Mutagenetix > Incidental Mutation

Incidental Mutation 'R7557:Tut7'

584853

Institutional Source

Beutler Lab

Gene Symbol

Tut7

Ensembl Gene

ENSMUSG00000035248

Gene Name

terminal uridylyl transferase 7

Synonyms

Zcchc6, Tent3b, 6030448M23Rik

MMRRC Submission

045652-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.761) question?

Stock #

R7557 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59919690-59971060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59936280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1274 (I1274V)

Ref Sequence

ENSEMBL: ENSMUSP00000071623 (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: I1274V

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: I1274V

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: I872V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,044 (GRCm39)	Q1078*	probably null	Het
Aatk	T	C	11: 119,900,256 (GRCm39)	K1310R	possibly damaging	Het
Acaa2	C	T	18: 74,928,230 (GRCm39)	T153M	possibly damaging	Het
Add3	A	G	19: 53,227,868 (GRCm39)	T518A	probably damaging	Het
Cacnb4	T	C	2: 52,359,579 (GRCm39)	E143G	probably damaging	Het
Cd209a	T	A	8: 3,795,541 (GRCm39)	T177S	probably benign	Het
Chp1	T	A	2: 119,391,238 (GRCm39)	Y32N	probably damaging	Het
Clcn3	T	C	8: 61,390,402 (GRCm39)	T180A	probably damaging	Het
Dctn2	C	A	10: 127,114,273 (GRCm39)	T373N	probably benign	Het
Dipk2a	T	C	9: 94,402,591 (GRCm39)	D357G	probably damaging	Het
Ecpas	A	G	4: 58,849,691 (GRCm39)	Y483H	possibly damaging	Het
Emb	T	A	13: 117,386,252 (GRCm39)	N136K	probably benign	Het
Enpp2	A	T	15: 54,773,536 (GRCm39)	C62S	probably damaging	Het
Fbxo28	G	T	1: 182,169,000 (GRCm39)	A52E	unknown	Het
Gask1b	A	T	3: 79,793,915 (GRCm39)	K128*	probably null	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Ggta1	T	C	2: 35,292,548 (GRCm39)	D253G	probably damaging	Het
Gps1	C	T	11: 120,677,193 (GRCm39)	A164V	probably benign	Het
Gramd4	C	T	15: 85,985,101 (GRCm39)	Q146*	probably null	Het
Kcnh5	A	T	12: 75,054,399 (GRCm39)	M515K	possibly damaging	Het
Klrc3	T	C	6: 129,616,107 (GRCm39)	T203A	probably damaging	Het
Krt26	G	T	11: 99,225,567 (GRCm39)	R305S	probably damaging	Het
Lpin1	A	G	12: 16,630,793 (GRCm39)	V35A		Het
Marf1	C	T	16: 13,950,560 (GRCm39)	R942H	probably damaging	Het
Mfhas1	T	A	8: 36,056,758 (GRCm39)	M411K	possibly damaging	Het
Mok	A	G	12: 110,774,833 (GRCm39)	S330P	probably benign	Het
Msto1	A	G	3: 88,817,435 (GRCm39)		probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or10w1	T	A	19: 13,632,390 (GRCm39)	I199N	possibly damaging	Het
Pcdhgb4	T	A	18: 37,855,847 (GRCm39)	C747*	probably null	Het
Pih1d1	A	G	7: 44,806,183 (GRCm39)	T40A	probably benign	Het
Pih1d2	A	T	9: 50,536,216 (GRCm39)	E290D	probably damaging	Het
Plce1	A	G	19: 38,753,848 (GRCm39)	K1849E	probably benign	Het
Plekha5	T	C	6: 140,372,271 (GRCm39)	Y74H	probably damaging	Het
Pole	T	G	5: 110,460,860 (GRCm39)	I1183S	probably damaging	Het
Ptgs1	T	C	2: 36,135,223 (GRCm39)	S396P	possibly damaging	Het
Rasa2	T	C	9: 96,439,478 (GRCm39)	E575G	probably damaging	Het
Sec22b	A	G	3: 97,808,674 (GRCm39)	T5A	probably damaging	Het
Slc18a1	T	A	8: 69,518,213 (GRCm39)	D267V	probably damaging	Het
Smad5	T	C	13: 56,875,282 (GRCm39)	F157L	probably benign	Het
Tcea1	T	A	1: 4,965,213 (GRCm39)	C294*	probably null	Het
Txndc15	T	A	13: 55,865,767 (GRCm39)	M77K	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,475 (GRCm39)	V377D	probably damaging	Het
Vmn2r7	A	G	3: 64,632,394 (GRCm39)	Y23H	probably benign	Het
Vwa3a	T	A	7: 120,394,841 (GRCm39)	M887K	possibly damaging	Het
Zbtb5	T	C	4: 44,995,196 (GRCm39)	N63D	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
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
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'- GAAGACTTTGGACCTGTGAAAG -3'
(R):5'- CCCACTTGTTGGCCAGAATATG -3'

Sequencing Primer
(F):5'- CTGGAGGCACTAGTCACTTAAAACG -3'
(R):5'- TATGGGAAAAATACAGAACCTGTCG -3'

Posted On

2019-10-17