Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02951:Tcea3'

366015

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcea3

Ensembl Gene

ENSMUSG00000001604

Gene Name

transcription elongation factor A (SII), 3

Synonyms

S-II

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.279) question?

Stock #

IGL02951

Quality Score

Status

Chromosome

Chromosomal Location

136247729-136274898 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 136257988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102533] [ENSMUST00000143942]

AlphaFold

P23881

Predicted Effect

probably null
Transcript: ENSMUST00000102533

SMART Domains

Protein: ENSMUSP00000099592
Gene: ENSMUSG00000001604

Domain	Start	End	E-Value	Type
TFS2N	7	81	1.43e-29	SMART
low complexity region	86	100	N/A	INTRINSIC
low complexity region	124	144	N/A	INTRINSIC
low complexity region	157	168	N/A	INTRINSIC
TFS2M	184	285	1.05e-52	SMART
ZnF_C2C2	307	346	6.87e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136812

Predicted Effect

probably null
Transcript: ENSMUST00000143942

SMART Domains

Protein: ENSMUSP00000122718
Gene: ENSMUSG00000001604

Domain	Start	End	E-Value	Type
TFS2N	7	81	1.41e-28	SMART
low complexity region	110	124	N/A	INTRINSIC
low complexity region	148	168	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,454,702		probably benign	Het
Acot10	G	A	15: 20,665,782	T291I	probably benign	Het
Atp13a3	A	G	16: 30,338,621		probably null	Het
Atp2a1	C	T	7: 126,450,227	V548M	possibly damaging	Het
Bsn	G	A	9: 108,115,613	S980L	probably damaging	Het
Ccdc158	A	G	5: 92,650,006	M425T	probably damaging	Het
Cdh23	A	G	10: 60,311,364	L2733S	probably damaging	Het
Chd3	C	T	11: 69,361,048		probably null	Het
Dock2	T	C	11: 34,310,448		probably benign	Het
Elfn2	T	C	15: 78,671,882	K822E	probably damaging	Het
Eps15l1	G	A	8: 72,358,396	S764L	probably benign	Het
Etl4	C	A	2: 20,801,537		probably benign	Het
Faap24	C	A	7: 35,392,951	K180N	probably damaging	Het
Fam205a1	C	T	4: 42,850,696	E487K	probably benign	Het
Fhod1	G	A	8: 105,331,230	R888W	probably damaging	Het
Fus	T	C	7: 127,981,837		probably benign	Het
Gm3453	T	C	14: 5,976,168	E201G	possibly damaging	Het
Gm5346	T	G	8: 43,627,088	H33P	possibly damaging	Het
Gnpat	G	T	8: 124,870,905	D69Y	probably benign	Het
Gpaa1	T	A	15: 76,332,819		probably benign	Het
Gsta1	A	T	9: 78,242,537	K211*	probably null	Het
Lct	G	T	1: 128,300,211	Q1182K	probably damaging	Het
Mroh1	T	C	15: 76,427,636	L523P	probably damaging	Het
Mrpl46	A	G	7: 78,775,452		probably benign	Het
Mst1r	G	T	9: 107,908,204	V354F	possibly damaging	Het
Myo15b	A	G	11: 115,881,301	D299G	probably damaging	Het
Myo6	G	A	9: 80,264,234	V506I	possibly damaging	Het
Nadk	A	C	4: 155,587,476	K271Q	probably benign	Het
Nbas	A	G	12: 13,362,541	R954G	probably benign	Het
Nbr1	T	A	11: 101,571,979		probably null	Het
Nup88	T	C	11: 70,944,872	D587G	possibly damaging	Het
Oas1a	A	T	5: 120,905,664	F135Y	probably damaging	Het
Obscn	A	G	11: 58,994,513		probably benign	Het
Odf3l2	T	C	10: 79,639,977	N251S	probably benign	Het
Olfr1290	T	G	2: 111,490,120	I13L	probably benign	Het
Parp14	G	A	16: 35,858,533	T355I	probably benign	Het
Pdgfd	G	T	9: 6,288,494	L43F	probably damaging	Het
Pou5f2	T	C	13: 78,025,118	S60P	probably benign	Het
Prp2	A	G	6: 132,599,825	N25S	unknown	Het
Ptprq	A	T	10: 107,667,460	F779Y	probably benign	Het
Rims2	C	T	15: 39,534,938	R1078C	probably damaging	Het
Rnf38	G	T	4: 44,129,619	S425*	probably null	Het
Rps21	T	A	2: 180,258,047	I59N	probably damaging	Het
Scn5a	A	T	9: 119,495,685	F1359Y	probably damaging	Het
Slc35b2	A	G	17: 45,564,768	E67G	probably damaging	Het
Slc37a2	A	G	9: 37,255,315	F15L	probably benign	Het
Snapc4	A	C	2: 26,370,835	N465K	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Taco1	A	G	11: 106,069,527	N98S	probably benign	Het
Thada	T	C	17: 84,444,028	S507G	probably benign	Het
Tmem132b	T	A	5: 125,787,547	C906S	probably damaging	Het
Trpm2	A	T	10: 77,929,278	I963N	possibly damaging	Het
Usp10	A	G	8: 119,947,086	T397A	probably benign	Het
Usp3	G	A	9: 66,542,550	R160*	probably null	Het
Utp15	T	C	13: 98,257,952	Y144C	probably damaging	Het
Xpc	G	A	6: 91,506,849	R172W	probably damaging	Het

Other mutations in Tcea3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Tcea3	APN	4	136273692	missense	probably damaging	1.00
IGL01647:Tcea3	APN	4	136274776	splice site	probably benign
IGL02153:Tcea3	APN	4	136273634	splice site	probably benign
IGL02832:Tcea3	APN	4	136268113	missense	probably damaging	1.00
R0281:Tcea3	UTSW	4	136271366	missense	probably damaging	1.00
R0646:Tcea3	UTSW	4	136248071	nonsense	probably null
R3937:Tcea3	UTSW	4	136255143	splice site	probably benign
R4944:Tcea3	UTSW	4	136268093	missense	probably damaging	1.00
R5028:Tcea3	UTSW	4	136257935	missense	possibly damaging	0.87
R5169:Tcea3	UTSW	4	136264870	critical splice acceptor site	probably null
R5245:Tcea3	UTSW	4	136264502	missense	probably benign	0.01
R5511:Tcea3	UTSW	4	136271372	missense	probably damaging	1.00
R5730:Tcea3	UTSW	4	136264893	missense	probably benign	0.00
R6208:Tcea3	UTSW	4	136248049	start codon destroyed	probably damaging	0.96
R7106:Tcea3	UTSW	4	136271368	missense	probably damaging	1.00
R8018:Tcea3	UTSW	4	136257918	splice site	probably benign
R8076:Tcea3	UTSW	4	136268129	missense	probably damaging	1.00
R8078:Tcea3	UTSW	4	136254514	missense	probably damaging	0.99
R8158:Tcea3	UTSW	4	136273716	critical splice donor site	probably null
R8861:Tcea3	UTSW	4	136254499	missense	probably damaging	1.00
R9495:Tcea3	UTSW	4	136264574	missense	probably damaging	0.98

Posted On

2015-12-18