Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02206:Cnn1'

284495

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnn1

Ensembl Gene

ENSMUSG00000001349

Gene Name

calponin 1

Synonyms

CnnI, calponin h1, CN

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02206

Quality Score

Status

Chromosome

Chromosomal Location

22010501-22020517 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 22015674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001384] [ENSMUST00000213607] [ENSMUST00000214601] [ENSMUST00000216872]

AlphaFold

Q08091

Predicted Effect

probably benign
Transcript: ENSMUST00000001384

SMART Domains

Protein: ENSMUSP00000001384
Gene: ENSMUSG00000001349

Domain	Start	End	E-Value	Type
CH	30	127	2.69e-25	SMART
low complexity region	134	143	N/A	INTRINSIC
Pfam:Calponin	164	188	1.1e-18	PFAM
Pfam:Calponin	204	228	1.1e-17	PFAM
Pfam:Calponin	243	267	2.6e-15	PFAM
low complexity region	286	295	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213607

Predicted Effect

probably benign
Transcript: ENSMUST00000214601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216141

Predicted Effect

probably benign
Transcript: ENSMUST00000216872

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an allele lacking exons 5-7 exhibit accelerated cartilage formation and ossification. As adults mutant animals have increased width of the long bones and accelerated bone fracture repair. Mice homozygous for an allele lacking intron 1exhibit preweaning lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,151,573 (GRCm39)	K824*	probably null	Het
Acot12	A	G	13: 91,908,106 (GRCm39)	D96G	probably damaging	Het
Acvr2b	C	T	9: 119,257,064 (GRCm39)	Q98*	probably null	Het
Aldh8a1	T	C	10: 21,271,474 (GRCm39)	V400A	probably benign	Het
Aox1	C	A	1: 58,104,499 (GRCm39)	H559N	probably benign	Het
Arhgef18	T	A	8: 3,495,034 (GRCm39)	I431N	probably benign	Het
Atad5	A	G	11: 79,985,009 (GRCm39)	D32G	probably damaging	Het
Cgas	T	C	9: 78,350,362 (GRCm39)		probably null	Het
Cmtm8	T	C	9: 114,672,967 (GRCm39)	H10R	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Defb23	C	A	2: 152,306,455 (GRCm39)	E20*	probably null	Het
Dennd2a	A	T	6: 39,500,383 (GRCm39)	S61T	probably damaging	Het
Fam13a	A	T	6: 58,964,204 (GRCm39)	I76K	probably benign	Het
Fgd5	A	G	6: 91,964,239 (GRCm39)		probably benign	Het
Flt4	A	T	11: 49,521,217 (GRCm39)	R409W	probably damaging	Het
Gramd1b	T	C	9: 40,211,328 (GRCm39)	T652A	probably benign	Het
Grik1	C	T	16: 87,732,808 (GRCm39)	G703D	probably damaging	Het
Impg2	A	G	16: 56,079,960 (GRCm39)	E479G	possibly damaging	Het
Itpr1	A	G	6: 108,526,781 (GRCm39)	N2743S	probably damaging	Het
Klc1	A	G	12: 111,744,550 (GRCm39)		probably benign	Het
Ndufa9	G	A	6: 126,821,366 (GRCm39)	R75*	probably null	Het
Neurl4	A	G	11: 69,801,166 (GRCm39)	N1181S	probably damaging	Het
Or5an9	T	C	19: 12,187,824 (GRCm39)	I298T	probably damaging	Het
Phf1	A	G	17: 27,155,843 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,376,245 (GRCm39)	I969T	probably benign	Het
Pprc1	G	A	19: 46,060,190 (GRCm39)	R1538Q	probably damaging	Het
Rasd1	C	T	11: 59,854,778 (GRCm39)	G234D	possibly damaging	Het
Rnf152	T	C	1: 105,212,549 (GRCm39)	T3A	probably benign	Het
Rrh	C	T	3: 129,605,346 (GRCm39)	V115I	probably benign	Het
Rundc3a	G	T	11: 102,290,460 (GRCm39)	E217*	probably null	Het
Sae1	A	T	7: 16,064,581 (GRCm39)	V306E	possibly damaging	Het
Serpinb7	T	C	1: 107,363,102 (GRCm39)	S89P	possibly damaging	Het
Serpinb9h	A	G	13: 33,588,182 (GRCm39)	T256A	probably damaging	Het
Sgo2b	T	A	8: 64,394,118 (GRCm39)	T74S	possibly damaging	Het
Slc5a7	T	C	17: 54,604,022 (GRCm39)	D48G	probably damaging	Het
Stn1	T	C	19: 47,504,612 (GRCm39)	M177V	possibly damaging	Het
Tgm1	T	C	14: 55,942,392 (GRCm39)	E653G	possibly damaging	Het
Thsd4	T	C	9: 60,301,398 (GRCm39)	K299R	probably benign	Het
Ttc22	A	G	4: 106,493,186 (GRCm39)	T278A	probably damaging	Het
Ubl4b	G	T	3: 107,462,141 (GRCm39)	Q40K	possibly damaging	Het
Zfp677	A	G	17: 21,613,499 (GRCm39)	D31G	probably damaging	Het

Other mutations in Cnn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Cnn1	APN	9	22,010,693 (GRCm39)	missense	possibly damaging	0.95
spring_rolls	UTSW	9	22,019,165 (GRCm39)	missense	probably damaging	1.00
R1076:Cnn1	UTSW	9	22,019,165 (GRCm39)	missense	probably damaging	1.00
R1647:Cnn1	UTSW	9	22,019,150 (GRCm39)	missense	probably damaging	0.99
R1898:Cnn1	UTSW	9	22,012,560 (GRCm39)	critical splice donor site	probably null
R3522:Cnn1	UTSW	9	22,010,664 (GRCm39)	missense	probably benign	0.01
R5193:Cnn1	UTSW	9	22,019,132 (GRCm39)	missense	probably damaging	0.97
R5343:Cnn1	UTSW	9	22,016,706 (GRCm39)	missense	probably benign	0.41
R7172:Cnn1	UTSW	9	22,016,790 (GRCm39)	missense	probably damaging	1.00
R7205:Cnn1	UTSW	9	22,017,078 (GRCm39)	critical splice donor site	probably null
R7251:Cnn1	UTSW	9	22,019,513 (GRCm39)	missense	unknown
R8290:Cnn1	UTSW	9	22,012,447 (GRCm39)	missense	probably benign	0.35
R8725:Cnn1	UTSW	9	22,010,557 (GRCm39)	unclassified	probably benign
R8727:Cnn1	UTSW	9	22,010,557 (GRCm39)	unclassified	probably benign
R8966:Cnn1	UTSW	9	22,010,716 (GRCm39)	critical splice donor site	probably null
R9216:Cnn1	UTSW	9	22,019,474 (GRCm39)	missense	probably benign	0.00
R9332:Cnn1	UTSW	9	22,019,350 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16