Mutagenetix > Incidental Mutation

Incidental Mutation 'R9721:Zcchc11'

730777

Institutional Source

Beutler Lab

Gene Symbol

Zcchc11

Ensembl Gene

ENSMUSG00000034610

Gene Name

zinc finger, CCHC domain containing 11

Synonyms

6030404K05Rik, 9230115F04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108459426-108559421 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108555581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1493 (M1493K)

Ref Sequence

ENSEMBL: ENSMUSP00000095538 (fasta)

Gene Model

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

AlphaFold

B2RX14

Predicted Effect

probably benign
Transcript: ENSMUST00000043368
AA Change: M1488K

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: M1488K

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: M1493K

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: M1493K

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: ENSMUST00000128042

SMART Domains

Protein: ENSMUSP00000116253
Gene: ENSMUSG00000034610

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,419,283	Y120N	probably benign	Het
2410089E03Rik	A	G	15: 8,225,409	T27A	unknown	Het
4931428F04Rik	A	T	8: 105,283,188	D376E	probably benign	Het
AI314180	A	T	4: 58,850,938	S412T	probably benign	Het
Alox8	T	A	11: 69,197,085	H131L	probably benign	Het
Atp13a1	A	G	8: 69,799,437	E588G	probably damaging	Het
AU040320	G	A	4: 126,839,648	V654M	probably damaging	Het
Bicra	A	G	7: 15,979,176	L982P	probably damaging	Het
Cdh11	A	T	8: 102,679,625	V72E	probably damaging	Het
Cfap65	T	C	1: 74,919,342	T869A	probably benign	Het
Ddx19a	A	G	8: 110,978,475	F338S	probably damaging	Het
Dhrs7c	T	A	11: 67,815,078	V219E	probably damaging	Het
Dhx33	A	G	11: 71,001,598	V115A	probably damaging	Het
Dst	A	G	1: 34,192,785	D3153G	probably benign	Het
Eif5b	T	C	1: 38,037,659		probably null	Het
Ep300	A	G	15: 81,608,315	N284S	unknown	Het
Fam83a	A	G	15: 57,986,117	N19S	probably benign	Het
Fgd5	A	T	6: 91,988,297	T504S	probably benign	Het
Flt4	G	A	11: 49,644,433		probably null	Het
Ggta1	G	T	2: 35,413,406	D91E	probably benign	Het
Gls	A	G	1: 52,212,268	V310A	probably damaging	Het
Gm13178	A	T	4: 144,703,372	V349D	possibly damaging	Het
Gm5414	A	T	15: 101,628,147	C14*	probably null	Het
Gm906	T	C	13: 50,246,652	Y546C	possibly damaging	Het
Gm9887	C	G	12: 69,371,855	A202P	unknown	Het
Ifi214	T	C	1: 173,527,913	T110A	possibly damaging	Het
Il4i1	A	G	7: 44,839,689	R293G	probably benign	Het
Itpr1	A	T	6: 108,406,102	T1464S	probably damaging	Het
Kif18a	T	C	2: 109,293,055	S225P	probably damaging	Het
Kif21a	A	T	15: 90,971,127	I678N	probably damaging	Het
Klf11	T	A	12: 24,660,241	D429E	probably damaging	Het
Kntc1	A	G	5: 123,801,885	T1581A	probably benign	Het
Lama2	T	C	10: 27,467,342	N45D	possibly damaging	Het
Lrrk1	T	C	7: 66,274,875	I1319V	probably damaging	Het
Ltbr	G	A	6: 125,307,385	R365W	probably damaging	Het
Malrd1	C	T	2: 15,696,827	T751I	unknown	Het
Mgat5b	T	C	11: 116,966,769	L363P	probably damaging	Het
Mphosph9	A	T	5: 124,298,675	S535R	possibly damaging	Het
Nckap5	C	T	1: 126,027,280	D512N	probably damaging	Het
Ngef	T	A	1: 87,479,135	D637V	probably damaging	Het
Nup93	T	C	8: 94,303,685	Y391H	probably damaging	Het
Olfr1215	T	C	2: 89,001,716	T191A		Het
Olfr1406	C	A	1: 173,184,348	V29F	probably benign	Het
Olfr1469	A	T	19: 13,410,970	T134S	probably benign	Het
Pcdhb4	C	A	18: 37,309,852	D738E	possibly damaging	Het
Pfpl	G	C	19: 12,428,933	E183Q	probably damaging	Het
Phactr3	G	A	2: 178,256,250	E86K	probably damaging	Het
Psd	C	T	19: 46,323,189	D351N	probably benign	Het
Pzp	A	G	6: 128,495,191		probably null	Het
Rerg	T	A	6: 137,056,417	K106*	probably null	Het
Samd9l	T	C	6: 3,375,854	E469G	possibly damaging	Het
Smok2b	C	A	17: 13,234,978	Y8*	probably null	Het
Spn	A	G	7: 127,136,265	S357P	probably benign	Het
Tek	T	G	4: 94,804,302	W216G	possibly damaging	Het
Trpm3	A	T	19: 22,889,398	H531L	probably benign	Het
Trpm6	A	G	19: 18,829,972	M1027V	probably benign	Het
Tsc2	G	A	17: 24,599,642	R1408*	probably null	Het
Unc13b	A	G	4: 43,101,869	N155D	probably benign	Het
Vmn1r52	G	A	6: 90,179,026	C104Y	probably damaging	Het
Xylt1	A	T	7: 117,549,020	E273V	probably damaging	Het
Zc3h4	C	A	7: 16,434,845	Q1035K	unknown	Het
Zfp14	A	T	7: 30,039,184	S125R	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGCCTCAGCCTTTTCCACAG -3'
(R):5'- TGTTCACCAGGGAATTGGGAG -3'

Sequencing Primer
(F):5'- GAATTCTCCCCAACCATCTGC -3'
(R):5'- AGGCCAGTGTCCATCGTGAG -3'

Posted On

2022-10-06