Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00684:Tut4'

14913

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tut4

Ensembl Gene

ENSMUSG00000034610

Gene Name

terminal uridylyl transferase 4

Synonyms

9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00684

Quality Score

Status

Chromosome

Chromosomal Location

108316623-108416618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108336663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 129 (M129T)

Ref Sequence

ENSEMBL: ENSMUSP00000120172 (fasta)

Gene Model

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

AlphaFold

B2RX14

Predicted Effect

probably benign
Transcript: ENSMUST00000043368
AA Change: M168T

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: M168T

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: M168T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: M168T

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: M129T

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
AA Change: M129T

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	G	T	7: 16,295,625 (GRCm39)	R1147S	possibly damaging	Het
Carnmt1	A	G	19: 18,680,746 (GRCm39)	E340G	possibly damaging	Het
Casp8	T	C	1: 58,866,473 (GRCm39)		probably null	Het
Cntnap1	C	T	11: 101,075,918 (GRCm39)	A934V	possibly damaging	Het
Hoxd8	T	C	2: 74,537,110 (GRCm39)	V93A	probably benign	Het
Luc7l2	A	G	6: 38,585,111 (GRCm39)		probably benign	Het
Nup42	C	A	5: 24,387,041 (GRCm39)	A277E	possibly damaging	Het
Sag	A	T	1: 87,752,146 (GRCm39)		probably null	Het
Senp1	A	G	15: 97,962,719 (GRCm39)	S322P	probably damaging	Het
Senp3	A	G	11: 69,564,919 (GRCm39)	V517A	possibly damaging	Het
Shprh	A	G	10: 11,038,781 (GRCm39)	D512G	probably benign	Het
Syne1	T	A	10: 5,342,167 (GRCm38)		probably benign	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
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
R1080:Tut4	UTSW	4	108,336,696 (GRCm39)	missense	possibly damaging	0.82
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

Posted On

2012-12-06