Mutagenetix > Incidental Mutations

Incidental Mutation 'R2495:Cnbd1'

250937

Institutional Source

Beutler Lab

Gene Symbol

Cnbd1

Ensembl Gene

ENSMUSG00000073991

Gene Name

cyclic nucleotide binding domain containing 1

Synonyms

MMRRC Submission

040409-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2495 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18860454-19122526 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18860579 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 389 (M389K)

Ref Sequence

ENSEMBL: ENSMUSP00000121576 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133363

Predicted Effect

probably damaging
Transcript: ENSMUST00000137780
AA Change: M389K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121576
Gene: ENSMUSG00000073991
AA Change: M389K

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

Meta Mutation Damage Score

0.1694

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,481,960	F125S	unknown	Het
Abhd17c	C	T	7: 84,110,676	W290*	probably null	Het
Acsl5	A	T	19: 55,293,599	K536*	probably null	Het
Adamts14	A	T	10: 61,198,970		probably null	Het
Agbl3	A	G	6: 34,846,764	H788R	probably damaging	Het
Agrp	T	C	8: 105,566,776	N126D	possibly damaging	Het
Ambn	T	C	5: 88,467,804	I349T	probably benign	Het
Ank1	T	C	8: 23,132,264	W1610R	probably damaging	Het
Aox3	T	C	1: 58,188,408	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,029,373		probably benign	Het
Bcl11b	G	A	12: 107,915,447	H798Y	possibly damaging	Het
Capn11	T	A	17: 45,638,763	M426L	probably damaging	Het
Cep95	A	G	11: 106,809,282	K290E	possibly damaging	Het
Cic	A	G	7: 25,291,776		probably benign	Het
Cnksr1	A	T	4: 134,232,162	L387Q	probably benign	Het
Cntrob	G	T	11: 69,322,923	P14T	probably damaging	Het
Crmp1	G	A	5: 37,246,097		probably null	Het
Dido1	A	G	2: 180,689,388	V89A	probably benign	Het
Dnah7a	T	A	1: 53,605,881	I999F	probably damaging	Het
Dsp	T	A	13: 38,193,477	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,199,373	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545	F887L	probably benign	Het
Gm21961	T	A	15: 65,014,873	H11L	unknown	Het
Gm4559	A	T	7: 142,273,820	C182S	unknown	Het
Gm5724	C	A	6: 141,765,777	M69I	probably benign	Het
Golga3	T	A	5: 110,207,596	S939T	probably damaging	Het
Got2	A	G	8: 95,888,290	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,478,481	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,291,440	T39S	probably benign	Het
Grin2b	T	C	6: 135,733,182	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,303,193	N538T	probably damaging	Het
Helz2	A	G	2: 181,232,912	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,678,322	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,202,381	R854C	probably damaging	Het
Mipol1	A	T	12: 57,460,990		probably benign	Het
Mmp19	A	G	10: 128,790,950		probably benign	Het
Msc	T	G	1: 14,755,249	Y167S	probably benign	Het
Mycbp2	T	G	14: 103,200,118	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,205,557	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427	D791E	probably damaging	Het
Pcm1	A	G	8: 41,293,579	T1272A	probably benign	Het
Phgdh	A	G	3: 98,339,789	L15P	probably damaging	Het
Ptprk	A	T	10: 28,475,078		probably benign	Het
Ralgapa2	G	T	2: 146,361,400	D1091E	possibly damaging	Het
Rbbp8nl	C	A	2: 180,279,102	K496N	probably null	Het
Rbm26	T	C	14: 105,151,312		probably benign	Het
Rfx6	A	C	10: 51,726,675		probably benign	Het
Rras	G	A	7: 45,018,064	G17R	probably damaging	Het
Shisa6	G	A	11: 66,217,633	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,158,703	K316E	probably damaging	Het
Spata31d1a	A	G	13: 59,701,993	S774P	possibly damaging	Het
Spsb4	T	C	9: 96,995,787	Y161C	probably damaging	Het
Taf3	G	T	2: 9,952,833	N174K	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Trnt1	T	A	6: 106,773,369	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,599,521	C415*	probably null	Het
Ucn2	C	T	9: 108,986,409	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 108,996,095	T663I	probably damaging	Het
Wdfy1	A	T	1: 79,707,505	F337L	probably null	Het
Zfp287	A	T	11: 62,714,633	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,244,724		probably null	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
IGL02404:Cnbd1	APN	4	18895047	missense	possibly damaging	0.64
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
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
R7905:Cnbd1	UTSW	4	18907100	missense	possibly damaging	0.81
R7988:Cnbd1	UTSW	4	18907100	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CCCCAGTGATTAAATGGCCAAAG -3'
(R):5'- ATGGCAGTTTTGTCAGCTATCTTTC -3'

Sequencing Primer
(F):5'- TGGCCAAAGAGTTAAATGACATTC -3'
(R):5'- TCAGCTATCTTTCATATACTGAAGGG -3'

Posted On

2014-12-04