Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01598:Zcchc11'

91760

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zcchc11

Ensembl Gene

ENSMUSG00000034610

Gene Name

zinc finger, CCHC domain containing 11

Synonyms

6030404K05Rik, 9230115F04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01598

Quality Score

Status

Chromosome

Chromosomal Location

108459426-108559421 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 108550820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043368] [ENSMUST00000097925] [ENSMUST00000128042]

AlphaFold

B2RX14

Predicted Effect

probably benign
Transcript: ENSMUST00000043368

SMART Domains

Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610

Domain	Start	End	E-Value	Type
low complexity region	260	275	N/A	INTRINSIC
SCOP:d1f5aa2	363	569	2e-23	SMART
Pfam:PAP_assoc	648	701	1.2e-13	PFAM
low complexity region	743	758	N/A	INTRINSIC
low complexity region	815	828	N/A	INTRINSIC
ZnF_C2HC	931	947	7.79e-3	SMART
Pfam:NTP_transf_2	995	1085	4.2e-10	PFAM
Pfam:PAP_assoc	1201	1254	4.7e-19	PFAM
ZnF_C2HC	1311	1327	3.83e-3	SMART
ZnF_C2HC	1359	1375	3.44e-4	SMART
low complexity region	1398	1412	N/A	INTRINSIC
low complexity region	1418	1473	N/A	INTRINSIC
low complexity region	1628	1639	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097925

SMART Domains

Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610

Domain	Start	End	E-Value	Type
low complexity region	260	275	N/A	INTRINSIC
SCOP:d1f5aa2	363	569	2e-23	SMART
Pfam:PAP_assoc	648	701	8e-14	PFAM
low complexity region	743	758	N/A	INTRINSIC
low complexity region	815	828	N/A	INTRINSIC
ZnF_C2HC	931	947	7.79e-3	SMART
Pfam:NTP_transf_2	994	1082	6.3e-11	PFAM
Pfam:PAP_assoc	1201	1254	5.2e-19	PFAM
ZnF_C2HC	1311	1327	3.83e-3	SMART
ZnF_C2HC	1364	1380	3.44e-4	SMART
low complexity region	1403	1417	N/A	INTRINSIC
low complexity region	1423	1478	N/A	INTRINSIC
low complexity region	1632	1643	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127602

Predicted Effect

probably benign
Transcript: ENSMUST00000128042

SMART Domains

Protein: ENSMUSP00000116253
Gene: ENSMUSG00000034610

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151349

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit partial postnatal lethality associated with postnatal growth retardation and reduced circulating insulin-like growth factor I levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410124H12Rik	T	A	16: 92,478,929		noncoding transcript	Het
Apc2	T	A	10: 80,313,048	L1283Q	probably damaging	Het
Apol6	G	A	15: 77,050,716	A62T	probably damaging	Het
AU018091	A	T	7: 3,162,270	I204N	possibly damaging	Het
B4galnt4	G	T	7: 141,070,515	R765L	probably benign	Het
Brca1	T	C	11: 101,524,330	T993A	probably benign	Het
Cadps	C	T	14: 12,522,202		probably null	Het
Ccdc177	A	G	12: 80,758,745	S252P	unknown	Het
Cdc73	A	G	1: 143,699,279	S59P	probably damaging	Het
Cep63	G	T	9: 102,590,458	Q570K	possibly damaging	Het
Ces1c	A	T	8: 93,118,413	I120K	probably benign	Het
Cpeb1	T	C	7: 81,361,801	M131V	probably benign	Het
Dync1h1	G	A	12: 110,658,128	V3701I	probably damaging	Het
Fxr1	T	C	3: 34,064,232	S535P	possibly damaging	Het
Gldc	A	T	19: 30,133,756	V540D	probably damaging	Het
Iqcf6	A	G	9: 106,627,508	T124A	probably benign	Het
Itih4	A	G	14: 30,887,817	I35V	possibly damaging	Het
Kmt2c	T	C	5: 25,273,666	*1525W	probably null	Het
Kmt2c	A	T	5: 25,354,771	V963E	probably damaging	Het
Lmnb2	T	C	10: 80,907,165	S202G	probably benign	Het
Med23	T	G	10: 24,903,798	S924R	probably benign	Het
Olfr1454	T	C	19: 13,064,149	V246A	probably damaging	Het
Pcif1	T	C	2: 164,886,611	F263L	possibly damaging	Het
Pon2	A	T	6: 5,272,331	L163H	probably damaging	Het
Scn1a	C	T	2: 66,302,485	V165M	possibly damaging	Het
Sema6d	C	A	2: 124,665,098	P961Q	probably damaging	Het
Snx27	A	G	3: 94,561,843	Y64H	probably damaging	Het
Srsf11	C	T	3: 158,012,035		probably benign	Het
Taok1	A	G	11: 77,571,684	V193A	probably damaging	Het
Vps13d	T	C	4: 145,016,901	T4137A	probably benign	Het
Zbtb26	T	C	2: 37,436,271	Y251C	probably damaging	Het

