Mutagenetix > Incidental Mutation

Incidental Mutation 'T0722:Tent4a'

67350

Institutional Source

Beutler Lab

Gene Symbol

Tent4a

Ensembl Gene

ENSMUSG00000034575

Gene Name

terminal nucleotidyltransferase 4A

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

T0722 (G3) of strain 711

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69646071-69682710 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 69655074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 224 (R224*)

Ref Sequence

ENSEMBL: ENSMUSP00000152244 (fasta)

Gene Model

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

AlphaFold

Q6PB75

Predicted Effect

probably null
Transcript: ENSMUST00000044081
AA Change: R224*

SMART Domains

Protein: ENSMUSP00000040757
Gene: ENSMUSG00000034575
AA Change: R224*

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 null
Transcript: ENSMUST00000198607
AA Change: R467*

SMART Domains

Protein: ENSMUSP00000142516
Gene: ENSMUSG00000034575
AA Change: R467*

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 null
Transcript: ENSMUST00000223344
AA Change: R224*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

95% (42/44)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,453,197 (GRCm39)	T5A	possibly damaging	Het
Adam6b	T	A	12: 113,454,888 (GRCm39)	D568E	probably benign	Het
Ago3	C	T	4: 126,298,056 (GRCm39)	V155I	probably benign	Het
Ago3	G	A	4: 126,298,103 (GRCm39)	A139V	probably benign	Het
Ago3	C	T	4: 126,298,098 (GRCm39)	A141T	probably benign	Het
Ago3	T	G	4: 126,298,089 (GRCm39)	T144P	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 132,790,065 (GRCm39)		probably benign	Het
Atp6v1g3	T	A	1: 138,201,591 (GRCm39)		probably benign	Het
Azin2	A	G	4: 128,839,927 (GRCm39)	Y222H	probably benign	Het
Bicd2	C	A	13: 49,533,127 (GRCm39)	P571Q	probably benign	Het
Camta2	A	G	11: 70,574,831 (GRCm39)	I75T	probably damaging	Het
Casp1	A	T	9: 5,299,851 (GRCm39)	H108L	probably benign	Het
Cdk5r1	G	T	11: 80,368,707 (GRCm39)	V125F	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 73,215,878 (GRCm39)		probably benign	Het
Cngb1	A	G	8: 96,023,278 (GRCm39)	M240T	probably benign	Het
Cngb1	G	A	8: 96,030,342 (GRCm39)		probably benign	Het
Cngb1	T	C	8: 96,030,324 (GRCm39)		probably benign	Het
Cngb1	G	T	8: 96,024,447 (GRCm39)	Q205K	probably damaging	Het
Cog8	G	T	8: 107,775,625 (GRCm39)	L580I	probably benign	Het
Copa	A	G	1: 171,939,515 (GRCm39)	E593G	possibly damaging	Het
Ctrc	T	TA	4: 141,572,507 (GRCm39)		probably null	Het
Cwf19l2	T	C	9: 3,456,755 (GRCm39)	F696S	probably benign	Het
Ddi2	G	A	4: 141,440,784 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,807,841 (GRCm39)	D984G	probably null	Het
Fam135b	T	G	15: 71,335,734 (GRCm39)	T487P	probably damaging	Het
Fstl3	A	G	10: 79,615,997 (GRCm39)	Y161C	probably damaging	Het
Gja4	G	C	4: 127,206,024 (GRCm39)	H246Q	probably benign	Het
Gm8186	C	T	17: 26,318,101 (GRCm39)	R32Q	probably benign	Het
Jakmip1	C	A	5: 37,276,247 (GRCm39)	A519D	probably damaging	Het
Jcad	G	T	18: 4,675,531 (GRCm39)	A1098S	probably benign	Het
