Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03325:Tcp11l2'

416612

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcp11l2

Ensembl Gene

ENSMUSG00000020034

Gene Name

t-complex 11 (mouse) like 2

Synonyms

E430026E19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL03325

Quality Score

Status

Chromosome

Chromosomal Location

84576626-84614359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84604900 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 323 (D323E)

Ref Sequence

ENSEMBL: ENSMUSP00000020223 (fasta)

Gene Model

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

AlphaFold

Q8K1H7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020223
AA Change: D323E

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: D323E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	A	T	14: 49,243,820		probably benign	Het
4930435E12Rik	A	T	16: 38,827,993	S251R	probably damaging	Het
Abca8b	G	A	11: 109,953,596	R870C	possibly damaging	Het
Abcf2	A	T	5: 24,574,212	L113I	probably damaging	Het
Abi1	C	T	2: 22,971,228	R106Q	probably damaging	Het
Arhgef28	A	G	13: 97,899,816	V1645A	probably benign	Het
Ceacam1	G	A	7: 25,476,487	A94V	possibly damaging	Het
Fat2	G	A	11: 55,282,342	T2515I	probably damaging	Het
Gm4951	T	A	18: 60,245,811	Y139*	probably null	Het
Gm5800	T	C	14: 51,714,526	Y93C	probably benign	Het
Gnl1	A	G	17: 35,988,656	D573G	probably damaging	Het
Gosr1	A	G	11: 76,754,403	M105T	probably benign	Het
Gramd1c	A	T	16: 44,005,505	Y303N	probably benign	Het
Heatr9	A	G	11: 83,513,259		probably null	Het
Itih2	T	C	2: 10,106,735	D464G	probably damaging	Het
Jcad	T	C	18: 4,673,902	Y555H	probably benign	Het
Krtap19-3	A	T	16: 88,877,721	*88R	probably null	Het
Mrps11	T	C	7: 78,790,705	F114S	probably damaging	Het
Nat8	A	T	6: 85,830,893	V86E	possibly damaging	Het
Nek5	T	C	8: 22,079,142	T555A	probably benign	Het
Olfr788	A	T	10: 129,473,605	K304N	probably benign	Het
Pprc1	C	T	19: 46,061,509	T10I	possibly damaging	Het
Prss16	A	G	13: 22,003,247	V409A	possibly damaging	Het
Sema3d	T	A	5: 12,463,222	L53Q	probably damaging	Het
Sfmbt2	T	C	2: 10,577,817	Y696H	probably damaging	Het
Sh2d3c	C	T	2: 32,725,258	A120V	probably benign	Het
Smn1	A	G	13: 100,127,857	Y32C	probably damaging	Het
Sun2	C	T	15: 79,738,648	R110Q	probably benign	Het
Tnni3k	A	T	3: 154,961,814	S296R	probably damaging	Het
Uck1	G	A	2: 32,258,322	R161C	probably benign	Het
Unc79	T	A	12: 103,169,610	S2435T	probably damaging	Het
Vmn2r114	C	A	17: 23,291,678	K609N	probably damaging	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
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
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

2016-08-02