Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00725:Tcp11l2'

14411

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: 0.080) question?

Stock #

IGL00725

Quality Score

Status

Chromosome

Chromosomal Location

84576626-84614359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84594710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 233 (I233T)

Ref Sequence

ENSEMBL: ENSMUSP00000020223 (fasta)

Gene Model

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

AlphaFold

Q8K1H7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020223
AA Change: I233T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: I233T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11b	G	T	3: 35,827,073	R593L	probably damaging	Het
Axl	A	T	7: 25,764,483	D566E	probably damaging	Het
Ccp110	A	G	7: 118,730,723	D912G	probably damaging	Het
Clca3b	C	T	3: 144,839,162	D355N	probably benign	Het
Clock	A	C	5: 76,254,413	Y133*	probably null	Het
Cntn4	T	A	6: 106,662,655	V582E	probably damaging	Het
Ddx1	A	G	12: 13,227,459		probably benign	Het
Ddx1	A	G	12: 13,245,690	L43P	probably damaging	Het
Dnase2b	G	A	3: 146,596,378	T8I	probably benign	Het
Ermard	T	C	17: 14,988,066		probably benign	Het
Gtf3c2	A	G	5: 31,174,408	V22A	probably damaging	Het
Ifi208	T	C	1: 173,682,861	I194T	possibly damaging	Het
Krt9	T	A	11: 100,190,006	E340V	probably damaging	Het
Nupl1	G	T	14: 60,243,440	T152K	possibly damaging	Het
Otog	A	G	7: 46,274,092	S1050G	probably damaging	Het
Prkdc	A	G	16: 15,816,639	N3580S	probably benign	Het
Rsbn1	T	C	3: 103,928,821	S392P	probably damaging	Het
Sestd1	T	C	2: 77,188,522	I647V	probably benign	Het
Sugct	A	T	13: 17,662,772	S91R	probably damaging	Het
Syne1	A	G	10: 5,344,922	Y1227S	possibly damaging	Het
Synpo	C	T	18: 60,604,077	V27I	probably damaging	Het
Vwde	A	G	6: 13,187,412	V692A	probably benign	Het

Other mutations in Tcp11l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06