Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02559:Col24a1'

298620

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 #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

144998233-145257766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 145019934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 102 (I102F)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

probably benign
Transcript: ENSMUST00000029848
AA Change: I102F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: I102F

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 benign
Transcript: ENSMUST00000139001

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,507,433 (GRCm39)	Q1004*	probably null	Het
Bahcc1	A	G	11: 120,175,998 (GRCm39)	D1914G	probably damaging	Het
Bcl11b	A	T	12: 107,881,653 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col7a1	C	T	9: 108,802,284 (GRCm39)	R2063C	unknown	Het
Ddo	T	A	10: 40,523,517 (GRCm39)	L169Q	probably damaging	Het
Defb4	G	T	8: 19,251,313 (GRCm39)	C60F	probably damaging	Het
Dock9	A	T	14: 121,862,559 (GRCm39)		probably benign	Het
Dysf	A	T	6: 84,044,428 (GRCm39)		probably benign	Het
Fasn	G	A	11: 120,699,892 (GRCm39)	A2253V	possibly damaging	Het
Fbxw26	T	C	9: 109,551,232 (GRCm39)	D355G	probably benign	Het
Gak	C	T	5: 108,732,098 (GRCm39)	E797K	probably null	Het
Gm10654	T	C	8: 71,384,774 (GRCm39)		noncoding transcript	Het
Gnas	T	C	2: 174,183,729 (GRCm39)		probably benign	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hdac3	A	G	18: 38,087,944 (GRCm39)	F8S	probably damaging	Het
Hrh4	T	C	18: 13,140,301 (GRCm39)		probably null	Het
Klhl1	A	G	14: 96,389,396 (GRCm39)	V586A	possibly damaging	Het
Lct	T	C	1: 128,222,003 (GRCm39)	N1512S	probably damaging	Het
Mmp28	G	T	11: 83,338,566 (GRCm39)	N128K	probably benign	Het
Mndal	T	C	1: 173,700,486 (GRCm39)	T162A	probably benign	Het
Myh3	A	G	11: 66,991,921 (GRCm39)	E1822G	possibly damaging	Het
Mylpf	A	G	7: 126,813,315 (GRCm39)	Y133C	probably damaging	Het
Nup210l	G	A	3: 90,067,260 (GRCm39)	A767T	probably benign	Het
Or10j3b	T	C	1: 173,044,088 (GRCm39)	V290A	probably damaging	Het
Or52n2	T	A	7: 104,542,161 (GRCm39)	R225W	probably benign	Het
Or5au1	A	G	14: 52,273,464 (GRCm39)	Y35H	probably damaging	Het
Paics	A	G	5: 77,112,451 (GRCm39)	I312V	possibly damaging	Het
Pkdrej	G	T	15: 85,702,049 (GRCm39)	Q1296K	probably benign	Het
Rufy1	A	G	11: 50,311,310 (GRCm39)	F170L	probably damaging	Het
Shcbp1	T	A	8: 4,799,305 (GRCm39)	E93V	probably damaging	Het
Slamf1	T	A	1: 171,594,826 (GRCm39)	I11K	possibly damaging	Het
Slc5a5	C	T	8: 71,342,915 (GRCm39)	G215D	probably damaging	Het
Slco1a1	A	T	6: 141,867,514 (GRCm39)	V473D	probably benign	Het
Slit1	A	G	19: 41,709,524 (GRCm39)	V123A	probably benign	Het
Srgap2	A	C	1: 131,452,674 (GRCm39)		probably null	Het
Stk32c	T	C	7: 138,700,606 (GRCm39)	M208V	probably benign	Het
Syt15	T	C	14: 33,943,760 (GRCm39)	V103A	probably benign	Het
Tacc2	T	A	7: 130,360,997 (GRCm39)	L456Q	probably damaging	Het
Tanc1	A	G	2: 59,554,998 (GRCm39)		probably benign	Het
Tepsin	G	T	11: 119,987,731 (GRCm39)	D62E	probably benign	Het
Thap3	T	C	4: 152,068,144 (GRCm39)	D106G	probably benign	Het
Ttn	T	C	2: 76,616,561 (GRCm39)	D14818G	probably damaging	Het
Txndc2	T	C	17: 65,946,585 (GRCm39)	N39S	possibly damaging	Het
Ubxn11	A	G	4: 133,852,254 (GRCm39)	E200G	probably damaging	Het
Vmn2r11	T	G	5: 109,200,046 (GRCm39)	Q469P	probably damaging	Het
Yipf2	T	C	9: 21,503,482 (GRCm39)	T22A	probably damaging	Het
Ypel1	T	C	16: 16,927,515 (GRCm39)	K26E	possibly damaging	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
IGL01988:Col24a1	APN	3	145,229,922 (GRCm39)	splice site	probably null
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
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

2015-04-16