Mutagenetix > Incidental Mutation

Incidental Mutation 'R9777:Col24a1'

733759

Institutional Source

Beutler Lab

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9777 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145292472-145552011 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 145315342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 491 (Y491*)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

probably null
Transcript: ENSMUST00000029848
AA Change: Y491*

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: Y491*

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

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	C	10: 10,407,470	M164R	possibly damaging	Het
Alg10b	T	A	15: 90,227,453	C167S	probably benign	Het
Ap2m1	C	A	16: 20,539,363	R44S	probably damaging	Het
Atrip	T	C	9: 109,073,896	S37G	probably benign	Het
Bicra	C	T	7: 15,972,062	V1485M	probably benign	Het
Brca2	C	T	5: 150,557,114	T2755I	probably damaging	Het
C1qtnf7	A	T	5: 43,515,970		probably benign	Het
Ccdc7a	C	T	8: 128,892,379	A895T	possibly damaging	Het
Cep290	T	C	10: 100,518,667	M871T	probably benign	Het
Col19a1	A	G	1: 24,279,823	V1062A	unknown	Het
Cyp2c66	A	T	19: 39,114,076	I50F	probably benign	Het
Dbn1	C	A	13: 55,477,826	R261L	probably benign	Het
Dlat	G	A	9: 50,650,908	A272V	probably damaging	Het
Dlgap3	A	T	4: 127,236,334	E967V	possibly damaging	Het
Dnhd1	A	G	7: 105,720,249	M4360V	probably benign	Het
Dock7	C	T	4: 98,989,227	R1058Q	unknown	Het
Dpp4	T	A	2: 62,364,996	I313F	probably benign	Het
Dus1l	C	T	11: 120,793,032	V197I	possibly damaging	Het
Eef2k	TATTCATTCATTCATTCATTCATTCATTCA	TATTCATTCATTCATTCATTCATTCA	7: 120,900,230		probably benign	Het
Fat3	A	G	9: 15,915,241	S324P	probably benign	Het
Fkbp9	C	T	6: 56,878,196	H567Y	possibly damaging	Het
Galnt10	C	A	11: 57,781,239	P452T	probably damaging	Het
Glb1	A	T	9: 114,417,016	D45V	probably damaging	Het
Gm14548	T	G	7: 3,894,613	R494S	probably damaging	Het
Gm9733	C	A	3: 15,320,753	E30*	probably null	Het
Grm1	A	T	10: 10,698,082	V904E	possibly damaging	Het
Gsdma3	T	G	11: 98,635,245	V274G	probably damaging	Het
Gsn	A	G	2: 35,304,588	E681G	probably damaging	Het
Hpdl	A	G	4: 116,820,865	L133P	probably damaging	Het
Ighv1-75	A	G	12: 115,834,035	L89P	probably damaging	Het
Igsf21	T	A	4: 140,028,096	Q416L	probably damaging	Het
Il23a	G	C	10: 128,296,960	R143G	probably benign	Het
Ildr1	A	G	16: 36,708,297	T35A	probably benign	Het
Ints13	G	T	6: 146,561,828	H235Q	probably damaging	Het
Lama4	C	T	10: 39,048,105	T503I	probably benign	Het
Mapk13	T	A	17: 28,778,101	L289Q	probably damaging	Het
Med13l	T	C	5: 118,748,959	S1642P	probably benign	Het
Megf6	T	A	4: 154,259,160	S713R	probably damaging	Het
Mical3	A	G	6: 120,982,568	V922A	possibly damaging	Het
Mug1	C	T	6: 121,880,905	T1119M	probably damaging	Het
Myo18a	T	A	11: 77,842,254	M1370K	possibly damaging	Het
Ndufa12	A	G	10: 94,220,830	E140G	probably damaging	Het
Nek4	T	A	14: 30,984,444	D696E	probably benign	Het
Oas1f	A	G	5: 120,856,366	T317A	probably benign	Het
Olfr292	T	C	7: 86,694,780	V108A	probably benign	Het
Olfr458	A	G	6: 42,460,095	I308T	probably benign	Het
Olfr800	T	C	10: 129,659,836	I10T	probably benign	Het
Pcdh17	C	T	14: 84,446,243	P50L	probably benign	Het
Pgs1	A	G	11: 118,003,430	E261G	probably benign	Het
Ppp1r1a	T	C	15: 103,531,430	E145G	possibly damaging	Het
Ppp1r37	T	C	7: 19,561,858	E58G	probably benign	Het
Ptprc	A	T	1: 138,120,163	V77E		Het
Rhag	A	G	17: 40,828,525	E117G	probably benign	Het
Sh3d19	C	T	3: 86,121,176	S653L	probably benign	Het
Slc35a5	C	T	16: 45,152,576		probably null	Het
Smc4	C	T	3: 69,022,322	R510*	probably null	Het
Sorcs1	A	G	19: 50,259,752		probably null	Het
Sp140	A	G	1: 85,641,740	N357S	probably damaging	Het
Spic	T	A	10: 88,678,559	T60S	possibly damaging	Het
Steap1	C	A	5: 5,736,517	A307S	probably benign	Het
Stk3	A	T	15: 35,114,645	S40R	probably damaging	Het
Taar1	T	C	10: 23,920,778	C125R	probably damaging	Het
Tep1	T	A	14: 50,838,986	K1664*	probably null	Het
Tmem198b	C	A	10: 128,802,404	V97L	possibly damaging	Het
Xirp2	C	A	2: 67,517,035	P3207T	possibly damaging	Het
Zbtb38	C	G	9: 96,688,302	S243T	possibly damaging	Het
Zbtb38	T	A	9: 96,688,303	S243C	probably damaging	Het
Zfp692	C	T	11: 58,308,812	R76W	probably benign	Het
Zwilch	A	T	9: 64,146,888	L509H	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
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
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'- AAGGCTCTCACGGCAAATCTATAC -3'
(R):5'- CTGATGTCATCCGATGTGGC -3'

Sequencing Primer
(F):5'- TACACCAATGAGCTCATAGAAATGG -3'
(R):5'- GGGTACATTTCTTAAGCAGACCCAG -3'

Posted On

2022-11-14