Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02797:Col23a1'

360021

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col23a1

Ensembl Gene

ENSMUSG00000063564

Gene Name

collagen, type XXIII, alpha 1

Synonyms

2810458L13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02797

Quality Score

Status

Chromosome

Chromosomal Location

51180747-51474745 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 51452743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102765]

AlphaFold

Q8K4G2

Predicted Effect

probably null
Transcript: ENSMUST00000102765

SMART Domains

Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564

Domain	Start	End	E-Value	Type
low complexity region	2	50	N/A	INTRINSIC
Pfam:Collagen	107	162	3.7e-10	PFAM
Pfam:Collagen	140	207	1.3e-9	PFAM
low complexity region	212	237	N/A	INTRINSIC
Pfam:Collagen	239	299	1.8e-11	PFAM
Pfam:Collagen	309	367	1.8e-10	PFAM
Pfam:Collagen	331	390	6.6e-11	PFAM
Pfam:Collagen	402	463	2.4e-11	PFAM
Pfam:Collagen	455	523	3.7e-11	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,187,214 (GRCm39)	M924T	probably benign	Het
Afg2a	A	G	3: 37,512,465 (GRCm39)		probably benign	Het
B3gat2	A	G	1: 23,854,360 (GRCm39)	Y218C	probably damaging	Het
Bcs1l	T	C	1: 74,629,620 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,568,995 (GRCm39)	I358N	probably damaging	Het
Cd276	T	C	9: 58,444,719 (GRCm39)	D84G	possibly damaging	Het
Chsy1	T	C	7: 65,821,412 (GRCm39)	F549S	probably damaging	Het
Clca3a2	T	C	3: 144,787,024 (GRCm39)	N549S	probably benign	Het
Cma1	A	G	14: 56,181,271 (GRCm39)	S32P	possibly damaging	Het
Ctps1	A	T	4: 120,420,021 (GRCm39)	I131K	probably benign	Het
Cyp2w1	T	C	5: 139,342,628 (GRCm39)	L441P	probably damaging	Het
Dnajc21	A	G	15: 10,461,441 (GRCm39)	Y170H	probably damaging	Het
Eif3a	A	T	19: 60,761,164 (GRCm39)	L648Q	probably damaging	Het
Eif3l	T	A	15: 78,959,477 (GRCm39)	D6E	probably benign	Het
Fam228a	A	T	12: 4,781,484 (GRCm39)	L125Q	probably damaging	Het
Foxa2	A	G	2: 147,886,045 (GRCm39)	C263R	possibly damaging	Het
Gm17455	A	G	10: 60,239,107 (GRCm39)	E124G	possibly damaging	Het
Gpc6	T	G	14: 117,163,394 (GRCm39)	L16R	probably damaging	Het
Hdac9	A	G	12: 34,443,273 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,845,679 (GRCm39)	N400S	probably benign	Het
Herc4	G	A	10: 63,152,586 (GRCm39)		probably null	Het
Il12b	A	G	11: 44,301,180 (GRCm39)		probably null	Het
Lama4	A	G	10: 38,932,920 (GRCm39)	R599G	probably null	Het
Lrp1b	T	A	2: 41,561,069 (GRCm39)	E286V		Het
Mink1	C	T	11: 70,501,176 (GRCm39)	P784S	probably damaging	Het
Musk	T	C	4: 58,366,921 (GRCm39)	F513S	probably benign	Het
Nfasc	T	A	1: 132,538,186 (GRCm39)	D474V	probably damaging	Het
Nhsl3	C	T	4: 129,117,104 (GRCm39)	R565H	probably damaging	Het
Nos2	T	G	11: 78,831,170 (GRCm39)	F420V	probably damaging	Het
Or52ab2	A	T	7: 102,970,058 (GRCm39)	I147L	probably benign	Het
Pcdhb14	A	G	18: 37,582,904 (GRCm39)	Y670C	probably damaging	Het
Polr1b	A	G	2: 128,944,899 (GRCm39)	E65G	probably damaging	Het
Ppp1r10	T	G	17: 36,238,904 (GRCm39)		probably null	Het
Prag1	C	T	8: 36,606,655 (GRCm39)	R799C	probably damaging	Het
Prb1c	T	A	6: 132,340,008 (GRCm39)		probably null	Het
Ptch1	T	C	13: 63,681,421 (GRCm39)	N485S	probably benign	Het
Rgsl1	T	C	1: 153,683,454 (GRCm39)	T19A	probably damaging	Het
Sgpl1	A	C	10: 60,937,507 (GRCm39)	S507A	probably benign	Het
Sgpp2	A	G	1: 78,393,819 (GRCm39)	D274G	probably benign	Het
Skap1	A	G	11: 96,603,843 (GRCm39)	D211G	possibly damaging	Het
Smc3	A	G	19: 53,627,189 (GRCm39)	T830A	probably benign	Het
Smpd2	G	A	10: 41,364,074 (GRCm39)	T215I	possibly damaging	Het
Sntg2	T	G	12: 30,276,891 (GRCm39)	Y387S	possibly damaging	Het
Sorl1	T	G	9: 41,948,355 (GRCm39)	D810A	probably damaging	Het
Spop	T	A	11: 95,372,909 (GRCm39)	I217N	probably damaging	Het
Stac2	T	C	11: 97,934,345 (GRCm39)	R120G	possibly damaging	Het
Stau1	A	T	2: 166,791,266 (GRCm39)	*496R	probably null	Het
Tmeff2	C	T	1: 50,967,206 (GRCm39)	R34C	probably damaging	Het
Treml2	C	T	17: 48,609,739 (GRCm39)	A57V	possibly damaging	Het
Vmn2r15	T	C	5: 109,445,250 (GRCm39)	D58G	probably benign	Het
Vmn2r7	T	C	3: 64,598,666 (GRCm39)	I721M	possibly damaging	Het
Vmn2r70	C	A	7: 85,208,295 (GRCm39)	M727I	probably benign	Het
Vwa8	T	A	14: 79,162,702 (GRCm39)	C161S	probably benign	Het

