Mutagenetix > Incidental Mutation

Incidental Mutation 'R9402:Tcerg1l'

711290

Institutional Source

Beutler Lab

Gene Symbol

Tcerg1l

Ensembl Gene

ENSMUSG00000091002

Gene Name

transcription elongation regulator 1-like

Synonyms

5730476P14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138208974-138397730 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138209822 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 548 (K548E)

Ref Sequence

ENSEMBL: ENSMUSP00000124476 (fasta)

Gene Model

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

AlphaFold

Q3B807

Predicted Effect

probably damaging
Transcript: ENSMUST00000160436
AA Change: K548E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124476
Gene: ENSMUSG00000091002
AA Change: K548E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	G	1: 136,227,610	S86R	probably benign	Het
Abca9	T	A	11: 110,158,328	Q218L	probably benign	Het
Atg2b	A	G	12: 105,648,423	F1083S	probably damaging	Het
Bche	T	C	3: 73,701,323	N257D	probably benign	Het
Cfap221	T	A	1: 119,932,821	M692L	probably benign	Het
Cfap46	G	T	7: 139,635,949	P1530Q	unknown	Het
Crim1	CCGC	CC	17: 78,350,865		probably null	Het
Cyp4f39	T	C	17: 32,491,209		probably null	Het
Daam1	A	G	12: 71,959,830	T674A	probably benign	Het
Elp2	A	T	18: 24,626,163	I526L	probably benign	Het
Exoc4	T	A	6: 33,476,143	*523K	probably null	Het
Fbxl7	G	A	15: 26,552,503	S226L	probably damaging	Het
Fry	G	A	5: 150,433,696	E1903K	possibly damaging	Het
Fry	G	A	5: 150,436,853	R1988K	probably damaging	Het
Gas1	A	T	13: 60,176,202	M206K	probably damaging	Het
Gbp10	T	A	5: 105,233,997	T96S	possibly damaging	Het
Gm14569	G	A	X: 36,430,896	P1387S	probably damaging	Het
Gpaa1	A	G	15: 76,332,218	T105A	probably benign	Het
Hoxc13	C	A	15: 102,921,616	C143*	probably null	Het
Htt	T	C	5: 34,848,980	I1411T	probably damaging	Het
Jmy	C	T	13: 93,499,170	C46Y	probably damaging	Het
Klhl40	A	G	9: 121,780,416	Y453C	possibly damaging	Het
Krit1	T	A	5: 3,822,210	Y460N	possibly damaging	Het
Lamb3	C	A	1: 193,331,396	T526K		Het
Lrrc29	T	A	8: 105,323,356	Y12F	probably benign	Het
Luzp1	T	A	4: 136,543,182	H905Q	probably damaging	Het
Lyst	T	A	13: 13,637,878	H958Q	probably benign	Het
Magi1	T	C	6: 94,283,297	N9S	probably benign	Het
Mmadhc	A	T	2: 50,281,107	V231E	probably benign	Het
Muc5b	T	A	7: 141,845,414	M364K	unknown	Het
Nae1	A	G	8: 104,528,185		probably null	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nlgn2	A	G	11: 69,828,107	F252S		Het
Nlrp9a	A	T	7: 26,570,605	N874I	possibly damaging	Het
Nodal	T	C	10: 61,423,600	I272T	probably damaging	Het
Olfr1234	C	A	2: 89,362,779	G217*	probably null	Het
Olfr1259	A	T	2: 89,943,940	Y58*	probably null	Het
Olfr599	T	C	7: 103,338,989	S312P	probably benign	Het
Olfr645	G	A	7: 104,084,403	R226*	probably null	Het
Orm1	C	A	4: 63,345,132	Q61K	possibly damaging	Het
Pcdh17	T	C	14: 84,447,206	V371A	probably damaging	Het
Pcdhb19	C	T	18: 37,499,479	Q776*	probably null	Het
Phf14	A	G	6: 11,933,780	R214G	possibly damaging	Het
Phf3	G	A	1: 30,811,847	T1142M	probably damaging	Het
Pigz	A	G	16: 31,945,369	E415G	probably damaging	Het
Pramel5	T	C	4: 144,271,456	T406A	probably benign	Het
Prtg	A	G	9: 72,911,971	E1082G	probably benign	Het
Rtp3	A	G	9: 110,985,963	C445R	unknown	Het
Scn3b	A	T	9: 40,282,556	E193V	probably damaging	Het
Scn7a	A	T	2: 66,680,112	N1315K	probably damaging	Het
Snx14	C	T	9: 88,407,437	G254D	probably damaging	Het
Srbd1	T	C	17: 86,099,277	D560G	probably benign	Het
Srp72	T	A	5: 76,976,482	L65*	probably null	Het
Steap1	T	A	5: 5,740,664	I95F		Het
Taf3	A	G	2: 9,951,112		probably null	Het
Taok2	T	C	7: 126,870,228	N1143D		Het
Tas2r114	C	T	6: 131,689,931	G45S	possibly damaging	Het
Tcp1	T	A	17: 12,922,618	L328Q	probably benign	Het
Tns2	A	G	15: 102,113,188	H1096R	probably damaging	Het
Trps1	A	T	15: 50,846,256	Y233N	probably damaging	Het
Tubgcp6	A	G	15: 89,102,861	V1303A	probably benign	Het
Ugt1a2	T	C	1: 88,200,962	F109S	possibly damaging	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Zfp748	A	G	13: 67,545,392	V54A	probably benign	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
R0378:Tcerg1l	UTSW	7	138276655	missense	probably benign	0.01
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
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'- CTAAGTTCCTCCAAGCGCAC -3'
(R):5'- AGCATCAGAGATAGGCCTCCTC -3'

Sequencing Primer
(F):5'- AGCGCACACTCAGCTGC -3'
(R):5'- TCCTCCGGAGACCAGAGATATG -3'

Posted On

2022-05-16