Mutagenetix > Incidental Mutation

Incidental Mutation 'R4999:Zc3h7b'

389767

Institutional Source

Beutler Lab

Gene Symbol

Zc3h7b

Ensembl Gene

ENSMUSG00000022390

Gene Name

zinc finger CCCH type containing 7B

Synonyms

Scrg3

MMRRC Submission

042593-MU

Accession Numbers

Essential gene?

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

Stock #

R4999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81629299-81680470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81663334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 442 (Y442C)

Ref Sequence

ENSEMBL: ENSMUSP00000105181 (fasta)

Gene Model

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

AlphaFold

F8VPP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000109554
AA Change: Y442C

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

SMART Domains

Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: Y442C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231108

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	G	1: 16,139,022 (GRCm39)		probably null	Het
Abca4	T	A	3: 121,899,019 (GRCm39)	V667D	probably damaging	Het
Aco1	A	G	4: 40,176,507 (GRCm39)	I224V	probably damaging	Het
Arel1	C	T	12: 84,978,541 (GRCm39)	V364M	probably damaging	Het
Arhgap42	A	G	9: 9,009,435 (GRCm39)	V484A	probably damaging	Het
Asap2	T	C	12: 21,302,766 (GRCm39)	F681L	probably benign	Het
Atrn	C	A	2: 130,817,874 (GRCm39)	D809E	probably damaging	Het
Ccdc70	G	A	8: 22,463,266 (GRCm39)	V19M	possibly damaging	Het
Ccp110	G	T	7: 118,329,235 (GRCm39)	E73*	probably null	Het
Cfap57	A	C	4: 118,453,045 (GRCm39)	S553A	probably benign	Het
Cftr	A	G	6: 18,221,613 (GRCm39)	K212E	probably benign	Het
Chkb	A	T	15: 89,312,368 (GRCm39)	Y216N	probably damaging	Het
Cntnap2	G	T	6: 45,897,768 (GRCm39)	D149Y	probably damaging	Het
Cpd	A	G	11: 76,737,048 (GRCm39)		probably null	Het
Creb3l1	C	T	2: 91,813,571 (GRCm39)	D489N	probably benign	Het
Crhbp	A	G	13: 95,578,753 (GRCm39)	F123L	probably damaging	Het
Cryab	T	C	9: 50,665,909 (GRCm39)	V100A	possibly damaging	Het
Csmd2	T	C	4: 128,415,723 (GRCm39)	I2684T	probably benign	Het
Ctbp2	G	T	7: 132,616,378 (GRCm39)	P186T	possibly damaging	Het
Ctnna2	T	C	6: 76,892,745 (GRCm39)	N814S	possibly damaging	Het
Dntt	T	C	19: 41,028,295 (GRCm39)	V197A	probably damaging	Het
Fam135a	G	A	1: 24,059,758 (GRCm39)	A1187V	possibly damaging	Het
Filip1l	A	T	16: 57,390,778 (GRCm39)	Q455H	probably benign	Het
Grm2	T	C	9: 106,531,189 (GRCm39)	E100G	probably damaging	Het
Gtf2ird2	G	A	5: 134,246,306 (GRCm39)	V855M	probably damaging	Het
Heatr9	A	T	11: 83,409,618 (GRCm39)	I118N	possibly damaging	Het
Htra3	T	C	5: 35,828,469 (GRCm39)	H137R	probably benign	Het
Iars1	A	G	13: 49,863,137 (GRCm39)	S530G	probably damaging	Het
Klhdc4	T	A	8: 122,523,342 (GRCm39)	M510L	probably benign	Het
Lipc	T	C	9: 70,724,013 (GRCm39)	T204A	probably benign	Het
Lrp1	A	G	10: 127,389,648 (GRCm39)	V3129A	probably damaging	Het
Macf1	G	A	4: 123,388,702 (GRCm39)	T1120I	probably benign	Het
Maco1	A	G	4: 134,555,444 (GRCm39)	I343T	probably benign	Het
Map4	T	C	9: 109,867,445 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,260,087 (GRCm39)	V420D	probably damaging	Het
