Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03396:Cnfn'

421280

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnfn

Ensembl Gene

ENSMUSG00000063651

Gene Name

cornifelin

Synonyms

2210418J09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL03396

Quality Score

Status

Chromosome

Chromosomal Location

25067045-25069149 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 25067783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076276] [ENSMUST00000128119] [ENSMUST00000167591]

AlphaFold

Q6PCW6

Predicted Effect

probably benign
Transcript: ENSMUST00000076276

SMART Domains

Protein: ENSMUSP00000075625
Gene: ENSMUSG00000063651

Domain	Start	End	E-Value	Type
Pfam:PLAC8	23	107	2.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128119

SMART Domains

Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CUB	33	140	1.24e-15	SMART
EGF	141	170	4.26e0	SMART
EGF	173	203	2.43e1	SMART
Pfam:Kelch_4	227	277	1.3e-11	PFAM
Pfam:Kelch_3	240	287	1.6e-7	PFAM
low complexity region	320	341	N/A	INTRINSIC
low complexity region	517	531	N/A	INTRINSIC
low complexity region	728	738	N/A	INTRINSIC
PSI	847	899	1.37e0	SMART
low complexity region	932	938	N/A	INTRINSIC
PSI	949	991	2.11e-2	SMART
PSI	1005	1073	7.82e-1	SMART
EGF_CA	1074	1115	2.62e-9	SMART
EGF	1117	1160	5.4e-2	SMART
EGF_like	1163	1208	4e-1	SMART
EGF_Lam	1211	1259	1.03e-7	SMART
Blast:CUB	1263	1401	1e-30	BLAST
EGF_like	1406	1445	3.29e1	SMART
Pfam:Kelch_4	1509	1564	6.5e-12	PFAM
Pfam:Kelch_3	1520	1574	1.2e-10	PFAM
PSI	1868	1923	2.75e-1	SMART
PSI	2004	2062	1.6e0	SMART
PSI	2064	2121	1.68e-5	SMART
EGF	2125	2164	1.08e-1	SMART
EGF	2166	2194	4.26e0	SMART
EGF	2204	2244	2.2e1	SMART
EGF_like	2248	2321	6.37e-1	SMART
low complexity region	2493	2504	N/A	INTRINSIC
low complexity region	2530	2541	N/A	INTRINSIC
transmembrane domain	2592	2614	N/A	INTRINSIC
low complexity region	2649	2668	N/A	INTRINSIC
low complexity region	2674	2702	N/A	INTRINSIC
low complexity region	2759	2774	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153077

Predicted Effect

probably benign
Transcript: ENSMUST00000167591

SMART Domains

Protein: ENSMUSP00000130957
Gene: ENSMUSG00000063651

Domain	Start	End	E-Value	Type
Pfam:PLAC8	36	119	1.9e-21	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	G	A	11: 69,902,239 (GRCm39)	R457*	probably null	Het
Arl5b	C	A	2: 15,079,915 (GRCm39)	T153K	probably damaging	Het
Arsb	A	T	13: 94,075,825 (GRCm39)	Y436F	probably benign	Het
Azgp1	C	T	5: 137,983,445 (GRCm39)	P40L	possibly damaging	Het
B020004C17Rik	A	G	14: 57,253,993 (GRCm39)	T39A	possibly damaging	Het
Cacna2d3	G	A	14: 29,442,834 (GRCm39)	Q67*	probably null	Het
Cdcp2	C	A	4: 106,964,369 (GRCm39)	Y406*	probably null	Het
Cep89	T	A	7: 35,128,603 (GRCm39)	D585E	probably benign	Het
Cfap65	A	G	1: 74,943,801 (GRCm39)	F1570S	probably damaging	Het
Fgd6	G	A	10: 93,880,318 (GRCm39)	V391I	probably benign	Het
Fra10ac1	C	T	19: 38,189,994 (GRCm39)		probably null	Het
Gjd3	T	C	11: 102,691,353 (GRCm39)	K217E	probably benign	Het
Il20rb	T	C	9: 100,341,251 (GRCm39)	E285G	probably damaging	Het
Ints2	T	C	11: 86,103,888 (GRCm39)	T1086A	probably damaging	Het
Itih4	A	T	14: 30,609,906 (GRCm39)	I79F	probably damaging	Het
Jmjd6	A	T	11: 116,732,077 (GRCm39)	L208H	probably damaging	Het
Lilrb4b	A	G	10: 51,357,253 (GRCm39)	I30V	possibly damaging	Het
Limch1	A	G	5: 67,111,016 (GRCm39)	N81S	probably damaging	Het
Mettl21e	A	T	1: 44,245,759 (GRCm39)	N162K	possibly damaging	Het
Ninl	A	G	2: 150,808,132 (GRCm39)	S299P	possibly damaging	Het
Obscn	A	G	11: 58,964,404 (GRCm39)	L3046P	probably benign	Het
Or1j14	C	A	2: 36,417,692 (GRCm39)	S89R	probably benign	Het
Or5b98	T	A	19: 12,931,184 (GRCm39)	V77E	probably damaging	Het
Or6c68	A	G	10: 129,157,916 (GRCm39)	I141M	probably benign	Het
Pnpla8	G	A	12: 44,330,309 (GRCm39)	R287H	probably benign	Het
Pot1a	A	C	6: 25,745,913 (GRCm39)	I596R	possibly damaging	Het
Prkaa1	A	G	15: 5,206,131 (GRCm39)	D329G	probably damaging	Het
Ptprr	T	G	10: 116,024,235 (GRCm39)	V182G	probably damaging	Het
Rrp1b	T	A	17: 32,276,237 (GRCm39)		probably benign	Het
Sec24a	A	G	11: 51,599,794 (GRCm39)	V837A	probably benign	Het
Slc17a6	A	G	7: 51,318,840 (GRCm39)	Y494C	probably damaging	Het
Slc38a10	A	T	11: 120,019,301 (GRCm39)	I360N	probably damaging	Het
Snrpb2	T	C	2: 142,913,377 (GRCm39)	F194L	possibly damaging	Het
Tcam1	A	G	11: 106,176,212 (GRCm39)	I313V	probably benign	Het
Trpv1	A	G	11: 73,143,882 (GRCm39)	N238S	probably benign	Het
Usp20	T	C	2: 30,901,729 (GRCm39)	V498A	probably benign	Het
Vmn2r23	T	C	6: 123,706,585 (GRCm39)	S472P	probably damaging	Het
Vmn2r98	A	T	17: 19,290,107 (GRCm39)	T548S	possibly damaging	Het
Zfp429	A	T	13: 67,544,159 (GRCm39)		probably benign	Het

Other mutations in Cnfn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Cnfn	APN	7	25,067,385 (GRCm39)	splice site	probably benign
R0586:Cnfn	UTSW	7	25,067,256 (GRCm39)	missense	probably benign	0.05
R3793:Cnfn	UTSW	7	25,067,805 (GRCm39)	missense	probably benign	0.26
R6368:Cnfn	UTSW	7	25,067,386 (GRCm39)	splice site	probably null
R8859:Cnfn	UTSW	7	25,067,869 (GRCm39)	missense	probably benign	0.00
R9291:Cnfn	UTSW	7	25,067,476 (GRCm39)	missense	possibly damaging	0.91
R9696:Cnfn	UTSW	7	25,067,515 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02