Mutagenetix > Incidental Mutation

Incidental Mutation 'R6495:Tut7'

520461

Institutional Source

Beutler Lab

Gene Symbol

Tut7

Ensembl Gene

ENSMUSG00000035248

Gene Name

terminal uridylyl transferase 7

Synonyms

Zcchc6, Tent3b, 6030448M23Rik

MMRRC Submission

044627-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.796) question?

Stock #

R6495 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59919690-59971060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59947753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 454 (E454G)

Ref Sequence

ENSEMBL: ENSMUSP00000153376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071703] [ENSMUST00000224480]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071703
AA Change: E856G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: E856G

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
low complexity region	176	190	N/A	INTRINSIC
ZnF_C2H2	244	268	2.61e1	SMART
SCOP:d1f5aa2	284	497	4e-25	SMART
low complexity region	522	534	N/A	INTRINSIC
Pfam:PAP_assoc	550	603	6.7e-14	PFAM
low complexity region	811	825	N/A	INTRINSIC
low complexity region	846	857	N/A	INTRINSIC
low complexity region	882	898	N/A	INTRINSIC
ZnF_C2HC	960	976	3.3e-3	SMART
Pfam:NTP_transf_2	1022	1134	4e-8	PFAM
Pfam:PAP_assoc	1229	1282	1.7e-17	PFAM
ZnF_C2HC	1342	1358	2.09e-3	SMART
Pfam:TUTF7_u4	1359	1446	1.6e-42	PFAM
ZnF_C2HC	1448	1464	1.06e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224480
AA Change: E454G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000225241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225944

Meta Mutation Damage Score

0.0729

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	A	12: 112,740,148 (GRCm39)	E502V	probably damaging	Het
Apbb1ip	T	A	2: 22,743,132 (GRCm39)	Y321*	probably null	Het
Apob	A	G	12: 8,040,394 (GRCm39)	K577R	probably null	Het
Arfgef3	A	G	10: 18,486,950 (GRCm39)		probably null	Het
Asap3	T	A	4: 135,955,790 (GRCm39)		probably null	Het
Atp13a5	C	T	16: 29,140,440 (GRCm39)		probably null	Het
Bcan	C	A	3: 87,903,904 (GRCm39)	A194S	possibly damaging	Het
Cacybp	T	C	1: 160,036,093 (GRCm39)	T32A	probably benign	Het
Cd82	A	G	2: 93,260,357 (GRCm39)	V90A	probably benign	Het
Chd5	C	T	4: 152,451,829 (GRCm39)	R714C	probably damaging	Het
Cpb2	T	C	14: 75,512,519 (GRCm39)	Y311H	probably damaging	Het
Cyp39a1	T	C	17: 44,002,585 (GRCm39)	Y267H	probably benign	Het
Dnajc6	C	T	4: 101,492,262 (GRCm39)	Q766*	probably null	Het
Dusp3	T	C	11: 101,872,653 (GRCm39)	I48V	probably benign	Het
Eif3c	A	T	7: 126,146,672 (GRCm39)	F809I	probably damaging	Het
Exosc10	C	T	4: 148,647,329 (GRCm39)	P213S	probably benign	Het
Galns	C	T	8: 123,327,349 (GRCm39)	G141D	probably damaging	Het
Gm3233	A	T	10: 77,594,886 (GRCm39)		probably benign	Het
Hadha	A	T	5: 30,325,048 (GRCm39)	L714H	probably benign	Het
Map3k20	T	C	2: 72,198,763 (GRCm39)	M123T	probably damaging	Het
Nt5dc1	A	G	10: 34,200,365 (GRCm39)	L217P	probably damaging	Het
Nubp2	A	T	17: 25,104,577 (GRCm39)	D54E	probably damaging	Het
Onecut1	C	T	9: 74,770,497 (GRCm39)	R307C	probably damaging	Het
Or5b116	T	A	19: 13,422,989 (GRCm39)	D204E	probably benign	Het
Pcdhb17	A	G	18: 37,618,720 (GRCm39)	Y170C	probably damaging	Het
Pkd2	T	A	5: 104,637,159 (GRCm39)	C591S	probably damaging	Het
Pramel15	T	C	4: 144,103,409 (GRCm39)	N239S	probably benign	Het
Pwp2	A	T	10: 78,012,961 (GRCm39)	V549E	probably damaging	Het
Rapsn	A	T	2: 90,866,973 (GRCm39)	S92C	probably damaging	Het
Rbm19	A	G	5: 120,257,745 (GRCm39)	S90G	probably damaging	Het
Rfc1	G	A	5: 65,431,158 (GRCm39)		probably null	Het
Rims2	T	A	15: 39,381,208 (GRCm39)	F1046L	probably benign	Het
S100a16	C	T	3: 90,449,735 (GRCm39)	R73C	probably benign	Het
Shroom3	T	C	5: 93,089,928 (GRCm39)	Y893H	possibly damaging	Het
Stt3b	T	A	9: 115,096,388 (GRCm39)	Y253F	possibly damaging	Het
Taar8b	A	G	10: 23,967,160 (GRCm39)	*345Q	probably null	Het
Tas2r119	G	A	15: 32,177,676 (GRCm39)	V81I	probably benign	Het
Tas2r129	A	G	6: 132,928,128 (GRCm39)	I22V	probably benign	Het
Tbc1d19	T	G	5: 54,046,555 (GRCm39)		probably null	Het
Tnip3	A	T	6: 65,582,846 (GRCm39)	I218F	probably benign	Het
Tnks	A	T	8: 35,307,120 (GRCm39)		probably null	Het
Ttc29	T	C	8: 79,008,963 (GRCm39)	Y278H	possibly damaging	Het
Uba7	T	A	9: 107,854,213 (GRCm39)	C214*	probably null	Het
Vmn2r115	A	T	17: 23,578,572 (GRCm39)	I682F	probably benign	Het
Vmn2r75	A	T	7: 85,813,287 (GRCm39)	M505K	probably benign	Het
Wdr19	A	T	5: 65,415,466 (GRCm39)	T1313S	probably benign	Het
Zbtb22	A	G	17: 34,136,224 (GRCm39)	D123G	probably damaging	Het
Zdhhc7	A	G	8: 120,813,395 (GRCm39)	I138T	probably benign	Het
Zfp706	T	C	15: 37,004,045 (GRCm39)	K7R	unknown	Het
Zkscan3	G	A	13: 21,572,075 (GRCm39)	P519L	probably damaging	Het

