Mutagenetix > Incidental Mutation

Incidental Mutation 'R3793:Cnfn'

272648

Institutional Source

Beutler Lab

Gene Symbol

Cnfn

Ensembl Gene

ENSMUSG00000063651

Gene Name

cornifelin

Synonyms

2210418J09Rik

MMRRC Submission

040755-MU

Accession Numbers

Essential gene?

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

Stock #

R3793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25067045-25069149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25067805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 45 (N45S)

Ref Sequence

ENSEMBL: ENSMUSP00000130957 (fasta)

Gene Model

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

AlphaFold

Q6PCW6

Predicted Effect

probably benign
Transcript: ENSMUST00000076276
AA Change: N32S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075625
Gene: ENSMUSG00000063651
AA Change: N32S

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
AA Change: N45S

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130957
Gene: ENSMUSG00000063651
AA Change: N45S

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

Meta Mutation Damage Score

0.0596

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,259,889 (GRCm39)	T35A	probably benign	Het
Arhgap32	T	A	9: 32,166,669 (GRCm39)	S435R	probably damaging	Het
Asic1	A	T	15: 99,569,906 (GRCm39)	K76*	probably null	Het
B9d1	A	G	11: 61,398,448 (GRCm39)		probably benign	Het
Casd1	T	C	6: 4,619,876 (GRCm39)	V207A	possibly damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Col14a1	G	T	15: 55,226,909 (GRCm39)	D220Y	unknown	Het
Csn1s1	T	A	5: 87,828,702 (GRCm39)	Y274*	probably null	Het
Cyp2c69	T	C	19: 39,869,600 (GRCm39)	T140A	probably benign	Het
Dlg2	A	T	7: 91,459,743 (GRCm39)		probably benign	Het
Esp16	T	C	17: 39,848,739 (GRCm39)	I11T	possibly damaging	Het
Esyt3	A	T	9: 99,197,334 (GRCm39)	F832Y	possibly damaging	Het
Ift172	C	T	5: 31,414,925 (GRCm39)	D1366N	possibly damaging	Het
Itga4	A	G	2: 79,109,472 (GRCm39)	T224A	probably benign	Het
Itprid1	A	T	6: 55,952,588 (GRCm39)	M844L	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt71	C	T	15: 101,651,345 (GRCm39)	S46N	probably damaging	Het
Lhx1	A	G	11: 84,412,726 (GRCm39)	S65P	probably benign	Het
Lingo4	A	G	3: 94,309,685 (GRCm39)	S208G	probably benign	Het
Lrrc2	T	A	9: 110,795,585 (GRCm39)	C123*	probably null	Het
Nfrkb	A	T	9: 31,321,228 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,004,357 (GRCm39)	C709*	probably null	Het
Nlrp14	A	T	7: 106,781,481 (GRCm39)	Q226L	probably benign	Het
Ocln	T	C	13: 100,635,402 (GRCm39)	R496G	possibly damaging	Het
Or2b2b	T	C	13: 21,859,153 (GRCm39)		probably null	Het
Or7e173	T	A	9: 19,938,359 (GRCm39)	I292F	probably damaging	Het
Osgepl1	T	C	1: 53,359,406 (GRCm39)	I305T	probably damaging	Het
Ovgp1	A	G	3: 105,887,487 (GRCm39)	N266S	probably benign	Het
Per1	A	G	11: 69,000,127 (GRCm39)	E1273G	probably benign	Het
Plch1	A	G	3: 63,605,252 (GRCm39)	Y1542H	probably damaging	Het
Pold1	A	G	7: 44,190,994 (GRCm39)	F252L	probably damaging	Het
Ptk2b	A	T	14: 66,407,700 (GRCm39)	D607E	probably damaging	Het
Sdf4	T	A	4: 156,086,916 (GRCm39)		probably null	Het
Sirt4	T	C	5: 115,618,351 (GRCm39)	D241G	probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slco1b2	A	G	6: 141,622,033 (GRCm39)	Y531C	probably damaging	Het
Tmem200a	A	T	10: 25,870,087 (GRCm39)	S61T	probably damaging	Het
Trp53bp1	T	C	2: 121,030,810 (GRCm39)	I1784V	probably damaging	Het
Uba2	A	C	7: 33,845,722 (GRCm39)	V467G	probably damaging	Het
Ubr3	T	C	2: 69,747,525 (GRCm39)	S263P	possibly damaging	Het
Ugt2b35	A	G	5: 87,149,465 (GRCm39)	T239A	probably benign	Het
Wac	T	C	18: 7,920,190 (GRCm39)	V348A	possibly damaging	Het
Wdr3	A	T	3: 100,059,281 (GRCm39)	M346K	probably benign	Het
Zfp607a	A	T	7: 27,578,331 (GRCm39)	H467L	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
IGL03396:Cnfn	APN	7	25,067,783 (GRCm39)	splice site	probably benign
R0586:Cnfn	UTSW	7	25,067,256 (GRCm39)	missense	probably benign	0.05
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

Predicted Primers

PCR Primer
(F):5'- CGGGCTTCAGGAGAACAGTTATAG -3'
(R):5'- ACAGTGATGTTTCCTCTAGTGG -3'

Sequencing Primer
(F):5'- TTATAGAGAAGGAAACCAAGACCC -3'
(R):5'- TTTCCTCTAGTGGGCGGCC -3'

Posted On

2015-03-25