Mutagenetix > Incidental Mutation

Incidental Mutation 'R5587:Zc3h7b'

438843

Institutional Source

Beutler Lab

Gene Symbol

Zc3h7b

Ensembl Gene

ENSMUSG00000022390

Gene Name

zinc finger CCCH type containing 7B

Synonyms

Scrg3

MMRRC Submission

043141-MU

Accession Numbers

Essential gene?

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

Stock #

R5587 (G1)

Quality Score

153

Status

Not validated

Chromosome

Chromosomal Location

81629299-81680470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81656059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 136 (Y136H)

Ref Sequence

ENSEMBL: ENSMUSP00000105181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109554] [ENSMUST00000230946]

AlphaFold

F8VPP8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109554
AA Change: Y136H

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: Y136H

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

probably benign
Transcript: ENSMUST00000230946
AA Change: Y131H

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231108

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

96% (78/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,170 (GRCm39)	R120G	probably benign	Het
Acad11	A	G	9: 103,940,966 (GRCm39)	T3A	probably benign	Het
Adamts18	G	A	8: 114,501,992 (GRCm39)	Q290*	probably null	Het
Ahnak	A	G	19: 8,986,840 (GRCm39)	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,658,304 (GRCm39)	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,672,281 (GRCm39)	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,178,982 (GRCm39)	W615C	probably damaging	Het
Bcl3	A	T	7: 19,543,559 (GRCm39)	Y10*	probably null	Het
Bmp2	T	A	2: 133,396,566 (GRCm39)	V74E	possibly damaging	Het
Ccdc121	G	T	5: 31,643,428 (GRCm39)	G53W	probably benign	Het
Ccdc78	C	A	17: 26,005,651 (GRCm39)	P21Q	probably benign	Het
Cluap1	T	A	16: 3,733,348 (GRCm39)	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,894,552 (GRCm39)	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531 (GRCm39)	W1330R	unknown	Het
Coq4	A	G	2: 29,685,526 (GRCm39)		probably null	Het
Cwf19l1	G	A	19: 44,109,316 (GRCm39)	T346I	possibly damaging	Het
Cyct	T	C	2: 76,184,547 (GRCm39)	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,870,977 (GRCm39)	L2368P	probably benign	Het
Dnah2	A	T	11: 69,328,068 (GRCm39)	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,968,295 (GRCm39)	V259E	probably damaging	Het
Dpyd	A	C	3: 118,858,600 (GRCm39)	S605R	probably damaging	Het
Emc1	A	G	4: 139,089,459 (GRCm39)	E209G	probably damaging	Het
Esrra	A	G	19: 6,897,575 (GRCm39)	S61P	probably benign	Het
Garin2	C	A	12: 78,761,849 (GRCm39)	P171H	probably damaging	Het
Gbx2	T	A	1: 89,860,844 (GRCm39)		probably benign	Het
Hepacam	A	G	9: 37,295,980 (GRCm39)	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,741,534 (GRCm39)	Y107C	probably damaging	Het
Intu	A	G	3: 40,629,738 (GRCm39)	D356G	probably damaging	Het
Izumo4	A	T	10: 80,539,054 (GRCm39)	N113Y	probably damaging	Het
Krt86	G	A	15: 101,371,474 (GRCm39)	A15T	probably benign	Het
Lhx8	A	T	3: 154,017,316 (GRCm39)	S275R	probably damaging	Het
Lingo3	A	T	10: 80,671,364 (GRCm39)	S189T	probably damaging	Het
Llgl1	T	A	11: 60,601,168 (GRCm39)	M702K	probably benign	Het
Lpin1	T	C	12: 16,623,715 (GRCm39)	Y223C		Het
Lrit3	G	T	3: 129,582,547 (GRCm39)	A359E	probably benign	Het
Lrp2	T	C	2: 69,329,607 (GRCm39)	E1720G	probably benign	Het
Mcub	A	C	3: 129,710,619 (GRCm39)	V271G	probably benign	Het
Nktr	C	T	9: 121,577,555 (GRCm39)		probably benign	Het
Or10g9	A	T	9: 39,911,917 (GRCm39)	I202N	possibly damaging	Het
Or13p4	T	A	4: 118,547,067 (GRCm39)	D194V	probably damaging	Het
Or1j18	A	T	2: 36,624,633 (GRCm39)	Q100L	probably damaging	Het
Or4d5	A	T	9: 40,012,540 (GRCm39)	L82Q	probably damaging	Het
Or52z12	T	A	7: 103,233,738 (GRCm39)	Y170N	probably benign	Het
Or9i1	G	A	19: 13,839,940 (GRCm39)	R261H	probably damaging	Het
Pcdha4	T	C	18: 37,087,875 (GRCm39)	V686A	probably benign	Het
Pelo	A	G	13: 115,226,409 (GRCm39)	V16A	possibly damaging	Het
Plcd1	A	G	9: 118,902,900 (GRCm39)	S539P	probably benign	Het
Prss1	A	G	6: 41,440,199 (GRCm39)	I179V	possibly damaging	Het
Ptgs2	T	C	1: 149,981,306 (GRCm39)	Y530H	probably damaging	Het
Rai1	T	C	11: 60,080,685 (GRCm39)	V1583A	probably damaging	Het
Raph1	T	G	1: 60,537,632 (GRCm39)	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,371,603 (GRCm39)		probably benign	Het
Rsf1	T	C	7: 97,311,328 (GRCm39)	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291 (GRCm39)	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,103,425 (GRCm39)	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,352,151 (GRCm39)	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,244,863 (GRCm39)		probably null	Het
Sis	A	G	3: 72,821,909 (GRCm39)	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,850,432 (GRCm39)	C565W	probably damaging	Het
Srbd1	T	A	17: 86,435,229 (GRCm39)	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625 (GRCm39)	H345R	unknown	Het
Suox	A	T	10: 128,507,694 (GRCm39)	D111E	probably damaging	Het
Taar7a	A	T	10: 23,868,726 (GRCm39)	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,592,492 (GRCm39)	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,417,765 (GRCm39)	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,344,850 (GRCm39)	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,412,966 (GRCm39)	H80L	probably benign	Het
Tnrc6c	C	T	11: 117,640,097 (GRCm39)	Q1211*	probably null	Het
Tns1	T	A	1: 73,959,755 (GRCm39)	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,311,455 (GRCm39)		probably benign	Het
Tshz2	A	T	2: 169,726,262 (GRCm39)	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,566,485 (GRCm39)	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,702,433 (GRCm39)	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vmn2r61	T	C	7: 41,949,911 (GRCm39)	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,995,427 (GRCm39)	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,379,458 (GRCm39)	N521S	probably damaging	Het
Zan	C	G	5: 137,390,024 (GRCm39)	S4816T	unknown	Het
Zfp101	T	C	17: 33,600,295 (GRCm39)	K487R	possibly 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
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'- AGTGAGGTTGCTTTCCATCCC -3'
(R):5'- AGGTCTCTTTACATCGCCCTGG -3'

Sequencing Primer
(F):5'- TTTCCATCCCAGGGGTCACAG -3'
(R):5'- TGTCAGCACCGCATCAGGATC -3'

Posted On

2016-10-26