Mutagenetix > Incidental Mutation

Incidental Mutation 'R8880:Col24a1'

676821

Institutional Source

Beutler Lab

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8880 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145292472-145552011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145314037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 60 (I60V)

Ref Sequence

ENSEMBL: ENSMUSP00000119736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029848] [ENSMUST00000139001]

AlphaFold

Q30D77

Predicted Effect

silent
Transcript: ENSMUST00000029848

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
TSPN	41	230	2.7e-3	SMART
LamG	106	229	8.07e-2	SMART
Pfam:Collagen	506	565	9.6e-10	PFAM
Pfam:Collagen	561	623	3.4e-10	PFAM
Pfam:Collagen	604	678	2.3e-9	PFAM
low complexity region	682	724	N/A	INTRINSIC
Pfam:Collagen	772	837	1.3e-10	PFAM
Pfam:Collagen	865	938	6e-9	PFAM
Pfam:Collagen	967	1042	3.1e-8	PFAM
low complexity region	1056	1075	N/A	INTRINSIC
Pfam:Collagen	1107	1180	8e-9	PFAM
Pfam:Collagen	1159	1218	4.2e-10	PFAM
Pfam:Collagen	1218	1279	1.8e-10	PFAM
Pfam:Collagen	1270	1334	3.1e-9	PFAM
Pfam:Collagen	1378	1443	1.3e-9	PFAM
Pfam:Collagen	1439	1500	1.8e-9	PFAM
COLFI	1533	1733	9.34e-34	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000139001
AA Change: I60V

