Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Zcchc11'

92057

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 #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

108459426-108559421 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108513399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 871 (S871P)

Ref Sequence

ENSEMBL: ENSMUSP00000044836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043368] [ENSMUST00000097925] [ENSMUST00000155068]

AlphaFold

B2RX14

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043368
AA Change: S871P

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: S871P

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
AA Change: S871P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: S871P

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: ENSMUST00000142835

Predicted Effect

probably benign
Transcript: ENSMUST00000155068
AA Change: S832P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
AA Change: S832P

Domain	Start	End	E-Value	Type
low complexity region	221	236	N/A	INTRINSIC
SCOP:d1f5aa2	324	530	2e-23	SMART
Pfam:PAP_assoc	609	662	8.8e-15	PFAM
low complexity region	704	719	N/A	INTRINSIC
low complexity region	776	789	N/A	INTRINSIC
ZnF_C2HC	892	908	7.79e-3	SMART

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,214,134	V105A	probably benign	Het
Acr	T	C	15: 89,568,414	V18A	probably benign	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 45,142,093	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,738,365	Y338N	probably benign	Het
Aox3	C	T	1: 58,169,794	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,737,046	S1535P	probably benign	Het
C4b	A	G	17: 34,743,019		probably benign	Het
Ccdc157	A	G	11: 4,148,781	C242R	probably damaging	Het
Cep135	T	A	5: 76,593,347	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,244,057		probably null	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Copb2	T	C	9: 98,581,150	S473P	probably damaging	Het
Cpb1	C	T	3: 20,251,954		probably null	Het
Cpsf1	A	G	15: 76,596,541	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,212,462	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,691,884	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,034,964	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,186,656	V287M	probably damaging	Het
Fras1	T	C	5: 96,709,891	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,040,004		probably benign	Het
Gprc5c	A	G	11: 114,864,252	I252V	probably benign	Het
Ints3	C	T	3: 90,394,322		probably null	Het
L1td1	A	G	4: 98,737,344	D592G	probably damaging	Het
Lamb3	A	G	1: 193,343,412	M1137V	probably benign	Het
Leng8	C	A	7: 4,145,482	A751E	probably benign	Het
Lfng	T	C	5: 140,612,535	V204A	probably damaging	Het
Lsm14b	A	G	2: 180,032,603	D233G	probably damaging	Het
Map4	C	T	9: 110,034,768	P354S	probably benign	Het
Mapt	G	A	11: 104,294,915	V53M	probably damaging	Het
Mier1	T	G	4: 103,155,541	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,251,847	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,789	A257V	probably damaging	Het
Nup188	T	C	2: 30,327,525	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,021,310	S333P	probably damaging	Het
Olfr460	A	C	6: 40,572,252	I289L	probably damaging	Het
Olfr849	T	G	9: 19,441,815	F301V	probably benign	Het
Pbxip1	C	A	3: 89,443,590		probably benign	Het
Pde9a	G	T	17: 31,414,150	C38F	probably damaging	Het
Plb1	A	T	5: 32,342,544		probably benign	Het
Plcz1	T	C	6: 140,002,256		probably benign	Het
Plxnb1	T	C	9: 109,110,604	V1447A	probably damaging	Het
Pnldc1	A	T	17: 12,906,528	M73K	probably benign	Het
Psg20	C	T	7: 18,681,038	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,659,405		probably null	Het
Rabgap1	T	C	2: 37,556,269	V859A	probably damaging	Het
Rad51b	T	A	12: 79,327,228	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,248,771	Q788*	probably null	Het
Ror2	C	T	13: 53,111,617	G468R	probably damaging	Het
Slamf7	A	G	1: 171,641,186	I46T	possibly damaging	Het
Stab2	A	G	10: 86,922,895	S1060P	probably damaging	Het
Syndig1	T	A	2: 150,003,283	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,118,451	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,359,552		probably benign	Het
Trav21-dv12	T	C	14: 53,876,731	Y103H	probably damaging	Het
Ubr3	T	C	2: 69,938,178	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,092,120	C749F	probably damaging	Het
Ulk2	G	T	11: 61,791,436	S751*	probably null	Het
Wrn	G	A	8: 33,241,011	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,346,349	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,309,723	S223P	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
IGL01598:Zcchc11	APN	4	108550820	unclassified	probably benign
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