Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01988:Col24a1'

182013

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 #

IGL01988

Quality Score

Status

Chromosome

Chromosomal Location

144998233-145257766 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 145229922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000127379

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,101,107 (GRCm39)	S493R	probably benign	Het
Abca17	T	C	17: 24,553,229 (GRCm39)	N161D	probably damaging	Het
Ace2	C	A	X: 162,946,988 (GRCm39)	N290K	possibly damaging	Het
Adam26a	G	A	8: 44,022,207 (GRCm39)	P428S	possibly damaging	Het
Adgrv1	T	C	13: 81,705,428 (GRCm39)	R1461G	probably damaging	Het
Arhgef10l	T	C	4: 140,305,672 (GRCm39)		probably benign	Het
Bicc1	A	G	10: 70,792,006 (GRCm39)	V334A	probably damaging	Het
C8a	T	C	4: 104,683,891 (GRCm39)	Y408C	probably damaging	Het
Copa	T	A	1: 171,945,831 (GRCm39)	N931K	probably benign	Het
Cr1l	A	G	1: 194,799,858 (GRCm39)	M272T	probably damaging	Het
Dcaf12	T	C	4: 41,298,299 (GRCm39)	N283S	probably benign	Het
Dnttip2	T	A	3: 122,069,944 (GRCm39)	S386R	probably benign	Het
Fbll1	G	T	11: 35,688,728 (GRCm39)	D178E	probably benign	Het
Fgd6	A	G	10: 93,910,197 (GRCm39)		probably benign	Het
Fyn	T	A	10: 39,409,917 (GRCm39)	L408*	probably null	Het
Gkn2	T	C	6: 87,356,257 (GRCm39)	V176A	probably benign	Het
Gm10764	G	A	10: 87,126,953 (GRCm39)	C120Y	unknown	Het
Gpr19	A	T	6: 134,846,247 (GRCm39)	F442I	probably damaging	Het
Herc1	A	G	9: 66,395,357 (GRCm39)		probably benign	Het
Il7	A	G	3: 7,669,126 (GRCm39)	Y37H	possibly damaging	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Kif1c	A	G	11: 70,595,762 (GRCm39)	D156G	probably damaging	Het
Lrch1	T	C	14: 75,032,813 (GRCm39)		probably benign	Het
Nedd1	G	T	10: 92,550,021 (GRCm39)	T88K	probably benign	Het
Nlrc3	T	G	16: 3,771,803 (GRCm39)	S875R	probably benign	Het
Optc	A	G	1: 133,834,667 (GRCm39)		probably null	Het
Or4a78	T	A	2: 89,497,424 (GRCm39)	I269F	probably benign	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Pde1b	A	G	15: 103,433,283 (GRCm39)		probably null	Het
Phf11a	A	T	14: 59,514,807 (GRCm39)	D291E	probably damaging	Het
Slc30a8	A	T	15: 52,198,601 (GRCm39)	I349L	probably benign	Het
Spty2d1	T	A	7: 46,647,358 (GRCm39)	S524C	probably damaging	Het
Syndig1	T	C	2: 149,845,090 (GRCm39)		probably benign	Het
Syvn1	G	A	19: 6,102,437 (GRCm39)	A502T	probably benign	Het
Tenm2	A	G	11: 35,918,078 (GRCm39)	L1894P	probably damaging	Het
Tmem176a	T	A	6: 48,819,554 (GRCm39)	V11E	possibly damaging	Het
Tpr	G	T	1: 150,302,750 (GRCm39)		probably null	Het
Txnrd2	T	C	16: 18,274,768 (GRCm39)		probably benign	Het
Ubqln3	G	A	7: 103,792,089 (GRCm39)		probably benign	Het
Vmn1r6	C	T	6: 56,979,650 (GRCm39)	T82I	probably damaging	Het
Wdfy4	C	T	14: 32,798,437 (GRCm39)	E1990K	possibly damaging	Het
Zdhhc7	T	C	8: 120,809,329 (GRCm39)	R293G	probably benign	Het
Zeb1	T	A	18: 5,759,037 (GRCm39)	L148*	probably null	Het

