Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01101:Cnbd1'

50897

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01101

Quality Score

Status

Chromosome

Chromosomal Location

18860454-19122526 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18907098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 159 (I159F)

Ref Sequence

ENSEMBL: ENSMUSP00000121576 (fasta)

Gene Model

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

AlphaFold

B1AWM0

Predicted Effect

probably benign
Transcript: ENSMUST00000137780
AA Change: I159F

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121576
Gene: ENSMUSG00000073991
AA Change: I159F

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,241,923 (GRCm39)	D695V	probably damaging	Het
Ahnak	T	C	19: 8,990,251 (GRCm39)		probably benign	Het
Akap4	T	A	X: 6,942,423 (GRCm39)	M242K	probably benign	Het
Cd207	T	C	6: 83,652,839 (GRCm39)	D97G	probably benign	Het
Cdc20	A	G	4: 118,292,749 (GRCm39)	V333A	possibly damaging	Het
Cdhr2	A	G	13: 54,865,948 (GRCm39)		probably benign	Het
Cfhr1	T	A	1: 139,481,322 (GRCm39)	Y186F	probably benign	Het
Cyp2j11	A	C	4: 96,227,332 (GRCm39)	M228R	probably benign	Het
Dach1	C	A	14: 98,077,640 (GRCm39)	S581I	possibly damaging	Het
Dbnl	A	G	11: 5,743,722 (GRCm39)	D71G	possibly damaging	Het
F8	T	A	X: 74,330,993 (GRCm39)	T966S	possibly damaging	Het
Filip1	T	A	9: 79,805,528 (GRCm39)	L75F	probably benign	Het
Foxi2	A	G	7: 135,013,736 (GRCm39)	Y322C	probably benign	Het
Ftsj3	A	G	11: 106,146,458 (GRCm39)	V7A	probably benign	Het
Gm8362	A	T	14: 18,145,196 (GRCm39)	S204T	probably benign	Het
Ibtk	C	A	9: 85,614,675 (GRCm39)		probably benign	Het
Marf1	C	T	16: 13,964,600 (GRCm39)	V267I	possibly damaging	Het
Mmp27	T	A	9: 7,573,416 (GRCm39)	D169E	probably damaging	Het
Or10ag53	C	A	2: 87,082,806 (GRCm39)	T175K	probably damaging	Het
Or4a74	C	T	2: 89,440,191 (GRCm39)	C85Y	probably benign	Het
Or4k1	A	T	14: 50,377,511 (GRCm39)	M195K	probably benign	Het
P4ha2	G	T	11: 54,010,131 (GRCm39)	C296F	probably damaging	Het
Scart2	A	T	7: 139,876,017 (GRCm39)	Q543L	probably benign	Het
Slc38a5	T	C	X: 8,137,750 (GRCm39)		probably benign	Het
Sorbs2	G	T	8: 46,198,460 (GRCm39)	R36L	possibly damaging	Het
Tmem207	A	C	16: 26,336,627 (GRCm39)	Y42*	probably null	Het
Vmn2r115	G	A	17: 23,564,971 (GRCm39)	R286K	probably benign	Het

