Mutagenetix > Incidental Mutation

Incidental Mutation 'R5245:Tent5a'

401113

Institutional Source

Beutler Lab

Gene Symbol

Tent5a

Ensembl Gene

ENSMUSG00000032265

Gene Name

terminal nucleotidyltransferase 5A

Synonyms

Fam46a, BAP014, D930050G01Rik

MMRRC Submission

042816-MU

Accession Numbers

Essential gene?

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

Stock #

R5245 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85202492-85209203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85208401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 160 (Q160K)

Ref Sequence

ENSEMBL: ENSMUSP00000034802 (fasta)

Gene Model

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

AlphaFold

D3Z5S8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034802
AA Change: Q160K

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: Q160K

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: Q141K

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: Q141K

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

Meta Mutation Damage Score

0.2165

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

100% (51/51)

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
Abhd17b	T	A	19: 21,661,624 (GRCm39)	Y270*	probably null	Het
Akap9	A	T	5: 4,026,209 (GRCm39)	Q59L	probably damaging	Het
Aloxe3	A	T	11: 69,020,502 (GRCm39)	Q182L	probably benign	Het
Arhgef5	G	T	6: 43,242,614 (GRCm39)		probably benign	Het
Bcas3	T	A	11: 85,449,912 (GRCm39)	N663K	probably damaging	Het
Cimap3	T	C	3: 105,921,770 (GRCm39)	H51R	possibly damaging	Het
Cntfr	A	T	4: 41,670,879 (GRCm39)	W95R	possibly damaging	Het
Dcun1d4	A	G	5: 73,714,657 (GRCm39)	T275A	probably benign	Het
Eps8l1	A	G	7: 4,473,873 (GRCm39)	R227G	probably damaging	Het
Ets2	G	A	16: 95,513,304 (GRCm39)	W160*	probably null	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,823,505 (GRCm39)	M6413V	probably benign	Het
Gm14401	C	T	2: 176,778,471 (GRCm39)	P186S	probably damaging	Het
Hrc	G	A	7: 44,984,855 (GRCm39)	G2D	probably damaging	Het
Kcnq3	A	G	15: 65,903,284 (GRCm39)	V142A	possibly damaging	Het
Lama3	G	A	18: 12,552,950 (GRCm39)	C454Y	probably damaging	Het
Lrrk2	A	G	15: 91,680,292 (GRCm39)	T2068A	probably damaging	Het
Mab21l2	T	C	3: 86,454,799 (GRCm39)	E67G	possibly damaging	Het
Map3k5	G	A	10: 20,016,437 (GRCm39)	V1343I	probably benign	Het
Mcm4	T	A	16: 15,448,289 (GRCm39)	T423S	probably benign	Het
Mmp16	A	G	4: 18,054,596 (GRCm39)		probably benign	Het
Nat3	C	T	8: 68,000,832 (GRCm39)	T237I	probably benign	Het
Nol4	A	T	18: 22,828,179 (GRCm39)	*484R	probably null	Het
Nsmf	A	G	2: 24,946,119 (GRCm39)	E202G	probably damaging	Het
Olfml2b	T	C	1: 170,496,443 (GRCm39)	V358A	probably benign	Het
Or2v2	T	A	11: 49,004,116 (GRCm39)	I146F	probably benign	Het
Or4b1d	T	A	2: 89,968,606 (GRCm39)	K292N	probably damaging	Het
Osbpl1a	T	C	18: 12,891,910 (GRCm39)	E466G	probably damaging	Het
Pim3	A	G	15: 88,747,404 (GRCm39)	E90G	possibly damaging	Het
Recql5	T	C	11: 115,784,385 (GRCm39)	E905G	probably damaging	Het
Rnf31	T	G	14: 55,839,163 (GRCm39)	L925R	probably damaging	Het
Secisbp2l	A	G	2: 125,589,511 (GRCm39)	V679A	probably damaging	Het
Setdb2	T	A	14: 59,663,943 (GRCm39)	E68V	probably null	Het
Shtn1	T	A	19: 59,020,652 (GRCm39)	N190I	possibly damaging	Het
Slc25a25	G	A	2: 32,311,340 (GRCm39)	Q14*	probably null	Het
Snrnp27	A	G	6: 86,659,941 (GRCm39)	S18P	unknown	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Tbx5	T	C	5: 120,021,230 (GRCm39)	V412A	possibly damaging	Het
Tcea3	A	G	4: 135,991,813 (GRCm39)	T166A	probably benign	Het
Tdrp	A	T	8: 14,024,479 (GRCm39)		probably benign	Het
Tmem132e	T	C	11: 82,333,464 (GRCm39)	V624A	probably damaging	Het
Tnnt1	T	C	7: 4,513,066 (GRCm39)	D72G	probably damaging	Het
Trim80	C	A	11: 115,332,398 (GRCm39)	H197N	probably damaging	Het
Zfp322a	A	T	13: 23,541,156 (GRCm39)	C195*	probably null	Het
Zfp335	A	G	2: 164,736,678 (GRCm39)	S986P	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
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'- TCACTATGGCCATACTGACGG -3'
(R):5'- GCATTCTGAGCGAGACCATC -3'

Sequencing Primer
(F):5'- CGGCAGTCAAGGCAAGCTG -3'
(R):5'- TGAGCGAGACCATCCCGATC -3'

Posted On

2016-07-06