Other mutations in Col24a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Col24a1	APN	3	145,068,064 (GRCm39)	missense	probably damaging	1.00
IGL00931:Col24a1	APN	3	145,167,225 (GRCm39)	missense	probably benign	0.00
IGL01160:Col24a1	APN	3	145,213,468 (GRCm39)	missense	probably damaging	1.00
IGL01355:Col24a1	APN	3	145,020,637 (GRCm39)	missense	probably benign	0.07
IGL01409:Col24a1	APN	3	145,244,319 (GRCm39)	missense	probably benign	0.19
IGL01587:Col24a1	APN	3	145,139,110 (GRCm39)	splice site	probably null
IGL01666:Col24a1	APN	3	145,050,447 (GRCm39)	missense	possibly damaging	0.93
IGL01717:Col24a1	APN	3	145,230,018 (GRCm39)	splice site	probably benign
IGL01721:Col24a1	APN	3	145,244,322 (GRCm39)	missense	probably benign	0.26
IGL01939:Col24a1	APN	3	145,021,005 (GRCm39)	missense	probably damaging	1.00
IGL02002:Col24a1	APN	3	145,062,699 (GRCm39)	missense	possibly damaging	0.81
IGL02172:Col24a1	APN	3	145,020,723 (GRCm39)	missense	probably benign	0.34
IGL02552:Col24a1	APN	3	145,179,962 (GRCm39)	missense	possibly damaging	0.88
IGL02559:Col24a1	APN	3	145,019,934 (GRCm39)	missense	probably benign
IGL02582:Col24a1	APN	3	145,020,247 (GRCm39)	missense	probably damaging	1.00
IGL02652:Col24a1	APN	3	145,198,056 (GRCm39)	nonsense	probably null
IGL02942:Col24a1	APN	3	145,247,420 (GRCm39)	missense	probably damaging	1.00
IGL03032:Col24a1	APN	3	145,244,458 (GRCm39)	critical splice donor site	probably null
IGL03108:Col24a1	APN	3	145,029,162 (GRCm39)	missense	probably damaging	1.00
IGL03310:Col24a1	APN	3	145,019,744 (GRCm39)	splice site	probably benign
IGL03405:Col24a1	APN	3	145,020,918 (GRCm39)	missense	possibly damaging	0.73
R0066:Col24a1	UTSW	3	145,250,899 (GRCm39)	missense	probably damaging	1.00
R0066:Col24a1	UTSW	3	145,250,899 (GRCm39)	missense	probably damaging	1.00
R0379:Col24a1	UTSW	3	145,229,897 (GRCm39)	missense	possibly damaging	0.94
R0502:Col24a1	UTSW	3	145,251,071 (GRCm39)	splice site	probably benign
R0556:Col24a1	UTSW	3	145,020,489 (GRCm39)	missense	possibly damaging	0.53
R0587:Col24a1	UTSW	3	144,998,906 (GRCm39)	missense	possibly damaging	0.50
R0617:Col24a1	UTSW	3	145,019,881 (GRCm39)	missense	probably damaging	1.00
R0831:Col24a1	UTSW	3	145,034,520 (GRCm39)	missense	probably damaging	1.00
R1455:Col24a1	UTSW	3	145,166,593 (GRCm39)	missense	probably damaging	1.00
R1664:Col24a1	UTSW	3	145,095,355 (GRCm39)	critical splice donor site	probably null
R1713:Col24a1	UTSW	3	145,072,624 (GRCm39)	nonsense	probably null
R1854:Col24a1	UTSW	3	145,164,895 (GRCm39)	missense	probably damaging	1.00
R1855:Col24a1	UTSW	3	145,164,895 (GRCm39)	missense	probably damaging	1.00
R1861:Col24a1	UTSW	3	145,243,022 (GRCm39)	critical splice donor site	probably null
R1969:Col24a1	UTSW	3	145,020,691 (GRCm39)	missense	probably benign	0.03
R2216:Col24a1	UTSW	3	145,020,742 (GRCm39)	missense	probably benign	0.34
R2290:Col24a1	UTSW	3	145,218,950 (GRCm39)	missense	probably damaging	1.00
R3702:Col24a1	UTSW	3	145,043,621 (GRCm39)	missense	probably benign	0.01
R3772:Col24a1	UTSW	3	145,251,041 (GRCm39)	missense	probably damaging	1.00
R4086:Col24a1	UTSW	3	145,167,192 (GRCm39)	missense	probably damaging	1.00
R4236:Col24a1	UTSW	3	145,230,037 (GRCm39)	nonsense	probably null
R4433:Col24a1	UTSW	3	145,020,144 (GRCm39)	missense	possibly damaging	0.95
R4688:Col24a1	UTSW	3	145,020,144 (GRCm39)	missense	probably benign	0.00
