Mutagenetix > Incidental Mutations

Incidental Mutation 'R2164:Zcchc11'

235336

Institutional Source

Beutler Lab

Gene Symbol

Zcchc11

Ensembl Gene

ENSMUSG00000034610

Gene Name

zinc finger, CCHC domain containing 11

Synonyms

6030404K05Rik, 9230115F04Rik

MMRRC Submission

040167-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108459426-108559421 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108503029 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 481 (R481Q)

Ref Sequence

ENSEMBL: ENSMUSP00000095538 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043368
AA Change: R481Q

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: R481Q

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

noncoding transcript
Transcript: ENSMUST00000083365

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097925
AA Change: R481Q

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: R481Q

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

probably benign
Transcript: ENSMUST00000155068
AA Change: R442Q

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
AA Change: R442Q

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	CTGTAGGAAATCTTCAATGT	CTGT	11: 110,210,193		probably null	Het
Adcy8	C	T	15: 64,920,934	G58S	probably benign	Het
Adgra2	T	A	8: 27,114,204	L24*	probably null	Het
Ampd2	C	A	3: 108,085,369		probably benign	Het
Ankrd26	T	G	6: 118,525,791	E806A	probably damaging	Het
Apol9b	A	G	15: 77,735,439	D145G	probably benign	Het
Ash1l	T	A	3: 88,985,419	M1535K	probably benign	Het
Atf6	A	G	1: 170,794,735	M439T	probably damaging	Het
B3glct	A	T	5: 149,754,156	M417L	probably damaging	Het
Cep192	A	T	18: 67,820,360	T483S	probably damaging	Het
Cep290	G	A	10: 100,518,795	E914K	probably damaging	Het
Chst15	C	T	7: 132,270,385	A56T	probably damaging	Het
Col27a1	A	T	4: 63,225,424	T450S	probably benign	Het
Cpsf2	A	G	12: 101,985,335	N177S	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Ctc1	C	T	11: 69,035,615	A859V	possibly damaging	Het
Dcakd	A	G	11: 102,997,357	Y134H	possibly damaging	Het
Dctn3	G	T	4: 41,723,065	Y22*	probably null	Het
Dync2h1	T	A	9: 7,124,797	D2025V	probably damaging	Het
Dync2li1	T	C	17: 84,636,274	S92P	probably damaging	Het
Eml5	A	G	12: 98,887,097	V81A	probably damaging	Het
Espl1	C	T	15: 102,319,588	R1625C	probably damaging	Het
Fam181a	T	C	12: 103,316,526	V230A	probably benign	Het
Fam213b	T	G	4: 154,898,149	Y56S	probably damaging	Het
Fanci	T	A	7: 79,395,995	D28E	probably benign	Het
Fmn1	A	G	2: 113,365,617	N554S	unknown	Het
Frem2	T	C	3: 53,537,330	Y2460C	probably damaging	Het
Fscb	G	A	12: 64,473,793	P300S	probably damaging	Het
Gm28042	A	G	2: 120,036,748	D438G	probably benign	Het
Map1b	C	T	13: 99,429,338	V2292M	unknown	Het
Nbas	A	G	12: 13,330,646	D635G	possibly damaging	Het
Ncapg2	A	G	12: 116,450,475		probably null	Het
Nrp2	A	T	1: 62,744,355	E205V	probably damaging	Het
Pcdhb3	A	T	18: 37,302,186	T402S	possibly damaging	Het
Phc1	T	C	6: 122,322,337	N638D	possibly damaging	Het
Plcb1	A	G	2: 135,346,330	N781S	possibly damaging	Het
Prkdc	T	A	16: 15,705,207	D1164E	probably damaging	Het
Proser2	T	A	2: 6,100,695	R353W	possibly damaging	Het
Ptges	T	A	2: 30,892,696	T115S	probably benign	Het
Ptprk	A	T	10: 28,560,142	D833V	probably damaging	Het
Pum1	T	A	4: 130,728,083	L173*	probably null	Het
Pum1	G	T	4: 130,728,084	L269F	probably damaging	Het
Rasgrp4	A	G	7: 29,139,045	Y106C	probably damaging	Het
Rbbp6	T	A	7: 122,999,474		probably benign	Het
Rdh1	A	G	10: 127,760,172	T79A	possibly damaging	Het
Relb	A	C	7: 19,613,761		probably null	Het
Rnf122	G	A	8: 31,112,164	W6*	probably null	Het
Rnf31	A	G	14: 55,592,537	E138G	possibly damaging	Het
Scaf8	G	A	17: 3,197,210	R936Q	probably damaging	Het
Scube3	T	A	17: 28,166,134	V686D	possibly damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Spns2	C	T	11: 72,458,671	V252M	possibly damaging	Het
Tmem159	A	G	7: 120,120,239	E157G	possibly damaging	Het
Tomm40l	C	T	1: 171,220,134	S220N	probably damaging	Het
Trim17	A	G	11: 58,971,411	D423G	probably damaging	Het
Trpc6	A	AT	9: 8,610,465		probably null	Het
Uba5	A	T	9: 104,060,243	M89K	probably damaging	Het
Vav2	T	C	2: 27,273,706	D628G	probably damaging	Het
Vmn2r107	T	C	17: 20,375,642	L819P	probably damaging	Het
Vmn2r25	A	T	6: 123,839,559	D354E	possibly damaging	Het
Xrn1	A	G	9: 96,006,820	E984G	possibly damaging	Het
Zbtb17	T	C	4: 141,464,246	V223A	probably benign	Het
Zfp592	T	C	7: 81,041,438	S1122P	possibly 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCATATAACAAATGACTCCAGG -3'
(R):5'- TTCACAAACATGGACAGATACAGTC -3'

Sequencing Primer
(F):5'- CCAGGAGAGGTAAGAGATTCTTTTG -3'
(R):5'- CAACATTTTAGATAAGCTGGCTGCCC -3'

Posted On

2014-10-01