Mutagenetix > Incidental Mutation

Incidental Mutation 'R9397:Tcea1'

710867

Institutional Source

Beutler Lab

Gene Symbol

Tcea1

Ensembl Gene

ENSMUSG00000033813

Gene Name

transcription elongation factor A (SII) 1

Synonyms

S-II

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9397 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4928037-4968132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4962141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 176 (I176K)

Ref Sequence

ENSEMBL: ENSMUSP00000080266 (fasta)

Gene Model

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

AlphaFold

P10711

Predicted Effect

probably damaging
Transcript: ENSMUST00000081551
AA Change: I176K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080266
Gene: ENSMUSG00000033813
AA Change: I176K

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

possibly damaging
Transcript: ENSMUST00000165720
AA Change: I187K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129157
Gene: ENSMUSG00000033813
AA Change: I187K

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555G01Rik	T	G	14: 5,051,639 (GRCm38)	V66G	possibly damaging	Het
A630001G21Rik	G	T	1: 85,653,002 (GRCm39)	Y55*	probably null	Het
Abca8a	G	A	11: 109,921,173 (GRCm39)	T1474I	probably damaging	Het
Acaca	T	G	11: 84,259,551 (GRCm39)	I1962S	probably damaging	Het
Acap1	A	T	11: 69,775,672 (GRCm39)	S455T	probably damaging	Het
Acbd7	G	A	2: 3,337,259 (GRCm39)		probably null	Het
Adamts9	A	G	6: 92,878,444 (GRCm39)	L541P	probably damaging	Het
Ankrd49	T	C	9: 14,692,711 (GRCm39)	N151S	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Arhgap27	T	C	11: 103,231,115 (GRCm39)	D58G	probably damaging	Het
Btbd18	G	T	2: 84,497,810 (GRCm39)	A483S	probably damaging	Het
C2	A	G	17: 35,094,965 (GRCm39)	S257P	probably damaging	Het
Catsper3	T	A	13: 55,946,725 (GRCm39)	Y141N	probably damaging	Het
Cfap54	G	A	10: 92,833,147 (GRCm39)	L1160F	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cyp4f14	C	T	17: 33,130,516 (GRCm39)	G141D	probably damaging	Het
Duox1	C	T	2: 122,150,783 (GRCm39)	T286I	possibly damaging	Het
Epc2	G	A	2: 49,378,822 (GRCm39)	G92E	probably damaging	Het
Fmnl3	C	T	15: 99,225,938 (GRCm39)		probably null	Het
Glyatl3	G	A	17: 41,223,565 (GRCm39)	R59*	probably null	Het
Gm3633	T	A	14: 42,460,400 (GRCm39)	Q181L		Het
Guca1b	C	T	17: 47,696,560 (GRCm39)	T49M	probably benign	Het
Hdac9	T	A	12: 34,353,275 (GRCm39)	H645L	probably damaging	Het
Hhip	T	C	8: 80,719,112 (GRCm39)	R472G	probably benign	Het
Ifi203	A	G	1: 173,765,547 (GRCm39)	V9A	probably damaging	Het
Igkv9-123	A	T	6: 67,931,443 (GRCm39)	V41D	probably damaging	Het
Il5ra	T	A	6: 106,721,258 (GRCm39)	T14S	probably benign	Het
Ints2	A	G	11: 86,135,311 (GRCm39)	S368P	probably benign	Het
Kat6b	T	A	14: 21,675,244 (GRCm39)	S470T	possibly damaging	Het
Kmt2d	A	G	15: 98,747,994 (GRCm39)	V3110A	unknown	Het
Lama2	T	C	10: 26,981,117 (GRCm39)	N1846D	probably benign	Het
Lrp1b	T	A	2: 40,640,922 (GRCm39)	E3507D		Het
Ly6g6c	A	G	17: 35,288,317 (GRCm39)	N63S	probably benign	Het
Naprt	C	T	15: 75,763,859 (GRCm39)	V354I	probably null	Het
Nars1	A	G	18: 64,642,327 (GRCm39)	S172P	probably benign	Het
Odr4	C	T	1: 150,238,616 (GRCm39)	A434T	probably damaging	Het
Or6c5b	A	G	10: 129,245,909 (GRCm39)	R225G	possibly damaging	Het
Or7e177	T	C	9: 20,211,748 (GRCm39)	I85T	possibly damaging	Het
Pcdhb6	A	G	18: 37,469,353 (GRCm39)	D758G	probably benign	Het
Pkp4	G	A	2: 59,148,856 (GRCm39)	W536*	probably null	Het
Polr3b	C	T	10: 84,467,653 (GRCm39)	L78F	possibly damaging	Het
Rasa4	T	A	5: 136,129,836 (GRCm39)	V272E	possibly damaging	Het
Syne2	A	G	12: 76,040,849 (GRCm39)	T3836A	possibly damaging	Het
Tbpl2	C	T	2: 23,966,070 (GRCm39)	V308I	possibly damaging	Het
Try5	A	T	6: 41,289,314 (GRCm39)	F87L	probably benign	Het
Ttc8	G	T	12: 98,942,692 (GRCm39)	G411*	probably null	Het
Vmn2r115	G	A	17: 23,564,152 (GRCm39)	W108*	probably null	Het
Zdhhc13	C	T	7: 48,476,628 (GRCm39)	T581I	probably benign	Het
Zfp777	G	T	6: 48,021,190 (GRCm39)	T144K	probably benign	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
R7557:Tcea1	UTSW	1	4,965,213 (GRCm39)	nonsense	probably null
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
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'- CTCTTGCATGCTTTTGACATTAAGC -3'
(R):5'- TATACAGACTTGCTCACCTCTG -3'

Sequencing Primer
(F):5'- GTTGTAAAGAGTAACACTATGACCAG -3'
(R):5'- GCTGTCATTCTAGCAAATAGATCAGG -3'

Posted On

2022-04-18