Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02404:Cnbd1'

292014

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnbd1

Ensembl Gene

ENSMUSG00000073991

Gene Name

cyclic nucleotide binding domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02404

Quality Score

Status

Chromosome

Chromosomal Location

18860454-19122526 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18895047 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 232 (S232G)

Ref Sequence

ENSEMBL: ENSMUSP00000121576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000137780]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133363

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137780
AA Change: S232G

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121576
Gene: ENSMUSG00000073991
AA Change: S232G

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
Blast:cNMP	166	225	6e-6	BLAST
SCOP:d1cx4a1	296	430	3e-13	SMART
Blast:cNMP	318	429	2e-60	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,187,284	I662T	possibly damaging	Het
Adcy6	T	C	15: 98,596,938	I745V	probably benign	Het
Alppl2	A	G	1: 87,088,863	V163A	possibly damaging	Het
Atad2b	T	A	12: 4,941,972	S190R	probably benign	Het
Cep68	A	G	11: 20,240,004	V336A	possibly damaging	Het
Clcn4	A	C	7: 7,287,858	N587K	probably benign	Het
Clic1	A	G	17: 35,052,876	E82G	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Daw1	A	G	1: 83,197,231	T151A	probably benign	Het
Dysf	A	G	6: 84,116,061	E1052G	probably damaging	Het
Gpr12	G	A	5: 146,583,923	A63V	probably damaging	Het
Inmt	C	T	6: 55,171,110	R178Q	possibly damaging	Het
Metap1	A	T	3: 138,489,308	C22S	probably damaging	Het
Mst1r	A	T	9: 107,913,067		probably benign	Het
Olfr699	A	C	7: 106,790,359	I214S	probably damaging	Het
Phkb	T	C	8: 85,878,115	S58P	possibly damaging	Het
Pigs	T	A	11: 78,340,031	I368N	probably benign	Het
Plekhm1	C	T	11: 103,394,998	D204N	probably benign	Het
Pot1a	A	T	6: 25,764,432		probably benign	Het
Rps4l	A	G	6: 148,354,779		probably benign	Het
Scn8a	T	A	15: 101,039,730	M1660K	probably damaging	Het
Sec31b	A	C	19: 44,534,788	V23G	probably damaging	Het
Sorcs3	T	C	19: 48,704,370		probably benign	Het
Thap12	A	G	7: 98,710,133	Y73C	probably damaging	Het
Thsd7b	G	A	1: 129,613,151	C254Y	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Ttn	T	A	2: 76,939,978	N2623I	possibly damaging	Het
Ulk1	A	T	5: 110,796,234		probably null	Het
Vps13d	T	C	4: 145,148,735	Y1734C	probably damaging	Het
Vsig10l	A	G	7: 43,463,747	D143G	possibly damaging	Het
Wac	A	G	18: 7,917,570	T347A	probably damaging	Het
Wdr62	G	T	7: 30,267,873	R319S	probably damaging	Het
Zfp668	T	C	7: 127,866,360	K551E	probably damaging	Het

Other mutations in Cnbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Cnbd1	APN	4	18906988	splice site	probably benign
IGL01101:Cnbd1	APN	4	18907098	missense	probably benign	0.30
IGL01365:Cnbd1	APN	4	18860576	missense	probably damaging	1.00
IGL01646:Cnbd1	APN	4	18895141	nonsense	probably null
IGL02106:Cnbd1	APN	4	18894993	missense	possibly damaging	0.55
IGL02218:Cnbd1	APN	4	18887739	missense	probably benign	0.00
IGL02335:Cnbd1	APN	4	19055095	missense	possibly damaging	0.87
IGL02380:Cnbd1	APN	4	18887748	critical splice acceptor site	probably null
IGL02380:Cnbd1	APN	4	18887749	critical splice acceptor site	probably null
IGL03293:Cnbd1	APN	4	18860565	missense	possibly damaging	0.65
IGL03301:Cnbd1	APN	4	19055039	missense	probably benign	0.00
IGL03342:Cnbd1	APN	4	19098264	splice site	probably benign
IGL03392:Cnbd1	APN	4	18862111	missense	probably damaging	1.00
R0062:Cnbd1	UTSW	4	18860504	missense	possibly damaging	0.65
R0062:Cnbd1	UTSW	4	18860504	missense	possibly damaging	0.65
R0195:Cnbd1	UTSW	4	18906988	splice site	probably benign
R0462:Cnbd1	UTSW	4	18895044	missense	probably benign	0.01
R0909:Cnbd1	UTSW	4	19122444	missense	probably benign
R1435:Cnbd1	UTSW	4	18907026	missense	probably benign	0.00
R1995:Cnbd1	UTSW	4	19055112	missense	possibly damaging	0.55
R2495:Cnbd1	UTSW	4	18860579	missense	probably damaging	1.00
R3974:Cnbd1	UTSW	4	18887693	missense	probably benign	0.00
R4083:Cnbd1	UTSW	4	18886042	missense	possibly damaging	0.88
R4494:Cnbd1	UTSW	4	19098150	missense	probably benign	0.34
R4558:Cnbd1	UTSW	4	19055095	missense	possibly damaging	0.87
R4833:Cnbd1	UTSW	4	18862120	missense	probably damaging	0.97
R5326:Cnbd1	UTSW	4	18860517	missense	possibly damaging	0.67
R5542:Cnbd1	UTSW	4	18860517	missense	possibly damaging	0.67
R5930:Cnbd1	UTSW	4	18886119	missense	probably benign	0.14
R5958:Cnbd1	UTSW	4	18862056	missense	probably benign	0.31
R6064:Cnbd1	UTSW	4	18895084	missense	probably benign	0.14
R6250:Cnbd1	UTSW	4	19098255	missense	probably benign	0.00
R6348:Cnbd1	UTSW	4	18860462	missense	probably damaging	0.99
R7027:Cnbd1	UTSW	4	18862063	missense	probably benign	0.01

Posted On

2015-04-16