Mutagenetix > Incidental Mutation

Incidental Mutation 'RF039:Tent4a'

604724

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?

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

Stock #

RF039 (G1)

Quality Score

134.458

Status

Not validated

Chromosome

Chromosomal Location

69646071-69682710 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

GACA to G at 69681973 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

probably benign
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: 99.7%
10x: 99.3%
20x: 98.5%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTTCATCCTGGGCTGCT	4: 155,989,549 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,971 (GRCm39)		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,825,059 (GRCm39)		probably benign	Het
Cckbr	GCA	G	7: 105,083,893 (GRCm39)		probably null	Het
Cd276	G	A	9: 58,442,787 (GRCm39)	R223C	probably damaging	Het
Cdx1	CTGCTG	CTGCTGATGCTG	18: 61,152,942 (GRCm39)		probably benign	Het
Cul9	CCT	CCTTCT	17: 46,811,780 (GRCm39)		probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGTCTGC	4: 129,503,444 (GRCm39)		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eml6	CTAAAAAAACAAAACA	C	11: 29,702,551 (GRCm39)		probably benign	Het
Eps8	C	CTCAT	6: 137,494,068 (GRCm39)		probably null	Het
Exd2	CACAGCCA	C	12: 80,522,715 (GRCm39)		probably null	Het
Gab3	TTC	TTCGTC	X: 74,043,610 (GRCm39)		probably benign	Het
Gm10718	ATTTTCAGTTTCCTCGCCATATTCCAGGTCCTACAGTGTGCATTTCTCATTTTTCACGTTTTTCAGT	ATTTTCAGT	9: 3,024,385 (GRCm39)		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,489,122 (GRCm39)		probably benign	Het
Gm8369	GTG	GTGTTTTTG	19: 11,489,146 (GRCm39)		probably benign	Het
Igf1r	GG	GGTGATGGAGCTTG	7: 67,875,924 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGTTGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Kif12	GGC	GGCCTCCAACCGGCCAGC	4: 63,089,662 (GRCm39)		probably benign	Het
L1td1	AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG	AGGAGGAGGAG	4: 98,625,026 (GRCm39)		probably benign	Het
Lrch1	CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	14: 75,184,989 (GRCm39)		probably benign	Het
Lypd8	ACCAATCACCAAC	ACCAATCACCAACTGTTCCCTCGCCTCTGTTTCCCCCCCAATCACCAAC	11: 58,281,057 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,432 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGAAG	X: 70,162,446 (GRCm39)		probably benign	Het
Map1a	CCAGC	CCAGCCCCAGCTCCAGCTCCAGCTCCAGCTACAGC	2: 121,136,785 (GRCm39)		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,875,749 (GRCm39)		probably benign	Het
Nalf2	CCG	CCGCCGGCG	X: 98,864,978 (GRCm39)		probably benign	Het
Nefh	AGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	AGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,007 (GRCm39)		probably benign	Het
Or4k41	G	A	2: 111,279,896 (GRCm39)	G137D	not run	Het
Pdcd11	GGAGGAGA	G	19: 47,101,894 (GRCm39)		probably null	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTTAACATC	7: 16,695,369 (GRCm39)		probably benign	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,577,464 (GRCm39)		probably benign	Het
Prr5l	GCCTC	G	2: 101,627,918 (GRCm39)		probably null	Het
Rassf6	TCATGGTCCTGTAGAGCAATGGGGATTC	TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,774 (GRCm39)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGTTCCTGTAGAGCAATGGGGTTTC	5: 90,756,798 (GRCm39)		probably benign	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCCCCATGATCACTGTGCTC	15: 76,499,070 (GRCm39)		probably benign	Het
Slc39a4	TC	TCATCGTGATCACCATGGTCACCATGATCACTGTGGAC	15: 76,499,071 (GRCm39)		probably benign	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Spmap2l	GCGATCCTCCCCAGTCCCGCAAGGCCA	GCGATCCTCCCCAGGCCCGCAAGGCCACCGATCCTCCCCAGTCCCGCAAGGCCA	5: 77,164,249 (GRCm39)		probably benign	Het
Strn	TTACCCC	TTACCCCTGGCCGTGCTCCCTTACCCCAGTCCGTGCGCCCGTACCCC	17: 78,984,707 (GRCm39)		probably null	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,825,401 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,020 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGTAG	17: 48,097,035 (GRCm39)		probably null	Het
Thbs1	TGACCTTAG	TG	2: 117,953,346 (GRCm39)		probably benign	Het
Tmprss13	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	9: 45,239,762 (GRCm39)		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGG	CCCCAGGACTCCCTGTGCCCAACGGAACAAACCCAGGACTCCCTGTGCCCAACGG	15: 78,851,236 (GRCm39)		probably benign	Het
Triobp	CAGGACTCCCTGTGCCCAACGG	CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG	15: 78,851,239 (GRCm39)		probably benign	Het
Ufl1	C	T	4: 25,280,628 (GRCm39)	R73Q	possibly damaging	Het
Yipf3	AGAGGA	AGA	17: 46,559,898 (GRCm39)		probably benign	Het
Zc3h4	TGACATGCACCCTGACATGCACCCAGACATGCACCCCGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	TGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	7: 16,163,543 (GRCm39)		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
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'- ATACGTGCTGGCCTTGTTC -3'
(R):5'- TGGATGCAGATCTGGGAGAC -3'

Sequencing Primer
(F):5'- ACCCGGGTGGAACTGGTG -3'
(R):5'- TCTGCCTCAACTCGCCGG -3'

Posted On

2019-12-04