Mutagenetix > Incidental Mutation

Incidental Mutation 'R6861:Col24a1'

535505

Institutional Source

Beutler Lab

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

MMRRC Submission

044962-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145292472-145552011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 145460834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 1075 (G1075S)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

probably damaging
Transcript: ENSMUST00000029848
AA Change: G1075S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: G1075S

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: 99.9%
10x: 99.6%
20x: 98.6%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	A	G	7: 118,743,675	H32R	probably damaging	Het
Adamtsl4	G	A	3: 95,680,884	R598C	probably damaging	Het
Adra2a	T	C	19: 54,046,387	L58P	probably damaging	Het
Alox5ap	A	G	5: 149,265,117	D2G	probably damaging	Het
Arid1b	G	A	17: 5,327,686	V1238M	possibly damaging	Het
Bank1	A	G	3: 136,255,003	V31A	probably benign	Het
Bptf	G	A	11: 107,062,565	T2117M	probably damaging	Het
Cadps	G	A	14: 12,522,401	R588*	probably null	Het
Cavin4	A	G	4: 48,672,214	I220V	probably benign	Het
Cep192	G	A	18: 67,841,628	M1267I	probably benign	Het
Cers5	G	A	15: 99,772,363		probably benign	Het
Cfap65	A	T	1: 74,925,115	I558N	probably damaging	Het
Cfh	A	T	1: 140,100,883	S1025T	probably benign	Het
Cftr	A	G	6: 18,268,108	I689V	probably benign	Het
Cgrrf1	T	C	14: 46,832,328	I18T	probably damaging	Het
CK137956	A	G	4: 127,970,726	S37P	probably damaging	Het
Clca4a	T	C	3: 144,970,655	D88G	probably benign	Het
Col11a1	G	A	3: 114,167,492	G1166D	probably damaging	Het
Crispld2	C	T	8: 120,026,113	T299M	probably damaging	Het
Cyb561a3	T	A	19: 10,585,337	Y114N	probably damaging	Het
Cyp3a57	T	A	5: 145,370,963	W147R	possibly damaging	Het
Dnah2	C	A	11: 69,455,963	R2599L	possibly damaging	Het
Dock1	T	A	7: 134,771,478	S525T	probably benign	Het
Drc7	T	G	8: 95,062,397		probably null	Het
Efhd2	G	T	4: 141,859,881		probably null	Het
Epb41l1	A	T	2: 156,525,222	E658D	probably benign	Het
Evi5	C	T	5: 107,748,318	S753N	probably benign	Het
Exoc3	A	T	13: 74,189,200	D427E	probably benign	Het
Fbxw9	A	G	8: 85,066,111	D363G	probably damaging	Het
Fcer2a	T	C	8: 3,682,910	Y277C	probably damaging	Het
Fstl5	A	T	3: 76,322,216	Y108F	probably damaging	Het
Gcn1l1	A	G	5: 115,611,049	D1880G	probably benign	Het
Gm4924	T	A	10: 82,379,114	Y915*	probably null	Het
Gm996	C	CTCTA	2: 25,579,721		probably null	Het
Gpr139	T	A	7: 119,144,652	I237F	probably benign	Het
Hao2	A	G	3: 98,877,182	L289S	probably damaging	Het
Hexim1	A	G	11: 103,116,967	S16G	probably benign	Het
Hmgcs1	T	A	13: 119,699,999	M109K	probably damaging	Het
Hs3st4	T	A	7: 124,396,829	N239K	possibly damaging	Het
Hsd3b5	T	A	3: 98,622,012	N101Y	probably damaging	Het
Idh2	G	A	7: 80,098,218	P245S	probably damaging	Het
Irx3	A	G	8: 91,798,902		probably benign	Het
Lilra5	A	T	7: 4,241,932	D234V	probably benign	Het
Lrfn5	G	A	12: 61,839,690	S88N	probably damaging	Het
Lrp2	A	T	2: 69,513,377	S879R	possibly damaging	Het
Lsm11	A	G	11: 45,933,954	S249P	probably benign	Het
Ltbp1	C	T	17: 75,227,192	A543V	possibly damaging	Het
Mbd1	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,574			Het
Mier2	C	T	10: 79,541,156		probably benign	Het
Mup6	G	C	4: 60,004,093	G70A	probably benign	Het
Neb	A	G	2: 52,195,720	L5258P	probably damaging	Het
Nlrc5	G	A	8: 94,521,229		probably benign	Het
Nr6a1	A	T	2: 38,740,585	F207I	possibly damaging	Het
Olfr1385	A	T	11: 49,494,805	T91S	probably benign	Het
Olfr181	A	T	16: 58,926,504	D22E	probably benign	Het
Olfr902	T	C	9: 38,449,435	C188R	probably damaging	Het
Osbp2	A	G	11: 3,715,191	V51A	possibly damaging	Het
Papln	G	T	12: 83,774,949	C317F	probably damaging	Het
Pdcd7	T	C	9: 65,358,622	S454P	probably damaging	Het
Pde4a	C	T	9: 21,205,301	T473I	probably damaging	Het
Peg10	CC	CCCCATCAGGC	6: 4,756,350		probably benign	Het
Peg10	C	CCCATCAGGA	6: 4,756,351		probably benign	Het
Peg3	G	T	7: 6,711,386	S279*	probably null	Het
Rbl1	A	G	2: 157,152,967	Y929H	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,579,909		probably benign	Het
Sall3	C	A	18: 80,974,375	E113*	probably null	Het
Scn5a	A	C	9: 119,530,023	F653V	probably damaging	Het
Selenok	T	A	14: 29,970,048	N14K	possibly damaging	Het
Slc22a20	T	C	19: 5,971,810	T426A	probably benign	Het
Slc4a2	T	A	5: 24,435,009	S563T	probably damaging	Het
Sspo	T	A	6: 48,487,955	S3798T	probably benign	Het
Stag3	G	T	5: 138,304,707	R63L	possibly damaging	Het
Stard9	A	T	2: 120,705,186	M3975L	probably benign	Het
Syne2	C	A	12: 75,909,266	T582K	probably damaging	Het
Synj1	G	A	16: 90,963,880	Q748*	probably null	Het
Tas2r109	T	C	6: 132,980,085	D294G	probably benign	Het
Tbl1xr1	C	T	3: 22,191,439	T203M	possibly damaging	Het
Tbl1xr1	T	A	3: 22,191,539		probably null	Het
Tcf7l2	A	G	19: 55,742,523	D19G	probably damaging	Het
Tecta	A	G	9: 42,337,337	V1923A	possibly damaging	Het
Tg	T	A	15: 66,688,891	M1034K	probably benign	Het
Ttf2	T	C	3: 100,969,625	E8G	possibly damaging	Het
Vps13b	T	A	15: 35,576,395	V983E	probably damaging	Het
Vwa2	T	C	19: 56,901,593	V210A	probably benign	Het
Xkr6	T	A	14: 63,819,644	Y335N	probably benign	Het
Zfp97	A	G	17: 17,145,175	H312R	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
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'- CCAGAGCTCTTCCAGGAAAC -3'
(R):5'- AGTTTGAAGCTAGCCTAGGATAC -3'

Sequencing Primer
(F):5'- CTTCCAGGAAACTTCAATCACGTGTG -3'
(R):5'- GCTAGCCTAGGATACAAGATATCATC -3'

Posted On

2018-09-12