Other mutations in Col23a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02997:Col23a1	APN	11	51,467,979 (GRCm39)	missense	probably damaging	1.00
IGL03237:Col23a1	APN	11	51,458,746 (GRCm39)	missense	possibly damaging	0.77
IGL03493:Col23a1	APN	11	51,455,632 (GRCm39)	critical splice donor site	probably null
R0755:Col23a1	UTSW	11	51,467,706 (GRCm39)	missense	probably damaging	1.00
R1523:Col23a1	UTSW	11	51,452,743 (GRCm39)	critical splice donor site	probably null
R1721:Col23a1	UTSW	11	51,418,716 (GRCm39)	missense	unknown
R1939:Col23a1	UTSW	11	51,442,816 (GRCm39)	missense	unknown
R2032:Col23a1	UTSW	11	51,450,835 (GRCm39)	missense	unknown
R2139:Col23a1	UTSW	11	51,464,861 (GRCm39)	missense	probably benign	0.03
R4829:Col23a1	UTSW	11	51,448,413 (GRCm39)	missense	unknown
R5536:Col23a1	UTSW	11	51,458,776 (GRCm39)	missense	probably damaging	1.00
R6253:Col23a1	UTSW	11	51,464,995 (GRCm39)	missense	probably damaging	1.00
R6520:Col23a1	UTSW	11	51,440,552 (GRCm39)	splice site	probably null
R6945:Col23a1	UTSW	11	51,452,720 (GRCm39)	missense	unknown
R7145:Col23a1	UTSW	11	51,456,050 (GRCm39)	critical splice donor site	probably null
R7863:Col23a1	UTSW	11	51,463,597 (GRCm39)	missense	probably damaging	1.00
R8103:Col23a1	UTSW	11	51,461,014 (GRCm39)	splice site	probably null
R8347:Col23a1	UTSW	11	51,462,083 (GRCm39)	missense	probably damaging	1.00
R8681:Col23a1	UTSW	11	51,458,756 (GRCm39)	missense	possibly damaging	0.88
R9480:Col23a1	UTSW	11	51,207,774 (GRCm39)	missense	unknown
Z1176:Col23a1	UTSW	11	51,440,535 (GRCm39)	missense	unknown

Posted On

2015-12-18