Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01730:Tent5b'

105431

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tent5b

Ensembl Gene

ENSMUSG00000046694

Gene Name

terminal nucleotidyltransferase 5B

Synonyms

4732473B16Rik, Fam46b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

IGL01730

Quality Score

Status

Chromosome

Chromosomal Location

133207443-133215249 bp(+) (GRCm39)

Type of Mutation

splice site (4578 bp from exon)

DNA Base Change (assembly)

A to T at 133213833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051676] [ENSMUST00000125541]

AlphaFold

Q8C152

Predicted Effect

probably benign
Transcript: ENSMUST00000051676
AA Change: T235S

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000056015
Gene: ENSMUSG00000046694
AA Change: T235S

Domain	Start	End	E-Value	Type
low complexity region	15	44	N/A	INTRINSIC
DUF1693	52	372	2.52e-218	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123169

Predicted Effect

probably null
Transcript: ENSMUST00000125541

SMART Domains

Protein: ENSMUSP00000129613
Gene: ENSMUSG00000056596

Domain	Start	End	E-Value	Type
low complexity region	20	54	N/A	INTRINSIC
low complexity region	72	124	N/A	INTRINSIC
low complexity region	131	144	N/A	INTRINSIC
low complexity region	164	189	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132840

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	G	5: 36,119,583 (GRCm39)	E287G	probably damaging	Het
Bhmt	A	T	13: 93,761,917 (GRCm39)	V122E	probably damaging	Het
Camta1	A	G	4: 151,147,302 (GRCm39)	I585T	probably damaging	Het
Cfap221	A	G	1: 119,861,841 (GRCm39)	S645P	probably benign	Het
Derl1	A	T	15: 57,755,543 (GRCm39)	F50Y	possibly damaging	Het
Dhrs3	T	C	4: 144,646,042 (GRCm39)	S117P	probably damaging	Het
E2f8	A	T	7: 48,527,682 (GRCm39)		probably benign	Het
Fbn1	A	T	2: 125,154,894 (GRCm39)		probably benign	Het
Fbxo15	A	G	18: 84,982,299 (GRCm39)	I250M	probably benign	Het
Ghr	A	T	15: 3,350,066 (GRCm39)	S371T	probably damaging	Het
Gm5884	A	T	6: 128,622,669 (GRCm39)		noncoding transcript	Het
Grhl2	T	C	15: 37,338,018 (GRCm39)	V496A	probably benign	Het
Gsap	A	G	5: 21,495,152 (GRCm39)		probably benign	Het
Irak3	T	C	10: 120,014,005 (GRCm39)	D148G	probably benign	Het
Itga2	A	T	13: 114,990,947 (GRCm39)		probably benign	Het
Kif13b	T	C	14: 64,987,810 (GRCm39)		probably null	Het
Kif20b	A	T	19: 34,927,923 (GRCm39)	K1022*	probably null	Het
Klhl17	G	T	4: 156,316,157 (GRCm39)	S399*	probably null	Het
Lcp2	A	T	11: 34,000,943 (GRCm39)	D42V	possibly damaging	Het
Lin7c	G	T	2: 109,726,785 (GRCm39)	G145*	probably null	Het
Lrba	A	G	3: 86,648,731 (GRCm39)	D2493G	possibly damaging	Het
Mobp	A	G	9: 119,996,992 (GRCm39)	D41G	probably damaging	Het
Mycbp2	G	A	14: 103,372,640 (GRCm39)	Q785*	probably null	Het
Myl6b	T	C	10: 128,332,211 (GRCm39)	Y85C	possibly damaging	Het
Nup133	G	T	8: 124,664,972 (GRCm39)	H240N	probably benign	Het
Or5b12	A	C	19: 12,896,926 (GRCm39)	F249C	probably damaging	Het
Plk4	T	C	3: 40,760,285 (GRCm39)	S394P	probably benign	Het
Prepl	A	G	17: 85,388,603 (GRCm39)	Y167H	possibly damaging	Het
Prkab1	A	G	5: 116,159,551 (GRCm39)	L105P	probably damaging	Het
Ryr2	T	A	13: 11,616,728 (GRCm39)	I3897L	possibly damaging	Het
Sema3c	A	G	5: 17,916,434 (GRCm39)	S469G	probably benign	Het
Serpinb3c	T	A	1: 107,200,914 (GRCm39)	S168C	probably damaging	Het
Snapc4	A	T	2: 26,253,736 (GRCm39)		probably null	Het
Sorcs2	A	T	5: 36,205,153 (GRCm39)	M528K	probably damaging	Het
Spink10	T	A	18: 62,784,816 (GRCm39)		probably null	Het
Thsd7a	C	A	6: 12,554,980 (GRCm39)	Q301H	probably benign	Het
Tmem135	A	T	7: 88,797,252 (GRCm39)	F335I	possibly damaging	Het
Tshr	A	T	12: 91,486,077 (GRCm39)	D217V	possibly damaging	Het
Ttyh1	G	A	7: 4,128,720 (GRCm39)	V206M	possibly damaging	Het
Tusc3	T	G	8: 39,617,880 (GRCm39)	*348G	probably null	Het
Vmn2r76	G	A	7: 85,879,406 (GRCm39)	T298I	probably benign	Het
Wdr47	T	C	3: 108,518,712 (GRCm39)	F67L	probably damaging	Het

Other mutations in Tent5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01871:Tent5b	APN	4	133,213,620 (GRCm39)	missense	possibly damaging	0.89
IGL02218:Tent5b	APN	4	133,213,462 (GRCm39)	missense	probably damaging	1.00
IGL02222:Tent5b	APN	4	133,213,864 (GRCm39)	missense	probably damaging	0.99
R0345:Tent5b	UTSW	4	133,213,522 (GRCm39)	missense	probably benign	0.01
R0515:Tent5b	UTSW	4	133,213,450 (GRCm39)	missense	possibly damaging	0.92
R0843:Tent5b	UTSW	4	133,213,842 (GRCm39)	missense	probably damaging	1.00
R1240:Tent5b	UTSW	4	133,213,815 (GRCm39)	missense	probably benign	0.01
R2042:Tent5b	UTSW	4	133,213,924 (GRCm39)	missense	possibly damaging	0.82
R4328:Tent5b	UTSW	4	133,213,914 (GRCm39)	nonsense	probably null
R4811:Tent5b	UTSW	4	133,213,681 (GRCm39)	missense	probably benign	0.01
R4868:Tent5b	UTSW	4	133,213,393 (GRCm39)	critical splice acceptor site	probably null
R5056:Tent5b	UTSW	4	133,207,749 (GRCm39)	missense	possibly damaging	0.91
R6360:Tent5b	UTSW	4	133,214,067 (GRCm39)	missense	probably damaging	0.99
R6454:Tent5b	UTSW	4	133,207,720 (GRCm39)	missense	probably damaging	1.00
R7017:Tent5b	UTSW	4	133,213,545 (GRCm39)	missense	possibly damaging	0.95
R7186:Tent5b	UTSW	4	133,213,518 (GRCm39)	missense	probably damaging	1.00
R7315:Tent5b	UTSW	4	133,214,395 (GRCm39)	missense	probably damaging	1.00
R8410:Tent5b	UTSW	4	133,214,362 (GRCm39)	missense	possibly damaging	0.95
R9093:Tent5b	UTSW	4	133,214,352 (GRCm39)	missense	probably damaging	0.99
R9361:Tent5b	UTSW	4	133,213,461 (GRCm39)	missense	probably damaging	1.00
Z1176:Tent5b	UTSW	4	133,213,993 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21