Mutagenetix > Incidental Mutation

Incidental Mutation 'R4086:Col24a1'

317355

Institutional Source

Beutler Lab

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

MMRRC Submission

041625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144998233-145257766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 145167192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 1090 (G1090R)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

probably damaging
Transcript: ENSMUST00000029848
AA Change: G1090R

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

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: G1090R

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

0.9163

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (58/58)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd7	G	A	2: 3,341,488 (GRCm39)		probably null	Het
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Adcy7	A	G	8: 89,042,414 (GRCm39)	D427G	probably benign	Het
Adrm1	A	G	2: 179,814,627 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,233,984 (GRCm39)	I1103M	probably benign	Het
Arhgap32	A	C	9: 32,158,362 (GRCm39)		probably benign	Het
Arhgef28	T	C	13: 98,103,712 (GRCm39)	R767G	probably damaging	Het
BC046251	A	G	7: 65,231,896 (GRCm39)		noncoding transcript	Het
Brwd1	T	C	16: 95,847,572 (GRCm39)	S683G	probably benign	Het
Calcoco1	C	G	15: 102,618,834 (GRCm39)		probably benign	Het
Carmil1	G	T	13: 24,208,444 (GRCm39)	P834T	possibly damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Csmd1	T	A	8: 16,042,738 (GRCm39)	I2332F	probably damaging	Het
Ets2	C	A	16: 95,510,833 (GRCm39)	D30E	probably damaging	Het
Fam181b	T	C	7: 92,729,788 (GRCm39)	V187A	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxo41	C	T	6: 85,455,528 (GRCm39)	R552Q	possibly damaging	Het
Fstl5	G	T	3: 76,555,593 (GRCm39)	C53F	probably damaging	Het
Ftsj3	T	C	11: 106,140,395 (GRCm39)	Y791C	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	A	G	5: 110,091,121 (GRCm39)	K458E	probably benign	Het
Hecw2	T	C	1: 53,870,815 (GRCm39)	I1389V	probably damaging	Het
Ipo9	A	G	1: 135,316,428 (GRCm39)		probably benign	Het
Krtap31-1	C	T	11: 99,799,145 (GRCm39)	T116I	possibly damaging	Het
Mafa	T	G	15: 75,618,986 (GRCm39)	K262N	probably damaging	Het
Nxph4	T	C	10: 127,362,555 (GRCm39)	Y112C	probably damaging	Het
Or5ak4	C	A	2: 85,162,170 (GRCm39)	W24L	probably benign	Het
Or6c70	A	G	10: 129,710,167 (GRCm39)	V153A	possibly damaging	Het
Pgls	G	A	8: 72,048,734 (GRCm39)	A142T	probably damaging	Het
Phlpp1	A	G	1: 106,274,891 (GRCm39)	I885V	probably benign	Het
Prkcq	A	G	2: 11,288,679 (GRCm39)	D544G	probably damaging	Het
Rnf44	T	C	13: 54,830,148 (GRCm39)	N254D	possibly damaging	Het
Septin10	A	T	10: 59,028,045 (GRCm39)	L92*	probably null	Het
Slc14a2	A	T	18: 78,248,998 (GRCm39)	I156N	probably damaging	Het
Sos1	A	G	17: 80,756,781 (GRCm39)	V257A	probably benign	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Thap12	A	G	7: 98,365,701 (GRCm39)	D623G	possibly damaging	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709 (GRCm39)	T110S	probably benign	Het
Trim30d	T	C	7: 104,137,007 (GRCm39)	N66D	probably damaging	Het
Trim65	G	A	11: 116,017,305 (GRCm39)	Q386*	probably null	Het
Ube2u	T	A	4: 100,407,039 (GRCm39)	I187N	probably benign	Het
Vmn1r90	G	A	7: 14,297,219 (GRCm39)		probably benign	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Xpo4	C	T	14: 57,880,490 (GRCm39)		probably benign	Het
Zbtb21	A	T	16: 97,753,963 (GRCm39)	Y135N	probably damaging	Het
Zbtb22	T	A	17: 34,137,142 (GRCm39)	V429D	probably damaging	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zhx1	T	C	15: 57,916,317 (GRCm39)	E643G	possibly damaging	Het
Zzef1	C	T	11: 72,765,879 (GRCm39)	H1469Y	probably benign	Het