Other mutations in Tut7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Tut7	APN	13	59,964,512 (GRCm39)	missense	probably damaging	1.00
IGL01361:Tut7	APN	13	59,933,614 (GRCm39)	missense	probably damaging	1.00
IGL02002:Tut7	APN	13	59,929,910 (GRCm39)	missense	possibly damaging	0.76
IGL02015:Tut7	APN	13	59,937,072 (GRCm39)	missense	probably damaging	1.00
IGL02029:Tut7	APN	13	59,932,702 (GRCm39)	unclassified	probably benign
IGL02216:Tut7	APN	13	59,948,237 (GRCm39)	missense	probably benign	0.01
IGL02705:Tut7	APN	13	59,937,017 (GRCm39)	missense	probably damaging	1.00
IGL02742:Tut7	APN	13	59,964,156 (GRCm39)	missense	probably damaging	0.99
IGL02810:Tut7	APN	13	59,929,830 (GRCm39)	critical splice donor site	probably null
IGL02942:Tut7	APN	13	59,959,335 (GRCm39)	missense	probably damaging	0.98
IGL03104:Tut7	APN	13	59,962,717 (GRCm39)	missense	probably benign	0.04
R0025:Tut7	UTSW	13	59,953,142 (GRCm39)	missense	probably benign	0.08
R0025:Tut7	UTSW	13	59,953,142 (GRCm39)	missense	probably benign	0.08
R0153:Tut7	UTSW	13	59,930,150 (GRCm39)	nonsense	probably null
R0269:Tut7	UTSW	13	59,964,669 (GRCm39)	splice site	probably null
R0358:Tut7	UTSW	13	59,929,918 (GRCm39)	missense	probably damaging	0.99
R0555:Tut7	UTSW	13	59,948,131 (GRCm39)	missense	probably benign	0.00
R0599:Tut7	UTSW	13	59,957,301 (GRCm39)	missense	probably damaging	1.00
R0609:Tut7	UTSW	13	59,947,596 (GRCm39)	nonsense	probably null
R0617:Tut7	UTSW	13	59,964,669 (GRCm39)	splice site	probably null
R0680:Tut7	UTSW	13	59,948,413 (GRCm39)	missense	possibly damaging	0.79
R0699:Tut7	UTSW	13	59,929,828 (GRCm39)	splice site	probably benign
R1214:Tut7	UTSW	13	59,953,140 (GRCm39)	missense	possibly damaging	0.76
R1271:Tut7	UTSW	13	59,969,669 (GRCm39)	missense	probably damaging	0.99
R1556:Tut7	UTSW	13	59,948,054 (GRCm39)	missense	probably benign	0.02
R1662:Tut7	UTSW	13	59,947,717 (GRCm39)	missense	possibly damaging	0.93
R1777:Tut7	UTSW	13	59,939,635 (GRCm39)	missense	probably damaging	1.00
R1834:Tut7	UTSW	13	59,962,749 (GRCm39)	nonsense	probably null
R1928:Tut7	UTSW	13	59,964,548 (GRCm39)	missense	probably damaging	1.00
R2012:Tut7	UTSW	13	59,959,352 (GRCm39)	missense	probably damaging	0.99
R2045:Tut7	UTSW	13	59,948,470 (GRCm39)	missense	probably damaging	1.00
R2336:Tut7	UTSW	13	59,946,868 (GRCm39)	missense	probably damaging	1.00
R3764:Tut7	UTSW	13	59,948,194 (GRCm39)	missense	probably damaging	0.98
R3899:Tut7	UTSW	13	59,937,069 (GRCm39)	nonsense	probably null
R3918:Tut7	UTSW	13	59,929,838 (GRCm39)	missense	probably damaging	1.00
R4423:Tut7	UTSW	13	59,969,863 (GRCm39)	missense	probably damaging	0.96
R4664:Tut7	UTSW	13	59,948,413 (GRCm39)	missense	possibly damaging	0.79
R4673:Tut7	UTSW	13	59,944,659 (GRCm39)	missense	probably damaging	1.00
