Mutagenetix > Incidental Mutation

Incidental Mutation 'R1080:Tut4'

85818

Institutional Source

Beutler Lab

Gene Symbol

Tut4

Ensembl Gene

ENSMUSG00000034610

Gene Name

terminal uridylyl transferase 4

Synonyms

9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11

MMRRC Submission

039166-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108316623-108416618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108336696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 140 (E140G)

Ref Sequence

ENSEMBL: ENSMUSP00000120172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043368] [ENSMUST00000097925] [ENSMUST00000106673] [ENSMUST00000155068]

AlphaFold

B2RX14

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043368
AA Change: E179G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: E179G

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

possibly damaging
Transcript: ENSMUST00000097925
AA Change: E179G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: E179G

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: ENSMUST00000106673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119769

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155068
AA Change: E140G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
AA Change: E140G

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.2%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,265,109 (GRCm39)	N87S	probably benign	Het
Agbl3	A	T	6: 34,805,170 (GRCm39)	N679I	probably benign	Het
Akp3	T	A	1: 87,054,723 (GRCm39)	F353I	probably damaging	Het
Bltp1	A	G	3: 37,042,404 (GRCm39)	T2797A	probably damaging	Het
Calu	A	G	6: 29,366,919 (GRCm39)	T44A	possibly damaging	Het
Cd180	G	A	13: 102,842,728 (GRCm39)	W591*	probably null	Het
Cnbd2	A	G	2: 156,181,193 (GRCm39)	N209S	probably benign	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fam136b-ps	T	C	15: 31,276,739 (GRCm39)		probably benign	Het
Fbln5	A	T	12: 101,717,131 (GRCm39)	M419K	possibly damaging	Het
Galr1	A	C	18: 82,423,632 (GRCm39)	I215S	probably damaging	Het
Kcnma1	G	C	14: 23,544,675 (GRCm39)	Q436E	probably damaging	Het
Khsrp	GTCATT	GT	17: 57,331,410 (GRCm39)		probably null	Het
Klhdc8b	T	C	9: 108,326,837 (GRCm39)	N175S	probably benign	Het
Lrrk2	T	C	15: 91,557,892 (GRCm39)	V76A	probably benign	Het
Mnat1	T	C	12: 73,319,292 (GRCm39)	F305S	probably damaging	Het
Nck2	T	C	1: 43,572,741 (GRCm39)	V5A	probably benign	Het
Nkd1	T	A	8: 89,318,647 (GRCm39)	M428K	probably benign	Het
Or4e5	A	T	14: 52,728,042 (GRCm39)	Y43*	probably null	Het
Pcdh7	T	C	5: 57,876,768 (GRCm39)	C108R	probably damaging	Het
Rtf2	G	T	2: 172,310,666 (GRCm39)	W299L	probably damaging	Het
Smtn	C	A	11: 3,467,693 (GRCm39)	R942L	probably damaging	Het
Svil	C	T	18: 5,058,147 (GRCm39)	P265S	possibly damaging	Het
Tdrd3	T	C	14: 87,743,834 (GRCm39)	L588P	probably benign	Het
Tecpr1	A	G	5: 144,153,747 (GRCm39)	Y169H	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmprss2	G	A	16: 97,392,698 (GRCm39)	S83L	probably benign	Het
Vmn2r112	T	C	17: 22,837,980 (GRCm39)	S814P	probably damaging	Het
Zfp386	T	A	12: 116,023,426 (GRCm39)	C381*	probably null	Het
Zfp809	T	G	9: 22,146,405 (GRCm39)	D31E	probably damaging	Het
Zfy2	T	A	Y: 2,121,645 (GRCm39)	T83S	probably benign	Het
Zswim6	A	G	13: 107,924,186 (GRCm39)		noncoding transcript	Het

