Mutagenetix > Incidental Mutation

Incidental Mutation 'R0556:Col24a1'

45549

Institutional Source

Beutler Lab

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

MMRRC Submission

038748-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0556 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

145292472-145552011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145314728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 287 (T287A)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029848
AA Change: T287A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: T287A

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 14,943,951	Y113*	probably null	Het
4930402F06Rik	T	C	2: 35,390,470		probably benign	Het
4931406P16Rik	T	C	7: 34,239,797	T222A	probably damaging	Het
9530053A07Rik	C	T	7: 28,159,378	H2308Y	probably benign	Het
Acad11	A	G	9: 104,115,302	E481G	probably damaging	Het
Aldh1a1	A	T	19: 20,634,478	N389Y	probably damaging	Het
Bmpr2	C	T	1: 59,815,328	T112M	probably damaging	Het
Bms1	A	G	6: 118,413,179	Y227H	probably damaging	Het
Cab39	A	G	1: 85,835,491		probably benign	Het
Ccno	T	C	13: 112,988,286		probably null	Het
Cct6b	A	G	11: 82,719,444		probably benign	Het
Cd101	A	C	3: 101,020,654	I37S	probably damaging	Het
Ces1a	T	C	8: 93,045,112	H19R	probably benign	Het
Clec16a	A	G	16: 10,638,785		probably null	Het
Cntnap1	T	C	11: 101,183,996	F831S	probably benign	Het
Colgalt2	C	T	1: 152,471,813		probably benign	Het
Cpd	A	G	11: 76,802,345		probably benign	Het
Cyp3a16	C	A	5: 145,455,980	M145I	probably benign	Het
Ddx54	T	A	5: 120,619,654		probably benign	Het
Dock7	A	T	4: 98,945,189	L1925Q	probably damaging	Het
Eif4g1	A	T	16: 20,675,794	Y127F	probably damaging	Het
Erap1	T	A	13: 74,660,325	V52E	probably damaging	Het
Fbxo6	G	T	4: 148,146,175	T210N	probably damaging	Het
Gnat3	T	G	5: 18,019,598	V332G	probably damaging	Het
Ift22	T	A	5: 136,911,291		probably null	Het
Igkv4-71	A	G	6: 69,243,187	C109R	probably damaging	Het
Igsf10	A	G	3: 59,328,875	L1295P	probably benign	Het
Itga4	T	C	2: 79,325,639	I983T	probably benign	Het
Lhcgr	A	T	17: 88,772,063	V65D	probably damaging	Het
Mau2	G	C	8: 70,042,432	T85R	probably damaging	Het
Morc2a	T	C	11: 3,681,809		probably null	Het
Morc2b	A	T	17: 33,137,838	M320K	probably benign	Het
Ms4a18	C	A	19: 11,013,701	V10F	probably damaging	Het
Mstn	A	T	1: 53,064,125	I207F	probably benign	Het
Mtor	A	G	4: 148,469,380	E812G	possibly damaging	Het
Myo1h	A	G	5: 114,319,791	Y121C	probably damaging	Het
Nov	A	T	15: 54,749,167	T191S	probably damaging	Het
Olfr1196	A	C	2: 88,700,771	V186G	possibly damaging	Het
Olfr743	T	C	14: 50,533,924	S171P	probably benign	Het
Olfr920	A	T	9: 38,755,745	D19V	possibly damaging	Het
Plcd3	G	A	11: 103,077,806	T353M	probably damaging	Het
Pnpla7	T	A	2: 25,052,301		probably null	Het
Ppp1r12b	T	A	1: 134,777,322	Y876F	probably damaging	Het
Prelid2	T	A	18: 41,951,180		probably benign	Het
Prickle1	A	G	15: 93,500,781	L722P	probably benign	Het
Prr12	A	G	7: 45,030,669	L1887P	unknown	Het
Ptk2b	A	G	14: 66,172,144	L481P	probably damaging	Het
Rgl3	T	A	9: 21,975,844	K531*	probably null	Het
Sacs	A	G	14: 61,183,958	I115V	probably damaging	Het
Sept3	G	T	15: 82,283,765		probably benign	Het
Simc1	T	C	13: 54,525,347	S503P	probably benign	Het
Stard9	T	C	2: 120,698,923	V1887A	probably benign	Het
Synj2	T	A	17: 6,037,955	L1427*	probably null	Het
Taar2	A	G	10: 23,940,895	D111G	probably damaging	Het
Tlr5	A	G	1: 182,974,151	N340S	probably damaging	Het
Tmco2	A	G	4: 121,109,117	L14P	probably damaging	Het
Tnik	A	T	3: 28,625,218	D746V	possibly damaging	Het
Trip11	C	A	12: 101,884,518	E811*	probably null	Het
Ttll9	T	C	2: 152,973,606		probably null	Het
Uchl1	A	G	5: 66,682,481	E122G	probably benign	Het
Vwa3b	C	A	1: 37,164,485		probably benign	Het
Zan	T	C	5: 137,454,220	N1533S	unknown	Het
Zfp687	G	T	3: 95,010,408	D684E	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCGGAGTATTGCAGACACCTGAAAC -3'
(R):5'- TGTTGTCGAATCCAGCGAAGAGAG -3'

Sequencing Primer
(F):5'- TGAAACAGCAGTGCCTCAG -3'
(R):5'- CATTCTTGCCTCACTAGGGAG -3'

Posted On

2013-06-11