Mutagenetix > Incidental Mutation

Incidental Mutation 'R8124:Tent4a'

631658

Institutional Source

Beutler Lab

Gene Symbol

Tent4a

Ensembl Gene

ENSMUSG00000034575

Gene Name

terminal nucleotidyltransferase 4A

Synonyms

TRF4, Pols, TRF4-1, Papd7, LAK-1

MMRRC Submission

067553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R8124 (G1)

Quality Score

101.008

Status

Not validated

Chromosome

Chromosomal Location

69646071-69682710 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 69681716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044081] [ENSMUST00000143716] [ENSMUST00000198607] [ENSMUST00000223344]

AlphaFold

Q6PB75

Predicted Effect

probably benign
Transcript: ENSMUST00000044081

SMART Domains

Protein: ENSMUSP00000040757
Gene: ENSMUSG00000034575

Domain	Start	End	E-Value	Type
Pfam:NTP_transf_2	15	124	4.1e-20	PFAM
Pfam:PAP_assoc	178	238	5.4e-19	PFAM
low complexity region	343	368	N/A	INTRINSIC
low complexity region	496	505	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143716

Predicted Effect

silent
Transcript: ENSMUST00000198607

SMART Domains

Protein: ENSMUSP00000142516
Gene: ENSMUSG00000034575

Domain	Start	End	E-Value	Type
low complexity region	46	98	N/A	INTRINSIC
low complexity region	106	118	N/A	INTRINSIC
low complexity region	122	145	N/A	INTRINSIC
low complexity region	206	220	N/A	INTRINSIC
Pfam:NTP_transf_2	258	368	1.6e-14	PFAM
Pfam:PAP_assoc	421	481	8.3e-16	PFAM
low complexity region	586	611	N/A	INTRINSIC
low complexity region	739	748	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223344

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.5%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]

Allele List at MGI

All alleles(5) : Targeted(4) Gene trapped(1)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap3	T	A	5: 24,683,128 (GRCm39)	I320N	probably benign	Het
Ahnak	G	A	19: 8,984,487 (GRCm39)	G1924S	probably damaging	Het
Ap2a2	G	A	7: 141,178,757 (GRCm39)	R141H	probably benign	Het
Atf7ip2	T	C	16: 10,026,999 (GRCm39)	V89A	possibly damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Csnk2a2	G	A	8: 96,182,575 (GRCm39)	P296L		Het
Dab2	T	A	15: 6,458,878 (GRCm39)	C263*	probably null	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Ddx60	C	T	8: 62,436,945 (GRCm39)	A965V	probably benign	Het
Dennd5a	A	T	7: 109,497,142 (GRCm39)	I1119N	probably damaging	Het
Dpy30	A	G	17: 74,623,099 (GRCm39)		probably benign	Het
Epg5	G	A	18: 78,008,211 (GRCm39)	A780T	probably benign	Het
Etl4	A	G	2: 20,811,451 (GRCm39)	D1546G	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
F13a1	T	C	13: 37,209,779 (GRCm39)	K62R	probably damaging	Het
Gm2832	T	C	14: 41,000,894 (GRCm39)	M44T		Het
Gm9195	T	C	14: 72,680,063 (GRCm39)	I2249V	probably benign	Het
Hmcn2	T	C	2: 31,290,136 (GRCm39)	V2323A	probably benign	Het
Ice2	T	A	9: 69,307,777 (GRCm39)	N20K	probably damaging	Het
Klf15	T	C	6: 90,443,863 (GRCm39)	F146S	probably damaging	Het
Lgi3	A	G	14: 70,772,178 (GRCm39)	Y241C	probably damaging	Het
Lig4	A	T	8: 10,022,954 (GRCm39)	D275E	probably damaging	Het
Lrit1	T	A	14: 36,784,005 (GRCm39)	S444R	probably benign	Het
Lrrc37	A	G	11: 103,511,257 (GRCm39)	V237A	unknown	Het
Mip	T	C	10: 128,062,070 (GRCm39)	V107A	possibly damaging	Het
Mtrex	A	C	13: 113,063,871 (GRCm39)	D7E	probably benign	Het
Myo15a	G	A	11: 60,398,279 (GRCm39)	V1581M		Het
Nckap1l	A	G	15: 103,382,248 (GRCm39)	D481G	possibly damaging	Het
Obox3	A	T	7: 15,323,874 (GRCm39)		probably null	Het
Or11h4	C	T	14: 50,973,743 (GRCm39)	R292H	probably benign	Het
Or2d3	G	A	7: 106,491,088 (GRCm39)	T76I	possibly damaging	Het
Or5a21	T	A	19: 12,310,834 (GRCm39)	N129Y	probably damaging	Het
Or5p1	C	A	7: 107,916,984 (GRCm39)	N294K	possibly damaging	Het
Or8g27	T	C	9: 39,128,967 (GRCm39)	F105L	probably benign	Het
Pilrb2	T	A	5: 137,869,306 (GRCm39)	E98V	probably damaging	Het
Plekhm1	A	G	11: 103,257,775 (GRCm39)	V1053A	probably benign	Het
Prdm2	A	T	4: 142,861,835 (GRCm39)	V485E	probably damaging	Het
Riox2	G	A	16: 59,306,954 (GRCm39)	E282K	probably benign	Het
Rps6ka2	T	A	17: 7,549,228 (GRCm39)	V379E	possibly damaging	Het
Slc4a7	G	A	14: 14,729,211 (GRCm38)	E20K	possibly damaging	Het
Sned1	G	A	1: 93,210,711 (GRCm39)		probably null	Het
Spata3	C	T	1: 85,952,075 (GRCm39)	R110C	unknown	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tmem132d	T	C	5: 127,869,624 (GRCm39)	Q570R	probably damaging	Het
Tmem87a	T	C	2: 120,222,676 (GRCm39)	T168A	probably benign	Het
Trank1	A	G	9: 111,207,995 (GRCm39)	R1747G	probably benign	Het
Txk	C	T	5: 72,860,606 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,852,373 (GRCm39)	L862F	possibly damaging	Het
Wdr64	A	T	1: 175,626,844 (GRCm39)		probably null	Het
Zfp106	G	T	2: 120,354,812 (GRCm39)	Q1343K	probably benign	Het
Zfp719	A	G	7: 43,239,314 (GRCm39)	T301A	probably benign	Het

