Mutagenetix > Incidental Mutation

Incidental Mutation 'R3918:Tut7'

307516

Institutional Source

Beutler Lab

Gene Symbol

Tut7

Ensembl Gene

ENSMUSG00000035248

Gene Name

terminal uridylyl transferase 7

Synonyms

Zcchc6, Tent3b, 6030448M23Rik

MMRRC Submission

040816-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.796) question?

Stock #

R3918 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59919690-59971060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59929838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1066 (S1066P)

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: S1468P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: S1468P

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

noncoding transcript
Transcript: ENSMUST00000224320

Predicted Effect

probably damaging
Transcript: ENSMUST00000224480
AA Change: S1066P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224845

Predicted Effect

unknown
Transcript: ENSMUST00000225581
AA Change: S74P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226102

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	C	8: 111,766,774 (GRCm39)	I52T	probably damaging	Het
Adhfe1	G	A	1: 9,646,441 (GRCm39)	R447H	probably damaging	Het
Ak7	A	G	12: 105,676,515 (GRCm39)	K72E	probably benign	Het
Best2	T	G	8: 85,736,353 (GRCm39)	D270A	probably damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Col18a1	T	C	10: 76,889,192 (GRCm39)	M1721V	probably benign	Het
Ctnnal1	T	C	4: 56,865,000 (GRCm39)	T39A	possibly damaging	Het
Dnah9	T	A	11: 65,761,800 (GRCm39)	M3897L	possibly damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Egf	T	C	3: 129,490,509 (GRCm39)	I395V	probably null	Het
Fbln5	C	T	12: 101,717,050 (GRCm39)	G446D	probably damaging	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Hmcn1	G	C	1: 150,566,361 (GRCm39)	T2214S	probably benign	Het
Lef1	A	G	3: 130,905,290 (GRCm39)	N57S	probably damaging	Het
Lpin1	A	G	12: 16,621,190 (GRCm39)	S266P	probably benign	Het
Marveld2	T	C	13: 100,748,401 (GRCm39)	Q226R	probably benign	Het
Mest	G	A	6: 30,742,749 (GRCm39)	S132N	probably benign	Het
Mras	T	A	9: 99,293,473 (GRCm39)	I56F	probably damaging	Het
Myh13	G	A	11: 67,220,064 (GRCm39)	E138K	probably benign	Het
Nsun2	A	G	13: 69,778,799 (GRCm39)	T516A	probably damaging	Het
Ola1	A	G	2: 72,972,683 (GRCm39)	V200A	probably benign	Het
Or5ak24	A	T	2: 85,261,074 (GRCm39)	V33D	possibly damaging	Het
Patj	C	A	4: 98,344,455 (GRCm39)	P20H	probably damaging	Het
Pcdhb12	T	A	18: 37,570,101 (GRCm39)	W416R	probably benign	Het
Pcdhga9	G	A	18: 37,871,995 (GRCm39)	R608H	probably benign	Het
Pola1	C	A	X: 92,505,078 (GRCm39)	R1313L	probably benign	Het
Ppp1r36	G	A	12: 76,464,431 (GRCm39)	V10I	probably benign	Het
Rnf150	C	T	8: 83,591,090 (GRCm39)	T151I	probably benign	Het
Tank	G	T	2: 61,474,130 (GRCm39)		probably null	Het
Tmprss4	C	T	9: 45,091,964 (GRCm39)	V174M	probably benign	Het
Trappc13	T	C	13: 104,297,590 (GRCm39)	T105A	probably damaging	Het
Txndc9	G	A	1: 38,033,131 (GRCm39)	Q84*	probably null	Het
Ubr3	A	T	2: 69,846,474 (GRCm39)		probably null	Het
Wfs1	C	A	5: 37,125,968 (GRCm39)	V308L	probably benign	Het
Zfp51	A	G	17: 21,683,702 (GRCm39)	K106E	probably benign	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
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
R6495:Tut7	UTSW	13	59,947,753 (GRCm39)	missense	possibly damaging	0.95
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'- ACTGGAGAGGAGACTAGCATTC -3'
(R):5'- AAGAAGATAAGCTCACACCGTG -3'

Sequencing Primer
(F):5'- TTTCATAAGGCTACCTAGACCCAGG -3'
(R):5'- CGTGTGCAGCTGCGAAAG -3'

Posted On

2015-04-17