R4972:Col24a1	UTSW	3	145,215,439 (GRCm39)	missense	probably benign	0.42
R5157:Col24a1	UTSW	3	145,051,712 (GRCm39)	nonsense	probably null
R5216:Col24a1	UTSW	3	145,021,071 (GRCm39)	missense	possibly damaging	0.85
R5274:Col24a1	UTSW	3	145,190,433 (GRCm39)	missense	probably benign	0.03
R5334:Col24a1	UTSW	3	145,167,280 (GRCm39)	missense	possibly damaging	0.91
R5416:Col24a1	UTSW	3	145,020,786 (GRCm39)	nonsense	probably null
R5473:Col24a1	UTSW	3	145,243,016 (GRCm39)	missense	probably benign	0.41
R5538:Col24a1	UTSW	3	144,998,882 (GRCm39)	missense	probably damaging	0.99
R5561:Col24a1	UTSW	3	145,004,588 (GRCm39)	missense	probably benign	0.26
R5648:Col24a1	UTSW	3	145,064,321 (GRCm39)	missense	probably benign	0.00
R5920:Col24a1	UTSW	3	145,133,985 (GRCm39)	missense	probably damaging	1.00
R6111:Col24a1	UTSW	3	145,019,815 (GRCm39)	missense	probably damaging	0.99
R6151:Col24a1	UTSW	3	145,019,815 (GRCm39)	missense	probably damaging	0.99
R6701:Col24a1	UTSW	3	145,020,141 (GRCm39)	missense	probably benign	0.00
R6728:Col24a1	UTSW	3	145,020,957 (GRCm39)	missense	probably benign
R6734:Col24a1	UTSW	3	145,214,429 (GRCm39)	missense	probably benign	0.06
R6861:Col24a1	UTSW	3	145,166,589 (GRCm39)	missense	probably damaging	1.00
R6982:Col24a1	UTSW	3	145,020,807 (GRCm39)	nonsense	probably null
R7001:Col24a1	UTSW	3	145,004,627 (GRCm39)	missense	probably benign	0.28
R7148:Col24a1	UTSW	3	145,021,060 (GRCm39)	missense	probably damaging	1.00
R7293:Col24a1	UTSW	3	145,192,059 (GRCm39)	nonsense	probably null
R7315:Col24a1	UTSW	3	145,137,625 (GRCm39)	missense	possibly damaging	0.82
R7358:Col24a1	UTSW	3	144,998,926 (GRCm39)	critical splice donor site	probably null
R7371:Col24a1	UTSW	3	145,049,459 (GRCm39)	missense	probably benign	0.06
R7383:Col24a1	UTSW	3	145,004,599 (GRCm39)	missense	probably benign
R7605:Col24a1	UTSW	3	145,244,442 (GRCm39)	missense	possibly damaging	0.67
R7650:Col24a1	UTSW	3	145,020,214 (GRCm39)	missense	probably benign	0.00
R7679:Col24a1	UTSW	3	145,105,110 (GRCm39)	missense	possibly damaging	0.81
R7701:Col24a1	UTSW	3	145,072,656 (GRCm39)	splice site	probably null
R7701:Col24a1	UTSW	3	145,020,772 (GRCm39)	missense	probably benign
R7805:Col24a1	UTSW	3	145,019,901 (GRCm39)	missense	probably benign	0.02
R7913:Col24a1	UTSW	3	145,137,621 (GRCm39)	nonsense	probably null
R7921:Col24a1	UTSW	3	145,179,993 (GRCm39)	missense	probably damaging	1.00
R8056:Col24a1	UTSW	3	145,019,925 (GRCm39)	missense	possibly damaging	0.73
R8240:Col24a1	UTSW	3	145,213,457 (GRCm39)	missense	probably benign	0.31
R8294:Col24a1	UTSW	3	145,186,844 (GRCm39)	missense	probably null	1.00
R8305:Col24a1	UTSW	3	145,179,937 (GRCm39)	missense	probably benign	0.00
R8430:Col24a1	UTSW	3	145,021,060 (GRCm39)	missense	probably damaging	1.00
R8708:Col24a1	UTSW	3	145,251,020 (GRCm39)	missense	probably damaging	0.99
R8880:Col24a1	UTSW	3	145,019,798 (GRCm39)	missense	probably null
R9056:Col24a1	UTSW	3	145,021,009 (GRCm39)	missense	probably damaging	0.96
R9461:Col24a1	UTSW	3	145,186,879 (GRCm39)	nonsense	probably null
R9612:Col24a1	UTSW	3	145,250,960 (GRCm39)	missense	probably benign	0.32
R9777:Col24a1	UTSW	3	145,021,103 (GRCm39)	nonsense	probably null
Z1176:Col24a1	UTSW	3	145,048,259 (GRCm39)	missense	probably damaging	1.00
Z1177:Col24a1	UTSW	3	145,048,260 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07