Mutagenetix > Incidental Mutation

Incidental Mutation 'R7650:Zc3h7b'

590789

Institutional Source

Beutler Lab

Gene Symbol

Zc3h7b

Ensembl Gene

ENSMUSG00000022390

Gene Name

zinc finger CCCH type containing 7B

Synonyms

Scrg3

MMRRC Submission

045727-MU

Accession Numbers

Genbank: NM_001081016; MGI: 1328310

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R7650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81745057-81796260 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81793650 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 945 (D945G)

Ref Sequence

ENSEMBL: ENSMUSP00000105181 (fasta)

Gene Model

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

AlphaFold

F8VPP8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109554
AA Change: D945G

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: D945G

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

0.2113

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	G	A	7: 30,699,789 (GRCm38)	V3I	probably benign	Het
Adam33	T	C	2: 131,061,147 (GRCm38)	E59G	probably damaging	Het
Akap13	T	A	7: 75,643,454 (GRCm38)	V45E	probably benign	Het
Ap1s1	A	G	5: 137,045,533 (GRCm38)	S28P	probably benign	Het
Btnl2	T	C	17: 34,358,129 (GRCm38)	L86P	probably damaging	Het
Carm1	G	A	9: 21,580,372 (GRCm38)	V246I	probably benign	Het
Cdk5rap1	C	T	2: 154,354,116 (GRCm38)	D283N	probably benign	Het
Cfap58	C	A	19: 47,986,528 (GRCm38)	N709K	possibly damaging	Het
Col24a1	A	G	3: 145,314,453 (GRCm38)	D195G	probably benign	Het
Dcaf1	A	G	9: 106,838,344 (GRCm38)	D220G	probably benign	Het
Ddias	C	T	7: 92,858,935 (GRCm38)	G591R	probably benign	Het
Defb22	A	T	2: 152,486,103 (GRCm38)	I54K	probably benign	Het
Dennd4b	G	A	3: 90,268,749 (GRCm38)	W202*	probably null	Het
F2	T	C	2: 91,628,396 (GRCm38)	N523S	possibly damaging	Het
Fam186a	A	G	15: 99,939,907 (GRCm38)	Y2819H	unknown	Het
Fanca	A	T	8: 123,268,564 (GRCm38)		probably null	Het
Fezf2	T	C	14: 12,342,653 (GRCm38)	H404R	probably damaging	Het
Fry	A	G	5: 150,413,418 (GRCm38)	N1418S	probably damaging	Het
Gak	A	G	5: 108,584,295 (GRCm38)	S776P	probably benign	Het
Gbf1	A	G	19: 46,272,539 (GRCm38)	H1181R	probably damaging	Het
Gdf9	G	A	11: 53,437,098 (GRCm38)	E294K	probably benign	Het
Gje1	G	A	10: 14,716,424 (GRCm38)	R205*	probably null	Het
Gm12569	G	A	11: 51,234,786 (GRCm38)	E179K	possibly damaging	Het
Gm8206	T	C	14: 6,055,211 (GRCm38)		probably null	Het
Gpr162	T	A	6: 124,861,843 (GRCm38)		probably benign	Het
Gxylt1	C	T	15: 93,245,658 (GRCm38)	R363H	probably benign	Het
Hnrnph1	A	T	11: 50,383,899 (GRCm38)	M396L	probably benign	Het
Ice1	T	A	13: 70,605,483 (GRCm38)	Q828L	probably damaging	Het
Ice1	A	G	13: 70,589,797 (GRCm38)	V2177A	possibly damaging	Het
Il10	A	T	1: 131,021,455 (GRCm38)	T118S	probably benign	Het
Itpr2	C	T	6: 146,233,994 (GRCm38)	R1813Q	probably benign	Het
Kbtbd12	T	A	6: 88,618,548 (GRCm38)	Q100L	probably damaging	Het
