Mutagenetix > Incidental Mutation

Incidental Mutation 'R5086:Zc3h7b'

387470

Institutional Source

Beutler Lab

Gene Symbol

Zc3h7b

Ensembl Gene

ENSMUSG00000022390

Gene Name

zinc finger CCCH type containing 7B

Synonyms

Scrg3

MMRRC Submission

042675-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R5086 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

81629299-81680470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81677375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 892 (L892P)

Ref Sequence

ENSEMBL: ENSMUSP00000105181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109554]

AlphaFold

F8VPP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000109554
AA Change: L892P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: L892P

Domain	Start	End	E-Value	Type
Pfam:TPR_11	34	113	2.3e-12	PFAM
Pfam:TPR_1	82	115	2.4e-6	PFAM
Pfam:TPR_8	82	115	8.2e-4	PFAM
Pfam:TPR_8	116	143	4.8e-3	PFAM
low complexity region	294	309	N/A	INTRINSIC
low complexity region	340	354	N/A	INTRINSIC
ZnF_C3H1	482	508	2.15e1	SMART
ZnF_C3H1	612	638	2.03e1	SMART
ZnF_C3H1	757	782	8.31e0	SMART
ZnF_C2H2	843	867	2.86e-1	SMART
ZnF_C3H1	889	914	7.81e-1	SMART
low complexity region	959	981	N/A	INTRINSIC

Meta Mutation Damage Score

0.8221

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.3%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(9) : Gene trapped(9)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adsl	T	A	15: 80,847,901 (GRCm39)	M278K	probably damaging	Het
Ago1	T	C	4: 126,347,397 (GRCm39)	I147V	probably benign	Het
Ank1	T	C	8: 23,578,634 (GRCm39)	L261P	probably damaging	Het
Ank2	T	C	3: 126,740,997 (GRCm39)		probably benign	Het
Ap1b1	T	C	11: 4,968,020 (GRCm39)	V177A	possibly damaging	Het
Arhgap21	A	G	2: 20,853,645 (GRCm39)	S1906P	probably benign	Het
Asb1	A	G	1: 91,482,533 (GRCm39)	Y214C	probably benign	Het
BC049715	C	T	6: 136,817,429 (GRCm39)	T223M	probably damaging	Het
C1ra	T	A	6: 124,496,688 (GRCm39)	C375S	probably damaging	Het
Cdh26	C	T	2: 178,083,210 (GRCm39)	R26*	probably null	Het
Chordc1	A	G	9: 18,224,131 (GRCm39)	M304V	probably benign	Het
Cpne8	T	C	15: 90,532,771 (GRCm39)		probably benign	Het
Cracd	A	G	5: 77,004,971 (GRCm39)	E444G	unknown	Het
Csf1	T	C	3: 107,656,026 (GRCm39)	E335G	possibly damaging	Het
Ctnnd2	C	T	15: 30,683,493 (GRCm39)	P498L	possibly damaging	Het
Cyp4f18	C	T	8: 72,756,276 (GRCm39)	R100H	probably benign	Het
Dnaaf2	G	A	12: 69,244,060 (GRCm39)	R334C	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,529,189 (GRCm39)	S1071P	possibly damaging	Het
Dtnb	T	C	12: 3,682,942 (GRCm39)	V7A	probably benign	Het
Eif1	T	C	11: 100,211,552 (GRCm39)	I62T	probably damaging	Het
Fbxo44	T	A	4: 148,240,669 (GRCm39)	T145S	probably benign	Het
G530012D18Rik	G	C	1: 85,504,941 (GRCm39)		probably benign	Het
Gabbr2	A	T	4: 46,724,342 (GRCm39)	M17K	probably damaging	Het
