Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01365:Cttnbp2nl'

75913

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cttnbp2nl

Ensembl Gene

ENSMUSG00000062127

Gene Name

CTTNBP2 N-terminal like

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

IGL01365

Quality Score

Status

Chromosome

Chromosomal Location

105001915-105053146 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105005030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 513 (T513A)

Ref Sequence

ENSEMBL: ENSMUSP00000096359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077548] [ENSMUST00000098763] [ENSMUST00000197437]

AlphaFold

Q99LJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000077548
AA Change: T513A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076751
Gene: ENSMUSG00000062127
AA Change: T513A

Domain	Start	End	E-Value	Type
Pfam:CortBP2	1	189	1.9e-60	PFAM
low complexity region	263	278	N/A	INTRINSIC
low complexity region	401	434	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	578	586	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098763
AA Change: T513A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096359
Gene: ENSMUSG00000062127
AA Change: T513A

Domain	Start	End	E-Value	Type
Pfam:CortBP2	2	188	8.5e-71	PFAM
low complexity region	263	278	N/A	INTRINSIC
low complexity region	401	434	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	578	586	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197437

SMART Domains

Protein: ENSMUSP00000143282
Gene: ENSMUSG00000062127

Domain	Start	End	E-Value	Type
Pfam:CortBP2	1	167	7.7e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199002

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	G	T	8: 83,723,889		probably null	Het
Agtr1a	A	G	13: 30,381,828	Y292C	probably damaging	Het
Btbd11	T	C	10: 85,633,816	V867A	possibly damaging	Het
CK137956	A	G	4: 127,951,342	S203P	probably benign	Het
Cnbd1	C	T	4: 18,860,576	G390D	probably damaging	Het
Dppa2	A	G	16: 48,313,913	K67R	possibly damaging	Het
Kif3a	A	G	11: 53,593,523	K486E	possibly damaging	Het
Lmnb2	G	T	10: 80,904,984	Q151K	probably benign	Het
Lmtk3	T	A	7: 45,790,907	L223Q	probably damaging	Het
Lrrk1	A	G	7: 66,287,701	I901T	probably damaging	Het
Macf1	T	C	4: 123,391,169	Y3624C	probably damaging	Het
Mios	T	A	6: 8,216,089	Y428*	probably null	Het
Myb	A	G	10: 21,152,502	I154T	probably benign	Het
Olfr294	T	C	7: 86,615,997	Y216C	probably damaging	Het
Parp9	C	T	16: 35,947,954	T168I	possibly damaging	Het
Pramel7	T	C	2: 87,491,413		probably benign	Het
Ptar1	T	A	19: 23,705,801	W140R	probably damaging	Het
Sec14l2	G	T	11: 4,098,317	D400E	probably benign	Het
Setd3	A	T	12: 108,157,906	Y175N	probably damaging	Het
Slc5a8	C	T	10: 88,892,097		probably benign	Het
Slc8a3	A	G	12: 81,315,376	V223A	probably damaging	Het
Srsf1	G	T	11: 88,049,181	R173L	possibly damaging	Het
Svep1	T	A	4: 58,100,878		probably null	Het
Tead2	T	A	7: 45,217,251	D11E	probably damaging	Het
Trappc12	T	A	12: 28,747,402	I44F	probably damaging	Het
Ttll9	T	C	2: 153,000,134	Y303H	possibly damaging	Het
Vmn1r28	T	A	6: 58,265,191	N6K	possibly damaging	Het

Other mutations in Cttnbp2nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01832:Cttnbp2nl	APN	3	105011228	missense	probably damaging	1.00
IGL02070:Cttnbp2nl	APN	3	105011266	missense	probably damaging	1.00
R0131:Cttnbp2nl	UTSW	3	105005857	missense	probably damaging	1.00
R0131:Cttnbp2nl	UTSW	3	105005857	missense	probably damaging	1.00
R0132:Cttnbp2nl	UTSW	3	105005857	missense	probably damaging	1.00
R1919:Cttnbp2nl	UTSW	3	105011278	missense	possibly damaging	0.51
R3766:Cttnbp2nl	UTSW	3	105004801	missense	probably benign	0.27
R3964:Cttnbp2nl	UTSW	3	105006005	missense	probably damaging	1.00
R4509:Cttnbp2nl	UTSW	3	105032747	missense	probably damaging	1.00
R4597:Cttnbp2nl	UTSW	3	105005875	missense	possibly damaging	0.76
R4820:Cttnbp2nl	UTSW	3	105011324	missense	probably benign	0.00
R5233:Cttnbp2nl	UTSW	3	105005041	missense	probably damaging	1.00
R6230:Cttnbp2nl	UTSW	3	105011339	missense	probably damaging	0.99
R6385:Cttnbp2nl	UTSW	3	105005636	missense	probably benign	0.41
R6551:Cttnbp2nl	UTSW	3	105005117	missense	possibly damaging	0.92
R6685:Cttnbp2nl	UTSW	3	105005498	missense	probably benign	0.06
R6883:Cttnbp2nl	UTSW	3	105011191	critical splice donor site	probably null
R7262:Cttnbp2nl	UTSW	3	105032746	missense	probably damaging	1.00
R7509:Cttnbp2nl	UTSW	3	105032730	missense	possibly damaging	0.94
R7619:Cttnbp2nl	UTSW	3	105004760	missense	possibly damaging	0.73
R7978:Cttnbp2nl	UTSW	3	105007991	missense	probably damaging	0.99
R8115:Cttnbp2nl	UTSW	3	105006086	missense	probably damaging	1.00
X0060:Cttnbp2nl	UTSW	3	105005218	missense	probably damaging	1.00

Posted On

2013-10-07