Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02552:Col24a1'

298155

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02552

Quality Score

Status

Chromosome

Chromosomal Location

145292472-145552011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 145474207 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1151 (S1151R)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029848
AA Change: S1151R

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: S1151R

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,414,496	L178S	probably damaging	Het
2010005H15Rik	A	G	16: 36,253,089	E15G	probably damaging	Het
9130409I23Rik	T	A	1: 181,054,898	V75E	possibly damaging	Het
Abca12	A	G	1: 71,294,747	Y1199H	probably damaging	Het
Abcc9	T	C	6: 142,605,919	D1221G	possibly damaging	Het
Apc	T	A	18: 34,312,982	M977K	possibly damaging	Het
Arhgap30	T	A	1: 171,407,756	L566Q	probably damaging	Het
Arhgap40	T	A	2: 158,546,801	W552R	probably benign	Het
Astn1	C	T	1: 158,505,395	S349F	possibly damaging	Het
Bard1	T	C	1: 71,065,656		probably benign	Het
Batf2	T	A	19: 6,171,507	Y116N	probably benign	Het
Cbx6	T	C	15: 79,828,893	H111R	probably damaging	Het
Cd44	T	A	2: 102,848,731	N242I	probably benign	Het
Cdnf	C	T	2: 3,523,975	Q184*	probably null	Het
Chd2	C	A	7: 73,447,320		probably benign	Het
Cmtm6	G	A	9: 114,737,306	V88M	probably damaging	Het
Dnajc2	T	C	5: 21,783,063	D6G	probably damaging	Het
Eif3a	G	A	19: 60,763,226		probably benign	Het
Fbn1	C	A	2: 125,412,713	C210F	possibly damaging	Het
Fmn2	T	A	1: 174,695,720	D1380E	probably damaging	Het
Fry	A	T	5: 150,380,910	K588N	probably damaging	Het
Gm18856	G	A	13: 13,965,220		probably benign	Het
Gpr37	G	T	6: 25,688,687	T137K	probably benign	Het
Gzmc	T	C	14: 56,234,582	M1V	probably null	Het
Htr5a	T	C	5: 27,842,960	V171A	probably benign	Het
Ints6l	T	C	X: 56,455,197		probably benign	Het
Kcnma1	C	T	14: 23,386,259		probably null	Het
Krt35	C	T	11: 100,093,073	G367D	probably benign	Het
Nlrp1b	C	T	11: 71,182,052	V322I	possibly damaging	Het
Nlrp1b	C	T	11: 71,172,231	V668I	possibly damaging	Het
Ntf3	T	C	6: 126,101,860	N228D	probably damaging	Het
Nup133	G	A	8: 123,929,255	R496W	possibly damaging	Het
Olfr1258	T	C	2: 89,930,559	V250A	probably benign	Het
Olfr640	C	A	7: 104,022,256	G21W	probably damaging	Het
Pah	C	T	10: 87,578,845		probably benign	Het
Pan2	G	T	10: 128,319,027	W1112L	probably damaging	Het
Pkn3	G	A	2: 30,080,867	R209Q	probably damaging	Het
Plaa	C	T	4: 94,582,480		probably null	Het
Qprt	C	T	7: 127,108,855	A135T	probably damaging	Het
Rbbp6	T	G	7: 122,982,981	S108A	probably damaging	Het
Smg1	T	A	7: 118,195,894		probably benign	Het
Spink5	T	A	18: 43,992,168	C368S	possibly damaging	Het
Sptan1	T	A	2: 30,018,474	I1734N	probably damaging	Het
Stk38l	C	T	6: 146,767,533	L170F	probably damaging	Het
Tesmin	C	T	19: 3,402,483		probably benign	Het
Tjp1	A	T	7: 65,299,782	C1697*	probably null	Het
Tmco4	T	C	4: 139,058,379	S587P	probably benign	Het
Tmem208	G	A	8: 105,328,697		probably null	Het
Trim30d	T	C	7: 104,472,416	Q224R	probably damaging	Het
Trpm7	T	A	2: 126,840,779	D390V	probably damaging	Het
Uba7	A	G	9: 107,981,390	I807V	probably benign	Het
Uhrf1bp1l	T	A	10: 89,806,743	L10*	probably null	Het
Utp18	C	A	11: 93,868,334	C438F	probably damaging	Het
Vps13d	T	C	4: 145,173,137	K191E	possibly damaging	Het
Wdr27	A	G	17: 14,926,191	S181P	probably damaging	Het
Zfp462	T	C	4: 55,010,613	Y860H	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
IGL02002:Col24a1	APN	3	145356944	missense	possibly damaging	0.81
IGL02172:Col24a1	APN	3	145314962	missense	probably benign	0.34
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
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

Posted On

2015-04-16