Mutagenetix > Incidental Mutation

Incidental Mutation 'R0378:Tcerg1l'

36468

Institutional Source

Beutler Lab

Gene Symbol

Tcerg1l

Ensembl Gene

ENSMUSG00000091002

Gene Name

transcription elongation regulator 1-like

Synonyms

5730476P14Rik

MMRRC Submission

038584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0378 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138208974-138397730 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138276655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 326 (V326A)

Ref Sequence

ENSEMBL: ENSMUSP00000124476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160436]

AlphaFold

Q3B807

Predicted Effect

probably benign
Transcript: ENSMUST00000160436
AA Change: V326A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000124476
Gene: ENSMUSG00000091002
AA Change: V326A

Domain	Start	End	E-Value	Type
low complexity region	6	44	N/A	INTRINSIC
low complexity region	52	97	N/A	INTRINSIC
WW	146	178	2.11e1	SMART
low complexity region	235	249	N/A	INTRINSIC
WW	344	376	3.29e-4	SMART
low complexity region	402	415	N/A	INTRINSIC
FF	454	507	4.57e-12	SMART
FF	520	574	1.53e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162222

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 94.8%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 113,743,117	R651L	probably damaging	Het
Amd1	T	C	10: 40,289,384	D317G	possibly damaging	Het
Artn	A	G	4: 117,927,618		probably benign	Het
Asna1	A	T	8: 85,025,264	M1K	probably null	Het
Bub1b	T	A	2: 118,641,123	V988E	probably benign	Het
Cyp2c65	G	T	19: 39,073,218	C216F	probably benign	Het
Cyp3a11	T	C	5: 145,868,607	E200G	probably benign	Het
Cyp3a25	T	A	5: 145,986,842	K330N	probably damaging	Het
Duox2	C	A	2: 122,284,583	V1138L	probably benign	Het
Erc2	A	G	14: 28,011,694	D567G	probably damaging	Het
Eri2	A	G	7: 119,793,916		probably null	Het
Foxa3	A	G	7: 19,023,369	Y17H	probably damaging	Het
Fto	T	C	8: 91,474,312	S324P	probably damaging	Het
Gls2	T	G	10: 128,207,311	L457R	probably benign	Het
Gstcd	A	T	3: 132,986,408	L582H	probably damaging	Het
Gtf3c1	G	A	7: 125,647,614	R1508*	probably null	Het
Kif21a	T	C	15: 90,969,774		probably null	Het
Klra5	A	T	6: 129,906,614	D93E	possibly damaging	Het
Lgr5	T	C	10: 115,454,499	D456G	probably damaging	Het
Mau2	A	G	8: 70,030,655	S186P	probably damaging	Het
Msr1	T	C	8: 39,589,382	D384G	possibly damaging	Het
Mum1	C	A	10: 80,238,879		probably null	Het
Ncf4	T	C	15: 78,253,303	V93A	probably damaging	Het
Oas1f	T	G	5: 120,856,426	C337G	probably damaging	Het
Olfr119	A	G	17: 37,701,041	M124V	probably damaging	Het
Olfr482	A	T	7: 108,095,222	F116Y	probably benign	Het
Olfr820	T	A	10: 130,018,003	L214H	probably damaging	Het
Rasl10b	T	C	11: 83,418,693	S159P	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Smg8	C	A	11: 87,080,423	D841Y	probably damaging	Het
Sox7	T	C	14: 63,943,949	V65A	probably damaging	Het
Sp140	C	T	1: 85,620,051		probably benign	Het
Srsf10	A	G	4: 135,863,190	Y142C	possibly damaging	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcl1b5	T	A	12: 105,179,067	W97R	probably damaging	Het
Tmem108	T	C	9: 103,499,657	R198G	possibly damaging	Het
Ube2ql1	T	A	13: 69,738,898	Q148L	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,585	I82L	probably benign	Het
Wdr6	A	T	9: 108,575,864	S273R	probably damaging	Het
Ylpm1	C	T	12: 84,997,076		probably benign	Het
Zfp90	G	A	8: 106,425,506	R617Q	possibly damaging	Het

Other mutations in Tcerg1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Tcerg1l	APN	7	138209804	missense	probably damaging	0.99
IGL01402:Tcerg1l	APN	7	138259839	missense	probably damaging	0.98
IGL01510:Tcerg1l	APN	7	138394305	splice site	probably benign
IGL01638:Tcerg1l	APN	7	138280076	missense	probably damaging	1.00
IGL01710:Tcerg1l	APN	7	138395060	missense	possibly damaging	0.81
IGL02547:Tcerg1l	APN	7	138248371	critical splice donor site	probably null
IGL02887:Tcerg1l	APN	7	138229890	missense	probably damaging	1.00
IGL03105:Tcerg1l	APN	7	138248444	splice site	probably benign
IGL03348:Tcerg1l	APN	7	138213371	missense	probably damaging	0.97
R1474:Tcerg1l	UTSW	7	138280075	missense	probably damaging	0.99
R1589:Tcerg1l	UTSW	7	138361767	missense	probably damaging	0.99
R1658:Tcerg1l	UTSW	7	138394180	missense	probably damaging	0.98
R1792:Tcerg1l	UTSW	7	138361866	missense	probably benign	0.07
R1807:Tcerg1l	UTSW	7	138395097	missense	probably benign	0.34
R2920:Tcerg1l	UTSW	7	138248379	missense	probably damaging	0.99
R3148:Tcerg1l	UTSW	7	138259867	missense	probably benign
R4106:Tcerg1l	UTSW	7	138259944	missense	probably damaging	0.99
R4180:Tcerg1l	UTSW	7	138276676	critical splice acceptor site	probably null
R4241:Tcerg1l	UTSW	7	138397632	missense	unknown
R4898:Tcerg1l	UTSW	7	138218057	missense	probably damaging	0.99
R5652:Tcerg1l	UTSW	7	138280046	missense	probably damaging	0.97
R6646:Tcerg1l	UTSW	7	138395183	splice site	probably null
R6824:Tcerg1l	UTSW	7	138394115	critical splice donor site	probably null
R7414:Tcerg1l	UTSW	7	138218057	missense	probably damaging	0.97
R7490:Tcerg1l	UTSW	7	138259828	missense	probably damaging	1.00
R8810:Tcerg1l	UTSW	7	138209797	missense	possibly damaging	0.79
R8889:Tcerg1l	UTSW	7	138397531	nonsense	probably null
R8892:Tcerg1l	UTSW	7	138397531	nonsense	probably null
R9146:Tcerg1l	UTSW	7	138229859	missense	probably damaging	1.00
R9374:Tcerg1l	UTSW	7	138394269	missense	possibly damaging	0.95
R9392:Tcerg1l	UTSW	7	138213435	missense	probably damaging	0.98
R9402:Tcerg1l	UTSW	7	138209822	missense	probably damaging	0.99
R9428:Tcerg1l	UTSW	7	138209761	missense	probably damaging	0.99
R9551:Tcerg1l	UTSW	7	138394269	missense	possibly damaging	0.95
R9552:Tcerg1l	UTSW	7	138394269	missense	possibly damaging	0.95
R9572:Tcerg1l	UTSW	7	138280058	missense	probably benign	0.07
R9624:Tcerg1l	UTSW	7	138394194	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- AGAACGCGCTTTCTCTCTGATGAC -3'
(R):5'- GAGACTGCTTCTTGTGGATCACCC -3'

Sequencing Primer
(F):5'- CTGATGACATTAAGCAGACTCTGG -3'
(R):5'- AGTGTAGGCCATTGTCAACC -3'

Posted On

2013-05-09