Mutagenetix > Incidental Mutation

Incidental Mutation 'R6945:Col23a1'

540848

Institutional Source

Beutler Lab

Gene Symbol

Col23a1

Ensembl Gene

ENSMUSG00000063564

Gene Name

collagen, type XXIII, alpha 1

Synonyms

2810458L13Rik

MMRRC Submission

045059-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R6945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51180747-51474745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51452720 bp (GRCm39)

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]

AlphaFold

Q8K4G2

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
Abcc5	T	A	16: 20,218,759 (GRCm39)	T208S	probably benign	Het
Acaa2	A	G	18: 74,926,380 (GRCm39)	E112G	probably benign	Het
Adgrb1	A	G	15: 74,421,873 (GRCm39)	N881S	probably damaging	Het
Adgre1	A	G	17: 57,717,844 (GRCm39)	E314G	probably benign	Het
Adgre1	A	G	17: 57,727,399 (GRCm39)	E443G	probably benign	Het
Akp3	A	G	1: 87,053,353 (GRCm39)	Y102C	probably damaging	Het
Birc6	A	G	17: 74,886,526 (GRCm39)	N618S	probably benign	Het
Bpifc	A	G	10: 85,815,078 (GRCm39)	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,691,275 (GRCm39)		probably benign	Het
Cacnb4	T	C	2: 52,364,966 (GRCm39)	N99S	probably damaging	Het
Cd38	A	G	5: 44,065,348 (GRCm39)	Y283C	probably damaging	Het
Celf4	T	A	18: 25,629,293 (GRCm39)	Q411L	probably damaging	Het
Cemip	A	T	7: 83,647,755 (GRCm39)	H108Q	probably damaging	Het
Dnah11	T	C	12: 118,024,045 (GRCm39)	E1902G	probably damaging	Het
Dst	A	G	1: 34,229,571 (GRCm39)	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,823,184 (GRCm39)	I6306L	probably benign	Het
Furin	A	G	7: 80,040,838 (GRCm39)	S667P	possibly damaging	Het
Glmp	T	A	3: 88,233,139 (GRCm39)	S92R	probably benign	Het
Gm11563	C	G	11: 99,549,298 (GRCm39)	C152S	unknown	Het
Gm3486	A	G	14: 41,206,518 (GRCm39)	V185A	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Hyal1	C	A	9: 107,456,369 (GRCm39)	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785 (GRCm39)	C806R	probably benign	Het
L1td1	T	C	4: 98,621,933 (GRCm39)	V165A	probably benign	Het
Lama1	A	G	17: 68,120,861 (GRCm39)	T2666A		Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,146,239 (GRCm39)	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,464,152 (GRCm39)	F551S	possibly damaging	Het
Myo19	A	G	11: 84,788,386 (GRCm39)	T333A	probably benign	Het
Nrp2	A	T	1: 62,799,947 (GRCm39)	N387I	probably damaging	Het
Oas2	T	C	5: 120,874,204 (GRCm39)	D543G	probably benign	Het
Or2g25	A	G	17: 37,970,405 (GRCm39)	I273T	possibly damaging	Het
Or5al6	A	G	2: 85,976,428 (GRCm39)	S217P	probably damaging	Het
Pak5	A	G	2: 135,942,859 (GRCm39)	V427A	probably benign	Het
Pfas	G	A	11: 68,891,356 (GRCm39)	A247V	probably benign	Het
Pramel52-ps	C	T	5: 94,531,490 (GRCm39)	H125Y	possibly damaging	Het
Psat1	T	A	19: 15,894,545 (GRCm39)	T115S	probably benign	Het
Psme4	T	A	11: 30,787,437 (GRCm39)	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,509,752 (GRCm39)	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,822,976 (GRCm39)	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,331,256 (GRCm39)	E394D	probably damaging	Het
Seh1l	T	C	18: 67,922,460 (GRCm39)	V271A	probably benign	Het
Sf3b1	A	T	1: 55,036,315 (GRCm39)	N919K	probably benign	Het
Sftpd	A	G	14: 40,896,449 (GRCm39)	S245P	possibly damaging	Het
Slc22a15	T	C	3: 101,831,430 (GRCm39)	E2G	probably damaging	Het
Spta1	A	G	1: 174,036,891 (GRCm39)	D1134G	possibly damaging	Het
Syna	A	G	5: 134,587,815 (GRCm39)	V378A	probably damaging	Het
Tchp	A	G	5: 114,847,411 (GRCm39)	K77E	possibly damaging	Het
Tescl	T	C	7: 24,032,956 (GRCm39)	N123S	probably benign	Het
Trio	C	T	15: 27,824,176 (GRCm39)	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,727,665 (GRCm39)	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 11,886,832 (GRCm39)	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp1007	A	C	5: 109,824,711 (GRCm39)	N246K	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
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
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

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