Klhl14	T	C	18: 21,691,192 (GRCm39)	Y446C	probably damaging	Het
Lims1	A	G	10: 58,254,277 (GRCm39)	N344D	probably benign	Het
Marco	A	T	1: 120,402,441 (GRCm39)	W502R	probably damaging	Het
Mmp13	G	T	9: 7,280,857 (GRCm39)	M413I	possibly damaging	Het
Mmp25	G	A	17: 23,850,192 (GRCm39)	A456V	possibly damaging	Het
Msi2	A	T	11: 88,285,423 (GRCm39)	M207K	probably damaging	Het
Myh8	G	A	11: 67,195,262 (GRCm39)	R1692Q	probably benign	Het
Nbas	A	G	12: 13,402,809 (GRCm39)	I788V	probably benign	Het
Nup188	A	G	2: 30,212,693 (GRCm39)	D632G	probably damaging	Het
Opa1	T	C	16: 29,429,748 (GRCm39)		probably null	Het
Or12k7	T	G	2: 36,958,449 (GRCm39)	L44R	probably damaging	Het
Or1n2	T	C	2: 36,797,582 (GRCm39)	V208A	probably benign	Het
Or4c114	A	G	2: 88,905,303 (GRCm39)	V44A	probably benign	Het
Or5w17	T	A	2: 87,583,467 (GRCm39)	Y290F	probably damaging	Het
Pabpc1l	G	A	2: 163,884,340 (GRCm39)	G359D	possibly damaging	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,359,292 (GRCm39)		probably benign	Het
Pomgnt1	C	T	4: 115,994,624 (GRCm39)		probably benign	Het
Psma5-ps	A	G	10: 85,149,457 (GRCm39)		noncoding transcript	Het
Qser1	A	G	2: 104,617,177 (GRCm39)	C1122R	possibly damaging	Het
Rfx8	A	G	1: 39,722,772 (GRCm39)	S282P	probably damaging	Het
Sec14l2	C	T	11: 4,053,673 (GRCm39)		probably null	Het
Sim2	C	A	16: 93,910,281 (GRCm39)	H228N	probably benign	Het
Slc15a2	A	G	16: 36,772,445 (GRCm38)	M179T	probably benign	Het
Slc30a6	T	A	17: 74,719,319 (GRCm39)		probably null	Het
Smarcc1	G	A	9: 110,035,153 (GRCm39)	E859K	possibly damaging	Het
Snx1	CTT	CTTGTT	9: 66,012,209 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,201,664 (GRCm39)	V2321A	probably benign	Het
Spta1	A	G	1: 174,018,632 (GRCm39)		probably benign	Het
Sytl1	C	A	4: 132,984,162 (GRCm39)		probably benign	Het
Sytl1	A	G	4: 132,984,164 (GRCm39)		probably benign	Het
Terf2	T	C	8: 107,803,306 (GRCm39)	K425E	probably benign	Het
Tmem26	A	G	10: 68,614,548 (GRCm39)	E321G	probably benign	Het
Toe1	T	C	4: 116,663,290 (GRCm39)	I62M	probably benign	Het
Uck2	A	T	1: 167,062,280 (GRCm39)	D149E	probably benign	Het
Wnt5a	G	A	14: 28,233,882 (GRCm39)	A17T	probably benign	Het
Yif1b	T	C	7: 28,938,038 (GRCm39)		probably null	Het
Zbtb8a	T	C	4: 129,254,005 (GRCm39)	H163R	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,253,812 (GRCm39)		probably benign	Het
Zkscan4	AGAGGAG	AGAG	13: 21,663,370 (GRCm39)		probably benign	Het
Zmym1	A	C	4: 126,943,466 (GRCm39)	H307Q	probably benign	Het
Zmym1	C	T	4: 126,941,740 (GRCm39)	D785N	probably benign	Het
Zmym1	C	T	4: 126,942,043 (GRCm39)	V684I	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
R8124:Tent4a	UTSW	13	69,681,716 (GRCm39)	unclassified	probably benign
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
Z1177:Tent4a	UTSW	13	69,651,753 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCAAGAGCAACATTTGCAGTGAC -3'
(R):5'- ATCCAAGAATCGATGCCCGGAGAG -3'

Sequencing Primer
(F):5'- ATGCTTCCTTCCTGAAGTGAATG -3'
(R):5'- ATGCCCGGAGAGCTGATG -3'

Posted On

2013-09-03