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

4631426G04Rik, 4833425H18Rik

MMRRC Submission

039944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128809322-128860483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128839715 bp (GRCm39)

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
Acsm3	C	T	7: 119,376,359 (GRCm39)	T362M	probably damaging	Het
Ang6	A	G	14: 44,239,695 (GRCm39)	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,392,028 (GRCm39)	Y1880H	probably damaging	Het
Bmi1	A	G	2: 18,687,084 (GRCm39)	I55V	probably benign	Het
Bnipl	G	A	3: 95,150,354 (GRCm39)	T297M	probably damaging	Het
Bpifa2	T	C	2: 153,855,669 (GRCm39)	V198A	probably benign	Het
Brms1l	G	T	12: 55,909,946 (GRCm39)	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Ces1c	A	G	8: 93,854,232 (GRCm39)	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,479,837 (GRCm39)	Y15H	probably benign	Het
Dglucy	A	T	12: 100,833,414 (GRCm39)	N535I	possibly damaging	Het
Dop1a	C	A	9: 86,405,072 (GRCm39)	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,385,120 (GRCm39)	M236I	probably benign	Het
Efna2	T	C	10: 80,022,710 (GRCm39)	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,914,836 (GRCm39)		probably null	Het
Eln	A	T	5: 134,735,421 (GRCm39)	Y787*	probably null	Het
Erbb2	G	C	11: 98,315,990 (GRCm39)	E364D	probably benign	Het
F5	A	G	1: 164,007,077 (GRCm39)	T294A	probably damaging	Het
Fam47e	A	G	5: 92,733,244 (GRCm39)	T194A	possibly damaging	Het
Galk1	T	C	11: 115,901,073 (GRCm39)	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,682,362 (GRCm39)	D163G	probably damaging	Het
Gmip	A	G	8: 70,268,170 (GRCm39)	E408G	probably benign	Het
Gp1ba	A	T	11: 70,531,715 (GRCm39)		probably benign	Het
Grm3	A	T	5: 9,554,881 (GRCm39)	C804S	probably damaging	Het
Gzmd	A	G	14: 56,367,737 (GRCm39)	C179R	probably damaging	Het
Hadhb	T	A	5: 30,385,935 (GRCm39)	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,823,498 (GRCm39)	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,045,516 (GRCm39)	T13A	probably benign	Het
Kat8	T	A	7: 127,514,467 (GRCm39)	Y67*	probably null	Het
Kcnab1	G	A	3: 65,283,933 (GRCm39)	E384K	possibly damaging	Het
Lhx3	A	T	2: 26,092,200 (GRCm39)	Y230*	probably null	Het
Lmx1b	T	A	2: 33,454,674 (GRCm39)	M365L	probably damaging	Het
Ly6k	G	T	15: 74,669,051 (GRCm39)	P76Q	probably benign	Het
Lypd10	G	A	7: 24,413,541 (GRCm39)	G186R	probably damaging	Het
Map1b	A	T	13: 99,567,200 (GRCm39)	H1840Q	unknown	Het
Map3k2	A	G	18: 32,336,163 (GRCm39)	I117V	probably damaging	Het
Med13	C	A	11: 86,179,899 (GRCm39)	A1350S	possibly damaging	Het
Midn	T	C	10: 79,987,495 (GRCm39)	S109P	probably damaging	Het
Msh6	A	G	17: 88,293,653 (GRCm39)	T803A	probably benign	Het
Nckap1	T	C	2: 80,337,182 (GRCm39)	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,314,816 (GRCm39)	N63K	probably benign	Het
Neb	A	T	2: 52,169,647 (GRCm39)	S1811R	probably damaging	Het
Notch1	T	C	2: 26,371,669 (GRCm39)	D260G	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Oas1g	T	C	5: 121,017,205 (GRCm39)	K283R	probably benign	Het
Obscn	T	C	11: 58,954,300 (GRCm39)	T4037A		Het
Or6b1	T	G	6: 42,815,247 (GRCm39)	L144R	probably damaging	Het
Or6b3	A	G	1: 92,439,330 (GRCm39)	L140P	probably damaging	Het
Otop2	A	T	11: 115,217,781 (GRCm39)	T206S	probably benign	Het
Pamr1	A	G	2: 102,471,342 (GRCm39)		probably null	Het
Pkp1	G	A	1: 135,805,411 (GRCm39)	T675I	probably benign	Het
Plxna2	G	A	1: 194,444,758 (GRCm39)	V717I	probably benign	Het
Ptgs2	T	C	1: 149,975,979 (GRCm39)	L2P	possibly damaging	Het
Rarg	A	G	15: 102,147,980 (GRCm39)	F277S	probably damaging	Het
Rassf5	A	T	1: 131,140,076 (GRCm39)	I161N	probably damaging	Het
Resf1	C	T	6: 149,230,902 (GRCm39)	T1316I	probably benign	Het
Rxfp4	A	G	3: 88,559,659 (GRCm39)	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,582,597 (GRCm39)	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,334,218 (GRCm39)	I275V	probably benign	Het
Slc2a12	T	C	10: 22,541,141 (GRCm39)	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,285,113 (GRCm39)	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,393,568 (GRCm39)	V77E	probably damaging	Het
Sp8	G	A	12: 118,812,964 (GRCm39)	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,580,921 (GRCm39)	N475K	probably benign	Het
St18	A	G	1: 6,872,913 (GRCm39)	H216R	probably benign	Het
Tcirg1	C	T	19: 3,952,843 (GRCm39)		probably benign	Het
Tmeff1	A	G	4: 48,658,788 (GRCm39)	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,683,726 (GRCm39)	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,765,363 (GRCm39)	R955L	probably damaging	Het
Trip12	A	G	1: 84,727,012 (GRCm39)	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,468,800 (GRCm39)	L263S	probably damaging	Het
Tubb6	G	A	18: 67,534,391 (GRCm39)		probably null	Het
Ube3a	T	C	7: 58,926,127 (GRCm39)	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,629,519 (GRCm39)	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,508,466 (GRCm39)	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,258,075 (GRCm39)	N741K	probably benign	Het
Yeats2	A	G	16: 20,033,176 (GRCm39)	T1034A	probably benign	Het
Zfp207	T	A	11: 80,286,253 (GRCm39)	Y424*	probably null	Het
Zfp729a	A	G	13: 67,767,676 (GRCm39)	V851A	probably benign	Het
Zkscan1	G	T	5: 138,099,625 (GRCm39)	A450S	probably benign	Het
Zkscan3	A	G	13: 21,580,616 (GRCm39)	V24A	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
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
R2328:Zc3h6	UTSW	2	128,835,122 (GRCm39)	missense	possibly damaging	0.85
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'- GACGTATATCAGGAAGTTACATGAC -3'
(R):5'- TTTAGGCTCAAGGTCTACACGG -3'

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

Posted On

2014-07-14