Mutagenetix > Incidental Mutation

Incidental Mutation 'R9357:Tent5a'

708462

Institutional Source

Beutler Lab

Gene Symbol

Tent5a

Ensembl Gene

ENSMUSG00000032265

Gene Name

terminal nucleotidyltransferase 5A

Synonyms

Fam46a, BAP014, D930050G01Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9357 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85202492-85209203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85208672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 50 (N50K)

Ref Sequence

ENSEMBL: ENSMUSP00000140869 (fasta)

Gene Model

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

AlphaFold

D3Z5S8

Predicted Effect

probably benign
Transcript: ENSMUST00000034802
AA Change: N69K

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: N69K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000187711
AA Change: N50K

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: N50K

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (44/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,696 (GRCm39)	V900A	probably benign	Het
Adam28	C	T	14: 68,879,479 (GRCm39)	A190T	probably benign	Het
Ager	T	C	17: 34,817,541 (GRCm39)	V116A	probably damaging	Het
Agt	G	T	8: 125,291,065 (GRCm39)	H81N	probably benign	Het
Apc2	T	C	10: 80,146,872 (GRCm39)	V642A	probably damaging	Het
Atg4b	C	T	1: 93,713,648 (GRCm39)	T325M	probably damaging	Het
Atp10b	A	G	11: 43,150,711 (GRCm39)	S1470G	probably benign	Het
Cacul1	A	G	19: 60,533,942 (GRCm39)	I220T	probably benign	Het
Ccdc7a	T	C	8: 129,671,136 (GRCm39)		probably null	Het
Cnnm1	A	C	19: 43,429,827 (GRCm39)	D315A	probably damaging	Het
Fbxo24	A	G	5: 137,611,096 (GRCm39)	F565L	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,211 (GRCm39)	S73T	probably damaging	Het
Gbp7	T	C	3: 142,248,889 (GRCm39)	V384A	probably benign	Het
Gcnt2	A	T	13: 41,041,732 (GRCm39)	H297L	possibly damaging	Het
Glo1	T	C	17: 30,831,518 (GRCm39)	E3G	probably benign	Het
Gsdmc4	T	C	15: 63,772,196 (GRCm39)	D161G	probably benign	Het
Ifi213	T	A	1: 173,396,392 (GRCm39)	M561L	probably benign	Het
Ighv1-63	A	G	12: 115,459,478 (GRCm39)	S40P	probably damaging	Het
Itpr2	A	G	6: 146,260,814 (GRCm39)	L971P	probably damaging	Het
Lrp2	A	T	2: 69,336,917 (GRCm39)	I1285N	probably damaging	Het
Map1b	A	T	13: 99,566,708 (GRCm39)	Y2004*	probably null	Het
Mindy1	C	T	3: 95,202,590 (GRCm39)	L394F	probably benign	Het
Mug1	A	G	6: 121,852,450 (GRCm39)	D846G	probably benign	Het
Myh7b	A	G	2: 155,463,268 (GRCm39)	E500G	probably damaging	Het
Myo18a	C	T	11: 77,733,014 (GRCm39)	T1348M	probably damaging	Het
Myo7b	A	T	18: 32,093,129 (GRCm39)	I2027N	probably damaging	Het
Neb	T	C	2: 52,069,580 (GRCm39)		probably null	Het
Obscn	G	A	11: 58,929,592 (GRCm39)	R5208C	probably damaging	Het
Parg	G	A	14: 31,996,874 (GRCm39)	D827N	probably damaging	Het
Pcdha6	A	T	18: 37,102,226 (GRCm39)	H473L	probably benign	Het
Pde4dip	A	G	3: 97,625,645 (GRCm39)	S1318P	probably benign	Het
Ppan	T	C	9: 20,801,220 (GRCm39)	S166P	possibly damaging	Het
Ppargc1b	C	A	18: 61,448,939 (GRCm39)	A128S	probably damaging	Het
Rdh16f2	T	A	10: 127,712,915 (GRCm39)	D304E	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,260,448 (GRCm39)	L435Q	probably damaging	Het
Slc35d1	A	T	4: 103,065,333 (GRCm39)	Y183N		Het
Sspo	T	C	6: 48,443,989 (GRCm39)	S2166P	possibly damaging	Het
Twf2	T	C	9: 106,092,100 (GRCm39)	F319S	probably benign	Het
Ush2a	C	T	1: 188,607,147 (GRCm39)	T4014M	probably benign	Het
Vmn1r3	T	G	4: 3,185,149 (GRCm39)	T53P	probably damaging	Het
Vmn2r76	T	C	7: 85,880,428 (GRCm39)	E86G	probably benign	Het
Wdtc1	A	G	4: 133,023,782 (GRCm39)	Y530H	probably damaging	Het
Xdh	A	G	17: 74,214,711 (GRCm39)	F745L	probably damaging	Het
Xdh	A	C	17: 74,233,541 (GRCm39)		probably null	Het
Zfp358	T	C	8: 3,545,568 (GRCm39)	L50P	probably damaging	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
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
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'- AGATGAGGTCCAGGTCCTTGTAG -3'
(R):5'- TTTCGGAGGGCACTACATG -3'

Sequencing Primer
(F):5'- AGGTCCAGGTCCTTGTAGCCTAG -3'
(R):5'- GCACTACATGGCCGAGG -3'

Posted On

2022-04-18