Mutagenetix > Incidental Mutation

Incidental Mutation 'R8214:Tut4'

636302

Institutional Source

Beutler Lab

Gene Symbol

Tut4

Ensembl Gene

ENSMUSG00000034610

Gene Name

terminal uridylyl transferase 4

Synonyms

9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11

MMRRC Submission

067656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108316623-108416618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108369347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 636 (I636V)

Ref Sequence

ENSEMBL: ENSMUSP00000120172 (fasta)

Gene Model

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

AlphaFold

B2RX14

Predicted Effect

probably benign
Transcript: ENSMUST00000043368
AA Change: I675V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: I675V

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: I675V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: I675V

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: I636V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
AA Change: I636V

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

Validation Efficiency

100% (42/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,177,447 (GRCm39)	R52Q		Het
Abcc3	C	T	11: 94,254,344 (GRCm39)	R718H	probably damaging	Het
Abcc4	T	C	14: 118,738,253 (GRCm39)	M1166V	probably benign	Het
Abhd16b	C	T	2: 181,135,983 (GRCm39)	T295I	probably damaging	Het
Amph	A	G	13: 19,288,468 (GRCm39)	N319S	possibly damaging	Het
Ankrd27	A	G	7: 35,313,944 (GRCm39)	D425G	probably damaging	Het
Atg4b	T	C	1: 93,712,609 (GRCm39)	S316P	probably damaging	Het
Brd4	A	G	17: 32,431,921 (GRCm39)	S649P	probably benign	Het
Bzw1	T	C	1: 58,444,196 (GRCm39)	S411P	probably damaging	Het
Carmil1	T	C	13: 24,228,215 (GRCm39)	E987G	probably damaging	Het
Dnah6	T	C	6: 73,021,711 (GRCm39)	D3537G	probably damaging	Het
Dnpep	A	T	1: 75,292,642 (GRCm39)	W126R	probably damaging	Het
Efcab2	T	C	1: 178,265,015 (GRCm39)	V27A	probably benign	Het
Kctd21	T	C	7: 96,996,548 (GRCm39)	L7P	probably damaging	Het
Kidins220	C	T	12: 25,044,854 (GRCm39)	T216I	probably damaging	Het
Lpl	T	A	8: 69,345,257 (GRCm39)	M87K	probably damaging	Het
Ltn1	A	G	16: 87,177,691 (GRCm39)	V1646A	probably benign	Het
Madcam1	A	G	10: 79,502,592 (GRCm39)	T359A	probably benign	Het
Muc5ac	A	G	7: 141,356,685 (GRCm39)	K1092E	possibly damaging	Het
Nrg2	T	C	18: 36,329,729 (GRCm39)	E162G	probably benign	Het
Or10ak11	A	T	4: 118,687,288 (GRCm39)	F117L	probably benign	Het
Or52e2	A	C	7: 102,804,613 (GRCm39)	S114A	probably damaging	Het
Or5p54	T	A	7: 107,554,174 (GRCm39)	S109T	probably benign	Het
Pcdhb5	G	T	18: 37,454,636 (GRCm39)	V339L	probably benign	Het
Plec	A	G	15: 76,076,484 (GRCm39)	W145R	unknown	Het
Polr3f	A	G	2: 144,378,230 (GRCm39)	N201D	probably benign	Het
Skint5	T	C	4: 113,662,139 (GRCm39)		probably null	Het
Slc12a2	A	G	18: 58,070,791 (GRCm39)	I1048V	probably benign	Het
Sult2a4	A	G	7: 13,723,401 (GRCm39)	I39T	probably benign	Het
Tenm4	T	C	7: 96,544,614 (GRCm39)	V2247A	probably damaging	Het
Tg	C	T	15: 66,645,247 (GRCm39)	R2385C	probably damaging	Het
Tomm70a	G	T	16: 56,942,330 (GRCm39)	A36S	unknown	Het
Top2b	G	A	14: 16,383,177 (GRCm38)	R55H	probably damaging	Het
Unc45b	A	G	11: 82,824,714 (GRCm39)	I629M	possibly damaging	Het
Vmn1r16	T	C	6: 57,300,424 (GRCm39)	E66G	noncoding transcript	Het
Vmn1r189	C	T	13: 22,286,301 (GRCm39)	V179I	probably benign	Het
Vmn2r105	T	G	17: 20,448,775 (GRCm39)	E134A	probably benign	Het
Wdr70	G	A	15: 7,916,851 (GRCm39)	A522V	probably benign	Het
Zfp184	T	A	13: 22,142,995 (GRCm39)	C234S	probably damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	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
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
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'- AAGTGCTTTCTTTATGCCTGAC -3'
(R):5'- AAGTTGATGTGAAACCCAGTCAAC -3'

Sequencing Primer
(F):5'- GGAAGCACCAAATCAGGTA -3'
(R):5'- CCAGTCAACATCAATCATCATTGTC -3'

Posted On

2020-07-13