Other mutations in Cnbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Cnbd1	APN	4	18,906,988 (GRCm39)	splice site	probably benign
IGL01365:Cnbd1	APN	4	18,860,576 (GRCm39)	missense	probably damaging	1.00
IGL01646:Cnbd1	APN	4	18,895,141 (GRCm39)	nonsense	probably null
IGL02106:Cnbd1	APN	4	18,894,993 (GRCm39)	missense	possibly damaging	0.55
IGL02218:Cnbd1	APN	4	18,887,739 (GRCm39)	missense	probably benign	0.00
IGL02335:Cnbd1	APN	4	19,055,095 (GRCm39)	missense	possibly damaging	0.87
IGL02380:Cnbd1	APN	4	18,887,749 (GRCm39)	critical splice acceptor site	probably null
IGL02380:Cnbd1	APN	4	18,887,748 (GRCm39)	critical splice acceptor site	probably null
IGL02404:Cnbd1	APN	4	18,895,047 (GRCm39)	missense	possibly damaging	0.64
IGL03293:Cnbd1	APN	4	18,860,565 (GRCm39)	missense	possibly damaging	0.65
IGL03301:Cnbd1	APN	4	19,055,039 (GRCm39)	missense	probably benign	0.00
IGL03342:Cnbd1	APN	4	19,098,264 (GRCm39)	splice site	probably benign
IGL03392:Cnbd1	APN	4	18,862,111 (GRCm39)	missense	probably damaging	1.00
R0062:Cnbd1	UTSW	4	18,860,504 (GRCm39)	missense	possibly damaging	0.65
R0062:Cnbd1	UTSW	4	18,860,504 (GRCm39)	missense	possibly damaging	0.65
R0195:Cnbd1	UTSW	4	18,906,988 (GRCm39)	splice site	probably benign
R0462:Cnbd1	UTSW	4	18,895,044 (GRCm39)	missense	probably benign	0.01
R0909:Cnbd1	UTSW	4	19,122,444 (GRCm39)	missense	probably benign
R1435:Cnbd1	UTSW	4	18,907,026 (GRCm39)	missense	probably benign	0.00
R1995:Cnbd1	UTSW	4	19,055,112 (GRCm39)	missense	possibly damaging	0.55
R2495:Cnbd1	UTSW	4	18,860,579 (GRCm39)	missense	probably damaging	1.00
R3974:Cnbd1	UTSW	4	18,887,693 (GRCm39)	missense	probably benign	0.00
R4083:Cnbd1	UTSW	4	18,886,042 (GRCm39)	missense	possibly damaging	0.88
R4494:Cnbd1	UTSW	4	19,098,150 (GRCm39)	missense	probably benign	0.34
R4558:Cnbd1	UTSW	4	19,055,095 (GRCm39)	missense	possibly damaging	0.87
R4833:Cnbd1	UTSW	4	18,862,120 (GRCm39)	missense	probably damaging	0.97
R5326:Cnbd1	UTSW	4	18,860,517 (GRCm39)	missense	possibly damaging	0.67
R5542:Cnbd1	UTSW	4	18,860,517 (GRCm39)	missense	possibly damaging	0.67
R5930:Cnbd1	UTSW	4	18,886,119 (GRCm39)	missense	probably benign	0.14
R5958:Cnbd1	UTSW	4	18,862,056 (GRCm39)	missense	probably benign	0.31
R6064:Cnbd1	UTSW	4	18,895,084 (GRCm39)	missense	probably benign	0.14
R6250:Cnbd1	UTSW	4	19,098,255 (GRCm39)	missense	probably benign	0.00
R6348:Cnbd1	UTSW	4	18,860,462 (GRCm39)	missense	probably damaging	0.99
R7027:Cnbd1	UTSW	4	18,862,063 (GRCm39)	missense	probably benign	0.01
R7905:Cnbd1	UTSW	4	18,907,100 (GRCm39)	missense	possibly damaging	0.81
R8434:Cnbd1	UTSW	4	19,055,045 (GRCm39)	missense	probably benign	0.00
R9066:Cnbd1	UTSW	4	19,098,181 (GRCm39)	missense	probably benign	0.35
R9098:Cnbd1	UTSW	4	18,886,061 (GRCm39)	nonsense	probably null
R9225:Cnbd1	UTSW	4	18,907,010 (GRCm39)	missense	probably benign	0.08
R9248:Cnbd1	UTSW	4	18,862,113 (GRCm39)	missense	possibly damaging	0.48
R9307:Cnbd1	UTSW	4	18,887,647 (GRCm39)	missense	probably damaging	1.00
R9419:Cnbd1	UTSW	4	19,098,156 (GRCm39)	missense	probably benign	0.11
R9648:Cnbd1	UTSW	4	19,098,142 (GRCm39)	critical splice donor site	probably null

Posted On

2013-06-21