Other mutations in Zcchc11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Zcchc11	APN	4	108550728	missense	probably damaging	1.00
IGL00684:Zcchc11	APN	4	108479466	missense	possibly damaging	0.80
IGL01599:Zcchc11	APN	4	108513399	missense	possibly damaging	0.85
IGL02088:Zcchc11	APN	4	108512218	splice site	probably benign
IGL02451:Zcchc11	APN	4	108529276	nonsense	probably null
IGL02667:Zcchc11	APN	4	108558708	splice site	probably benign
IGL03080:Zcchc11	APN	4	108505824	missense	probably damaging	1.00
IGL03374:Zcchc11	APN	4	108558777	missense	probably damaging	1.00
Flatter	UTSW	4	108542711	critical splice donor site	probably null
Ingratiate	UTSW	4	108512195	missense	probably damaging	1.00
oedipus	UTSW	4	108549355	missense	probably damaging	1.00
Please	UTSW	4	108512886	nonsense	probably null
H8786:Zcchc11	UTSW	4	108550815	critical splice donor site	probably null
IGL02799:Zcchc11	UTSW	4	108513528	missense	probably benign
R0013:Zcchc11	UTSW	4	108530955	splice site	probably benign
R0013:Zcchc11	UTSW	4	108530955	splice site	probably benign
R0051:Zcchc11	UTSW	4	108527004	missense	probably damaging	1.00
R0051:Zcchc11	UTSW	4	108527004	missense	probably damaging	1.00
R0410:Zcchc11	UTSW	4	108486555	missense	probably benign	0.27
R0698:Zcchc11	UTSW	4	108555533	missense	probably benign	0.22
R0745:Zcchc11	UTSW	4	108502955	splice site	probably benign
R1080:Zcchc11	UTSW	4	108479499	missense	possibly damaging	0.82
R1774:Zcchc11	UTSW	4	108507955	missense	probably damaging	1.00
R1809:Zcchc11	UTSW	4	108549355	missense	probably damaging	1.00
R1869:Zcchc11	UTSW	4	108529300	missense	probably damaging	1.00
R1874:Zcchc11	UTSW	4	108550725	missense	probably damaging	1.00
R1958:Zcchc11	UTSW	4	108555706	missense	probably damaging	1.00
R1976:Zcchc11	UTSW	4	108479523	missense	probably benign	0.01
R2034:Zcchc11	UTSW	4	108512195	missense	probably damaging	1.00
R2164:Zcchc11	UTSW	4	108503029	missense	possibly damaging	0.73
R2251:Zcchc11	UTSW	4	108520208	missense	probably damaging	1.00
R3001:Zcchc11	UTSW	4	108512928	missense	probably damaging	1.00
R3002:Zcchc11	UTSW	4	108512928	missense	probably damaging	1.00
R3003:Zcchc11	UTSW	4	108512928	missense	probably damaging	1.00
R4170:Zcchc11	UTSW	4	108548059	missense	probably damaging	1.00
R4667:Zcchc11	UTSW	4	108495159	missense	probably damaging	1.00
R4868:Zcchc11	UTSW	4	108549220	splice site	probably benign
R4989:Zcchc11	UTSW	4	108526845	unclassified	probably benign
R5014:Zcchc11	UTSW	4	108526846	unclassified	probably benign
R5118:Zcchc11	UTSW	4	108520292	missense	possibly damaging	0.92
R5431:Zcchc11	UTSW	4	108491412	missense	probably damaging	1.00
R5645:Zcchc11	UTSW	4	108557373	missense	probably damaging	1.00
R5661:Zcchc11	UTSW	4	108513187	missense	probably benign	0.05
R5877:Zcchc11	UTSW	4	108512923	missense	probably damaging	0.99
R6307:Zcchc11	UTSW	4	108555620	missense	probably damaging	1.00
R6326:Zcchc11	UTSW	4	108478980	missense	probably benign	0.02
R6407:Zcchc11	UTSW	4	108558782	missense	probably damaging	1.00
R6493:Zcchc11	UTSW	4	108526805	missense	probably damaging	1.00
R6587:Zcchc11	UTSW	4	108479449	missense	probably benign
R7215:Zcchc11	UTSW	4	108527008	missense	probably damaging	1.00
R7413:Zcchc11	UTSW	4	108549336	missense	possibly damaging	0.69
R7584:Zcchc11	UTSW	4	108479346	missense	probably benign	0.00
R7872:Zcchc11	UTSW	4	108517518	missense	probably damaging	1.00
R7970:Zcchc11	UTSW	4	108486454	missense	probably benign	0.00
R8214:Zcchc11	UTSW	4	108512150	missense	probably benign	0.00
R8297:Zcchc11	UTSW	4	108479708	missense	possibly damaging	0.86
R8504:Zcchc11	UTSW	4	108530942	missense	probably damaging	1.00
R8514:Zcchc11	UTSW	4	108557357	missense	possibly damaging	0.65
R8557:Zcchc11	UTSW	4	108542711	critical splice donor site	probably null
R8750:Zcchc11	UTSW	4	108550743	missense	probably damaging	1.00
R8805:Zcchc11	UTSW	4	108549378	missense	possibly damaging	0.83
R8903:Zcchc11	UTSW	4	108479211	missense	probably damaging	1.00
R9003:Zcchc11	UTSW	4	108542832	missense	probably damaging	0.98
R9218:Zcchc11	UTSW	4	108512886	nonsense	probably null
R9412:Zcchc11	UTSW	4	108557364	missense
R9546:Zcchc11	UTSW	4	108513232	missense	probably benign	0.05
R9547:Zcchc11	UTSW	4	108513232	missense	probably benign	0.05
R9721:Zcchc11	UTSW	4	108555581	missense	probably benign	0.22

Posted On

2013-12-09