Mutagenetix > Incidental Mutations

Incidental Mutation 'R6945:Col23a1'

540848

Institutional Source

Beutler Lab

Gene Symbol

Col23a1

Ensembl Gene

ENSMUSG00000063564

Gene Name

collagen, type XXIII, alpha 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51289920-51583918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51561893 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 225 (E225G)

Ref Sequence

ENSEMBL: ENSMUSP00000099826 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000102765
AA Change: E225G

SMART Domains

Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564
AA Change: E225G

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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,676,845	N246K	probably benign	Het
AA792892	C	T	5: 94,383,631	H125Y	possibly damaging	Het
Abcc5	T	A	16: 20,400,009	T208S	probably benign	Het
Acaa2	A	G	18: 74,793,309	E112G	probably benign	Het
Adgrb1	A	G	15: 74,550,024	N881S	probably damaging	Het
Adgre1	A	G	17: 57,410,844	E314G	probably benign	Het
Adgre1	A	G	17: 57,420,399	E443G	probably benign	Het
Akp3	A	G	1: 87,125,631	Y102C	probably damaging	Het
Birc6	A	G	17: 74,579,531	N618S	probably benign	Het
Bpifc	A	G	10: 85,979,214	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,969,318		probably benign	Het
Cacnb4	T	C	2: 52,474,954	N99S	probably damaging	Het
Cd38	A	G	5: 43,908,006	Y283C	probably damaging	Het
Celf4	T	A	18: 25,496,236	Q411L	probably damaging	Het
Cemip	A	T	7: 83,998,547	H108Q	probably damaging	Het
Dnah11	T	C	12: 118,060,310	E1902G	probably damaging	Het
Dst	A	G	1: 34,190,490	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,992,840	I6306L	probably benign	Het
Furin	A	G	7: 80,391,090	S667P	possibly damaging	Het
Glmp	T	A	3: 88,325,832	S92R	probably benign	Het
Gm11563	C	G	11: 99,658,472	C152S	unknown	Het
Gm3486	A	G	14: 41,484,561	V185A	probably benign	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Hyal1	C	A	9: 107,579,170	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785	C806R	probably benign	Het
L1td1	T	C	4: 98,733,696	V165A	probably benign	Het
Lama1	A	G	17: 67,813,866	T2666A		Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,256,227	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,622,232	F551S	possibly damaging	Het
Myo19	A	G	11: 84,897,560	T333A	probably benign	Het
Nrp2	A	T	1: 62,760,788	N387I	probably damaging	Het
Oas2	T	C	5: 120,736,139	D543G	probably benign	Het
Olfr1040	A	G	2: 86,146,084	S217P	probably damaging	Het
Olfr117	A	G	17: 37,659,514	I273T	possibly damaging	Het
Pak7	A	G	2: 136,100,939	V427A	probably benign	Het
Pfas	G	A	11: 69,000,530	A247V	probably benign	Het
Psat1	T	A	19: 15,917,181	T115S	probably benign	Het
Psme4	T	A	11: 30,837,437	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,682,182	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,776,191	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,261,032	E394D	probably damaging	Het
Seh1l	T	C	18: 67,789,390	V271A	probably benign	Het
Sf3b1	A	T	1: 54,997,156	N919K	probably benign	Het
Sftpd	A	G	14: 41,174,492	S245P	possibly damaging	Het
Slc22a15	T	C	3: 101,924,114	E2G	probably damaging	Het
Spta1	A	G	1: 174,209,325	D1134G	possibly damaging	Het
Syna	A	G	5: 134,558,961	V378A	probably damaging	Het
Tchp	A	G	5: 114,709,350	K77E	possibly damaging	Het
Tescl	T	C	7: 24,333,531	N123S	probably benign	Het
Trio	C	T	15: 27,824,090	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,790,855	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 12,152,905	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het

Other mutations in Col23a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02797:Col23a1	APN	11	51561916	critical splice donor site	probably null
IGL02997:Col23a1	APN	11	51577152	missense	probably damaging	1.00
IGL03237:Col23a1	APN	11	51567919	missense	possibly damaging	0.77
IGL03493:Col23a1	APN	11	51564805	critical splice donor site	probably null
R0755:Col23a1	UTSW	11	51576879	missense	probably damaging	1.00
R1523:Col23a1	UTSW	11	51561916	critical splice donor site	probably null
R1721:Col23a1	UTSW	11	51527889	missense	unknown
R1939:Col23a1	UTSW	11	51551989	missense	unknown
R2032:Col23a1	UTSW	11	51560008	missense	unknown
R2139:Col23a1	UTSW	11	51574034	missense	probably benign	0.03
R4829:Col23a1	UTSW	11	51557586	missense	unknown
R5536:Col23a1	UTSW	11	51567949	missense	probably damaging	1.00
R6253:Col23a1	UTSW	11	51574168	missense	probably damaging	1.00
R6520:Col23a1	UTSW	11	51549725	splice site	probably null
R7145:Col23a1	UTSW	11	51565223	critical splice donor site	probably null
R7863:Col23a1	UTSW	11	51572770	missense	probably damaging	1.00
R8103:Col23a1	UTSW	11	51570187	splice site	probably null
R8347:Col23a1	UTSW	11	51571256	missense	probably damaging	1.00
R8681:Col23a1	UTSW	11	51567929	missense	possibly damaging	0.88
Z1176:Col23a1	UTSW	11	51549708	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGACTGATTCCCCATGCAC -3'
(R):5'- CTCTGAAGGGAACATGGACATG -3'

Sequencing Primer
(F):5'- CCCATGCACTCGTGTGTGTG -3'
(R):5'- AACATGGACATGAGGAAGGG -3'

Posted On

2018-11-28