Mutagenetix > Incidental Mutation

Incidental Mutation 'R1969:Col24a1'

219412

Institutional Source

Beutler Lab

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

MMRRC Submission

039982-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145292472-145552011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145314930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 354 (I354T)

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: I354T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: I354T

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,598,245		probably benign	Het
1700014D04Rik	T	C	13: 59,742,785	D407G	probably damaging	Het
9930021J03Rik	C	T	19: 29,716,675	S1873N	possibly damaging	Het
Apoh	G	A	11: 108,407,462	R196Q	probably benign	Het
Arnt	C	T	3: 95,448,393	S16L	possibly damaging	Het
B4galnt4	T	C	7: 141,064,848	F194L	probably benign	Het
BC034090	A	T	1: 155,225,226	L431M	possibly damaging	Het
Bdh2	G	T	3: 135,288,279	A31S	probably damaging	Het
Cacna1s	T	C	1: 136,119,095	S1821P	probably benign	Het
Caskin1	A	T	17: 24,506,850	Q1370L	possibly damaging	Het
Ccdc83	T	A	7: 90,244,154	S132C	probably damaging	Het
Cdk15	A	T	1: 59,330,951	H384L	probably damaging	Het
Coro7	T	C	16: 4,633,756	I451V	probably benign	Het
Ctnna2	T	C	6: 77,758,500	E65G	probably damaging	Het
Ctsll3	A	T	13: 60,800,348	W172R	probably benign	Het
D230025D16Rik	T	A	8: 105,246,500	D247E	possibly damaging	Het
D630045J12Rik	T	C	6: 38,168,143	D1316G	probably damaging	Het
Ddx19b	C	T	8: 111,008,258	A493T	probably benign	Het
Ddx4	C	T	13: 112,600,013	V608I	probably damaging	Het
Ddx4	T	A	13: 112,620,742	H348L	probably damaging	Het
Dnah17	G	C	11: 118,104,535	Q996E	probably benign	Het
Dnah9	G	C	11: 65,848,371	N4180K	probably damaging	Het
Dok7	A	G	5: 35,077,266		probably null	Het
Dpf3	T	A	12: 83,325,035		probably null	Het
Elfn1	G	C	5: 139,972,849	R536P	probably damaging	Het
Eml6	A	G	11: 29,833,075	V602A	probably benign	Het
Enpp2	T	C	15: 54,882,982	D296G	probably damaging	Het
Evi5	A	T	5: 107,748,364	F738I	probably benign	Het
Eya2	T	C	2: 165,716,119	S212P	probably benign	Het
Fam83a	T	C	15: 57,986,102	L14P	probably damaging	Het
Fanca	A	T	8: 123,288,064	M735K	probably benign	Het
Fancm	T	A	12: 65,101,692	S694T	probably benign	Het
Fibcd1	G	A	2: 31,816,661	T386I	probably damaging	Het
Foxd4	A	G	19: 24,899,814	S341P	probably benign	Het
Foxp4	C	T	17: 47,875,871	R378Q	unknown	Het
Fryl	A	T	5: 73,098,266	S807R	probably benign	Het
Fscb	T	C	12: 64,473,234	E486G	unknown	Het
Galnt17	A	G	5: 131,150,944	S122P	probably benign	Het
Ghitm	A	G	14: 37,131,629	F85L	probably benign	Het
Ghrh	C	A	2: 157,333,466	V32L	probably benign	Het
Gli2	C	T	1: 118,837,700	R907H	probably benign	Het
Gm11639	A	G	11: 104,746,264	I988M	probably damaging	Het
Gm28042	A	G	2: 120,041,615	*1015W	probably null	Het
Gpr179	T	C	11: 97,337,958	T1124A	probably benign	Het
Grid2	C	A	6: 63,908,918	C99*	probably null	Het
Grin1	A	T	2: 25,297,915	M523K	probably benign	Het
Gucy2g	T	C	19: 55,222,896	Y634C	possibly damaging	Het
Gucy2g	T	G	19: 55,233,053	T339P	probably benign	Het
Haus6	A	T	4: 86,604,246	L116H	probably damaging	Het
Hey1	T	C	3: 8,666,819	T18A	probably benign	Het
