Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03237:Col23a1'

414100

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 #

IGL03237

Quality Score

Status

Chromosome

Chromosomal Location

51180747-51474745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 51458746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 294 (E294D)

Ref Sequence

ENSEMBL: ENSMUSP00000099826 (fasta)

Gene Model

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

AlphaFold

Q8K4G2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102765
AA Change: E294D

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564
AA Change: E294D

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,929,388 (GRCm39)	Y405C	probably benign	Het
Adam19	A	G	11: 46,028,383 (GRCm39)	K672R	probably benign	Het
Adamts7	C	A	9: 90,070,717 (GRCm39)	P613T	probably damaging	Het
Adgrl1	G	T	8: 84,656,312 (GRCm39)		probably null	Het
Adrb1	A	T	19: 56,711,800 (GRCm39)	N333Y	probably damaging	Het
Aqp7	C	T	4: 41,034,884 (GRCm39)	V190M	possibly damaging	Het
Atg101	T	C	15: 101,185,054 (GRCm39)	F59L	probably damaging	Het
Capn12	T	C	7: 28,590,366 (GRCm39)	S638P	probably damaging	Het
Ccm2l	T	C	2: 152,907,922 (GRCm39)		probably benign	Het
Cdc14a	A	T	3: 116,198,275 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 110,066,037 (GRCm39)	K770N	possibly damaging	Het
Clxn	A	G	16: 14,738,652 (GRCm39)	D161G	probably damaging	Het
Cped1	A	T	6: 22,233,595 (GRCm39)	Y679F	probably damaging	Het
Ctu2	A	G	8: 123,205,792 (GRCm39)	E180G	probably benign	Het
Cyp11b2	C	T	15: 74,722,914 (GRCm39)	V495I	probably benign	Het
Ecpas	A	T	4: 58,810,668 (GRCm39)	M1563K	probably benign	Het
Gabrg3	A	T	7: 56,632,460 (GRCm39)		probably null	Het
Hsd17b11	A	G	5: 104,151,036 (GRCm39)	*233Q	probably null	Het
Klhl41	T	C	2: 69,500,902 (GRCm39)	V121A	possibly damaging	Het
Kptn	A	T	7: 15,854,050 (GRCm39)	D56V	probably damaging	Het
L3mbtl4	T	A	17: 69,084,856 (GRCm39)	I589N	probably damaging	Het
Lpl	A	T	8: 69,347,378 (GRCm39)	N177Y	possibly damaging	Het
Manba	G	A	3: 135,250,512 (GRCm39)	V380M	probably damaging	Het
Mecom	A	T	3: 30,010,648 (GRCm39)		probably benign	Het
Mertk	A	G	2: 128,632,192 (GRCm39)	E707G	probably damaging	Het
Myo5a	A	T	9: 75,037,276 (GRCm39)	I160F	probably damaging	Het
Myo7a	A	T	7: 97,751,800 (GRCm39)	I81N	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nipal1	C	T	5: 72,824,150 (GRCm39)	R76C	probably damaging	Het
Noc3l	C	T	19: 38,803,125 (GRCm39)		probably null	Het
Nt5e	A	G	9: 88,237,787 (GRCm39)	D239G	probably damaging	Het
Olr1	A	C	6: 129,479,117 (GRCm39)	W34G	probably damaging	Het
Plekhf1	A	T	7: 37,920,799 (GRCm39)	N256K	probably benign	Het
Psen2	T	C	1: 180,068,414 (GRCm39)	T80A	possibly damaging	Het
Psg27	A	G	7: 18,294,417 (GRCm39)	I330T	probably benign	Het
Ranbp2	T	C	10: 58,328,783 (GRCm39)	V2894A	probably damaging	Het
Sgcz	A	T	8: 38,030,332 (GRCm39)	D170E	probably benign	Het
Snrnp200	C	T	2: 127,075,233 (GRCm39)	A1573V	probably damaging	Het
Steap3	C	T	1: 120,171,520 (GRCm39)	G195D	probably damaging	Het
Tmem165	T	A	5: 76,347,356 (GRCm39)	Y5*	probably null	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Vmn2r67	A	T	7: 84,799,118 (GRCm39)	C530S	probably damaging	Het
Wdfy3	T	A	5: 101,992,465 (GRCm39)	D3389V	probably damaging	Het
Zfp128	A	C	7: 12,624,953 (GRCm39)	E440D	probably benign	Het

Other mutations in Col23a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02797:Col23a1	APN	11	51,452,743 (GRCm39)	critical splice donor site	probably null
IGL02997:Col23a1	APN	11	51,467,979 (GRCm39)	missense	probably damaging	1.00
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

2016-08-02