Gm5860	T	A	4: 81,984,173 (GRCm39)		noncoding transcript	Het
Gm7964	T	A	7: 83,406,560 (GRCm39)	F439Y	possibly damaging	Het
Gpbp1l1	C	A	4: 116,445,789 (GRCm39)	T297N	probably benign	Het
Greb1	C	T	12: 16,758,023 (GRCm39)		probably benign	Het
Gvin3	A	T	7: 106,197,234 (GRCm39)		noncoding transcript	Het
Hkdc1	T	C	10: 62,231,053 (GRCm39)		probably benign	Het
Ighv16-1	T	A	12: 114,032,510 (GRCm39)	L97F	probably benign	Het
Il21r	A	G	7: 125,232,027 (GRCm39)	D485G	probably damaging	Het
Inpp5d	A	G	1: 87,633,686 (GRCm39)	H441R	probably damaging	Het
Iqgap2	G	T	13: 95,772,088 (GRCm39)	R1364S	probably benign	Het
Krtap20-2	G	T	16: 89,002,806 (GRCm39)	C2F	unknown	Het
Man2c1	T	A	9: 57,038,924 (GRCm39)	D111E	probably damaging	Het
Map1a	G	A	2: 121,134,985 (GRCm39)	E1696K	probably damaging	Het
Mdc1	T	A	17: 36,159,522 (GRCm39)	V634E	probably benign	Het
Mgam2-ps	A	G	6: 40,800,547 (GRCm39)		noncoding transcript	Het
Mllt3	T	A	4: 87,707,535 (GRCm39)	N68Y	probably damaging	Het
Mrps18a	T	A	17: 46,436,621 (GRCm39)	D143E	probably benign	Het
Myl12a	T	C	17: 71,301,611 (GRCm39)	D172G	possibly damaging	Het
Notch3	T	C	17: 32,362,308 (GRCm39)	N1439S	probably benign	Het
Npepps	T	C	11: 97,108,625 (GRCm39)	M764V	probably benign	Het
Or8d2b	T	C	9: 38,789,087 (GRCm39)	L205P	probably damaging	Het
Paxbp1	A	T	16: 90,812,104 (GRCm39)		probably benign	Het
Pcdhb7	A	T	18: 37,476,162 (GRCm39)	T433S	possibly damaging	Het
Pcdhb8	A	T	18: 37,489,159 (GRCm39)	Y279F	probably damaging	Het
Pim3	T	C	15: 88,748,606 (GRCm39)	L235P	probably damaging	Het
Plekha4	C	T	7: 45,203,082 (GRCm39)	S685F	possibly damaging	Het
Plekhg1	C	A	10: 3,853,649 (GRCm39)	H167Q	probably damaging	Het
Plekhn1	G	C	4: 156,306,881 (GRCm39)	P503A	probably benign	Het
Sar1a	T	C	10: 61,527,125 (GRCm39)	L181P	probably damaging	Het
Sec22a	G	T	16: 35,168,112 (GRCm39)	S133*	probably null	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Slc31a1	T	C	4: 62,306,190 (GRCm39)	S103P	probably damaging	Het
Spag6	A	C	2: 18,747,688 (GRCm39)		probably benign	Het
Stab1	T	A	14: 30,865,581 (GRCm39)	D1769V	probably damaging	Het
Stab1	G	A	14: 30,881,261 (GRCm39)	L590F	probably damaging	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Tbc1d2b	A	G	9: 90,109,510 (GRCm39)	L322P	probably benign	Het
Tdrp	T	C	8: 14,024,590 (GRCm39)	E18G	possibly damaging	Het
Tlr3	T	A	8: 45,855,862 (GRCm39)	N106I	probably damaging	Het
Tmem104	T	A	11: 115,092,227 (GRCm39)	I112N	probably damaging	Het
Tmem14c	C	T	13: 41,174,598 (GRCm39)	T69I	probably benign	Het
Tmprss11g	G	A	5: 86,644,377 (GRCm39)	P156S	possibly damaging	Het
Ttn	A	T	2: 76,700,947 (GRCm39)		probably benign	Het
Vmn1r45	A	T	6: 89,910,082 (GRCm39)	I296N	probably benign	Het
Vmn2r1	T	A	3: 63,997,418 (GRCm39)	V358D	probably benign	Het
Zfp366	A	G	13: 99,365,451 (GRCm39)	Q204R	probably benign	Het
Zfp598	C	A	17: 24,899,872 (GRCm39)		probably benign	Het

