Mutagenetix > Incidental Mutation

Incidental Mutation 'R7557:Tcea1'

584817

Institutional Source

Beutler Lab

Gene Symbol

Tcea1

Ensembl Gene

ENSMUSG00000033813

Gene Name

transcription elongation factor A (SII) 1

Synonyms

S-II

MMRRC Submission

045652-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7557 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4928037-4968132 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 4965213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 294 (C294*)

Ref Sequence

ENSEMBL: ENSMUSP00000080266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081551] [ENSMUST00000165720]

AlphaFold

P10711

Predicted Effect

probably null
Transcript: ENSMUST00000081551
AA Change: C294*

SMART Domains

Protein: ENSMUSP00000080266
Gene: ENSMUSG00000033813
AA Change: C294*

Domain	Start	End	E-Value	Type
TFS2N	5	79	2.56e-31	SMART
low complexity region	83	93	N/A	INTRINSIC
low complexity region	100	115	N/A	INTRINSIC
TFS2M	138	239	1.32e-44	SMART
ZnF_C2C2	261	300	3.6e-21	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000165720
AA Change: C305*

SMART Domains

Protein: ENSMUSP00000129157
Gene: ENSMUSG00000033813
AA Change: C305*

Domain	Start	End	E-Value	Type
Pfam:Med26	38	88	1.1e-18	PFAM
low complexity region	94	104	N/A	INTRINSIC
low complexity region	111	126	N/A	INTRINSIC
TFS2M	149	250	1.32e-44	SMART
ZnF_C2C2	272	311	3.6e-21	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display impaired definitive erythropoiesis with loss of late stage erythroblasts, fetal liver hypoplasia, and embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,044 (GRCm39)	Q1078*	probably null	Het
Aatk	T	C	11: 119,900,256 (GRCm39)	K1310R	possibly damaging	Het
Acaa2	C	T	18: 74,928,230 (GRCm39)	T153M	possibly damaging	Het
Add3	A	G	19: 53,227,868 (GRCm39)	T518A	probably damaging	Het
Cacnb4	T	C	2: 52,359,579 (GRCm39)	E143G	probably damaging	Het
Cd209a	T	A	8: 3,795,541 (GRCm39)	T177S	probably benign	Het
Chp1	T	A	2: 119,391,238 (GRCm39)	Y32N	probably damaging	Het
Clcn3	T	C	8: 61,390,402 (GRCm39)	T180A	probably damaging	Het
Dctn2	C	A	10: 127,114,273 (GRCm39)	T373N	probably benign	Het
Dipk2a	T	C	9: 94,402,591 (GRCm39)	D357G	probably damaging	Het
Ecpas	A	G	4: 58,849,691 (GRCm39)	Y483H	possibly damaging	Het
Emb	T	A	13: 117,386,252 (GRCm39)	N136K	probably benign	Het
Enpp2	A	T	15: 54,773,536 (GRCm39)	C62S	probably damaging	Het
Fbxo28	G	T	1: 182,169,000 (GRCm39)	A52E	unknown	Het
Gask1b	A	T	3: 79,793,915 (GRCm39)	K128*	probably null	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Ggta1	T	C	2: 35,292,548 (GRCm39)	D253G	probably damaging	Het
Gps1	C	T	11: 120,677,193 (GRCm39)	A164V	probably benign	Het
Gramd4	C	T	15: 85,985,101 (GRCm39)	Q146*	probably null	Het
Kcnh5	A	T	12: 75,054,399 (GRCm39)	M515K	possibly damaging	Het
Klrc3	T	C	6: 129,616,107 (GRCm39)	T203A	probably damaging	Het
Krt26	G	T	11: 99,225,567 (GRCm39)	R305S	probably damaging	Het
Lpin1	A	G	12: 16,630,793 (GRCm39)	V35A		Het
Marf1	C	T	16: 13,950,560 (GRCm39)	R942H	probably damaging	Het
Mfhas1	T	A	8: 36,056,758 (GRCm39)	M411K	possibly damaging	Het
Mok	A	G	12: 110,774,833 (GRCm39)	S330P	probably benign	Het
Msto1	A	G	3: 88,817,435 (GRCm39)		probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or10w1	T	A	19: 13,632,390 (GRCm39)	I199N	possibly damaging	Het
Pcdhgb4	T	A	18: 37,855,847 (GRCm39)	C747*	probably null	Het
Pih1d1	A	G	7: 44,806,183 (GRCm39)	T40A	probably benign	Het
Pih1d2	A	T	9: 50,536,216 (GRCm39)	E290D	probably damaging	Het
Plce1	A	G	19: 38,753,848 (GRCm39)	K1849E	probably benign	Het
Plekha5	T	C	6: 140,372,271 (GRCm39)	Y74H	probably damaging	Het
Pole	T	G	5: 110,460,860 (GRCm39)	I1183S	probably damaging	Het
Ptgs1	T	C	2: 36,135,223 (GRCm39)	S396P	possibly damaging	Het
Rasa2	T	C	9: 96,439,478 (GRCm39)	E575G	probably damaging	Het
Sec22b	A	G	3: 97,808,674 (GRCm39)	T5A	probably damaging	Het
Slc18a1	T	A	8: 69,518,213 (GRCm39)	D267V	probably damaging	Het
Smad5	T	C	13: 56,875,282 (GRCm39)	F157L	probably benign	Het
Tut7	T	C	13: 59,936,280 (GRCm39)	I1274V	possibly damaging	Het
Txndc15	T	A	13: 55,865,767 (GRCm39)	M77K	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,475 (GRCm39)	V377D	probably damaging	Het
Vmn2r7	A	G	3: 64,632,394 (GRCm39)	Y23H	probably benign	Het
Vwa3a	T	A	7: 120,394,841 (GRCm39)	M887K	possibly damaging	Het
Zbtb5	T	C	4: 44,995,196 (GRCm39)	N63D	probably damaging	Het

