Mutagenetix > Incidental Mutation

Incidental Mutation 'R4458:Tent5a'

330020

Institutional Source

Beutler Lab

Gene Symbol

Tent5a

Ensembl Gene

ENSMUSG00000032265

Gene Name

terminal nucleotidyltransferase 5A

Synonyms

Fam46a, BAP014, D930050G01Rik

MMRRC Submission

041718-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

R4458 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85202492-85209203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85208527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 99 (I99V)

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: I118V

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: I118V

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: I99V

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: I99V

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630076J17Rik	G	A	3: 107,139,997 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,389,213 (GRCm39)	D2377G	probably damaging	Het
Ankrd44	A	T	1: 54,801,550 (GRCm39)	I56N	possibly damaging	Het
Apob	T	A	12: 8,065,445 (GRCm39)	I4105N	probably damaging	Het
Arhgap5	T	A	12: 52,564,740 (GRCm39)	N570K	probably benign	Het
Arid1b	A	T	17: 5,293,191 (GRCm39)	Q703L	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cad	T	A	5: 31,218,570 (GRCm39)	V499D	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Celsr2	A	C	3: 108,302,313 (GRCm39)	I2605S	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Clec18a	T	A	8: 111,802,102 (GRCm39)	T296S	probably damaging	Het
Crybg2	C	T	4: 133,802,205 (GRCm39)	P1122S	probably benign	Het
Cyld	G	T	8: 89,445,929 (GRCm39)	S309I	probably benign	Het
Dctn5	G	T	7: 121,734,303 (GRCm39)	R49L	probably damaging	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Erbin	C	A	13: 103,970,065 (GRCm39)	V1184F	probably damaging	Het
Ercc2	G	T	7: 19,127,771 (GRCm39)	R406L	probably damaging	Het
Eya1	C	T	1: 14,253,420 (GRCm39)	V519M	probably damaging	Het
Flad1	T	C	3: 89,316,241 (GRCm39)	H107R	probably benign	Het
Fsip2	G	T	2: 82,821,120 (GRCm39)	A5618S	possibly damaging	Het
Gabbr1	G	T	17: 37,378,667 (GRCm39)		probably null	Het
Haghl	A	T	17: 26,003,994 (GRCm39)	V30E	probably damaging	Het
Itga5	C	T	15: 103,258,630 (GRCm39)	E822K	probably damaging	Het
Klhl26	T	A	8: 70,905,342 (GRCm39)	E108D	possibly damaging	Het
Kpnb1	A	T	11: 97,059,996 (GRCm39)	L558Q	probably damaging	Het
Lias	T	C	5: 65,551,383 (GRCm39)		probably null	Het
Ltbp1	A	T	17: 75,583,502 (GRCm39)	K434M	possibly damaging	Het
Marchf1	C	A	8: 66,908,823 (GRCm39)	A177E	probably damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nol4	T	C	18: 22,885,052 (GRCm39)	I419V	probably damaging	Het
Nol6	A	G	4: 41,115,888 (GRCm39)	L1068P	probably damaging	Het
Nrcam	T	C	12: 44,606,513 (GRCm39)	S420P	probably damaging	Het
Or10c1	A	T	17: 37,522,204 (GRCm39)	I180N	possibly damaging	Het
Pitpnm2	T	C	5: 124,259,439 (GRCm39)	T1299A	probably benign	Het
Prdm16	A	G	4: 154,406,765 (GRCm39)	V1220A	probably benign	Het
Saraf	T	C	8: 34,621,870 (GRCm39)	S25P	unknown	Het
Serpine3	C	A	14: 62,911,922 (GRCm39)	L295I	probably damaging	Het
Sntb2	G	A	8: 107,718,239 (GRCm39)		probably null	Het
Surf6	T	C	2: 26,782,721 (GRCm39)	E202G	probably benign	Het
Th	A	T	7: 142,450,690 (GRCm39)	D135E	probably benign	Het
Traf1	A	G	2: 34,835,445 (GRCm39)	Y326H	probably damaging	Het
Tshz2	G	A	2: 169,727,008 (GRCm39)	A66T	probably benign	Het
Ttn	T	C	2: 76,777,257 (GRCm39)	M1382V	probably benign	Het
Ubqlnl	A	G	7: 103,798,396 (GRCm39)	V367A	probably benign	Het
Uspl1	T	A	5: 149,150,962 (GRCm39)	S707T	possibly damaging	Het
Utp18	A	G	11: 93,761,359 (GRCm39)	S350P	possibly damaging	Het
Vmn1r177	A	G	7: 23,565,645 (GRCm39)	V77A	possibly damaging	Het
Vmn1r229	A	G	17: 21,034,894 (GRCm39)	I46M	probably damaging	Het
Vnn3	T	C	10: 23,741,567 (GRCm39)	Y291H	probably benign	Het
Vps9d1	A	G	8: 123,974,487 (GRCm39)	S267P	probably benign	Het
Wrn	T	A	8: 33,785,026 (GRCm39)	T692S	probably damaging	Het
Yeats2	T	C	16: 20,032,071 (GRCm39)	I19T	probably damaging	Het
Zfp13	G	A	17: 23,800,150 (GRCm39)	A36V	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
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
R8554:Tent5a	UTSW	9	85,208,784 (GRCm39)	missense	possibly damaging	0.85
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'- GCAAGAAGTCTAACAGGCAATC -3'
(R):5'- CGAAGGGTACTTTGCCATGG -3'

Sequencing Primer
(F):5'- GGCAATCCAGAACGACGTC -3'
(R):5'- CTGCTCGGACTATTGCGAAAG -3'

Posted On

2015-07-21