Other mutations in Zc3h7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Zc3h7b	APN	15	81,656,000 (GRCm39)	missense	possibly damaging	0.95
IGL01955:Zc3h7b	APN	15	81,676,205 (GRCm39)	missense	probably benign	0.10
IGL02526:Zc3h7b	APN	15	81,677,338 (GRCm39)	missense	probably benign	0.10
IGL02582:Zc3h7b	APN	15	81,653,341 (GRCm39)	missense	probably benign	0.05
IGL02736:Zc3h7b	APN	15	81,676,175 (GRCm39)	missense	probably benign	0.02
F6893:Zc3h7b	UTSW	15	81,662,872 (GRCm39)	missense	possibly damaging	0.94
R0212:Zc3h7b	UTSW	15	81,660,529 (GRCm39)	missense	probably benign	0.00
R0242:Zc3h7b	UTSW	15	81,653,031 (GRCm39)	splice site	probably benign
R0471:Zc3h7b	UTSW	15	81,666,169 (GRCm39)	missense	probably damaging	1.00
R0590:Zc3h7b	UTSW	15	81,661,199 (GRCm39)	missense	possibly damaging	0.74
R1530:Zc3h7b	UTSW	15	81,661,289 (GRCm39)	missense	probably benign
R1563:Zc3h7b	UTSW	15	81,661,289 (GRCm39)	missense	probably benign
R1565:Zc3h7b	UTSW	15	81,661,289 (GRCm39)	missense	probably benign
R1566:Zc3h7b	UTSW	15	81,653,035 (GRCm39)	missense	possibly damaging	0.91
R1670:Zc3h7b	UTSW	15	81,661,268 (GRCm39)	missense	probably benign
R1712:Zc3h7b	UTSW	15	81,661,289 (GRCm39)	missense	probably benign
R1727:Zc3h7b	UTSW	15	81,652,230 (GRCm39)	missense	probably damaging	1.00
R2069:Zc3h7b	UTSW	15	81,676,529 (GRCm39)	missense	probably damaging	0.98
R2375:Zc3h7b	UTSW	15	81,676,703 (GRCm39)	missense	probably benign	0.17
R2656:Zc3h7b	UTSW	15	81,664,631 (GRCm39)	missense	probably damaging	1.00
R4660:Zc3h7b	UTSW	15	81,676,451 (GRCm39)	missense	probably benign	0.07
R4764:Zc3h7b	UTSW	15	81,653,384 (GRCm39)	critical splice donor site	probably null
R4815:Zc3h7b	UTSW	15	81,677,864 (GRCm39)	missense	probably damaging	1.00
R4999:Zc3h7b	UTSW	15	81,663,334 (GRCm39)	missense	probably damaging	1.00
R5169:Zc3h7b	UTSW	15	81,657,515 (GRCm39)	missense	probably benign	0.01
R5395:Zc3h7b	UTSW	15	81,656,702 (GRCm39)	missense	possibly damaging	0.50
R5407:Zc3h7b	UTSW	15	81,670,092 (GRCm39)	missense	probably damaging	0.99
R5587:Zc3h7b	UTSW	15	81,656,059 (GRCm39)	missense	possibly damaging	0.80
R5721:Zc3h7b	UTSW	15	81,657,499 (GRCm39)	missense	probably benign	0.02
R6001:Zc3h7b	UTSW	15	81,676,236 (GRCm39)	missense	possibly damaging	0.89
R6151:Zc3h7b	UTSW	15	81,662,911 (GRCm39)	critical splice donor site	probably null
R6248:Zc3h7b	UTSW	15	81,667,386 (GRCm39)	missense	probably damaging	1.00
R6397:Zc3h7b	UTSW	15	81,677,055 (GRCm39)	missense	probably benign	0.03
R6502:Zc3h7b	UTSW	15	81,653,252 (GRCm39)	missense	probably benign	0.01
R7248:Zc3h7b	UTSW	15	81,655,988 (GRCm39)	missense	possibly damaging	0.46
R7397:Zc3h7b	UTSW	15	81,653,354 (GRCm39)	missense	possibly damaging	0.50
R7450:Zc3h7b	UTSW	15	81,667,281 (GRCm39)	missense	probably benign
R7471:Zc3h7b	UTSW	15	81,664,682 (GRCm39)	missense	probably damaging	1.00
R7575:Zc3h7b	UTSW	15	81,662,086 (GRCm39)	nonsense	probably null
R7645:Zc3h7b	UTSW	15	81,664,803 (GRCm39)	missense	probably damaging	1.00
R7650:Zc3h7b	UTSW	15	81,677,851 (GRCm39)	missense	possibly damaging	0.81
R7881:Zc3h7b	UTSW	15	81,664,679 (GRCm39)	missense	probably damaging	1.00
R7918:Zc3h7b	UTSW	15	81,653,189 (GRCm39)	missense	probably damaging	0.98
R8001:Zc3h7b	UTSW	15	81,663,461 (GRCm39)	nonsense	probably null
R8504:Zc3h7b	UTSW	15	81,664,719 (GRCm39)	missense	probably damaging	1.00
R8855:Zc3h7b	UTSW	15	81,656,681 (GRCm39)	missense	probably benign	0.01
R8856:Zc3h7b	UTSW	15	81,656,681 (GRCm39)	missense	probably benign	0.01
R8857:Zc3h7b	UTSW	15	81,656,681 (GRCm39)	missense	probably benign	0.01
R8865:Zc3h7b	UTSW	15	81,656,681 (GRCm39)	missense	probably benign	0.01
R8866:Zc3h7b	UTSW	15	81,656,681 (GRCm39)	missense	probably benign	0.01
R8867:Zc3h7b	UTSW	15	81,656,681 (GRCm39)	missense	probably benign	0.01
R8868:Zc3h7b	UTSW	15	81,656,681 (GRCm39)	missense	probably benign	0.01
R9071:Zc3h7b	UTSW	15	81,677,964 (GRCm39)	makesense	probably null
R9136:Zc3h7b	UTSW	15	81,653,312 (GRCm39)	missense	probably damaging	1.00
R9169:Zc3h7b	UTSW	15	81,661,184 (GRCm39)	missense	probably benign	0.19
R9701:Zc3h7b	UTSW	15	81,676,505 (GRCm39)	missense	probably damaging	1.00
R9802:Zc3h7b	UTSW	15	81,676,505 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCATGGTAAGCCCTGCC -3'
(R):5'- TCTAGGATCTGACCCAGTGCTG -3'

Sequencing Primer
(F):5'- TCCTGGAGGGGCTGAGAG -3'
(R):5'- ATCTGACCCAGTGCTGTGGAG -3'

Posted On

2016-06-06