Mutagenetix > Incidental Mutation

Incidental Mutation 'R1713:Col24a1'

190751

Institutional Source

Beutler Lab

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

MMRRC Submission

039746-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

145292472-145552011 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 145366869 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 780 (Q780*)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

probably null
Transcript: ENSMUST00000029848
AA Change: Q780*

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: Q780*

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

Meta Mutation Damage Score

0.9667

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (96/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,270,767	I54F	possibly damaging	Het
Ackr1	A	T	1: 173,332,349	H134Q	probably benign	Het
Agtr1b	A	T	3: 20,316,309	F44L	probably benign	Het
Ahnak	G	A	19: 9,011,809	D3486N	possibly damaging	Het
Akap9	T	C	5: 4,039,345		probably null	Het
Anks6	T	A	4: 47,039,726	Q495L	probably benign	Het
Arpp21	A	G	9: 112,067,169	S684P	probably damaging	Het
Ash1l	A	G	3: 89,076,224	E2911G	probably damaging	Het
Avpi1	C	T	19: 42,124,809	E70K	probably damaging	Het
Btbd17	G	T	11: 114,795,824	P9T	probably benign	Het
C4b	A	G	17: 34,729,271		probably benign	Het
Carm1	T	C	9: 21,586,489	V385A	probably damaging	Het
Casd1	A	G	6: 4,624,104	D299G	probably damaging	Het
Clca1	T	A	3: 145,024,546	K179N	probably benign	Het
Col1a2	T	C	6: 4,538,691	S1204P	unknown	Het
Cxadr	C	A	16: 78,334,245	N216K	probably damaging	Het
Daam1	C	T	12: 71,895,882	T40I	unknown	Het
Dab2	C	T	15: 6,429,701	P365S	possibly damaging	Het
Dnah1	A	T	14: 31,279,182	I2402N	probably damaging	Het
Dscaml1	T	A	9: 45,752,690	S1954R	possibly damaging	Het
Dync2h1	T	C	9: 7,131,891	T1639A	probably benign	Het
Ebf1	A	T	11: 44,924,566	I336F	probably damaging	Het
Ebna1bp2	A	G	4: 118,625,684	N290S	possibly damaging	Het
Gabra2	A	G	5: 71,014,563	I110T	probably benign	Het
Galk2	A	G	2: 125,931,290	N203S	probably benign	Het
Gria4	T	C	9: 4,424,448	T806A	probably benign	Het
Impg2	A	G	16: 56,260,526	T789A	probably benign	Het
Itga6	A	G	2: 71,787,202	T22A	probably benign	Het
Itgb4	T	A	11: 116,003,489	I1312N	probably damaging	Het
Kdm4c	A	G	4: 74,298,484	D160G	probably benign	Het
Kdr	A	G	5: 75,968,467	V173A	probably benign	Het
Kif14	T	C	1: 136,527,464	S1575P	probably benign	Het
Lcp1	G	A	14: 75,199,444		probably null	Het
Lipe	C	A	7: 25,385,325	S516I	probably damaging	Het
Lrrc61	G	A	6: 48,568,774	R177Q	possibly damaging	Het
Macf1	A	G	4: 123,378,694	I6429T	probably damaging	Het
Map3k4	C	T	17: 12,249,571	E1012K	probably benign	Het
Map3k5	T	C	10: 20,110,847	F936L	possibly damaging	Het
Mllt3	A	T	4: 87,783,664	N497K	probably damaging	Het
Moxd1	G	A	10: 24,281,496	G342D	probably damaging	Het