R4770:Tut7	UTSW	13	59,920,698 (GRCm39)	unclassified	probably benign
R4884:Tut7	UTSW	13	59,937,266 (GRCm39)	missense	probably damaging	1.00
R5186:Tut7	UTSW	13	59,964,470 (GRCm39)	critical splice donor site	probably null
R5337:Tut7	UTSW	13	59,939,666 (GRCm39)	missense	probably damaging	1.00
R5385:Tut7	UTSW	13	59,937,660 (GRCm39)	critical splice donor site	probably null
R5452:Tut7	UTSW	13	59,948,471 (GRCm39)	missense	probably damaging	1.00
R5534:Tut7	UTSW	13	59,936,367 (GRCm39)	missense	probably damaging	1.00
R5566:Tut7	UTSW	13	59,936,443 (GRCm39)	nonsense	probably null
R5928:Tut7	UTSW	13	59,969,880 (GRCm39)	missense	probably benign	0.16
R5994:Tut7	UTSW	13	59,937,023 (GRCm39)	missense	probably damaging	1.00
R6415:Tut7	UTSW	13	59,964,110 (GRCm39)	splice site	probably null
R6577:Tut7	UTSW	13	59,955,975 (GRCm39)	missense	probably damaging	1.00
R7205:Tut7	UTSW	13	59,936,364 (GRCm39)	missense	probably damaging	1.00
R7286:Tut7	UTSW	13	59,969,463 (GRCm39)	missense	probably benign	0.18
R7355:Tut7	UTSW	13	59,969,616 (GRCm39)	missense	probably benign	0.00
R7369:Tut7	UTSW	13	59,929,867 (GRCm39)	missense	possibly damaging	0.71
R7455:Tut7	UTSW	13	59,969,871 (GRCm39)	missense	probably benign	0.03
R7557:Tut7	UTSW	13	59,936,280 (GRCm39)	missense	possibly damaging	0.89
R7635:Tut7	UTSW	13	59,947,904 (GRCm39)	missense	probably benign	0.03
R7727:Tut7	UTSW	13	59,947,496 (GRCm39)	missense	probably benign	0.00
R7798:Tut7	UTSW	13	59,963,389 (GRCm39)	missense	possibly damaging	0.81
R7912:Tut7	UTSW	13	59,946,819 (GRCm39)	missense	probably damaging	1.00
R7915:Tut7	UTSW	13	59,932,628 (GRCm39)	missense	probably benign	0.12
R8035:Tut7	UTSW	13	59,937,004 (GRCm39)	missense	probably benign	0.00
R8531:Tut7	UTSW	13	59,937,074 (GRCm39)	missense	probably damaging	1.00
R8777:Tut7	UTSW	13	59,933,597 (GRCm39)	missense	probably benign	0.15
R8777-TAIL:Tut7	UTSW	13	59,933,597 (GRCm39)	missense	probably benign	0.15
R8850:Tut7	UTSW	13	59,937,011 (GRCm39)	missense	possibly damaging	0.83
R8929:Tut7	UTSW	13	59,947,942 (GRCm39)	missense	probably benign
R9254:Tut7	UTSW	13	59,936,288 (GRCm39)	missense	possibly damaging	0.48
R9313:Tut7	UTSW	13	59,947,798 (GRCm39)	missense	probably benign	0.01
R9373:Tut7	UTSW	13	59,944,681 (GRCm39)	missense	probably damaging	1.00
R9379:Tut7	UTSW	13	59,936,288 (GRCm39)	missense	possibly damaging	0.48
R9404:Tut7	UTSW	13	59,947,701 (GRCm39)	missense	probably benign	0.00
R9461:Tut7	UTSW	13	59,963,512 (GRCm39)	missense	probably damaging	1.00
R9462:Tut7	UTSW	13	59,929,957 (GRCm39)	missense	possibly damaging	0.89
R9661:Tut7	UTSW	13	59,937,332 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTATGAGCAGAGTCCCAC -3'
(R):5'- TGCAGGCAGACAACACTCTG -3'

Sequencing Primer
(F):5'- AGAGTCCCACCCACGTTTTC -3'
(R):5'- CAACACTCTGGAGTTAGTAGCTG -3'

Posted On

2018-06-06