Other mutations in Tut4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Tut4	APN	4	108,407,925 (GRCm39)	missense	probably damaging	1.00
IGL00684:Tut4	APN	4	108,336,663 (GRCm39)	missense	possibly damaging	0.80
IGL01598:Tut4	APN	4	108,408,017 (GRCm39)	unclassified	probably benign
IGL01599:Tut4	APN	4	108,370,596 (GRCm39)	missense	possibly damaging	0.85
IGL02088:Tut4	APN	4	108,369,415 (GRCm39)	splice site	probably benign
IGL02451:Tut4	APN	4	108,386,473 (GRCm39)	nonsense	probably null
IGL02667:Tut4	APN	4	108,415,905 (GRCm39)	splice site	probably benign
IGL03080:Tut4	APN	4	108,363,021 (GRCm39)	missense	probably damaging	1.00
IGL03374:Tut4	APN	4	108,415,974 (GRCm39)	missense	probably damaging	1.00
Flatter	UTSW	4	108,399,908 (GRCm39)	critical splice donor site	probably null
Ingratiate	UTSW	4	108,369,392 (GRCm39)	missense	probably damaging	1.00
oedipus	UTSW	4	108,406,552 (GRCm39)	missense	probably damaging	1.00
Please	UTSW	4	108,370,083 (GRCm39)	nonsense	probably null
H8786:Tut4	UTSW	4	108,408,012 (GRCm39)	critical splice donor site	probably null
IGL02799:Tut4	UTSW	4	108,370,725 (GRCm39)	missense	probably benign
R0013:Tut4	UTSW	4	108,388,152 (GRCm39)	splice site	probably benign
R0013:Tut4	UTSW	4	108,388,152 (GRCm39)	splice site	probably benign
R0051:Tut4	UTSW	4	108,384,201 (GRCm39)	missense	probably damaging	1.00
R0051:Tut4	UTSW	4	108,384,201 (GRCm39)	missense	probably damaging	1.00
R0410:Tut4	UTSW	4	108,343,752 (GRCm39)	missense	probably benign	0.27
R0698:Tut4	UTSW	4	108,412,730 (GRCm39)	missense	probably benign	0.22
R0745:Tut4	UTSW	4	108,360,152 (GRCm39)	splice site	probably benign
R1774:Tut4	UTSW	4	108,365,152 (GRCm39)	missense	probably damaging	1.00
R1809:Tut4	UTSW	4	108,406,552 (GRCm39)	missense	probably damaging	1.00
R1869:Tut4	UTSW	4	108,386,497 (GRCm39)	missense	probably damaging	1.00
R1874:Tut4	UTSW	4	108,407,922 (GRCm39)	missense	probably damaging	1.00
R1958:Tut4	UTSW	4	108,412,903 (GRCm39)	missense	probably damaging	1.00
R1976:Tut4	UTSW	4	108,336,720 (GRCm39)	missense	probably benign	0.01
R2034:Tut4	UTSW	4	108,369,392 (GRCm39)	missense	probably damaging	1.00
R2164:Tut4	UTSW	4	108,360,226 (GRCm39)	missense	possibly damaging	0.73
R2251:Tut4	UTSW	4	108,377,405 (GRCm39)	missense	probably damaging	1.00
R3001:Tut4	UTSW	4	108,370,125 (GRCm39)	missense	probably damaging	1.00
R3002:Tut4	UTSW	4	108,370,125 (GRCm39)	missense	probably damaging	1.00
R3003:Tut4	UTSW	4	108,370,125 (GRCm39)	missense	probably damaging	1.00
R4170:Tut4	UTSW	4	108,405,256 (GRCm39)	missense	probably damaging	1.00
R4667:Tut4	UTSW	4	108,352,356 (GRCm39)	missense	probably damaging	1.00
R4868:Tut4	UTSW	4	108,406,417 (GRCm39)	splice site	probably benign
R4989:Tut4	UTSW	4	108,384,042 (GRCm39)	unclassified	probably benign
R5014:Tut4	UTSW	4	108,384,043 (GRCm39)	unclassified	probably benign
R5118:Tut4	UTSW	4	108,377,489 (GRCm39)	missense	possibly damaging	0.92
R5431:Tut4	UTSW	4	108,348,609 (GRCm39)	missense	probably damaging	1.00
R5645:Tut4	UTSW	4	108,414,570 (GRCm39)	missense	probably damaging	1.00
R5661:Tut4	UTSW	4	108,370,384 (GRCm39)	missense	probably benign	0.05
R5877:Tut4	UTSW	4	108,370,120 (GRCm39)	missense	probably damaging	0.99
R6307:Tut4	UTSW	4	108,412,817 (GRCm39)	missense	probably damaging	1.00
R6326:Tut4	UTSW	4	108,336,177 (GRCm39)	missense	probably benign	0.02
R6407:Tut4	UTSW	4	108,415,979 (GRCm39)	missense	probably damaging	1.00
R6493:Tut4	UTSW	4	108,384,002 (GRCm39)	missense	probably damaging	1.00
R6587:Tut4	UTSW	4	108,336,646 (GRCm39)	missense	probably benign
R7215:Tut4	UTSW	4	108,384,205 (GRCm39)	missense	probably damaging	1.00
R7413:Tut4	UTSW	4	108,406,533 (GRCm39)	missense	possibly damaging	0.69
R7584:Tut4	UTSW	4	108,336,543 (GRCm39)	missense	probably benign	0.00
R7872:Tut4	UTSW	4	108,374,715 (GRCm39)	missense	probably damaging	1.00
R7970:Tut4	UTSW	4	108,343,651 (GRCm39)	missense	probably benign	0.00
R8214:Tut4	UTSW	4	108,369,347 (GRCm39)	missense	probably benign	0.00
R8297:Tut4	UTSW	4	108,336,905 (GRCm39)	missense	possibly damaging	0.86
R8504:Tut4	UTSW	4	108,388,139 (GRCm39)	missense	probably damaging	1.00
R8514:Tut4	UTSW	4	108,414,554 (GRCm39)	missense	possibly damaging	0.65
R8557:Tut4	UTSW	4	108,399,908 (GRCm39)	critical splice donor site	probably null
R8750:Tut4	UTSW	4	108,407,940 (GRCm39)	missense	probably damaging	1.00
R8805:Tut4	UTSW	4	108,406,575 (GRCm39)	missense	possibly damaging	0.83
R8903:Tut4	UTSW	4	108,336,408 (GRCm39)	missense	probably damaging	1.00
R9003:Tut4	UTSW	4	108,400,029 (GRCm39)	missense	probably damaging	0.98
R9218:Tut4	UTSW	4	108,370,083 (GRCm39)	nonsense	probably null
R9412:Tut4	UTSW	4	108,414,561 (GRCm39)	missense
R9546:Tut4	UTSW	4	108,370,429 (GRCm39)	missense	probably benign	0.05
R9547:Tut4	UTSW	4	108,370,429 (GRCm39)	missense	probably benign	0.05
R9721:Tut4	UTSW	4	108,412,778 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- AGCCCAGAAGGGATCTTCACAGAC -3'
(R):5'- GCCCAAAATGGAGCTTGTGGAAAC -3'

Sequencing Primer
(F):5'- AAGGGATCTTCACAGACAAAATTAG -3'
(R):5'- TGAAGCACTGTCATCAGAATCAG -3'

Posted On

2013-11-18