Mutagenetix > Incidental Mutation

Incidental Mutation 'R0031:Tcp11l2'

18637

Institutional Source

Beutler Lab

Gene Symbol

Tcp11l2

Ensembl Gene

ENSMUSG00000020034

Gene Name

t-complex 11 (mouse) like 2

Synonyms

E430026E19Rik

MMRRC Submission

038325-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0031 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

84576626-84614359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84591140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 156 (C156F)

Ref Sequence

ENSEMBL: ENSMUSP00000020223 (fasta)

Gene Model

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

AlphaFold

Q8K1H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020223
AA Change: C156F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: C156F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162874

Meta Mutation Damage Score

0.1764

Coding Region Coverage

1x: 81.0%
3x: 73.5%
10x: 52.2%
20x: 32.1%

Validation Efficiency

93% (95/102)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,973,712	K1015M	probably damaging	Het
Abcb11	G	A	2: 69,285,308	R571C	probably damaging	Het
Agr3	T	C	12: 35,947,591	M100T	probably benign	Het
Ankrd7	T	A	6: 18,870,008	Y253*	probably null	Het
Atp2c2	A	T	8: 119,749,062	T565S	probably benign	Het
C330027C09Rik	C	T	16: 49,017,373	S812F	probably benign	Het
Ccdc88b	G	T	19: 6,853,783	S597Y	possibly damaging	Het
Celsr2	T	C	3: 108,413,063	N811S	probably damaging	Het
Cep170	A	T	1: 176,756,091	D907E	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Cmss1	T	G	16: 57,311,249		probably null	Het
Cobl	T	C	11: 12,254,945	T579A	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Csrp2	C	T	10: 110,938,740	S172L	probably benign	Het
Fip1l1	T	C	5: 74,557,109	S235P	probably damaging	Het
Gbgt1	T	A	2: 28,498,450		probably benign	Het
Gml2	T	C	15: 74,824,276	I173T	probably benign	Het
Gucy2c	T	A	6: 136,697,999	I1005F	probably damaging	Het
Irak3	T	A	10: 120,176,320	K88*	probably null	Het
Klc1	T	C	12: 111,777,033	Y265H	probably damaging	Het
Lamb1	G	A	12: 31,301,156	V754I	probably benign	Het
Lrguk	A	T	6: 34,043,496	Q58H	probably damaging	Het
Lyst	A	G	13: 13,708,156	D2902G	probably benign	Het
Mtpap	T	A	18: 4,383,244	I207N	probably damaging	Het
Ncdn	A	T	4: 126,750,108		probably null	Het
Nup160	A	G	2: 90,717,587		probably null	Het
Ormdl1	A	G	1: 53,299,159		probably benign	Het
Pde5a	A	G	3: 122,803,055	M432V	probably benign	Het
Pikfyve	T	A	1: 65,215,929		probably benign	Het
Plcb2	A	G	2: 118,715,461	V581A	probably benign	Het
Plpp6	T	A	19: 28,964,843	N281K	probably benign	Het
Pwp1	T	C	10: 85,885,896	I422T	probably benign	Het
Rims1	T	C	1: 22,296,879	N1199S	probably damaging	Het
Sema3c	T	C	5: 17,694,728	L406P	probably damaging	Het
Senp6	C	T	9: 80,126,243	P84L	probably damaging	Het
Setx	A	G	2: 29,176,929	I2361V	probably benign	Het
Slc25a12	C	T	2: 71,333,614	V106M	possibly damaging	Het
Slc3a1	A	G	17: 85,032,846	Y232C	probably damaging	Het
Taf1c	A	T	8: 119,599,090	C678S	probably benign	Het
Tmem62	A	G	2: 120,999,113	T316A	probably benign	Het
Ulk4	A	G	9: 121,272,982	I10T	probably damaging	Het
Vps54	T	C	11: 21,312,899	I824T	probably damaging	Het
Wdfy3	A	T	5: 101,889,295	V2042E	probably damaging	Het
Wfdc6b	A	T	2: 164,613,859	E36V	probably damaging	Het
Xpc	C	T	6: 91,491,226	A860T	probably benign	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
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
R2251:Tcp11l2	UTSW	10	84605069	critical splice donor site	probably null
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

Posted On

2013-03-25