Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02742:Tut7'

305934

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tut7

Ensembl Gene

ENSMUSG00000035248

Gene Name

terminal uridylyl transferase 7

Synonyms

Zcchc6, Tent3b, 6030448M23Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.761) question?

Stock #

IGL02742

Quality Score

Status

Chromosome

Chromosomal Location

59919690-59971060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59964156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 250 (D250N)

Ref Sequence

ENSEMBL: ENSMUSP00000071623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071703] [ENSMUST00000225576]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071703
AA Change: D250N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: D250N

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

probably benign
Transcript: ENSMUST00000225576

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 103,972,824 (GRCm39)	T506A	probably damaging	Het
Ankib1	A	C	5: 3,743,479 (GRCm39)	D845E	probably benign	Het
Atxn2	T	C	5: 121,919,399 (GRCm39)	V369A	possibly damaging	Het
Ccdc50	T	A	16: 27,225,534 (GRCm39)		probably benign	Het
Clec2g	A	G	6: 128,957,224 (GRCm39)	I61V	possibly damaging	Het
Col16a1	G	A	4: 129,955,172 (GRCm39)		probably benign	Het
Dapk2	A	G	9: 66,139,096 (GRCm39)	Y139C	probably damaging	Het
Ecpas	A	G	4: 58,840,757 (GRCm39)	V667A	probably damaging	Het
Fnip1	T	C	11: 54,384,177 (GRCm39)	L334P	probably damaging	Het
Igf1r	A	G	7: 67,839,739 (GRCm39)	E682G	possibly damaging	Het
Ints8	T	C	4: 11,241,627 (GRCm39)	E272G	possibly damaging	Het
Jph2	G	A	2: 163,217,699 (GRCm39)	P326S	probably damaging	Het
Krtap1-4	T	C	11: 99,473,940 (GRCm39)		probably benign	Het
Lrp5	A	G	19: 3,654,022 (GRCm39)	I1135T	probably damaging	Het
Lrrk1	A	G	7: 65,958,439 (GRCm39)	V320A	probably benign	Het
Myh6	A	C	14: 55,191,381 (GRCm39)	I820S	possibly damaging	Het
Napg	A	T	18: 63,119,319 (GRCm39)	T110S	probably damaging	Het
Nova1	G	A	12: 46,767,475 (GRCm39)	Q56*	probably null	Het
Phyhip	A	G	14: 70,699,367 (GRCm39)		probably null	Het
Pkd2l2	C	A	18: 34,549,970 (GRCm39)	S205*	probably null	Het
Ppp2r1a	G	T	17: 21,179,265 (GRCm39)	C101F	probably benign	Het
Serpinb3c	G	A	1: 107,200,872 (GRCm39)	R182*	probably null	Het
St18	A	C	1: 6,872,540 (GRCm39)		probably benign	Het
St6galnac4	C	T	2: 32,487,096 (GRCm39)	R264C	possibly damaging	Het
Tmem168	T	C	6: 13,603,261 (GRCm39)	Y35C	probably benign	Het
Tmem219	A	G	7: 126,496,220 (GRCm39)	L74P	probably damaging	Het
Trpc4	T	A	3: 54,206,667 (GRCm39)	N622K	probably damaging	Het
Trpm6	A	C	19: 18,807,376 (GRCm39)		probably benign	Het
Ttl	C	A	2: 128,908,213 (GRCm39)	F49L	possibly damaging	Het
Vmn1r123	A	T	7: 20,896,968 (GRCm39)	I287F	possibly damaging	Het
Vmn2r97	T	G	17: 19,149,432 (GRCm39)	I273M	probably damaging	Het
Wdr5	C	A	2: 27,410,437 (GRCm39)		probably benign	Het
Zfp37	C	A	4: 62,110,548 (GRCm39)	C172F	possibly 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
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
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

Posted On

2015-04-16