Mutagenetix > Incidental Mutation

Incidental Mutation 'R6397:Zc3h7b'

516044

Institutional Source

Beutler Lab

Gene Symbol

Zc3h7b

Ensembl Gene

ENSMUSG00000022390

Gene Name

zinc finger CCCH type containing 7B

Synonyms

Scrg3

MMRRC Submission

044545-MU

Accession Numbers

Essential gene?

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

Stock #

R6397 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81629299-81680470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81677055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 821 (I821F)

Ref Sequence

ENSEMBL: ENSMUSP00000105181 (fasta)

Gene Model

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

AlphaFold

F8VPP8

Predicted Effect

probably benign
Transcript: ENSMUST00000109554
AA Change: I821F

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: I821F

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

0.0591

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

94% (29/31)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	G	T	10: 18,483,413 (GRCm39)	S1437*	probably null	Het
Cdh1	T	C	8: 107,330,922 (GRCm39)	S18P	possibly damaging	Het
Dipk1a	T	A	5: 108,059,504 (GRCm39)	K105*	probably null	Het
Dmbt1	T	C	7: 130,705,308 (GRCm39)	V1137A	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Gm3486	G	A	14: 41,208,343 (GRCm39)	L123F	probably benign	Het
Ifi203	C	A	1: 173,754,770 (GRCm39)	V654L	probably benign	Het
Kalrn	A	G	16: 33,813,355 (GRCm39)	L787P	probably damaging	Het
Kazald1	A	G	19: 45,065,317 (GRCm39)	E66G	probably benign	Het
Map4	T	A	9: 109,856,784 (GRCm39)	D151E	possibly damaging	Het
Msrb3	G	A	10: 120,627,356 (GRCm39)	T42I	probably damaging	Het
Nfatc1	C	T	18: 80,679,156 (GRCm39)	C744Y	probably damaging	Het
Nlgn1	T	A	3: 25,487,827 (GRCm39)	H836L	possibly damaging	Het
Nrxn2	A	G	19: 6,582,152 (GRCm39)	N653D	probably damaging	Het
Oprk1	A	G	1: 5,668,971 (GRCm39)	Y139C	probably damaging	Het
Or2ab1	A	G	11: 58,488,338 (GRCm39)	T39A	probably benign	Het
Pcdhb5	T	A	18: 37,454,558 (GRCm39)	S313T	probably benign	Het
Pcdhb8	C	T	18: 37,488,516 (GRCm39)	R65*	probably null	Het
Phf8-ps	T	C	17: 33,285,219 (GRCm39)	N528D	probably benign	Het
Pstpip2	T	G	18: 77,961,079 (GRCm39)	C221G	probably benign	Het
Sall2	T	A	14: 52,552,610 (GRCm39)	H195L	probably damaging	Het
Snx7	A	G	3: 117,640,272 (GRCm39)	I79T	probably benign	Het
Sptbn2	A	T	19: 4,792,446 (GRCm39)	E1367V	possibly damaging	Het
Stau1	A	G	2: 166,792,927 (GRCm39)	V346A	possibly damaging	Het
Tchh	A	G	3: 93,353,173 (GRCm39)	E871G	unknown	Het
Tlr9	A	G	9: 106,102,305 (GRCm39)	N532S	probably damaging	Het
Tuba1c	G	A	15: 98,935,738 (GRCm39)	A400T	probably benign	Het
Vmn2r86	A	T	10: 130,282,131 (GRCm39)	Y828*	probably null	Het
Vps45	A	G	3: 95,950,164 (GRCm39)	I255T	probably benign	Het
Yap1	T	C	9: 8,001,467 (GRCm39)	Y173C	probably damaging	Het
Zftraf1	A	T	15: 76,532,391 (GRCm39)	I239N	probably damaging	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
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
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'- AGCAGAGCTTAAGGTTTCTGTG -3'
(R):5'- TGAATGTGCTGCTGCCACTG -3'

Sequencing Primer
(F):5'- AAGGTTTCTGTGCCCCTCGAG -3'
(R):5'- AGCAGTGGTAGCCCATCTG -3'

Posted On

2018-05-04