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: This gene encodes the alpha-1 subunit of type XXIV collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein has structural features of invertebrate fibrillar collagens and is expressed predominantly in bone tissue. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,664,495	Y130H	probably damaging	Het
3425401B19Rik	C	T	14: 32,660,880	V1043I	probably benign	Het
5031439G07Rik	T	A	15: 84,955,666	I176F	possibly damaging	Het
Adam6b	T	A	12: 113,491,144	M527K	probably benign	Het
Atp10b	C	T	11: 43,215,984	T615I	probably benign	Het
Atxn2	A	G	5: 121,810,910	T1117A	probably benign	Het
AU021092	A	T	16: 5,214,721		probably benign	Het
Bcam	C	T	7: 19,758,746	V505M	probably damaging	Het
Bco2	A	T	9: 50,550,662	L14Q	probably damaging	Het
Caps2	T	G	10: 112,194,919		probably benign	Het
Cblb	T	C	16: 52,166,005	V537A	probably benign	Het
Ccdc141	A	T	2: 77,015,212	N1170K	probably benign	Het
Ccdc154	T	G	17: 25,170,155	D442E	probably benign	Het
Crb1	A	T	1: 139,237,148	N1140K	probably benign	Het
Ddhd1	G	A	14: 45,608,973	P621S	probably benign	Het
Ddx46	A	T	13: 55,666,220	N663I	probably benign	Het
Dgki	C	T	6: 37,034,717		probably benign	Het
Disp2	T	C	2: 118,790,758	F657S	probably damaging	Het
Dnajc2	T	C	5: 21,768,672	E262G	probably damaging	Het
Dvl2	T	A	11: 70,007,935	L408Q	possibly damaging	Het
Egflam	T	C	15: 7,237,768	D712G	probably damaging	Het
Entpd7	A	G	19: 43,704,407		probably benign	Het
Epb41	A	T	4: 131,967,793	W28R		Het
Fabp9	C	T	3: 10,197,171		probably benign	Het
Fkbp15	T	A	4: 62,314,365	M657L	probably benign	Het
Gfy	A	C	7: 45,178,360	L104R	possibly damaging	Het
Gm13103	T	C	4: 143,846,570		probably null	Het
Gm4070	T	C	7: 105,901,913	K644R	probably benign	Het
Gm4884	A	T	7: 41,044,487	I627F	probably damaging	Het
Gm9195	A	T	14: 72,453,880	S1643T	unknown	Het
Gpsm2	C	T	3: 108,703,019	A42T	possibly damaging	Het
Gys2	T	C	6: 142,456,387	Y242C	probably damaging	Het
Hbs1l	A	G	10: 21,309,969	N430S	probably damaging	Het
Idh3b	A	T	2: 130,284,084		probably benign	Het
Igdcc3	C	T	9: 65,181,268	A384V	probably benign	Het
Ighv3-4	C	T	12: 114,253,915	D19N	possibly damaging	Het
Igkv19-93	G	T	6: 68,736,510	A45E	probably damaging	Het
Il10ra	G	A	9: 45,264,333	T230M	probably damaging	Het
Kalrn	A	G	16: 34,217,935	V1009A	probably damaging	Het
Kcnma1	G	T	14: 23,367,650	A837D	probably damaging	Het
Kif7	T	A	7: 79,698,902	R1231S	probably benign	Het
Klhdc1	A	G	12: 69,252,043	D134G	possibly damaging	Het
Klk14	T	C	7: 43,694,035	V97A	probably damaging	Het
Lamb3	G	A	1: 193,321,055	V101M	possibly damaging	Het
Lrrc7	C	T	3: 158,161,744	E787K	probably damaging	Het
Mep1a	A	G	17: 43,497,917	I94T	possibly damaging	Het
Ncr1	C	T	7: 4,338,337	S109L	probably benign	Het
Nell2	A	T	15: 95,231,448	M678K	probably damaging	Het
Olfr165	A	T	16: 19,407,646	Y123*	probably null	Het
Olfr27	T	A	9: 39,144,603	F168I	probably damaging	Het
Olfr296-ps1	G	A	7: 86,562,341	C203Y	unknown	Het
Olfr536	C	A	7: 140,504,259	A67S	probably benign	Het
Pnpla1	A	C	17: 28,879,464	Y248S	probably damaging	Het
Prdm10	T	C	9: 31,353,446	F726L	probably damaging	Het
Prdm16	T	C	4: 154,528,913	N19S	probably damaging	Het
Prss44	A	G	9: 110,814,195	R53G	probably benign	Het
Rasgrp1	C	T	2: 117,284,944	R721Q	probably benign	Het
Rassf1	A	T	9: 107,557,541	N149I	probably damaging	Het
Rbp3	A	C	14: 33,956,839	T915P	probably benign	Het
Reg3g	A	T	6: 78,467,805	D63E	probably benign	Het
Rgs3	C	A	4: 62,625,136	T236K	probably damaging	Het
Rin2	T	C	2: 145,848,852	F147L	probably damaging	Het
Skiv2l2	T	A	13: 112,914,500	K180N	probably benign	Het
Slc17a1	T	C	13: 23,878,749	I266T	probably benign	Het
Slc34a3	A	T	2: 25,229,255	N534K	probably benign	Het
Smc2	A	T	4: 52,462,856	E615D	probably benign	Het
Snx16	A	C	3: 10,419,133	D343E	probably benign	Het
St18	T	A	1: 6,795,395	Y32*	probably null	Het
Svep1	C	T	4: 58,064,204	V3260I	possibly damaging	Het
Synm	C	T	7: 67,736,708	R402H	possibly damaging	Het
Tacc2	A	T	7: 130,716,834	E67V	possibly damaging	Het
Tarbp1	G	T	8: 126,471,305	N302K	probably damaging	Het
Tenm2	A	G	11: 36,051,961	S1294P	probably damaging	Het
Ttk	T	C	9: 83,869,251	S794P	probably damaging	Het
Ulk1	G	A	5: 110,786,422	A999V	probably damaging	Het
Upf2	A	G	2: 6,026,172	I808V	unknown	Het
Ush2a	A	G	1: 188,728,536	T2665A	probably benign	Het
Usp8	A	G	2: 126,748,309	K672E	probably damaging	Het
Vmn2r105	T	A	17: 20,208,967	I616F	probably damaging	Het
Vps33a	T	C	5: 123,569,443	M154V	probably damaging	Het
Wdfy4	A	C	14: 33,073,535	Y2083*	probably null	Het
Zc3hav1	A	G	6: 38,311,277	F875L	probably benign	Het
Zfp979	T	C	4: 147,613,379	N291S	probably benign	Het
Zp2	T	A	7: 120,143,612	Y99F	possibly damaging	Het