Other mutations in Tcea1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02354:Tcea1	APN	1	4,966,570 (GRCm39)	splice site	probably benign
IGL02361:Tcea1	APN	1	4,966,570 (GRCm39)	splice site	probably benign
IGL02367:Tcea1	APN	1	4,948,356 (GRCm39)	critical splice donor site	probably null
IGL02813:Tcea1	APN	1	4,956,979 (GRCm39)	missense	probably benign	0.06
R0403:Tcea1	UTSW	1	4,959,726 (GRCm39)	missense	probably benign
R0707:Tcea1	UTSW	1	4,950,569 (GRCm39)	intron	probably benign
R1157:Tcea1	UTSW	1	4,959,670 (GRCm39)	splice site	probably null
R3702:Tcea1	UTSW	1	4,965,158 (GRCm39)	missense	probably benign	0.06
R4541:Tcea1	UTSW	1	4,963,659 (GRCm39)	missense	probably damaging	1.00
R4764:Tcea1	UTSW	1	4,965,167 (GRCm39)	missense	probably damaging	1.00
R5428:Tcea1	UTSW	1	4,950,568 (GRCm39)	intron	probably benign
R6005:Tcea1	UTSW	1	4,960,996 (GRCm39)	missense	probably benign	0.03
R6661:Tcea1	UTSW	1	4,928,652 (GRCm39)	intron	probably benign
R6792:Tcea1	UTSW	1	4,962,268 (GRCm39)	missense	probably benign	0.00
R7215:Tcea1	UTSW	1	4,937,706 (GRCm39)	missense	probably damaging	0.98
R7635:Tcea1	UTSW	1	4,959,774 (GRCm39)	missense	probably benign	0.01
R8033:Tcea1	UTSW	1	4,962,141 (GRCm39)	missense	probably damaging	0.98
R8955:Tcea1	UTSW	1	4,959,732 (GRCm39)	missense	probably benign	0.00
R9397:Tcea1	UTSW	1	4,962,141 (GRCm39)	missense	probably damaging	0.98
R9578:Tcea1	UTSW	1	4,961,021 (GRCm39)	critical splice donor site	probably null
Z1177:Tcea1	UTSW	1	4,928,200 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCACATCTTAAGGTAATATCACTGGAG -3'
(R):5'- AACTTGCTTGTATGAGACGAAC -3'

Sequencing Primer
(F):5'- GTAGAATGCTCTTATATGGGTT -3'
(R):5'- TGTTTACTGAAAAGCTACAAACCC -3'

Posted On

2019-10-17