Mta2	G	T	19: 8,927,747 (GRCm39)	D523Y	probably benign	Het
Mtcl2	C	T	2: 156,864,776 (GRCm39)	G1144D	probably benign	Het
Muc4	A	G	16: 32,576,670 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,855,902 (GRCm39)	Q965*	probably null	Het
Myo1e	T	A	9: 70,260,594 (GRCm39)	I584N	probably damaging	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Nop56	G	T	2: 130,117,645 (GRCm39)	V91L	probably benign	Het
Or5b99	A	T	19: 12,976,583 (GRCm39)	M78L	probably benign	Het
Or5h23	A	T	16: 58,906,765 (GRCm39)	L27Q	probably damaging	Het
Or6f2	T	C	7: 139,756,933 (GRCm39)	V300A	probably damaging	Het
Osbpl3	T	C	6: 50,313,277 (GRCm39)	E107G	probably damaging	Het
Pde3a	T	A	6: 141,195,751 (GRCm39)	C146S	probably benign	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Pkd1l2	C	T	8: 117,774,113 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,612,021 (GRCm39)	I374T	possibly damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Prom1	T	G	5: 44,194,876 (GRCm39)	I290L	probably benign	Het
Rufy3	T	A	5: 88,785,085 (GRCm39)	M387K	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	T	A	5: 12,558,054 (GRCm39)		probably null	Het
Sema6c	C	T	3: 95,075,674 (GRCm39)	T175I	probably damaging	Het
Serpina3k	T	C	12: 104,307,305 (GRCm39)	I179T	probably damaging	Het
Sf3b3	T	C	8: 111,567,835 (GRCm39)	T207A	probably benign	Het
Slc22a26	C	A	19: 7,779,546 (GRCm39)	R90L	probably damaging	Het
Slitrk5	T	C	14: 111,917,648 (GRCm39)	V424A	probably damaging	Het
Smarca2	G	T	19: 26,698,255 (GRCm39)	E89*	probably null	Het
Stab2	T	A	10: 86,773,773 (GRCm39)	S853C	probably damaging	Het
Stk17b	A	T	1: 53,800,306 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,847,445 (GRCm39)	I281N	possibly damaging	Het
Tars3	A	T	7: 65,308,683 (GRCm39)	E284D	probably damaging	Het
Tbx15	C	A	3: 99,223,649 (GRCm39)	T279K	probably damaging	Het
Tfr2	G	A	5: 137,585,187 (GRCm39)	V740I	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tmem145	A	G	7: 25,008,459 (GRCm39)	T302A	probably benign	Het
Trappc14	T	A	5: 138,259,884 (GRCm39)	T391S	probably damaging	Het
Trpa1	G	T	1: 14,946,085 (GRCm39)	H1015Q	probably benign	Het
Tspan8	A	G	10: 115,653,534 (GRCm39)	Y10C	possibly damaging	Het
Ttll7	A	G	3: 146,600,224 (GRCm39)	N44S	probably damaging	Het
Uba7	T	C	9: 107,857,038 (GRCm39)		probably null	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr5	C	A	15: 38,009,912 (GRCm39)	A1022S	probably benign	Het
Usf1	T	G	1: 171,243,331 (GRCm39)	I36S	probably damaging	Het
Vmn1r181	A	T	7: 23,683,790 (GRCm39)	D85V	probably damaging	Het
Vmn1r3	A	T	4: 3,185,009 (GRCm39)	Y99*	probably null	Het
Vmn1r72	T	C	7: 11,404,300 (GRCm39)	I49M	possibly damaging	Het
Vmn2r99	A	G	17: 19,582,397 (GRCm39)	M1V	probably null	Het
Vsig10	T	A	5: 117,482,040 (GRCm39)	V410E	probably damaging	Het
Zfyve26	G	T	12: 79,327,159 (GRCm39)	Y730*	probably null	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
R5086:Zc3h7b	UTSW	15	81,677,375 (GRCm39)	missense	probably damaging	0.96
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'- GACTGTTAGGGAAGTCACGTGG -3'
(R):5'- CTATGGTCACTGCAGTAGGTC -3'

Sequencing Primer
(F):5'- GTCACGTGGTGGGAACG -3'
(R):5'- CACTGCAGTAGGTCTGGGAG -3'

Posted On

2016-06-06