Mutagenetix > Incidental Mutation

Incidental Mutation 'R1926:Zc3h6'

213415

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

MMRRC Submission

039944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128997795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 176 (R176Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110319

SMART Domains

Protein: ENSMUSP00000105948
Gene: ENSMUSG00000042851

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

probably damaging
Transcript: ENSMUST00000110320
AA Change: R176Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: R176Q

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: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,329,404	T1316I	probably benign	Het
Acsm3	C	T	7: 119,777,136	T362M	probably damaging	Het
Ang6	A	G	14: 44,002,238	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,244,169	Y1880H	probably damaging	Het
BC049730	G	A	7: 24,714,116	G186R	probably damaging	Het
Bmi1	A	G	2: 18,682,273	I55V	probably benign	Het
Bnipl	G	A	3: 95,243,043	T297M	probably damaging	Het
Bpifa2	T	C	2: 154,013,749	V198A	probably benign	Het
Brms1l	G	T	12: 55,863,161	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,650,788	V351A	probably benign	Het
Ces1c	A	G	8: 93,127,604	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,242,397	Y15H	probably benign	Het
Dglucy	A	T	12: 100,867,155	N535I	possibly damaging	Het
Dopey1	C	A	9: 86,523,019	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,473,824	M236I	probably benign	Het
Efna2	T	C	10: 80,186,876	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,864,837		probably null	Het
Eln	A	T	5: 134,706,567	Y787*	probably null	Het
Erbb2	G	C	11: 98,425,164	E364D	probably benign	Het
F5	A	G	1: 164,179,508	T294A	probably damaging	Het
Fam47e	A	G	5: 92,585,385	T194A	possibly damaging	Het
Galk1	T	C	11: 116,010,247	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,771,066	D163G	probably damaging	Het
Gmip	A	G	8: 69,815,520	E408G	probably benign	Het
Gp1ba	A	T	11: 70,640,889		probably benign	Het
Grm3	A	T	5: 9,504,881	C804S	probably damaging	Het
Gzmd	A	G	14: 56,130,280	C179R	probably damaging	Het
Hadhb	T	A	5: 30,180,937	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,916,165	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,068,531	T13A	probably benign	Het
Kat8	T	A	7: 127,915,295	Y67*	probably null	Het
Kcnab1	G	A	3: 65,376,512	E384K	possibly damaging	Het
Lhx3	A	T	2: 26,202,188	Y230*	probably null	Het
Lmx1b	T	A	2: 33,564,662	M365L	probably damaging	Het
Ly6k	G	T	15: 74,797,202	P76Q	probably benign	Het
Map1b	A	T	13: 99,430,692	H1840Q	unknown	Het
Map3k2	A	G	18: 32,203,110	I117V	probably damaging	Het
Med13	C	A	11: 86,289,073	A1350S	possibly damaging	Het
Midn	T	C	10: 80,151,661	S109P	probably damaging	Het
Msh6	A	G	17: 87,986,225	T803A	probably benign	Het
Nckap1	T	C	2: 80,506,838	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,407,395	N63K	probably benign	Het
Neb	A	T	2: 52,279,635	S1811R	probably damaging	Het
Notch1	T	C	2: 26,481,657	D260G	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Oas1g	T	C	5: 120,879,142	K283R	probably benign	Het
Obscn	T	C	11: 59,063,474	T4037A		Het
Olfr1414	A	G	1: 92,511,608	L140P	probably damaging	Het
Olfr449	T	G	6: 42,838,313	L144R	probably damaging	Het
Otop2	A	T	11: 115,326,955	T206S	probably benign	Het
Pamr1	A	G	2: 102,640,997		probably null	Het
Pkp1	G	A	1: 135,877,673	T675I	probably benign	Het
Plxna2	G	A	1: 194,762,450	V717I	probably benign	Het
Ptgs2	T	C	1: 150,100,228	L2P	possibly damaging	Het
Rarg	A	G	15: 102,239,545	F277S	probably damaging	Het
Rassf5	A	T	1: 131,212,339	I161N	probably damaging	Het
Rxfp4	A	G	3: 88,652,352	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,740,677	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,150,235	I275V	probably benign	Het
Slc2a12	T	C	10: 22,665,242	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,348,303	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,575,704	V77E	probably damaging	Het
Sp8	G	A	12: 118,849,229	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,763,057	N475K	probably benign	Het
St18	A	G	1: 6,802,689	H216R	probably benign	Het
Tcirg1	C	T	19: 3,902,843		probably benign	Het
Tmeff1	A	G	4: 48,658,788	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,792,900	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,881,162	R955L	probably damaging	Het
Trip12	A	G	1: 84,749,291	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,769,375	L263S	probably damaging	Het
Tubb6	G	A	18: 67,401,321		probably null	Het
Ube3a	T	C	7: 59,276,379	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,582,745	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,809,041	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,020,635	N741K	probably benign	Het
Yeats2	A	G	16: 20,214,426	T1034A	probably benign	Het
Zfp207	T	A	11: 80,395,427	Y424*	probably null	Het
Zfp729a	A	G	13: 67,619,557	V851A	probably benign	Het
Zkscan1	G	T	5: 138,101,363	A450S	probably benign	Het
Zkscan3	A	G	13: 21,396,446	V24A	possibly damaging	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
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
R7576:Zc3h6	UTSW	2	129014553	missense	probably damaging	1.00
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'- GACGTATATCAGGAAGTTACATGAC -3'
(R):5'- TTTAGGCTCAAGGTCTACACGG -3'

Sequencing Primer
(F):5'- ATCAGGAAGTTACATGACATCAAAG -3'
(R):5'- GCTCAAGGTCTACACGGTACAG -3'

Posted On

2014-07-14