Mutagenetix > Incidental Mutation

Incidental Mutation 'R8777:Tent4a'

664772

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

068720-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R8777 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69646071-69682710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69658824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 337 (D337V)

Ref Sequence

ENSEMBL: ENSMUSP00000142516 (fasta)

Gene Model

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

AlphaFold

Q6PB75

Predicted Effect

probably damaging
Transcript: ENSMUST00000044081
AA Change: D94V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040757
Gene: ENSMUSG00000034575
AA Change: D94V

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 damaging
Transcript: ENSMUST00000198607
AA Change: D337V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142516
Gene: ENSMUSG00000034575
AA Change: D337V

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 damaging
Transcript: ENSMUST00000223344
AA Change: D94V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,989,894 (GRCm39)	T816S	probably benign	Het
Aff4	G	A	11: 53,290,783 (GRCm39)	S581N	probably damaging	Het
Aimp2	G	A	5: 143,839,825 (GRCm39)	A253V	probably damaging	Het
Arl6ip4	T	G	5: 124,254,611 (GRCm39)	S35A	probably benign	Het
Atp1a4	A	T	1: 172,059,869 (GRCm39)	Y787N	probably damaging	Het
Btbd8	T	G	5: 107,658,293 (GRCm39)	I1621R	probably damaging	Het
Ccdc169	T	C	3: 55,058,334 (GRCm39)	S13P	probably damaging	Het
Ccdc186	G	A	19: 56,801,793 (GRCm39)	S108F	probably damaging	Het
Ccdc39	G	A	3: 33,893,282 (GRCm39)	T101I	probably benign	Het
Cdh13	G	T	8: 119,963,706 (GRCm39)		probably null	Het
Clec1b	A	T	6: 129,380,537 (GRCm39)	E151V	probably benign	Het
Cplx1	T	A	5: 108,673,435 (GRCm39)		probably null	Het
Diablo	T	A	5: 123,655,990 (GRCm39)	I150F	unknown	Het
Esp31	T	C	17: 38,955,582 (GRCm39)	V75A	probably benign	Het
Gm49336	G	A	14: 60,466,185 (GRCm39)	L458F	probably damaging	Het
Grin3b	A	T	10: 79,808,972 (GRCm39)	S241C	possibly damaging	Het
Gxylt2	A	G	6: 100,727,432 (GRCm39)	N182S	probably damaging	Het
Hephl1	T	G	9: 14,972,090 (GRCm39)	D950A	probably benign	Het
Hkdc1	A	G	10: 62,234,612 (GRCm39)	I556T	possibly damaging	Het
Ints4	C	A	7: 97,134,227 (GRCm39)	A53D	probably damaging	Het
Kmt5c	T	C	7: 4,745,712 (GRCm39)	V124A	possibly damaging	Het
Lrpprc	T	A	17: 85,058,657 (GRCm39)	Q734H	probably benign	Het
Map1b	T	C	13: 99,567,304 (GRCm39)	T1806A	unknown	Het
Mcmbp	A	T	7: 128,308,855 (GRCm39)	F389I	probably damaging	Het
Mcrs1	C	T	15: 99,141,237 (GRCm39)	G422S	probably damaging	Het
Mgam	A	G	6: 40,632,185 (GRCm39)	H173R	probably damaging	Het
Mib1	G	A	18: 10,747,422 (GRCm39)	G200S	probably benign	Het
Myh13	A	T	11: 67,252,161 (GRCm39)	Q1423L	possibly damaging	Het
Myh2	A	G	11: 67,083,398 (GRCm39)	R1454G	possibly damaging	Het
Mylk4	C	T	13: 32,913,089 (GRCm39)	V70I	probably benign	Het
Myof	A	G	19: 37,968,841 (GRCm39)	V358A	probably benign	Het
Ncor1	T	A	11: 62,324,494 (GRCm39)	H47L	probably damaging	Het
Ncor1	T	A	11: 62,324,492 (GRCm39)	I48F	probably benign	Het
Neurog2	G	T	3: 127,427,742 (GRCm39)	R122L	probably damaging	Het
Npdc1	T	A	2: 25,298,129 (GRCm39)	L193Q	probably damaging	Het
Nrxn3	A	G	12: 89,227,234 (GRCm39)	N290D	probably damaging	Het
Nynrin	T	C	14: 56,109,120 (GRCm39)	M1409T	probably benign	Het
Oas1h	T	C	5: 121,005,107 (GRCm39)	L185P	probably damaging	Het
Or10x4	A	T	1: 174,218,848 (GRCm39)	Y71F	probably damaging	Het
Or2z2	C	T	11: 58,346,757 (GRCm39)	W6*	probably null	Het
Or6c3	T	A	10: 129,309,374 (GRCm39)	V271E	possibly damaging	Het
Osbpl8	T	A	10: 111,128,974 (GRCm39)	N853K	probably benign	Het
Pcsk4	G	T	10: 80,159,557 (GRCm39)	P405Q	probably benign	Het
Piwil4	A	C	9: 14,650,685 (GRCm39)		probably null	Het
Pkhd1l1	T	C	15: 44,361,967 (GRCm39)	Y547H	probably damaging	Het
Pramel40	A	G	5: 94,465,027 (GRCm39)	D471G	probably benign	Het
Rft1	T	C	14: 30,382,156 (GRCm39)	L51P	probably damaging	Het
Rufy2	T	G	10: 62,833,660 (GRCm39)	L241V	possibly damaging	Het
Slc5a5	T	C	8: 71,343,934 (GRCm39)	I155V	possibly damaging	Het
Slc7a2	T	G	8: 41,351,991 (GRCm39)	M18R	probably damaging	Het
Snapc4	A	G	2: 26,259,375 (GRCm39)	S592P	probably benign	Het
Strn4	T	C	7: 16,550,533 (GRCm39)	W86R	probably damaging	Het
Tenm4	A	G	7: 96,545,244 (GRCm39)	N2457S	probably damaging	Het
Timd4	C	A	11: 46,706,309 (GRCm39)	T37N	possibly damaging	Het
Tmem268	T	A	4: 63,496,076 (GRCm39)	N172K	probably damaging	Het
Trrap	T	A	5: 144,773,949 (GRCm39)	V2855D	probably benign	Het
Tubb6	A	T	18: 67,534,598 (GRCm39)	T166S	probably damaging	Het
Tufm	A	G	7: 126,088,034 (GRCm39)	Y179C	probably benign	Het
Tut7	T	C	13: 59,933,597 (GRCm39)	N1302D	probably benign	Het
Ube2r2	C	T	4: 41,190,715 (GRCm39)	S203L	possibly damaging	Het
Vldlr	G	T	19: 27,217,946 (GRCm39)	V465L	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r42	A	G	7: 8,195,692 (GRCm39)	F485L	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-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'- ACCTGGAAATTGCACTGTCTG -3'
(R):5'- AAGACAGGTCATGGACGTTGTG -3'

Sequencing Primer
(F):5'- GAAATTGCACTGTCTGTATTGCTACC -3'
(R):5'- TGTGGAGCTTCATGACCAC -3'

Posted On

2021-03-08