Mutagenetix > Incidental Mutation

Incidental Mutation 'R5730:Tcea3'

452708

Institutional Source

Beutler Lab

Gene Symbol

Tcea3

Ensembl Gene

ENSMUSG00000001604

Gene Name

transcription elongation factor A (SII), 3

Synonyms

S-II, SII-K1

MMRRC Submission

043191-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R5730 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135975253-136002214 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135992204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 209 (V209A)

Ref Sequence

ENSEMBL: ENSMUSP00000099592 (fasta)

Gene Model

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

AlphaFold

P23881

PDB Structure

Solution structure of the N-terminal Domain I of mouse transcription elongation factor S-II protein 3 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000102533
AA Change: V209A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099592
Gene: ENSMUSG00000001604
AA Change: V209A

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 benign
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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,987,617 (GRCm39)	V2967A	possibly damaging	Het
Apaf1	A	T	10: 90,856,633 (GRCm39)	I858K	possibly damaging	Het
Baiap3	T	C	17: 25,466,498 (GRCm39)	T466A	probably benign	Het
Brca2	T	A	5: 150,492,470 (GRCm39)	S3162T	possibly damaging	Het
Brd1	T	G	15: 88,601,248 (GRCm39)	N462T	probably benign	Het
Carm1	G	A	9: 21,491,636 (GRCm39)	R235H	probably benign	Het
Cd80	T	C	16: 38,303,097 (GRCm39)		probably null	Het
Clip4	A	G	17: 72,117,954 (GRCm39)	Y333C	probably damaging	Het
Col7a1	T	C	9: 108,801,310 (GRCm39)		probably null	Het
Csmd1	G	A	8: 16,235,206 (GRCm39)	Q1206*	probably null	Het
Cyp17a1	A	G	19: 46,661,095 (GRCm39)	I63T	possibly damaging	Het
Diaph1	A	G	18: 38,036,829 (GRCm39)	Y119H	unknown	Het
Dst	T	G	1: 34,156,607 (GRCm39)		probably null	Het
Fgfr1	A	G	8: 26,063,827 (GRCm39)	T785A	probably damaging	Het
Gm1553	A	G	10: 82,323,945 (GRCm39)	F94S	unknown	Het
Gpbar1	A	G	1: 74,318,195 (GRCm39)	N146S	probably damaging	Het
Gpc5	A	G	14: 116,025,726 (GRCm39)	T588A	possibly damaging	Het
Gramd2a	A	G	9: 59,618,489 (GRCm39)	H9R	probably damaging	Het
Klk1b11	G	A	7: 43,424,199 (GRCm39)	S6N	probably benign	Het
Lrp1	A	G	10: 127,419,703 (GRCm39)	S969P	probably benign	Het
Lyz2	G	T	10: 117,114,587 (GRCm39)	A114E	probably damaging	Het
Madd	T	C	2: 90,988,454 (GRCm39)	D1193G	probably damaging	Het
Mrpl39	C	T	16: 84,529,322 (GRCm39)	G107R	probably damaging	Het
Mthfd2	C	T	6: 83,294,441 (GRCm39)	R24H	probably benign	Het
Or2q1	C	T	6: 42,795,094 (GRCm39)	R230*	probably null	Het
Or4a68	T	C	2: 89,269,780 (GRCm39)	N281S	probably damaging	Het
Ovch2	A	G	7: 107,392,606 (GRCm39)	C246R	probably damaging	Het
Phf14	A	T	6: 11,953,319 (GRCm39)	I353F	possibly damaging	Het
Ppp2r5a	C	T	1: 191,104,732 (GRCm39)	V105I	probably benign	Het
Prr14l	T	C	5: 32,950,947 (GRCm39)	T1949A	probably damaging	Het
Prss48	T	G	3: 85,904,563 (GRCm39)	M212L	possibly damaging	Het
Pstk	A	T	7: 130,975,503 (GRCm39)	D152V	probably damaging	Het
Scn2a	C	A	2: 65,512,882 (GRCm39)	S214*	probably null	Het
Scn3a	T	G	2: 65,325,604 (GRCm39)	N971T	probably benign	Het
Syne3	T	C	12: 104,927,713 (GRCm39)	I250V	probably benign	Het
Synpo2	T	C	3: 122,907,768 (GRCm39)	D516G	probably benign	Het
Tnr	A	G	1: 159,715,892 (GRCm39)	S885G	probably benign	Het
Trak2	T	C	1: 58,960,966 (GRCm39)	D188G	probably damaging	Het
Tubb1	A	G	2: 174,299,562 (GRCm39)	I415V	probably benign	Het
Virma	T	A	4: 11,542,154 (GRCm39)	M1580K	probably benign	Het
Vmn1r120	A	T	7: 20,786,934 (GRCm39)	I259N	possibly damaging	Het
Vmn1r64	G	A	7: 5,887,522 (GRCm39)	T7I	probably benign	Het

Other mutations in Tcea3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Tcea3	APN	4	136,001,003 (GRCm39)	missense	probably damaging	1.00
IGL01647:Tcea3	APN	4	136,002,087 (GRCm39)	splice site	probably benign
IGL02153:Tcea3	APN	4	136,000,945 (GRCm39)	splice site	probably benign
IGL02832:Tcea3	APN	4	135,995,424 (GRCm39)	missense	probably damaging	1.00
IGL02951:Tcea3	APN	4	135,985,299 (GRCm39)	critical splice donor site	probably null
R0281:Tcea3	UTSW	4	135,998,677 (GRCm39)	missense	probably damaging	1.00
R0646:Tcea3	UTSW	4	135,975,382 (GRCm39)	nonsense	probably null
R3937:Tcea3	UTSW	4	135,982,454 (GRCm39)	splice site	probably benign
R4944:Tcea3	UTSW	4	135,995,404 (GRCm39)	missense	probably damaging	1.00
R5028:Tcea3	UTSW	4	135,985,246 (GRCm39)	missense	possibly damaging	0.87
R5169:Tcea3	UTSW	4	135,992,181 (GRCm39)	critical splice acceptor site	probably null
R5245:Tcea3	UTSW	4	135,991,813 (GRCm39)	missense	probably benign	0.01
R5511:Tcea3	UTSW	4	135,998,683 (GRCm39)	missense	probably damaging	1.00
R6208:Tcea3	UTSW	4	135,975,360 (GRCm39)	start codon destroyed	probably damaging	0.96
R7106:Tcea3	UTSW	4	135,998,679 (GRCm39)	missense	probably damaging	1.00
R8018:Tcea3	UTSW	4	135,985,229 (GRCm39)	splice site	probably benign
R8076:Tcea3	UTSW	4	135,995,440 (GRCm39)	missense	probably damaging	1.00
R8078:Tcea3	UTSW	4	135,981,825 (GRCm39)	missense	probably damaging	0.99
R8158:Tcea3	UTSW	4	136,001,027 (GRCm39)	critical splice donor site	probably null
R8861:Tcea3	UTSW	4	135,981,810 (GRCm39)	missense	probably damaging	1.00
R9495:Tcea3	UTSW	4	135,991,885 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AATGTGTGGAGATGCTGTCAGC -3'
(R):5'- CCAAGAGCAATGTCAGCTGC -3'

Sequencing Primer
(F):5'- CAGCAGCTCTGAAGGCAG -3'
(R):5'- AATGTCAGCTGCGCTCAG -3'

Posted On

2017-01-03