Other mutations in Tent4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Tent4a	APN	13	69,648,678 (GRCm39)	missense	probably benign	0.02
IGL02690:Tent4a	APN	13	69,658,744 (GRCm39)	missense	probably benign	0.01
IGL03047:Tent4a	UTSW	13	69,651,030 (GRCm39)	missense	probably damaging	1.00
P0027:Tent4a	UTSW	13	69,655,074 (GRCm39)	nonsense	probably null
R0309:Tent4a	UTSW	13	69,648,051 (GRCm39)	missense	possibly damaging	0.95
R1713:Tent4a	UTSW	13	69,651,170 (GRCm39)	missense	probably benign	0.10
R2936:Tent4a	UTSW	13	69,650,446 (GRCm39)	missense	possibly damaging	0.82
R3809:Tent4a	UTSW	13	69,661,115 (GRCm39)	missense	probably damaging	0.98
R4927:Tent4a	UTSW	13	69,651,019 (GRCm39)	splice site	probably null
R6419:Tent4a	UTSW	13	69,658,785 (GRCm39)	missense	possibly damaging	0.91
R7011:Tent4a	UTSW	13	69,648,199 (GRCm39)	missense	probably damaging	1.00
R7505:Tent4a	UTSW	13	69,655,047 (GRCm39)	missense	probably damaging	1.00
R7547:Tent4a	UTSW	13	69,681,823 (GRCm39)	missense	probably benign	0.04
R7554:Tent4a	UTSW	13	69,648,191 (GRCm39)	missense	probably damaging	1.00
R8040:Tent4a	UTSW	13	69,648,600 (GRCm39)	missense	probably damaging	0.99
R8777:Tent4a	UTSW	13	69,658,824 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Tent4a	UTSW	13	69,658,824 (GRCm39)	missense	probably damaging	1.00
R8919:Tent4a	UTSW	13	69,651,828 (GRCm39)	missense	possibly damaging	0.83
R9175:Tent4a	UTSW	13	69,663,915 (GRCm39)	missense	probably damaging	1.00
R9517:Tent4a	UTSW	13	69,655,059 (GRCm39)	missense	probably damaging	1.00
R9624:Tent4a	UTSW	13	69,651,787 (GRCm39)	missense	probably damaging	1.00
R9688:Tent4a	UTSW	13	69,655,199 (GRCm39)	missense	probably damaging	1.00
RF027:Tent4a	UTSW	13	69,681,973 (GRCm39)	unclassified	probably benign
RF039:Tent4a	UTSW	13	69,681,973 (GRCm39)	unclassified	probably benign
T0722:Tent4a	UTSW	13	69,655,074 (GRCm39)	nonsense	probably null
Z1177:Tent4a	UTSW	13	69,651,753 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCACTTTCTAGTCTAGCCCTAGG -3'
(R):5'- CAAGACGCTTGCACAAGTCC -3'

Sequencing Primer
(F):5'- CTGCCTGGTGGATCTCGATC -3'
(R):5'- TTGCACAAGTCCCCGTCG -3'

Posted On

2020-06-30