Kin	A	G	2: 10,092,168 (GRCm38)	D276G	possibly damaging	Het
Klhl1	T	C	14: 96,346,943 (GRCm38)	T284A	probably damaging	Het
Kmt2d	C	T	15: 98,850,870 (GRCm38)	A2858T	unknown	Het
Krt8	G	A	15: 102,004,163 (GRCm38)	T26M	probably benign	Het
Lama3	T	A	18: 12,537,838 (GRCm38)	M827K	probably benign	Het
Lingo3	T	C	10: 80,835,763 (GRCm38)	N111S	probably damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999 (GRCm38)		probably benign	Het
Metap1	A	G	3: 138,466,367 (GRCm38)	V263A	probably damaging	Het
Muc5ac	A	G	7: 141,809,422 (GRCm38)	T2157A	unknown	Het
Myo1d	G	T	11: 80,601,684 (GRCm38)	H748Q	probably benign	Het
Nfkbiz	A	T	16: 55,817,839 (GRCm38)	N419K	probably benign	Het
Nol10	T	C	12: 17,362,682 (GRCm38)		probably null	Het
Nrcam	T	C	12: 44,547,322 (GRCm38)	L284P	probably damaging	Het
Nrp1	T	A	8: 128,498,014 (GRCm38)	W753R	possibly damaging	Het
Obscn	A	G	11: 59,060,994 (GRCm38)	S3978P	probably benign	Het
Olfr181	T	A	16: 58,926,053 (GRCm38)	R173*	probably null	Het
Olfr968	A	T	9: 39,771,873 (GRCm38)	F309Y	probably benign	Het
Opa3	C	A	7: 19,244,971 (GRCm38)	N120K	probably benign	Het
Pabpc1l	T	C	2: 164,049,590 (GRCm38)	L576S	probably benign	Het
Panx3	A	G	9: 37,661,405 (GRCm38)	L283S	probably damaging	Het
Pcdhb4	T	A	18: 37,309,614 (GRCm38)	V659E	probably damaging	Het
Pde4dip	A	T	3: 97,699,107 (GRCm38)		probably null	Het
Pkd1l3	T	C	8: 109,672,585 (GRCm38)	V2200A	probably benign	Het
Pkp3	G	A	7: 141,082,370 (GRCm38)	M112I	probably benign	Het
Prex2	T	C	1: 11,149,854 (GRCm38)	I683T	possibly damaging	Het
Psg22	C	A	7: 18,726,759 (GRCm38)	Q438K	possibly damaging	Het
Ptgir	T	C	7: 16,906,951 (GRCm38)	V56A	possibly damaging	Het
Pus7	G	T	5: 23,760,246 (GRCm38)	T304K	probably damaging	Het
Rab38	T	C	7: 88,430,429 (GRCm38)	Y10H	possibly damaging	Het
Ros1	C	T	10: 52,046,209 (GRCm38)	G2277D	probably benign	Het
Rpain	A	T	11: 70,970,445 (GRCm38)		probably benign	Het
Shh	C	A	5: 28,458,306 (GRCm38)	S288I	probably benign	Het
Slc26a5	C	T	5: 21,834,330 (GRCm38)	V259M	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Slit1	T	A	19: 41,629,924 (GRCm38)	N771I	probably damaging	Het
Stim1	T	A	7: 102,428,827 (GRCm38)	S179T		Het
Syk	A	G	13: 52,611,095 (GRCm38)	D86G	probably benign	Het
Tmem132b	T	G	5: 125,787,010 (GRCm38)	S727A	probably benign	Het
Trim42	T	A	9: 97,363,148 (GRCm38)	Y533F	probably benign	Het
Trpm6	A	T	19: 18,876,013 (GRCm38)	D1799V	possibly damaging	Het
Ttc26	T	A	6: 38,395,040 (GRCm38)	N188K	probably benign	Het
Ube4a	A	T	9: 44,933,436 (GRCm38)	I839N	probably damaging	Het
Ugt2b36	A	G	5: 87,080,972 (GRCm38)	I404T	probably damaging	Het
Ushbp1	T	A	8: 71,390,924 (GRCm38)	Q290L	possibly damaging	Het
Vcl	T	A	14: 20,995,046 (GRCm38)	I273K	probably damaging	Het
Vmn2r73	T	A	7: 85,871,939 (GRCm38)	I274L	probably benign	Het
Zfp454	A	G	11: 50,883,753 (GRCm38)	L31P	probably damaging	Het
Zfp536	C	A	7: 37,569,692 (GRCm38)	V100L	probably damaging	Het
Zfp942	A	T	17: 21,928,837 (GRCm38)	S270R	probably benign	Het

