Mutagenetix > Incidental Mutation

Incidental Mutation 'R6368:Cnfn'

512786

Institutional Source

Beutler Lab

Gene Symbol

Cnfn

Ensembl Gene

ENSMUSG00000063651

Gene Name

cornifelin

Synonyms

2210418J09Rik

MMRRC Submission

044518-MU

Accession Numbers

Essential gene?

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

Stock #

R6368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25067045-25069149 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 25067386 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 null
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 null
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

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	C	A	9: 55,897,416 (GRCm39)	E272D	possibly damaging	Het
Abi2	A	G	1: 60,492,810 (GRCm39)	T158A	possibly damaging	Het
Acacb	T	C	5: 114,354,884 (GRCm39)	S1221P	probably damaging	Het
Agbl1	A	G	7: 76,069,578 (GRCm39)	D370G	probably benign	Het
Apeh	A	G	9: 107,964,442 (GRCm39)	I487T	probably damaging	Het
Arid1b	C	A	17: 5,382,808 (GRCm39)	N1297K	possibly damaging	Het
Ascc3	G	A	10: 50,576,081 (GRCm39)	G779S	probably damaging	Het
Atp7b	A	C	8: 22,510,771 (GRCm39)		probably null	Het
Bsn	C	T	9: 107,988,513 (GRCm39)		probably benign	Het
Caps2	C	T	10: 112,030,873 (GRCm39)	Q268*	probably null	Het
Cr2	A	G	1: 194,850,780 (GRCm39)	S229P	probably damaging	Het
Cubn	T	C	2: 13,435,806 (GRCm39)	Y1050C	probably damaging	Het
Cubn	T	C	2: 13,480,934 (GRCm39)	E307G	probably damaging	Het
Cyb5r3	A	C	15: 83,044,325 (GRCm39)	Y182D	possibly damaging	Het
Dclre1a	A	T	19: 56,535,223 (GRCm39)	H120Q	probably benign	Het
Ddx6	T	C	9: 44,547,073 (GRCm39)	I457T	probably damaging	Het
E2f1	A	T	2: 154,406,396 (GRCm39)	H93Q	possibly damaging	Het
Fam186a	T	C	15: 99,841,198 (GRCm39)	K1682R	possibly damaging	Het
Farsb	A	G	1: 78,443,602 (GRCm39)		probably null	Het
Flii	A	T	11: 60,611,962 (GRCm39)	L347Q	probably damaging	Het
Galntl6	T	G	8: 59,364,475 (GRCm39)	T12P	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm21680	T	C	5: 26,174,034 (GRCm39)	N190S	probably damaging	Het
Ifit1bl2	T	C	19: 34,596,525 (GRCm39)	S364G	probably benign	Het
Kdm2a	A	G	19: 4,400,345 (GRCm39)	I234T	probably damaging	Het
Kdm5b	T	C	1: 134,526,945 (GRCm39)	C356R	probably damaging	Het
Kel	A	T	6: 41,665,785 (GRCm39)	C174*	probably null	Het
Krt16	T	A	11: 100,137,502 (GRCm39)	D401V	probably damaging	Het
Ltb4r1	A	C	14: 56,005,200 (GRCm39)	I168L	probably benign	Het
Luzp1	T	A	4: 136,269,091 (GRCm39)	M438K	probably benign	Het
Mtf1	C	T	4: 124,718,145 (GRCm39)	T281M	probably damaging	Het
Myo9a	T	A	9: 59,832,231 (GRCm39)	S2587T	probably benign	Het
Or13a21	G	T	7: 139,999,580 (GRCm39)	Y35*	probably null	Het
Or1ad1	T	A	11: 50,875,613 (GRCm39)	F28L	probably benign	Het
Or4f58	A	T	2: 111,851,896 (GRCm39)	I101N	probably damaging	Het
Or7e169	T	C	9: 19,757,705 (GRCm39)	D70G	probably damaging	Het
Pcm1	T	A	8: 41,746,581 (GRCm39)	F1221Y	probably benign	Het
Pnldc1	A	T	17: 13,124,751 (GRCm39)	N90K	probably damaging	Het
Prickle2	A	T	6: 92,397,218 (GRCm39)	L169Q	probably damaging	Het
Ralgps2	A	T	1: 156,712,144 (GRCm39)	L147I	probably damaging	Het
Rfx3	A	T	19: 27,746,009 (GRCm39)	L674Q	possibly damaging	Het
Rpl3	C	A	15: 79,966,745 (GRCm39)	L14F	probably damaging	Het
Rrbp1	C	T	2: 143,831,475 (GRCm39)	G231R	probably damaging	Het
Sema3d	C	T	5: 12,620,980 (GRCm39)	L529F	probably damaging	Het
Slain1	A	T	14: 103,894,391 (GRCm39)	T193S	probably benign	Het
Slc2a6	G	T	2: 26,914,599 (GRCm39)	Q256K	possibly damaging	Het
Slk	A	G	19: 47,608,622 (GRCm39)	E525G	possibly damaging	Het
Spsb4	G	T	9: 96,826,698 (GRCm39)	Q252K	probably benign	Het
Taf1b	A	G	12: 24,608,256 (GRCm39)	T552A	possibly damaging	Het
Tmprss15	T	C	16: 78,802,945 (GRCm39)		probably null	Het
Tph2	T	C	10: 115,015,231 (GRCm39)	H177R	probably damaging	Het
Ttll1	A	G	15: 83,373,818 (GRCm39)	S332P	probably damaging	Het
Twf2	T	G	9: 106,090,032 (GRCm39)	N128K	probably benign	Het
Vegfc	T	A	8: 54,634,265 (GRCm39)	C315S	probably damaging	Het
Vmn2r111	T	A	17: 22,790,889 (GRCm39)	K136N	probably benign	Het
Wnk2	T	C	13: 49,214,814 (GRCm39)	E496G	probably damaging	Het
Zfp148	C	A	16: 33,317,568 (GRCm39)	Q705K	probably damaging	Het
Zw10	C	T	9: 48,984,535 (GRCm39)	A539V	probably damaging	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
R3793:Cnfn	UTSW	7	25,067,805 (GRCm39)	missense	probably benign	0.26
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'- TCGGATTTTCAGTTCCCGCG -3'
(R):5'- TATAACTGTTCTCCTGAAGCCCG -3'

Sequencing Primer
(F):5'- CATCTGACAGAGGGCGCAG -3'
(R):5'- TCCTCGGGGGCAAACACAG -3'

Posted On

2018-04-27