Mutagenetix > Incidental Mutation

Incidental Mutation 'R8554:Tent5a'

660029

Institutional Source

Beutler Lab

Gene Symbol

Tent5a

Ensembl Gene

ENSMUSG00000032265

Gene Name

terminal nucleotidyltransferase 5A

Synonyms

Fam46a, BAP014, D930050G01Rik

MMRRC Submission

068517-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R8554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85202492-85209203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85208784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 13 (D13G)

Ref Sequence

ENSEMBL: ENSMUSP00000140869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034802] [ENSMUST00000187711]

AlphaFold

D3Z5S8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034802
AA Change: D32G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: D32G

Domain	Start	End	E-Value	Type
low complexity region	43	55	N/A	INTRINSIC
DUF1693	71	389	8.01e-244	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187711
AA Change: D13G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: D13G

Domain	Start	End	E-Value	Type
low complexity region	24	36	N/A	INTRINSIC
DUF1693	52	370	3.9e-248	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for an ENU-induced allele show partial lethality, high alkaline phosphatase (ALP) activity, short stature, and limb, long bone, rib, pelvis and skull anomalies, with absent trabeculae and reduced cortical thickness in long bones. Heterozygotes show high ALP activity but no other defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	G	A	13: 41,969,636 (GRCm39)	T89I	possibly damaging	Het
Aopep	T	A	13: 63,444,711 (GRCm39)	Y94N	possibly damaging	Het
Apc	T	C	18: 34,445,999 (GRCm39)	V947A	probably damaging	Het
Apob	A	C	12: 8,037,830 (GRCm39)	K334N	probably damaging	Het
Camk2d	A	T	3: 126,564,448 (GRCm39)	Q119L	possibly damaging	Het
Ccdc60	A	T	5: 116,328,171 (GRCm39)	F98I	probably damaging	Het
Cd47	A	G	16: 49,688,304 (GRCm39)	T22A	probably benign	Het
Crat	A	G	2: 30,300,035 (GRCm39)	V115A	probably benign	Het
Csmd3	T	C	15: 47,507,538 (GRCm39)	M2992V	probably benign	Het
Dsg4	T	A	18: 20,586,100 (GRCm39)	N263K	probably damaging	Het
Eln	A	C	5: 134,738,964 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,523,228 (GRCm39)	E1284G	unknown	Het
Fam193a	T	A	5: 34,633,115 (GRCm39)	M122K	probably benign	Het
Fcgr1	A	T	3: 96,199,788 (GRCm39)	W40R	probably damaging	Het
Gm3486	T	A	14: 41,209,119 (GRCm39)	Q84L	probably damaging	Het
Golga2	G	A	2: 32,183,357 (GRCm39)	D80N	probably damaging	Het
Isg20	T	C	7: 78,566,425 (GRCm39)	Y125H	probably benign	Het
Kdf1	A	G	4: 133,256,188 (GRCm39)	I302V	probably damaging	Het
Kics2	T	A	10: 121,575,960 (GRCm39)	I27N	probably benign	Het
Krt33a	T	A	11: 99,903,209 (GRCm39)	T278S	possibly damaging	Het
Lrp1b	T	A	2: 41,234,495 (GRCm39)	Q1038L	probably benign	Het
Marchf6	G	A	15: 31,482,976 (GRCm39)	H476Y	probably damaging	Het
Myom1	A	G	17: 71,343,448 (GRCm39)	E215G	possibly damaging	Het
Or2aa1	A	T	11: 59,480,312 (GRCm39)	L201Q	possibly damaging	Het
Or2h15	T	A	17: 38,441,489 (GRCm39)	Q198L	probably damaging	Het
Or4c122	T	C	2: 89,079,595 (GRCm39)	T148A	possibly damaging	Het
Pate11	A	G	9: 36,387,788 (GRCm39)	I25V	probably benign	Het
Pdlim2	T	A	14: 70,408,698 (GRCm39)	T173S	probably benign	Het
Pitpnb	T	C	5: 111,494,372 (GRCm39)	M74T	probably benign	Het
Pou2f2	C	A	7: 24,814,981 (GRCm39)		probably benign	Het
Rab35	A	C	5: 115,783,690 (GRCm39)		probably null	Het
Rasef	A	T	4: 73,645,844 (GRCm39)	D508E	probably benign	Het
Rev3l	T	C	10: 39,682,838 (GRCm39)	S319P	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rgl3	A	G	9: 21,900,159 (GRCm39)	S44P	probably benign	Het
Rnf214	C	A	9: 45,778,797 (GRCm39)		probably null	Het
Rpsa	T	C	9: 119,958,317 (GRCm39)	V76A	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Senp7	T	C	16: 55,978,973 (GRCm39)	V529A	probably benign	Het
Siglecg	C	T	7: 43,058,320 (GRCm39)	S69L	probably benign	Het
Sos1	G	T	17: 80,705,842 (GRCm39)	T1243K	probably damaging	Het
Tlcd3a	A	G	11: 76,096,244 (GRCm39)	H124R	probably damaging	Het
Tmc2	A	G	2: 130,106,084 (GRCm39)	T872A	probably benign	Het
Tnfrsf8	A	C	4: 145,023,511 (GRCm39)	C107W	probably damaging	Het
Tnn	T	C	1: 159,937,986 (GRCm39)	Y913C	probably damaging	Het
Ttn	T	C	2: 76,568,376 (GRCm39)	T19179A	probably damaging	Het
Usp42	T	A	5: 143,706,137 (GRCm39)	K294N	probably damaging	Het
Vmn1r123	T	A	7: 20,896,971 (GRCm39)	C288S	probably benign	Het
Vmn1r29	T	A	6: 58,285,191 (GRCm39)	*304K	probably null	Het
Vmn2r1	T	C	3: 63,997,334 (GRCm39)	I330T	probably damaging	Het
Vmn2r16	A	G	5: 109,511,997 (GRCm39)	I735V	probably benign	Het
Vmn2r65	T	C	7: 84,595,960 (GRCm39)	I241M	probably benign	Het