Other mutations in Col24a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Col24a1	APN	3	145362309	missense	probably damaging	1.00
IGL00931:Col24a1	APN	3	145461470	missense	probably benign	0.00
IGL01160:Col24a1	APN	3	145507713	missense	probably damaging	1.00
IGL01355:Col24a1	APN	3	145314876	missense	probably benign	0.07
IGL01409:Col24a1	APN	3	145538564	missense	probably benign	0.19
IGL01587:Col24a1	APN	3	145433355	splice site	probably null
IGL01666:Col24a1	APN	3	145344686	missense	possibly damaging	0.93
IGL01717:Col24a1	APN	3	145524263	splice site	probably benign
IGL01721:Col24a1	APN	3	145538567	missense	probably benign	0.26
IGL01939:Col24a1	APN	3	145315244	missense	probably damaging	1.00
IGL01988:Col24a1	APN	3	145524167	splice site	probably null
IGL02002:Col24a1	APN	3	145356944	missense	possibly damaging	0.81
IGL02172:Col24a1	APN	3	145314962	missense	probably benign	0.34
IGL02552:Col24a1	APN	3	145474207	missense	possibly damaging	0.88
IGL02559:Col24a1	APN	3	145314173	missense	probably benign
IGL02582:Col24a1	APN	3	145314486	missense	probably damaging	1.00
IGL02652:Col24a1	APN	3	145492301	nonsense	probably null
IGL02942:Col24a1	APN	3	145541665	missense	probably damaging	1.00
IGL03032:Col24a1	APN	3	145538703	critical splice donor site	probably null
IGL03108:Col24a1	APN	3	145323401	missense	probably damaging	1.00
IGL03310:Col24a1	APN	3	145313983	splice site	probably benign
IGL03405:Col24a1	APN	3	145315157	missense	possibly damaging	0.73
R0066:Col24a1	UTSW	3	145545144	missense	probably damaging	1.00
R0066:Col24a1	UTSW	3	145545144	missense	probably damaging	1.00
R0379:Col24a1	UTSW	3	145524142	missense	possibly damaging	0.94
R0502:Col24a1	UTSW	3	145545316	splice site	probably benign
R0556:Col24a1	UTSW	3	145314728	missense	possibly damaging	0.53
R0587:Col24a1	UTSW	3	145293145	missense	possibly damaging	0.50
R0617:Col24a1	UTSW	3	145314120	missense	probably damaging	1.00
R0831:Col24a1	UTSW	3	145328759	missense	probably damaging	1.00
R1455:Col24a1	UTSW	3	145460838	missense	probably damaging	1.00
R1664:Col24a1	UTSW	3	145389600	critical splice donor site	probably null
R1713:Col24a1	UTSW	3	145366869	nonsense	probably null
R1854:Col24a1	UTSW	3	145459140	missense	probably damaging	1.00
R1855:Col24a1	UTSW	3	145459140	missense	probably damaging	1.00
R1861:Col24a1	UTSW	3	145537267	critical splice donor site	probably null
R1969:Col24a1	UTSW	3	145314930	missense	probably benign	0.03
R2216:Col24a1	UTSW	3	145314981	missense	probably benign	0.34
R2290:Col24a1	UTSW	3	145513195	missense	probably damaging	1.00
R3702:Col24a1	UTSW	3	145337860	missense	probably benign	0.01
R3772:Col24a1	UTSW	3	145545286	missense	probably damaging	1.00
R4086:Col24a1	UTSW	3	145461437	missense	probably damaging	1.00
R4236:Col24a1	UTSW	3	145524282	nonsense	probably null
R4433:Col24a1	UTSW	3	145314383	missense	possibly damaging	0.95
R4688:Col24a1	UTSW	3	145314383	missense	probably benign	0.00