Hipk3	T	C	2: 104,433,841	N792D	probably damaging	Het
Il19	A	T	1: 130,939,156	L29Q	probably damaging	Het
Il21r	A	G	7: 125,628,972	Q205R	probably damaging	Het
Kcnip2	T	C	19: 45,793,683	D169G	probably null	Het
Kctd18	T	C	1: 57,967,620	I24V	probably benign	Het
Lcp1	T	C	14: 75,200,506	S119P	probably damaging	Het
Lig3	G	C	11: 82,795,718	D642H	probably benign	Het
Lrba	A	G	3: 86,608,389	K2166E	probably damaging	Het
Lrrn2	T	C	1: 132,939,234	V679A	probably benign	Het
Lyst	G	A	13: 13,730,344	R3202H	probably damaging	Het
Micall2	A	G	5: 139,736,130	C11R	probably damaging	Het
Morc2b	T	G	17: 33,137,091	Q569P	probably benign	Het
Mtrf1	A	G	14: 79,401,671	E81G	probably damaging	Het
Myh2	G	T	11: 67,189,178	S1099I	possibly damaging	Het
Nap1l1	T	A	10: 111,491,053	D158E	probably benign	Het
Nckap5l	T	A	15: 99,422,818	T1285S	probably damaging	Het
Nsrp1	A	T	11: 77,045,786	M528K	probably damaging	Het
Numa1	C	T	7: 102,009,322	A1605V	probably damaging	Het
Nutm2	T	C	13: 50,473,842	L453P	probably damaging	Het
Ofd1	T	C	X: 166,427,214	Y205C	probably benign	Het
Olfr1233	T	A	2: 89,340,296	N2I	probably damaging	Het
Olfr135	A	G	17: 38,208,464	Y73C	probably damaging	Het
Olfr19	T	A	16: 16,673,583	M133L	probably benign	Het
Olfr552	A	T	7: 102,604,570	D72V	probably damaging	Het
Olfr693	T	A	7: 106,677,670	N272I	probably damaging	Het
Patl1	T	C	19: 11,921,418	L159P	probably benign	Het
Paxip1	G	A	5: 27,744,136	T1045I	probably damaging	Het
Pik3ca	A	G	3: 32,451,754		probably null	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Plec	C	T	15: 76,189,172	R319H	probably damaging	Het
Pnkd	G	A	1: 74,351,849	G334D	probably damaging	Het
Prss50	A	G	9: 110,862,381	Y251C	probably damaging	Het
Rab11b	A	T	17: 33,760,235	Y10N	probably damaging	Het
Rfc1	G	A	5: 65,319,524	R4W	probably damaging	Het
Rgs19	A	T	2: 181,689,483	F119Y	probably damaging	Het
Safb	A	G	17: 56,605,821	H883R	probably benign	Het
Serpine1	G	A	5: 137,067,747	Q227*	probably null	Het
Slc25a13	A	G	6: 6,096,668		probably null	Het
Slc6a18	T	A	13: 73,664,189	T502S	possibly damaging	Het
Sox4	T	C	13: 28,952,648	D125G	probably damaging	Het
Stag3	C	T	5: 138,300,138	T731I	probably damaging	Het
Thada	G	T	17: 84,310,042	P1349T	probably damaging	Het
Tmem245	C	A	4: 56,937,964	V195F	probably benign	Het
Tnxb	A	G	17: 34,679,081	H901R	probably benign	Het
Trim39	A	T	17: 36,268,753	D103E	probably benign	Het
Ttn	A	T	2: 76,731,960	V28847E	probably damaging	Het
Tubb1	A	T	2: 174,455,691	D31V	possibly damaging	Het
Ush1g	A	G	11: 115,318,454	S305P	probably damaging	Het
Vmn1r191	A	T	13: 22,178,782	N267K	possibly damaging	Het
Vmn1r59	A	T	7: 5,454,039	Y241N	probably damaging	Het
Vmn2r49	T	C	7: 9,986,308	N419D	probably damaging	Het
Vps35	T	C	8: 85,278,994	D326G	possibly damaging	Het
Xdh	A	G	17: 73,892,751	S1187P	possibly damaging	Het
Xpc	A	C	6: 91,501,025		probably null	Het
Zfp273	T	C	13: 67,825,163	Y104H	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
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'- ATTCACAGAGCAGGATTCCTTGC -3'
(R):5'- GTGTGCAAAGCCGGATGATG -3'

Sequencing Primer
(F):5'- GCAGGATTCCTTGCCAAAAG -3'
(R):5'- AAGCCGGATGATGCTTTCTTAG -3'

Posted On

2014-08-25