Mutagenetix > Incidental Mutation

Incidental Mutation 'R8347:Col23a1'

645316

Institutional Source

Beutler Lab

Gene Symbol

Col23a1

Ensembl Gene

ENSMUSG00000063564

Gene Name

collagen, type XXIII, alpha 1

Synonyms

MMRRC Submission

067867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8347 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51289920-51583918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51571256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 373 (G373D)

Ref Sequence

ENSEMBL: ENSMUSP00000099826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102765] [ENSMUST00000151098]

AlphaFold

Q8K4G2

Predicted Effect

probably damaging
Transcript: ENSMUST00000102765
AA Change: G373D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564
AA Change: G373D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151098

SMART Domains

Protein: ENSMUSP00000119825
Gene: ENSMUSG00000063564

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	54	2.9e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	A	5: 138,562,891 (GRCm38)	I170L	probably benign	Het
Adamts15	C	T	9: 30,902,550 (GRCm38)	R773Q	probably benign	Het
Ankib1	A	G	5: 3,747,065 (GRCm38)	L249P	probably damaging	Het
Cabin1	A	G	10: 75,742,367 (GRCm38)	F499L	probably damaging	Het
Cdhr17	G	A	5: 16,801,574 (GRCm38)	M96I	probably benign	Het
Clec12b	C	T	6: 129,380,487 (GRCm38)		probably null	Het
Cse1l	C	T	2: 166,927,585 (GRCm38)	T304I	possibly damaging	Het
D6Wsu163e	T	A	6: 126,955,288 (GRCm38)	L330*	probably null	Het
Dbi	A	C	1: 120,120,820 (GRCm38)	L32R	possibly damaging	Het
Dennd2c	A	G	3: 103,157,709 (GRCm38)	Y716C	probably damaging	Het
Dnah5	G	A	15: 28,236,666 (GRCm38)	M379I	possibly damaging	Het
Dpys	T	C	15: 39,857,313 (GRCm38)	D17G	probably benign	Het
Dync2h1	C	T	9: 7,116,578 (GRCm38)	S2319N	possibly damaging	Het
Dyrk2	T	C	10: 118,859,983 (GRCm38)	K457E	probably damaging	Het
Efs	A	G	14: 54,919,784 (GRCm38)	C357R	probably benign	Het
Egfr	T	A	11: 16,878,174 (GRCm38)	W516R	probably damaging	Het
Folh1	T	A	7: 86,729,118 (GRCm38)	R529*	probably null	Het
Fsip2	A	C	2: 82,987,854 (GRCm38)	I4644L	probably benign	Het
Garnl3	T	C	2: 33,085,891 (GRCm38)	Y66C	probably damaging	Het
Gli3	T	C	13: 15,723,525 (GRCm38)	L730P	probably damaging	Het
Gm19668	T	C	10: 77,798,387 (GRCm38)	*249W	probably null	Het
Ighv2-6-8	T	C	12: 113,796,327 (GRCm38)	D54G	probably benign	Het
Irs2	C	A	8: 11,008,000 (GRCm38)	S144I	possibly damaging	Het
Itgb5	T	C	16: 33,940,678 (GRCm38)	C628R	probably damaging	Het
Kcnh4	A	T	11: 100,757,749 (GRCm38)	V43D	probably damaging	Het
Krtap16-3	A	T	16: 88,962,619 (GRCm38)	Y69N	unknown	Het
Lcn12	A	C	2: 25,492,033 (GRCm38)	D176E	possibly damaging	Het
Lilrb4b	T	A	10: 51,481,754 (GRCm38)	F181L	probably damaging	Het
Med13l	T	A	5: 118,742,597 (GRCm38)	H1251Q	probably benign	Het
Nppb	C	A	4: 147,986,299 (GRCm38)	L44M	probably damaging	Het
Nutm2	T	C	13: 50,472,337 (GRCm38)	V320A	probably benign	Het
Or4b1b	A	T	2: 90,281,676 (GRCm38)	W300R	probably benign	Het
Or52a24	A	G	7: 103,731,943 (GRCm38)	S6G	probably benign	Het
Or5ae2	C	T	7: 84,856,755 (GRCm38)	P131S	probably damaging	Het
Or5ak4	T	A	2: 85,331,703 (GRCm38)	H65L	probably damaging	Het
Padi6	T	C	4: 140,735,408 (GRCm38)	M301V	probably benign	Het
Pappa	G	A	4: 65,327,065 (GRCm38)	R1530Q	probably damaging	Het
Pcgf6	C	T	19: 47,045,838 (GRCm38)	D255N	possibly damaging	Het
Pgap3	TCAGCAGCAGCAGCAGCAG	TCAGCAGCAGCAGCAG	11: 98,390,749 (GRCm38)		probably benign	Het
Phip	A	G	9: 82,908,763 (GRCm38)	I710T	probably benign	Het
Pla2r1	A	T	2: 60,534,903 (GRCm38)	Y108N	probably damaging	Het
Plat	G	T	8: 22,772,232 (GRCm38)	G91W	probably damaging	Het
Rint1	C	G	5: 23,811,772 (GRCm38)	L512V	probably damaging	Het
Sdad1	A	C	5: 92,298,229 (GRCm38)	F282L	probably benign	Het
Sirt5	G	T	13: 43,380,501 (GRCm38)	A189S	probably benign	Het
Slc14a1	T	C	18: 78,111,431 (GRCm38)	T247A	probably benign	Het
Slc22a6	C	G	19: 8,621,805 (GRCm38)	R267G	probably damaging	Het
Slfn3	A	G	11: 83,213,589 (GRCm38)	K429E	possibly damaging	Het
Spag17	T	C	3: 100,027,641 (GRCm38)	F721S	probably benign	Het
Spata31d1e	T	A	13: 59,742,236 (GRCm38)	D590V	possibly damaging	Het
St3gal1	G	A	15: 67,113,662 (GRCm38)	R48C	probably damaging	Het
Sult2a6	A	G	7: 14,225,958 (GRCm38)	Y217H	probably benign	Het
Synj2	A	G	17: 6,009,785 (GRCm38)	N394S	probably damaging	Het
Telo2	A	T	17: 25,104,637 (GRCm38)	Y605*	probably null	Het
Trank1	T	A	9: 111,367,249 (GRCm38)	L1447Q	probably damaging	Het
Trim56	A	G	5: 137,112,592 (GRCm38)	L690P	probably damaging	Het
Trmt13	T	C	3: 116,582,768 (GRCm38)	T325A	probably benign	Het
Ttn	T	A	2: 76,709,467 (GRCm38)	T34392S	probably benign	Het
Uncx	A	G	5: 139,546,816 (GRCm38)	E212G	probably damaging	Het
Ush2a	A	G	1: 188,947,084 (GRCm38)	T4830A	probably benign	Het
Usp34	C	A	11: 23,412,345 (GRCm38)	T1616N		Het
Vars1	C	T	17: 35,015,977 (GRCm38)	L1261F	possibly damaging	Het
Vmn1r223	T	C	13: 23,249,850 (GRCm38)	S205P	probably damaging	Het
Vmn2r118	A	T	17: 55,610,423 (GRCm38)	I363K	possibly damaging	Het
Vmn2r69	A	T	7: 85,415,630 (GRCm38)	M16K	probably benign	Het
Wdr62	G	A	7: 30,262,703 (GRCm38)	T428I	possibly damaging	Het
Yeats4	A	T	10: 117,217,469 (GRCm38)	L129Q	probably benign	Het
Zfp423	T	C	8: 87,783,156 (GRCm38)	R187G	probably damaging	Het
Zfp853	A	T	5: 143,288,947 (GRCm38)	L321Q	unknown	Het

