Mutagenetix > Incidental Mutation

Incidental Mutation 'R9708:Tent5a'

729905

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 #

R9708 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85202492-85209203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85207267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 177 (M177T)

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: M196T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: M196T

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: M177T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: M177T

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: 99.9%
3x: 99.8%
10x: 99.1%
20x: 97.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,254,417 (GRCm39)	N576I	probably damaging	Het
Acss1	G	T	2: 150,471,752 (GRCm39)	T334K	probably damaging	Het
Alox5	A	G	6: 116,392,537 (GRCm39)	L328P	probably damaging	Het
Armc2	A	T	10: 41,839,744 (GRCm39)	M407K	possibly damaging	Het
Asb3	A	T	11: 31,051,075 (GRCm39)	I471F	probably benign	Het
Asph	G	A	4: 9,542,233 (GRCm39)	R335W	probably damaging	Het
B4galnt4	A	G	7: 140,647,657 (GRCm39)	E415G	probably benign	Het
Btn2a2	G	A	13: 23,662,907 (GRCm39)	P348S	possibly damaging	Het
Catsper2	A	G	2: 121,237,321 (GRCm39)	V193A	possibly damaging	Het
Ccdc112	G	A	18: 46,444,780 (GRCm39)	A33V	probably benign	Het
Cfap221	T	A	1: 119,860,619 (GRCm39)	Y669F	probably damaging	Het
D030056L22Rik	T	G	19: 18,690,776 (GRCm39)	L30R	possibly damaging	Het
Fanca	C	A	8: 124,001,263 (GRCm39)	G1091*	probably null	Het
Foxl1	A	G	8: 121,855,077 (GRCm39)	D126G	possibly damaging	Het
Gba1	T	C	3: 89,112,801 (GRCm39)	S148P	probably damaging	Het
Gem	G	A	4: 11,711,154 (GRCm39)	R115H	possibly damaging	Het
Gm4924	T	G	10: 82,214,992 (GRCm39)	L930R	unknown	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Irx5	A	T	8: 93,087,118 (GRCm39)	D350V	probably benign	Het
Kng2	G	T	16: 22,815,801 (GRCm39)	P365Q	probably damaging	Het
Lrp4	A	T	2: 91,342,076 (GRCm39)	E1896D	probably benign	Het
Lrrk2	C	A	15: 91,634,482 (GRCm39)	Y1415*	probably null	Het
Map2k7	C	A	8: 4,295,806 (GRCm39)	H429N	probably benign	Het
Mogat1	T	A	1: 78,488,633 (GRCm39)	L12Q	probably damaging	Het
Mov10	C	T	3: 104,704,613 (GRCm39)	R766H	probably benign	Het
Mthfr	G	T	4: 148,128,978 (GRCm39)	E225*	probably null	Het
Mtmr11	T	C	3: 96,076,403 (GRCm39)	F453L	possibly damaging	Het
Naip2	T	C	13: 100,298,087 (GRCm39)	N650D	probably damaging	Het
Nek3	C	T	8: 22,618,742 (GRCm39)	G497R	unknown	Het
Nol4	G	T	18: 22,828,053 (GRCm39)	A337E	probably damaging	Het
Nrxn2	A	G	19: 6,581,882 (GRCm39)	T1606A	probably benign	Het
Odad2	G	T	18: 7,288,633 (GRCm39)	T78K	probably benign	Het
Or2ab1	G	A	11: 58,488,927 (GRCm39)	R229H	probably benign	Het
Or4a71	T	C	2: 89,358,214 (GRCm39)	N180S	probably benign	Het
Or5b124	G	A	19: 13,610,760 (GRCm39)	C95Y	probably damaging	Het
Or5p6	T	C	7: 107,631,259 (GRCm39)	Y97C	probably benign	Het
Paox	C	T	7: 139,712,359 (GRCm39)	R197*	probably null	Het
Pcdha8	A	G	18: 37,125,548 (GRCm39)	D10G	probably benign	Het
Pde6h	T	G	6: 136,936,359 (GRCm39)	F34C	probably damaging	Het
Phkb	T	G	8: 86,783,119 (GRCm39)	S972A	probably benign	Het
Pik3c2g	T	A	6: 139,606,865 (GRCm39)	M304K	probably benign	Het
Rnf144b	A	G	13: 47,397,912 (GRCm39)	I281V	probably damaging	Het
Robo2	C	T	16: 73,770,197 (GRCm39)	G509E	possibly damaging	Het
Sap30l	A	G	11: 57,696,936 (GRCm39)	R89G	probably damaging	Het
Scrn2	C	T	11: 96,922,928 (GRCm39)	R124W	probably damaging	Het
Shcbp1l	A	T	1: 153,328,011 (GRCm39)	N574I	probably damaging	Het
Slfn8	T	C	11: 82,894,267 (GRCm39)	I791V	probably benign	Het
Stard13	C	T	5: 150,986,961 (GRCm39)	S183N	possibly damaging	Het
Tpbg	A	G	9: 85,726,574 (GRCm39)	N181S	probably benign	Het
Tsc22d1	T	A	14: 76,654,664 (GRCm39)	V381D	possibly damaging	Het
Uhrf1	A	G	17: 56,629,357 (GRCm39)	D735G	probably benign	Het
Vmn2r13	T	A	5: 109,322,007 (GRCm39)	D230V	probably benign	Het
Vwf	T	A	6: 125,634,053 (GRCm39)	V2116E		Het
Zfp616	G	A	11: 73,976,283 (GRCm39)	G851S	probably damaging	Het
Zranb1	G	T	7: 132,584,600 (GRCm39)	E623*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CATCGGGTTCTCTGAACACTC -3'
(R):5'- TCTTTCCCAGACGGCAAAAC -3'

Sequencing Primer
(F):5'- CGGGTTCTCTGAACACTCGTAAAAG -3'
(R):5'- GACGGCAAAACTACTCGTTAAATG -3'

Posted On

2022-10-06