSW	2	129017223	missense	possibly damaging	0.75
R0944:Zc3h6	UTSW	2	129006816	missense	probably damaging	1.00
R1151:Zc3h6	UTSW	2	129017136	missense	probably benign	0.00
R1528:Zc3h6	UTSW	2	129017069	missense	probably benign	0.01
R1698:Zc3h6	UTSW	2	129017358	missense	probably benign
R1712:Zc3h6	UTSW	2	129016734	missense	probably damaging	1.00
R1913:Zc3h6	UTSW	2	129016620	missense	probably damaging	1.00
R1926:Zc3h6	UTSW	2	128997795	missense	probably damaging	0.98
R2030:Zc3h6	UTSW	2	129006086	missense	probably damaging	1.00
R2051:Zc3h6	UTSW	2	129015618	missense	possibly damaging	0.55
R2133:Zc3h6	UTSW	2	128967830	missense	possibly damaging	0.53
R2273:Zc3h6	UTSW	2	129014709	missense	probably benign	0.01
R2328:Zc3h6	UTSW	2	128993202	missense	possibly damaging	0.85
R2862:Zc3h6	UTSW	2	129015460	missense	probably benign	0.43
R2899:Zc3h6	UTSW	2	129002232	missense	probably benign	0.00
R3711:Zc3h6	UTSW	2	129017331	missense	probably benign	0.00
R3743:Zc3h6	UTSW	2	128997792	missense	probably damaging	1.00
R3893:Zc3h6	UTSW	2	129016140	missense	probably damaging	1.00
R4748:Zc3h6	UTSW	2	129002240	missense	probably damaging	1.00
R5025:Zc3h6	UTSW	2	129010433	missense	possibly damaging	0.87
R5026:Zc3h6	UTSW	2	129017309	missense	probably benign	0.00
R5125:Zc3h6	UTSW	2	129014479	missense	possibly damaging	0.93
R5373:Zc3h6	UTSW	2	129002156	missense	possibly damaging	0.75
R5374:Zc3h6	UTSW	2	129002156	missense	possibly damaging	0.75
R5703:Zc3h6	UTSW	2	128993452	intron	probably benign
R5802:Zc3h6	UTSW	2	129015559	missense	possibly damaging	0.56
R5876:Zc3h6	UTSW	2	128993277	missense	probably benign	0.29
R5879:Zc3h6	UTSW	2	128997776	splice site	probably null
R5950:Zc3h6	UTSW	2	128997790	nonsense	probably null
R6031:Zc3h6	UTSW	2	128967812	missense	possibly damaging	0.85
R6031:Zc3h6	UTSW	2	128967812	missense	possibly damaging	0.85
R6781:Zc3h6	UTSW	2	129015421	missense	probably damaging	0.99
R7323:Zc3h6	UTSW	2	128993411	missense	unknown
R7340:Zc3h6	UTSW	2	128993190	missense	possibly damaging	0.90
R7572:Zc3h6	UTSW	2	129017252	missense	probably benign	0.02
R7797:Zc3h6	UTSW	2	129015635	critical splice donor site	probably null
R7924:Zc3h6	UTSW	2	129015480	missense	possibly damaging	0.52
R8048:Zc3h6	UTSW	2	129017014	missense	probably benign	0.30
R8877:Zc3h6	UTSW	2	129014399	nonsense	probably null
R9076:Zc3h6	UTSW	2	129017176	nonsense	probably null
R9577:Zc3h6	UTSW	2	129016182	missense
R9687:Zc3h6	UTSW	2	129017361	missense	probably damaging	1.00
R9745:Zc3h6	UTSW	2	129017235	missense	probably benign	0.08
Z1176:Zc3h6	UTSW	2	129016221	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGAAAGCAGTCACTGTCCAC -3'
(R):5'- TCATAAAATTCAGCTGAGCCTTGC -3'

Sequencing Primer
(F):5'- TGTCCACAGCGTATGTACAG -3'
(R):5'- TGAGCCTTGCATGGACTCAGAG -3'

Posted On

2019-10-24