Mutagenetix > Incidental Mutation

Incidental Mutation 'R5245:Tcea3'

401100

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

042816-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.288) question?

Stock #

R5245 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135975253-136002214 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135991813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 166 (T166A)

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: T166A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099592
Gene: ENSMUSG00000001604
AA Change: T166A

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

Meta Mutation Damage Score

0.0588

Coding Region Coverage

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

Validation Efficiency

100% (51/51)

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
Tdrp	A	T	8: 14,024,479 (GRCm39)		probably benign	Het
Tent5a	G	T	9: 85,208,401 (GRCm39)	Q160K	possibly damaging	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 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
R5511:Tcea3	UTSW	4	135,998,683 (GRCm39)	missense	probably damaging	1.00
R5730:Tcea3	UTSW	4	135,992,204 (GRCm39)	missense	probably benign	0.00
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'- TATGAGTAGCACCTGCCTCAGAG -3'
(R):5'- AATGGTGTCTCACTGGCTGC -3'

Sequencing Primer
(F):5'- ACCTGCCTCAGAGAGTGGTTG -3'
(R):5'- GTCTCACTGGCTGCTTCCTC -3'

Posted On

2016-07-06