Mutagenetix > Incidental Mutation

Incidental Mutation 'R7371:Col24a1'

572065

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 #

R7371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145292472-145552011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145343698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 629 (N629S)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

probably benign
Transcript: ENSMUST00000029848
AA Change: N629S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: N629S

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (88/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,193,481	S475T	unknown	Het
Adam21	A	C	12: 81,560,290	S233A	probably damaging	Het
Adcy8	T	A	15: 64,699,218	H1222L	probably benign	Het
Aftph	T	C	11: 20,726,836	T258A	probably benign	Het
Ano3	A	C	2: 110,884,849		probably null	Het
Aox4	A	G	1: 58,263,854	D1148G	probably damaging	Het
Bcl11b	A	T	12: 107,989,491	I133N	probably damaging	Het
Borcs7	T	A	19: 46,699,618	D67E	probably damaging	Het
Cacna2d4	T	A	6: 119,308,709	I774N	probably benign	Het
Catsperd	A	T	17: 56,650,801	Y236F	probably benign	Het
Cblc	T	C	7: 19,792,903	S135G	probably benign	Het
Ccdc178	A	G	18: 22,130,138	V138A	probably benign	Het
Cd300ld	C	T	11: 114,987,360	G109R	probably damaging	Het
Cdh3	T	A	8: 106,552,477	N690K	probably damaging	Het
Ceacam1	T	A	7: 25,474,720	Y170F	possibly damaging	Het
Ceacam9	A	C	7: 16,723,727	H55P	possibly damaging	Het
Celsr1	C	T	15: 86,030,674	V1033I	possibly damaging	Het
Cep97	T	C	16: 55,905,320	S807G	probably benign	Het
Ces1b	A	G	8: 93,057,354		probably null	Het
Chn1	T	C	2: 73,679,890	T92A	probably damaging	Het
Cngb3	A	C	4: 19,425,575	Y461S	possibly damaging	Het
Cpd	T	C	11: 76,846,611	D119G	probably benign	Het
Cpsf1	T	C	15: 76,600,575	D594G	probably damaging	Het
Cpsf7	C	T	19: 10,531,839	A38V	probably benign	Het
Cry1	A	T	10: 85,147,919	H224Q	probably benign	Het
Ctr9	T	A	7: 111,033,807	D87E	probably damaging	Het
Cyp2u1	T	A	3: 131,293,495	N479I	probably benign	Het
D10Wsu102e	T	C	10: 83,365,816	V151A	probably benign	Het
Dip2c	A	G	13: 9,592,749	N672D	probably benign	Het
Dnah14	T	C	1: 181,626,885	V820A	probably benign	Het
Efnb2	T	C	8: 8,660,524	I31V	probably benign	Het
Fgb	T	C	3: 83,046,052	Y137C	probably damaging	Het
Fkbp15	A	G	4: 62,321,056	V604A	possibly damaging	Het
Flii	A	T	11: 60,718,264	N682K	probably benign	Het
Fmo3	A	G	1: 162,954,227	L519P	possibly damaging	Het
Gapvd1	T	A	2: 34,717,373	M538L	probably benign	Het
Gbp11	A	G	5: 105,342,105	V69A	probably benign	Het
Ggn	T	A	7: 29,172,180	D364E	probably benign	Het
Gm10377	G	A	14: 42,792,896	P171S	probably benign	Het
Gm8251	C	A	1: 44,061,377	R187L	probably benign	Het
Gramd4	C	T	15: 86,135,406	A625V	probably benign	Het
Il2ra	T	A	2: 11,643,020	M7K	probably benign	Het
Iqgap2	A	T	13: 95,700,338		probably null	Het
Itgb4	T	C	11: 115,998,080	V1083A	probably benign	Het
Kcnma1	G	A	14: 23,494,570	A573V	possibly damaging	Het
Kirrel	T	C	3: 87,088,422	T402A	probably benign	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Krt4	T	A	15: 101,920,388	Q347L	probably damaging	Het
Map3k21	T	A	8: 125,935,065	I467N	probably damaging	Het
Mastl	A	T	2: 23,140,573	S195T	probably damaging	Het
Mis18bp1	G	T	12: 65,158,594	T268K	probably benign	Het
Mmp17	G	A	5: 129,605,772	G492S	probably null	Het
Myc	T	A	15: 61,988,182	S236T	probably damaging	Het
Nlrp5	A	T	7: 23,418,423	E524V	probably damaging	Het
Npr3	T	A	15: 11,845,290		probably null	Het
Odf3b	C	A	15: 89,379,162	W6L	probably damaging	Het
Olfr446	T	A	6: 42,927,535	Y101*	probably null	Het
Olfr683	A	G	7: 105,143,879	I138T	possibly damaging	Het
Olfr724	A	T	14: 49,961,106		probably null	Het
Oog4	T	C	4: 143,438,776	N267S	possibly damaging	Het
Pde4dip	T	C	3: 97,757,271	E425G	probably benign	Het
Piwil4	A	C	9: 14,727,433	N312K	probably benign	Het
Pmepa1	A	G	2: 173,234,419	M47T	possibly damaging	Het
Prkcg	G	A	7: 3,319,553	G372D	probably benign	Het
Prune2	A	G	19: 17,119,370	H746R	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,529,539		probably benign	Het
Rab3gap2	C	G	1: 185,251,068	A468G	probably damaging	Het
Ralb	A	G	1: 119,472,399	L123P		Het
Ralgapa2	G	A	2: 146,347,126	T1288I	probably benign	Het
Samd4b	C	A	7: 28,423,501	C44F	probably benign	Het
Satb1	C	A	17: 51,782,980	E280*	probably null	Het
Sec1	T	C	7: 45,678,610	T338A	probably damaging	Het
Sec16a	T	C	2: 26,441,722	T94A	probably benign	Het
Serpina1f	G	A	12: 103,689,827	R381W	probably damaging	Het
Sfswap	A	T	5: 129,543,241	T525S	probably benign	Het
Skor1	T	C	9: 63,146,887		probably null	Het
Spc24	A	G	9: 21,757,368	L111P	probably damaging	Het
St8sia2	T	C	7: 73,966,927	D121G	probably damaging	Het
Tanc2	A	G	11: 105,798,596	T195A	probably benign	Het
Tbc1d9	T	A	8: 83,271,261	I1149N	probably damaging	Het
Tph2	A	T	10: 115,151,111	L258Q	probably damaging	Het
Trpm3	A	T	19: 22,902,193	M781L	probably benign	Het
Ubap2	G	T	4: 41,195,779	P1005T	probably benign	Het
Upf2	A	G	2: 5,961,040	E157G	unknown	Het
Urb2	C	A	8: 124,028,269	D238E	probably benign	Het
Vipr1	T	C	9: 121,668,555	S380P	probably damaging	Het
Zc3h18	T	A	8: 122,413,021	S734T	unknown	Het
Zmym6	T	A	4: 127,104,313	Y381N	probably damaging	Het
Zscan4e	T	C	7: 11,307,324	K207R	probably benign	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
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'- CATAATGCCTTTTGGGTTCTGAAGTTC -3'
(R):5'- TAGACACAGCCTTGATGGGAC -3'

Sequencing Primer
(F):5'- TGGGTTCTGAAGTTCCAAAAATC -3'
(R):5'- CTCCTGTGCACCAAGGGAAAATG -3'

Posted On

2019-09-13