R4972:Col24a1	UTSW	3	145509684	missense	probably benign	0.42
R5157:Col24a1	UTSW	3	145345951	nonsense	probably null
R5216:Col24a1	UTSW	3	145315310	missense	possibly damaging	0.85
R5274:Col24a1	UTSW	3	145484678	missense	probably benign	0.03
R5334:Col24a1	UTSW	3	145461525	missense	possibly damaging	0.91
R5416:Col24a1	UTSW	3	145315025	nonsense	probably null
R5473:Col24a1	UTSW	3	145537261	missense	probably benign	0.41
R5538:Col24a1	UTSW	3	145293121	missense	probably damaging	0.99
R5561:Col24a1	UTSW	3	145298827	missense	probably benign	0.26
R5648:Col24a1	UTSW	3	145358566	missense	probably benign	0.00
R5920:Col24a1	UTSW	3	145428230	missense	probably damaging	1.00
R6111:Col24a1	UTSW	3	145314054	missense	probably damaging	0.99
R6151:Col24a1	UTSW	3	145314054	missense	probably damaging	0.99
R6701:Col24a1	UTSW	3	145314380	missense	probably benign	0.00
R6728:Col24a1	UTSW	3	145315196	missense	probably benign
R6734:Col24a1	UTSW	3	145508674	missense	probably benign	0.06
R6861:Col24a1	UTSW	3	145460834	missense	probably damaging	1.00
R6982:Col24a1	UTSW	3	145315046	nonsense	probably null
R7001:Col24a1	UTSW	3	145298866	missense	probably benign	0.28
R7148:Col24a1	UTSW	3	145315299	missense	probably damaging	1.00
R7293:Col24a1	UTSW	3	145486304	nonsense	probably null
R7315:Col24a1	UTSW	3	145431870	missense	possibly damaging	0.82
R7358:Col24a1	UTSW	3	145293165	critical splice donor site	probably null
R7371:Col24a1	UTSW	3	145343698	missense	probably benign	0.06
R7383:Col24a1	UTSW	3	145298838	missense	probably benign
R7605:Col24a1	UTSW	3	145538687	missense	possibly damaging	0.67
R7650:Col24a1	UTSW	3	145314453	missense	probably benign	0.00
R7679:Col24a1	UTSW	3	145399355	missense	possibly damaging	0.81
R7701:Col24a1	UTSW	3	145315011	missense	probably benign
R7701:Col24a1	UTSW	3	145366901	splice site	probably null
R7805:Col24a1	UTSW	3	145314140	missense	probably benign	0.02
R7913:Col24a1	UTSW	3	145431866	nonsense	probably null
R7921:Col24a1	UTSW	3	145474238	missense	probably damaging	1.00
R8056:Col24a1	UTSW	3	145314164	missense	possibly damaging	0.73
R8240:Col24a1	UTSW	3	145507702	missense	probably benign	0.31
R8294:Col24a1	UTSW	3	145481089	missense	probably null	1.00
R8305:Col24a1	UTSW	3	145474182	missense	probably benign	0.00
R8430:Col24a1	UTSW	3	145315299	missense	probably damaging	1.00
R8708:Col24a1	UTSW	3	145545265	missense	probably damaging	0.99
R9056:Col24a1	UTSW	3	145315248	missense	probably damaging	0.96
R9461:Col24a1	UTSW	3	145481124	nonsense	probably null
R9612:Col24a1	UTSW	3	145545205	missense	probably benign	0.32
R9777:Col24a1	UTSW	3	145315342	nonsense	probably null
Z1176:Col24a1	UTSW	3	145342498	missense	probably damaging	1.00
Z1177:Col24a1	UTSW	3	145342499	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTTACCTAGAAATTGCTCATGGG -3'
(R):5'- ACTGCAGTCTGTTGTTATTCCG -3'

Sequencing Primer
(F):5'- ATTGCTCATGGGTAGAACATGC -3'
(R):5'- GTTCACTTTGAATGATTGCAACCC -3'

Posted On

2021-07-15