Mtdh	A	C	15: 34,114,839	Q202H	possibly damaging	Het
Nav1	A	G	1: 135,595,234		probably benign	Het
Nop56	T	C	2: 130,277,966	V109A	possibly damaging	Het
Obscn	T	C	11: 59,079,886	D2540G	probably damaging	Het
Olfr1121	A	T	2: 87,371,946	Y138F	probably damaging	Het
Olfr1495	A	T	19: 13,769,295	T318S	probably benign	Het
Omg	T	C	11: 79,502,853	I60V	probably benign	Het
Osbpl5	G	A	7: 143,694,373	H652Y	probably damaging	Het
Papd7	A	T	13: 69,503,051	I565N	probably benign	Het
Parvb	T	C	15: 84,297,991		probably benign	Het
Pcdhb3	A	C	18: 37,303,322	E780D	probably benign	Het
Pik3c3	A	G	18: 30,323,586	D723G	possibly damaging	Het
Prkdc	T	C	16: 15,795,094	V3172A	probably benign	Het
Psme4	G	T	11: 30,806,310	W272L	probably damaging	Het
Rem1	G	A	2: 152,634,535	V238M	probably damaging	Het
Rhobtb1	A	C	10: 69,272,771	S434R	probably benign	Het
Rhobtb1	G	C	10: 69,272,772	S434T	possibly damaging	Het
Rnf8	T	C	17: 29,634,761	F413S	probably damaging	Het
Rpn2	A	G	2: 157,314,968	N497S	probably damaging	Het
Rsbn1l	G	T	5: 20,951,490	P99Q	probably benign	Het
Serpinb3b	A	T	1: 107,155,434	M246K	probably benign	Het
Sgsm2	T	C	11: 74,896,826	E19G	probably null	Het
Shank1	A	G	7: 44,319,737	H352R	unknown	Het
Slc17a7	A	G	7: 45,170,304	I177V	probably benign	Het
Slc28a2	T	A	2: 122,451,013	F228I	probably damaging	Het
Slc35b4	C	T	6: 34,170,549	V35I	probably benign	Het
Slc38a1	T	C	15: 96,578,760	I407V	probably damaging	Het
Slc39a13	A	G	2: 91,063,097	V326A	probably damaging	Het
Slc44a5	T	C	3: 154,239,106	L120P	probably damaging	Het
Slfn3	T	C	11: 83,213,314	I214T	probably damaging	Het
Slitrk3	A	C	3: 73,049,691	S583A	probably benign	Het
Snx14	T	C	9: 88,415,675	Y180C	probably damaging	Het
Sorl1	T	A	9: 41,996,242	K1483I	probably benign	Het
Ssrp1	C	A	2: 85,040,760	H247N	probably damaging	Het
Stk39	A	T	2: 68,307,116		probably benign	Het
Syde1	C	T	10: 78,585,696	G674R	probably damaging	Het
Themis3	G	A	17: 66,555,853	S370L	probably benign	Het
Tll1	T	A	8: 64,101,873	N259Y	probably damaging	Het
Tnip2	T	G	5: 34,503,831		probably benign	Het
Top2b	T	C	14: 16,409,823	V830A	probably benign	Het
Trpm8	T	A	1: 88,365,080	N934K	probably damaging	Het
Ttc14	A	G	3: 33,802,920	Y179C	probably damaging	Het
Ttn	T	G	2: 76,743,621	I17316L	possibly damaging	Het
Tufm	T	C	7: 126,487,699	V52A	probably benign	Het
Vamp8	T	A	6: 72,388,287	N20I	probably benign	Het
Vmn1r170	A	T	7: 23,606,863	H230L	probably benign	Het
Vmn2r50	T	G	7: 10,037,804	T657P	probably damaging	Het
Xirp2	G	A	2: 67,512,418	G1668R	probably benign	Het
Zik1	C	A	7: 10,490,384	R262L	possibly damaging	Het
Zscan25	T	G	5: 145,283,691	Y99D	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
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'- GCCAGAAAAGGTTGCTGATGCTCTC -3'
(R):5'- ACCCTCTGTAAGGGTCACAGTCAC -3'

Sequencing Primer
(F):5'- GGAGGACTCTGAAGACCTTTAC -3'
(R):5'- AGCTTGAAAATGTTCTGGCCC -3'

Posted On

2014-05-14