Other mutations in Tent5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Tent5a	APN	9	85,206,806 (GRCm39)	missense	possibly damaging	0.94
IGL01135:Tent5a	APN	9	85,208,652 (GRCm39)	missense	probably damaging	0.97
IGL01724:Tent5a	APN	9	85,207,103 (GRCm39)	missense	probably damaging	0.99
IGL02798:Tent5a	APN	9	85,206,937 (GRCm39)	missense	probably damaging	1.00
R0482:Tent5a	UTSW	9	85,207,108 (GRCm39)	missense	probably damaging	1.00
R2697:Tent5a	UTSW	9	85,206,793 (GRCm39)	missense	possibly damaging	0.48
R4458:Tent5a	UTSW	9	85,208,527 (GRCm39)	missense	possibly damaging	0.75
R4494:Tent5a	UTSW	9	85,207,100 (GRCm39)	missense	probably damaging	0.99
R5245:Tent5a	UTSW	9	85,208,401 (GRCm39)	missense	possibly damaging	0.46
R6539:Tent5a	UTSW	9	85,208,614 (GRCm39)	missense	possibly damaging	0.75
R6622:Tent5a	UTSW	9	85,208,509 (GRCm39)	missense	probably damaging	0.99
R7253:Tent5a	UTSW	9	85,208,770 (GRCm39)	missense	probably benign	0.01
R7317:Tent5a	UTSW	9	85,206,670 (GRCm39)	missense	possibly damaging	0.81
R8770:Tent5a	UTSW	9	85,208,803 (GRCm39)	missense	probably benign	0.01
R9231:Tent5a	UTSW	9	85,208,388 (GRCm39)	missense	possibly damaging	0.82
R9357:Tent5a	UTSW	9	85,208,672 (GRCm39)	missense	probably benign	0.15
R9604:Tent5a	UTSW	9	85,206,677 (GRCm39)	missense	probably benign	0.16
R9708:Tent5a	UTSW	9	85,207,267 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TCACAATCAGGCTTGGCTG -3'
(R):5'- CTACTATGGGCGTCACGATC -3'

Sequencing Primer
(F):5'- TCAGGCTTGGCTGCAGCTC -3'
(R):5'- GCGTCACGATCGGGGAG -3'

Posted On

2021-01-18