Other mutations in Col23a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02797:Col23a1	APN	11	51,561,916 (GRCm38)	critical splice donor site	probably null
IGL02997:Col23a1	APN	11	51,577,152 (GRCm38)	missense	probably damaging	1.00
IGL03237:Col23a1	APN	11	51,567,919 (GRCm38)	missense	possibly damaging	0.77
IGL03493:Col23a1	APN	11	51,564,805 (GRCm38)	critical splice donor site	probably null
R0755:Col23a1	UTSW	11	51,576,879 (GRCm38)	missense	probably damaging	1.00
R1523:Col23a1	UTSW	11	51,561,916 (GRCm38)	critical splice donor site	probably null
R1721:Col23a1	UTSW	11	51,527,889 (GRCm38)	missense	unknown
R1939:Col23a1	UTSW	11	51,551,989 (GRCm38)	missense	unknown
R2032:Col23a1	UTSW	11	51,560,008 (GRCm38)	missense	unknown
R2139:Col23a1	UTSW	11	51,574,034 (GRCm38)	missense	probably benign	0.03
R4829:Col23a1	UTSW	11	51,557,586 (GRCm38)	missense	unknown
R5536:Col23a1	UTSW	11	51,567,949 (GRCm38)	missense	probably damaging	1.00
R6253:Col23a1	UTSW	11	51,574,168 (GRCm38)	missense	probably damaging	1.00
R6520:Col23a1	UTSW	11	51,549,725 (GRCm38)	splice site	probably null
R6945:Col23a1	UTSW	11	51,561,893 (GRCm38)	missense	unknown
R7145:Col23a1	UTSW	11	51,565,223 (GRCm38)	critical splice donor site	probably null
R7863:Col23a1	UTSW	11	51,572,770 (GRCm38)	missense	probably damaging	1.00
R8103:Col23a1	UTSW	11	51,570,187 (GRCm38)	splice site	probably null
R8681:Col23a1	UTSW	11	51,567,929 (GRCm38)	missense	possibly damaging	0.88
R9480:Col23a1	UTSW	11	51,316,947 (GRCm38)	missense	unknown
Z1176:Col23a1	UTSW	11	51,549,708 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAGGACAGGTTTGAGCTGCC -3'
(R):5'- CAACTGAGTGGTTTCTGCTAGG -3'

Sequencing Primer
(F):5'- CTGTGTGGTCAGACCTGTGAAG -3'
(R):5'- CATTTAGGTGAGGACCCT -3'

Posted On

2020-09-02