Mutagenetix > Incidental Mutation

Incidental Mutation 'R9517:Tent4a'

718670

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

Accession Numbers

Essential gene?

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

Stock #

R9517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69646071-69682710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69655059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 472 (C472R)

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: C229R

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

SMART Domains

Protein: ENSMUSP00000040757
Gene: ENSMUSG00000034575
AA Change: C229R

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: C472R

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

SMART Domains

Protein: ENSMUSP00000142516
Gene: ENSMUSG00000034575
AA Change: C472R

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: C229R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,113,528 (GRCm39)	V264E	probably damaging	Het
Abca15	A	G	7: 119,987,424 (GRCm39)	I1237V	probably benign	Het
Actn2	G	T	13: 12,295,317 (GRCm39)	Q552K	probably damaging	Het
Adnp	A	T	2: 168,024,866 (GRCm39)	C810S	possibly damaging	Het
Aip	A	T	19: 4,168,217 (GRCm39)	I50K	possibly damaging	Het
Arsk	A	G	13: 76,210,638 (GRCm39)	S470P	probably damaging	Het
Aspm	T	A	1: 139,407,167 (GRCm39)	I2018K	probably damaging	Het
Aspn	G	A	13: 49,705,275 (GRCm39)	D46N		Het
C6	G	T	15: 4,827,914 (GRCm39)	C761F	probably damaging	Het
Cdk12	A	T	11: 98,109,910 (GRCm39)	T644S	unknown	Het
Cela3a	T	A	4: 137,131,825 (GRCm39)	I123F	probably damaging	Het
Chchd3	A	T	6: 33,026,317 (GRCm39)	S42T	probably benign	Het
Chst5	A	G	8: 112,616,652 (GRCm39)	S323P	possibly damaging	Het
Clec4g	C	A	8: 3,767,452 (GRCm39)	A198S	probably damaging	Het
Dcbld2	T	G	16: 58,253,819 (GRCm39)	D185E	probably benign	Het
Dnah17	A	G	11: 117,915,440 (GRCm39)	V4393A	possibly damaging	Het
Dock9	T	C	14: 121,829,236 (GRCm39)	T1392A	probably benign	Het
Ell2	A	G	13: 75,912,106 (GRCm39)	K464R	possibly damaging	Het
Eme2	G	A	17: 25,114,033 (GRCm39)		probably benign	Het
Eps8l1	T	A	7: 4,480,636 (GRCm39)	I530N	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbxw25	A	G	9: 109,480,892 (GRCm39)	Y263H		Het
Frem1	T	C	4: 82,901,714 (GRCm39)	Y938C	probably damaging	Het
Gdf10	A	G	14: 33,654,522 (GRCm39)	D343G	probably benign	Het
Gm3415	C	T	5: 146,493,406 (GRCm39)	R84C	possibly damaging	Het
Hap1	A	T	11: 100,240,188 (GRCm39)	V536D	possibly damaging	Het
Icos	T	C	1: 61,032,894 (GRCm39)	F31S	probably damaging	Het
Inpp5d	T	A	1: 87,638,853 (GRCm39)	S812T	probably benign	Het
Kcng4	A	G	8: 120,353,070 (GRCm39)	V280A	probably benign	Het
Ldlr	T	C	9: 21,655,240 (GRCm39)	V623A	possibly damaging	Het
Lipc	T	C	9: 70,709,560 (GRCm39)	T396A	probably benign	Het
Lrit2	T	A	14: 36,794,272 (GRCm39)	C445*	probably null	Het
Lrrc37	G	A	11: 103,433,416 (GRCm39)	T3251I	unknown	Het
Mcc	C	A	18: 44,794,794 (GRCm39)	G10C	probably damaging	Het
Mtfr1l	T	C	4: 134,256,515 (GRCm39)	T217A	probably benign	Het
Mtrr	A	T	13: 68,728,730 (GRCm39)	S23R	probably benign	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo7a	A	T	7: 97,721,166 (GRCm39)	D1255E	probably damaging	Het
Nfatc1	T	C	18: 80,725,406 (GRCm39)	K453E	probably damaging	Het
Nrap	A	T	19: 56,360,277 (GRCm39)	M466K	probably benign	Het
Or10j3	C	A	1: 173,031,346 (GRCm39)	A141D	possibly damaging	Het
Or11g26	C	A	14: 50,752,770 (GRCm39)	F36L	probably benign	Het
Or4c106	G	A	2: 88,682,947 (GRCm39)	V218I	probably benign	Het
Or4f54	T	G	2: 111,123,033 (GRCm39)	M140R	possibly damaging	Het
Or8b41	T	A	9: 38,054,623 (GRCm39)	M59K	probably damaging	Het
Osbpl1a	A	G	18: 13,042,965 (GRCm39)	V192A	probably benign	Het
Pgd	T	C	4: 149,249,668 (GRCm39)	T35A	possibly damaging	Het
Plcxd3	G	T	15: 4,405,160 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,424,930 (GRCm39)	D171V	possibly damaging	Het
Prmt7	A	G	8: 106,953,930 (GRCm39)	T124A	probably damaging	Het
Pzp	A	G	6: 128,489,117 (GRCm39)		probably null	Het
Rilpl2	A	G	5: 124,607,788 (GRCm39)	V144A	probably benign	Het
Rin3	T	C	12: 102,334,895 (GRCm39)	S269P	unknown	Het
Setbp1	T	C	18: 78,901,322 (GRCm39)	S782G	probably damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm39)	F268I	probably damaging	Het
Sox6	A	G	7: 115,111,970 (GRCm39)	L552S	possibly damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r11	A	G	6: 57,114,555 (GRCm39)	D73G	possibly damaging	Het
Vmn1r39	A	C	6: 66,782,258 (GRCm39)	I20R	possibly damaging	Het
Vmn2r82	C	T	10: 79,213,641 (GRCm39)	R76*	probably null	Het
Zhx1	A	T	15: 57,915,812 (GRCm39)	Y811*	probably null	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
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'- CAGGAGTCCCCATTCTTCAC -3'
(R):5'- CCGGAGAGCTGATGAAAACC -3'

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

Posted On

2022-07-18