Other mutations in Zc3h7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Zc3h7b	APN	15	81,771,799 (GRCm38)	missense	possibly damaging	0.95
IGL01955:Zc3h7b	APN	15	81,792,004 (GRCm38)	missense	probably benign	0.10
IGL02526:Zc3h7b	APN	15	81,793,137 (GRCm38)	missense	probably benign	0.10
IGL02582:Zc3h7b	APN	15	81,769,140 (GRCm38)	missense	probably benign	0.05
IGL02736:Zc3h7b	APN	15	81,791,974 (GRCm38)	missense	probably benign	0.02
F6893:Zc3h7b	UTSW	15	81,778,671 (GRCm38)	missense	possibly damaging	0.94
R0212:Zc3h7b	UTSW	15	81,776,328 (GRCm38)	missense	probably benign	0.00
R0242:Zc3h7b	UTSW	15	81,768,830 (GRCm38)	splice site	probably benign
R0471:Zc3h7b	UTSW	15	81,781,968 (GRCm38)	missense	probably damaging	1.00
R0590:Zc3h7b	UTSW	15	81,776,998 (GRCm38)	missense	possibly damaging	0.74
R1530:Zc3h7b	UTSW	15	81,777,088 (GRCm38)	missense	probably benign
R1563:Zc3h7b	UTSW	15	81,777,088 (GRCm38)	missense	probably benign
R1565:Zc3h7b	UTSW	15	81,777,088 (GRCm38)	missense	probably benign
R1566:Zc3h7b	UTSW	15	81,768,834 (GRCm38)	missense	possibly damaging	0.91
R1670:Zc3h7b	UTSW	15	81,777,067 (GRCm38)	missense	probably benign
R1712:Zc3h7b	UTSW	15	81,777,088 (GRCm38)	missense	probably benign
R1727:Zc3h7b	UTSW	15	81,768,029 (GRCm38)	missense	probably damaging	1.00
R2069:Zc3h7b	UTSW	15	81,792,328 (GRCm38)	missense	probably damaging	0.98
R2375:Zc3h7b	UTSW	15	81,792,502 (GRCm38)	missense	probably benign	0.17
R2656:Zc3h7b	UTSW	15	81,780,430 (GRCm38)	missense	probably damaging	1.00
R4660:Zc3h7b	UTSW	15	81,792,250 (GRCm38)	missense	probably benign	0.07
R4764:Zc3h7b	UTSW	15	81,769,183 (GRCm38)	critical splice donor site	probably null
R4815:Zc3h7b	UTSW	15	81,793,663 (GRCm38)	missense	probably damaging	1.00
R4999:Zc3h7b	UTSW	15	81,779,133 (GRCm38)	missense	probably damaging	1.00
R5086:Zc3h7b	UTSW	15	81,793,174 (GRCm38)	missense	probably damaging	0.96
R5169:Zc3h7b	UTSW	15	81,773,314 (GRCm38)	missense	probably benign	0.01
R5395:Zc3h7b	UTSW	15	81,772,501 (GRCm38)	missense	possibly damaging	0.50
R5407:Zc3h7b	UTSW	15	81,785,891 (GRCm38)	missense	probably damaging	0.99
R5587:Zc3h7b	UTSW	15	81,771,858 (GRCm38)	missense	possibly damaging	0.80
R5721:Zc3h7b	UTSW	15	81,773,298 (GRCm38)	missense	probably benign	0.02
R6001:Zc3h7b	UTSW	15	81,792,035 (GRCm38)	missense	possibly damaging	0.89
R6151:Zc3h7b	UTSW	15	81,778,710 (GRCm38)	critical splice donor site	probably null
R6248:Zc3h7b	UTSW	15	81,783,185 (GRCm38)	missense	probably damaging	1.00
R6397:Zc3h7b	UTSW	15	81,792,854 (GRCm38)	missense	probably benign	0.03
R6502:Zc3h7b	UTSW	15	81,769,051 (GRCm38)	missense	probably benign	0.01
R7248:Zc3h7b	UTSW	15	81,771,787 (GRCm38)	missense	possibly damaging	0.46
R7397:Zc3h7b	UTSW	15	81,769,153 (GRCm38)	missense	possibly damaging	0.50
R7450:Zc3h7b	UTSW	15	81,783,080 (GRCm38)	missense	probably benign
R7471:Zc3h7b	UTSW	15	81,780,481 (GRCm38)	missense	probably damaging	1.00
R7575:Zc3h7b	UTSW	15	81,777,885 (GRCm38)	nonsense	probably null
R7645:Zc3h7b	UTSW	15	81,780,602 (GRCm38)	missense	probably damaging	1.00
R7881:Zc3h7b	UTSW	15	81,780,478 (GRCm38)	missense	probably damaging	1.00
R7918:Zc3h7b	UTSW	15	81,768,988 (GRCm38)	missense	probably damaging	0.98
R8001:Zc3h7b	UTSW	15	81,779,260 (GRCm38)	nonsense	probably null
R8504:Zc3h7b	UTSW	15	81,780,518 (GRCm38)	missense	probably damaging	1.00
R8855:Zc3h7b	UTSW	15	81,772,480 (GRCm38)	missense	probably benign	0.01
R8856:Zc3h7b	UTSW	15	81,772,480 (GRCm38)	missense	probably benign	0.01
R8857:Zc3h7b	UTSW	15	81,772,480 (GRCm38)	missense	probably benign	0.01
R8865:Zc3h7b	UTSW	15	81,772,480 (GRCm38)	missense	probably benign	0.01
R8866:Zc3h7b	UTSW	15	81,772,480 (GRCm38)	missense	probably benign	0.01
R8867:Zc3h7b	UTSW	15	81,772,480 (GRCm38)	missense	probably benign	0.01
R8868:Zc3h7b	UTSW	15	81,772,480 (GRCm38)	missense	probably benign	0.01
R9071:Zc3h7b	UTSW	15	81,793,763 (GRCm38)	makesense	probably null
R9136:Zc3h7b	UTSW	15	81,769,111 (GRCm38)	missense	probably damaging	1.00
R9169:Zc3h7b	UTSW	15	81,776,983 (GRCm38)	missense	probably benign	0.19
R9701:Zc3h7b	UTSW	15	81,792,304 (GRCm38)	missense	probably damaging	1.00
R9802:Zc3h7b	UTSW	15	81,792,304 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACTGGGTCAGATCCTAG -3'
(R):5'- ATACACACCTGGGGTACTGG -3'

Sequencing Primer
(F):5'- CAGATCCTAGAGAGTGCTACTTTGTC -3'
(R):5'- CCTGCCTGATGGGGTAGTC -3'

Posted On

2019-10-24