Mutagenetix > Incidental Mutation

Incidental Mutation 'R2251:Tcp11l2'

241688

Institutional Source

Beutler Lab

Gene Symbol

Tcp11l2

Ensembl Gene

ENSMUSG00000020034

Gene Name

t-complex 11 (mouse) like 2

Synonyms

E430026E19Rik

MMRRC Submission

040251-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R2251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84576626-84614359 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 84605069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020223] [ENSMUST00000020223]

AlphaFold

Q8K1H7

Predicted Effect

probably null
Transcript: ENSMUST00000020223

SMART Domains

Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	36	55	N/A	INTRINSIC
Pfam:Tcp11	77	497	5.8e-103	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000020223

SMART Domains

Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	36	55	N/A	INTRINSIC
Pfam:Tcp11	77	497	5.8e-103	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160057

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,142,612	S79F	probably damaging	Het
Abl1	T	A	2: 31,779,119	V170E	probably damaging	Het
Akap13	C	T	7: 75,739,477	T2381M	possibly damaging	Het
Armc8	T	A	9: 99,502,600		probably null	Het
B3gnt3	A	T	8: 71,692,818	M302K	probably damaging	Het
Casp3	G	T	8: 46,637,955	W214L	probably damaging	Het
Cnot1	A	G	8: 95,763,186	V463A	probably benign	Het
Cntn2	T	C	1: 132,525,321	E411G	probably damaging	Het
Dgkg	A	T	16: 22,622,260	M1K	probably null	Het
Faap20	A	C	4: 155,250,553	E37A	possibly damaging	Het
Fam186a	T	C	15: 99,945,097	T1089A	probably benign	Het
Fgb	T	G	3: 83,043,284	T388P	probably damaging	Het
Fndc1	G	A	17: 7,753,607	R1498W	probably damaging	Het
Gch1	T	C	14: 47,189,341		probably benign	Het
Gzf1	T	C	2: 148,683,936	M109T	probably damaging	Het
H2-M10.1	A	C	17: 36,325,606	L102R	probably damaging	Het
Kpna1	T	C	16: 36,021,569	Y280H	possibly damaging	Het
Mbtps2	A	T	X: 157,559,033	F270L	probably benign	Het
Mrpl40	T	C	16: 18,875,375	H29R	probably benign	Het
N4bp2	G	A	5: 65,806,728	V707I	probably damaging	Het
Nav2	A	G	7: 49,453,277	K608E	probably damaging	Het
Nfix	T	C	8: 84,716,170	D458G	probably benign	Het
Ngdn	T	C	14: 55,023,395		probably null	Het
Nr3c1	G	T	18: 39,486,751	T161K	probably benign	Het
Olfr1279	A	G	2: 111,306,310	Y35C	probably damaging	Het
Olfr138	C	T	17: 38,274,903	A44V	probably benign	Het
Olfr672	A	T	7: 104,996,595	M103K	probably damaging	Het
Olfr988	A	G	2: 85,353,858	S23P	possibly damaging	Het
Pbld2	G	T	10: 63,024,605		probably benign	Het
Pkd1l2	T	C	8: 117,057,438	Y700C	probably damaging	Het
Plcb2	T	C	2: 118,723,765	N69S	probably benign	Het
Pwp2	T	A	10: 78,181,088	Q266L	probably benign	Het
Rnf133	T	C	6: 23,649,175	M252V	probably benign	Het
Scn8a	A	G	15: 101,017,106	I1184V	probably benign	Het
Slc7a2	T	C	8: 40,905,621	Y334H	probably benign	Het
Smim11	T	C	16: 92,310,828	Y14H	probably benign	Het
Spata17	A	T	1: 187,048,473	L359Q	possibly damaging	Het
Spn	T	C	7: 127,137,159	K59E	probably benign	Het
Tap2	A	G	17: 34,211,954	S343G	probably damaging	Het
Tlr11	T	A	14: 50,360,792	N78K	probably benign	Het
Tm9sf2	T	A	14: 122,139,731	S224T	probably benign	Het
Trpm1	G	A	7: 64,209,976	G261D	probably damaging	Het
Usp3	T	C	9: 66,562,578	D87G	probably damaging	Het
Vmn1r189	T	C	13: 22,102,548	K40E	probably damaging	Het
Vps45	A	T	3: 96,057,040	D56E	probably benign	Het
Vstm2a	C	A	11: 16,368,273	Q231K	probably benign	Het
Zcchc11	T	A	4: 108,520,208	D938E	probably damaging	Het
Zfp575	A	T	7: 24,585,590	C209S	probably damaging	Het
Zfp768	T	C	7: 127,344,378	T193A	probably benign	Het
Zfp867	T	A	11: 59,465,493	R38*	probably null	Het

Other mutations in Tcp11l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Tcp11l2	APN	10	84594710	missense	possibly damaging	0.82
IGL00845:Tcp11l2	APN	10	84604983	missense	possibly damaging	0.95
IGL02375:Tcp11l2	APN	10	84605068	critical splice donor site	probably null
IGL02418:Tcp11l2	APN	10	84613606	nonsense	probably null
IGL03325:Tcp11l2	APN	10	84604900	missense	possibly damaging	0.76
R0031:Tcp11l2	UTSW	10	84591140	missense	probably damaging	0.98
R0591:Tcp11l2	UTSW	10	84604594	missense	probably benign	0.05
R1563:Tcp11l2	UTSW	10	84584944	missense	probably damaging	0.96
R1607:Tcp11l2	UTSW	10	84613487	missense	probably damaging	1.00
R1840:Tcp11l2	UTSW	10	84604599	missense	probably damaging	0.98
R2144:Tcp11l2	UTSW	10	84613499	missense	probably damaging	1.00
R4289:Tcp11l2	UTSW	10	84605073	splice site	probably null
R4639:Tcp11l2	UTSW	10	84584936	missense	probably damaging	1.00
R4844:Tcp11l2	UTSW	10	84613691	missense	probably benign	0.00
R4973:Tcp11l2	UTSW	10	84591163	missense	probably damaging	0.98
R5264:Tcp11l2	UTSW	10	84613660	missense	probably damaging	1.00
R5970:Tcp11l2	UTSW	10	84594797	splice site	probably benign
R6966:Tcp11l2	UTSW	10	84591269	missense	possibly damaging	0.79
R7250:Tcp11l2	UTSW	10	84587241	critical splice donor site	probably null
R7535:Tcp11l2	UTSW	10	84594659	missense	possibly damaging	0.67
R7565:Tcp11l2	UTSW	10	84587134	missense	probably damaging	1.00
R7619:Tcp11l2	UTSW	10	84594758	missense	probably damaging	1.00
R7774:Tcp11l2	UTSW	10	84604983	missense	possibly damaging	0.95
R8145:Tcp11l2	UTSW	10	84608616	missense	probably damaging	1.00
R8379:Tcp11l2	UTSW	10	84613605	missense	probably damaging	1.00
R8458:Tcp11l2	UTSW	10	84613532	nonsense	probably null
R8821:Tcp11l2	UTSW	10	84613658	missense	probably damaging	1.00
R8831:Tcp11l2	UTSW	10	84613658	missense	probably damaging	1.00
RF008:Tcp11l2	UTSW	10	84613524	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTCATGGCACTGGGCTTC -3'
(R):5'- ACTTCCAACAAGCTGCAGG -3'

Sequencing Primer
(F):5'- TGCTAGACACTCATGACAGATG -3'
(R):5'- TGCAGGACACTGTAGAAAGAG -3'

Posted On

2014-10-16