Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02002:Col24a1'

183077

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02002

Quality Score

Status

Chromosome

Chromosomal Location

145292472-145552011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145356944 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 675 (F675I)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029848
AA Change: F675I

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: F675I

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

Coding Region Coverage

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	T	7: 28,152,796	Y1248F	probably damaging	Het
Abcg5	G	T	17: 84,682,051	Y76*	probably null	Het
Acadsb	T	A	7: 131,428,529	V135E	probably damaging	Het
Acap1	A	G	11: 69,884,460	Y326H	probably damaging	Het
Actl11	T	A	9: 107,929,330	V284D	probably benign	Het
Adcy10	G	T	1: 165,521,843	D428Y	probably damaging	Het
Akap8	A	G	17: 32,309,496	C481R	probably damaging	Het
Amotl2	G	A	9: 102,725,117	A26T	probably damaging	Het
Apob	T	C	12: 7,994,822	V814A	probably benign	Het
Casp8ap2	T	A	4: 32,639,391	N148K	probably damaging	Het
Ccdc149	G	A	5: 52,406,079	T124M	probably damaging	Het
Cd320	A	G	17: 33,843,240		probably benign	Het
Clca4b	T	C	3: 144,932,433	T23A	probably benign	Het
Col22a1	A	G	15: 71,811,097		probably benign	Het
Col6a3	A	G	1: 90,782,136		probably benign	Het
Dap3	A	T	3: 88,936,228	M19K	probably benign	Het
Dsg2	A	G	18: 20,579,176	D123G	probably damaging	Het
Dysf	T	A	6: 84,210,787		probably benign	Het
Erbb4	A	G	1: 68,080,726	S853P	probably damaging	Het
Fbn2	A	G	18: 58,114,553	M423T	probably benign	Het
Fgfr1	T	C	8: 25,555,711	Y112H	probably damaging	Het
Gbp7	G	A	3: 142,538,900	A203T	probably damaging	Het
Gon4l	C	T	3: 88,895,336	P1085S	possibly damaging	Het
Gsdma2	T	C	11: 98,650,974	F176L	probably damaging	Het
Haghl	A	G	17: 25,784,265	F131S	probably damaging	Het
Hmcn1	G	A	1: 150,615,298	P4167S	probably damaging	Het
Hscb	T	C	5: 110,830,954	N199D	probably benign	Het
Lmbr1l	T	A	15: 98,904,785	N428Y	probably damaging	Het
Mc2r	T	A	18: 68,407,434	M263L	probably benign	Het
Metap1	T	A	3: 138,462,389	T325S	probably damaging	Het
Mff	A	G	1: 82,741,975	R225G	probably damaging	Het
Naprt	A	T	15: 75,891,372	L474Q	probably damaging	Het
Nin	A	T	12: 70,062,699	Y155*	probably null	Het
Nrg3	A	T	14: 38,370,767	C612*	probably null	Het
Olfr170	T	C	16: 19,606,550	I39M	possibly damaging	Het
Olfr472	A	T	7: 107,903,290	D191V	possibly damaging	Het
Olfr781	T	A	10: 129,333,127	I82K	probably damaging	Het
Pdilt	A	T	7: 119,500,444	F200L	probably damaging	Het
Ppard	T	G	17: 28,298,903	F315C	probably damaging	Het
Ror1	T	A	4: 100,441,184	S585T	probably damaging	Het
Spdye4a	T	A	5: 143,225,705	I35F	possibly damaging	Het
Tenm2	T	C	11: 36,207,095	K442R	probably benign	Het
Tln2	A	G	9: 67,356,698	I553T	probably damaging	Het
Tmem269	T	A	4: 119,214,141	I26F	probably benign	Het
Tsen2	T	C	6: 115,559,607	V108A	probably benign	Het
Ttyh3	A	T	5: 140,629,483	D383E	probably damaging	Het
Usp13	T	C	3: 32,847,825	S102P	probably damaging	Het
Vmn2r118	T	G	17: 55,592,619	S762R	probably damaging	Het
Washc4	A	G	10: 83,579,543	N799S	possibly damaging	Het
Zcchc6	A	G	13: 59,782,096	S1042P	possibly damaging	Het
Zdhhc17	C	T	10: 110,967,689	V256I	probably benign	Het
Zfp51	T	A	17: 21,463,959	F279I	probably damaging	Het
Zzz3	A	G	3: 152,451,369	T223A	probably 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
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
R8880:Col24a1	UTSW	3	145314037	missense	probably null
Z1176:Col24a1	UTSW	3	145342498	missense	probably damaging	1.00
Z1177:Col24a1	UTSW	3	145342499	missense	probably damaging	1.00

Posted On

2014-05-07