Other mutations in Col24a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Col24a1	APN	3	145,068,064 (GRCm39)	missense	probably damaging	1.00
IGL00931:Col24a1	APN	3	145,167,225 (GRCm39)	missense	probably benign	0.00
IGL01160:Col24a1	APN	3	145,213,468 (GRCm39)	missense	probably damaging	1.00
IGL01355:Col24a1	APN	3	145,020,637 (GRCm39)	missense	probably benign	0.07
IGL01409:Col24a1	APN	3	145,244,319 (GRCm39)	missense	probably benign	0.19
IGL01587:Col24a1	APN	3	145,139,110 (GRCm39)	splice site	probably null
IGL01666:Col24a1	APN	3	145,050,447 (GRCm39)	missense	possibly damaging	0.93
IGL01717:Col24a1	APN	3	145,230,018 (GRCm39)	splice site	probably benign
IGL01721:Col24a1	APN	3	145,244,322 (GRCm39)	missense	probably benign	0.26
IGL01939:Col24a1	APN	3	145,021,005 (GRCm39)	missense	probably damaging	1.00
IGL01988:Col24a1	APN	3	145,229,922 (GRCm39)	splice site	probably null
IGL02002:Col24a1	APN	3	145,062,699 (GRCm39)	missense	possibly damaging	0.81
IGL02172:Col24a1	APN	3	145,020,723 (GRCm39)	missense	probably benign	0.34
IGL02552:Col24a1	APN	3	145,179,962 (GRCm39)	missense	possibly damaging	0.88
IGL02559:Col24a1	APN	3	145,019,934 (GRCm39)	missense	probably benign
IGL02582:Col24a1	APN	3	145,020,247 (GRCm39)	missense	probably damaging	1.00
IGL02652:Col24a1	APN	3	145,198,056 (GRCm39)	nonsense	probably null
IGL02942:Col24a1	APN	3	145,247,420 (GRCm39)	missense	probably damaging	1.00
IGL03032:Col24a1	APN	3	145,244,458 (GRCm39)	critical splice donor site	probably null
IGL03108:Col24a1	APN	3	145,029,162 (GRCm39)	missense	probably damaging	1.00
IGL03310:Col24a1	APN	3	145,019,744 (GRCm39)	splice site	probably benign
IGL03405:Col24a1	APN	3	145,020,918 (GRCm39)	missense	possibly damaging	0.73
R0066:Col24a1	UTSW	3	145,250,899 (GRCm39)	missense	probably damaging	1.00
R0066:Col24a1	UTSW	3	145,250,899 (GRCm39)	missense	probably damaging	1.00
R0379:Col24a1	UTSW	3	145,229,897 (GRCm39)	missense	possibly damaging	0.94
R0502:Col24a1	UTSW	3	145,251,071 (GRCm39)	splice site	probably benign
R0556:Col24a1	UTSW	3	145,020,489 (GRCm39)	missense	possibly damaging	0.53
R0587:Col24a1	UTSW	3	144,998,906 (GRCm39)	missense	possibly damaging	0.50
R0617:Col24a1	UTSW	3	145,019,881 (GRCm39)	missense	probably damaging	1.00
R0831:Col24a1	UTSW	3	145,034,520 (GRCm39)	missense	probably damaging	1.00
R1455:Col24a1	UTSW	3	145,166,593 (GRCm39)	missense	probably damaging	1.00
R1664:Col24a1	UTSW	3	145,095,355 (GRCm39)	critical splice donor site	probably null
R1713:Col24a1	UTSW	3	145,072,624 (GRCm39)	nonsense	probably null
R1854:Col24a1	UTSW	3	145,164,895 (GRCm39)	missense	probably damaging	1.00
R1855:Col24a1	UTSW	3	145,164,895 (GRCm39)	missense	probably damaging	1.00
R1861:Col24a1	UTSW	3	145,243,022 (GRCm39)	critical splice donor site	probably null
R1969:Col24a1	UTSW	3	145,020,691 (GRCm39)	missense	probably benign	0.03
R2216:Col24a1	UTSW	3	145,020,742 (GRCm39)	missense	probably benign	0.34
R2290:Col24a1	UTSW	3	145,218,950 (GRCm39)	missense	probably damaging	1.00
R3702:Col24a1	UTSW	3	145,043,621 (GRCm39)	missense	probably benign	0.01
R3772:Col24a1	UTSW	3	145,251,041 (GRCm39)	missense	probably damaging	1.00
R4236:Col24a1	UTSW	3	145,230,037 (GRCm39)	nonsense	probably null
R4433:Col24a1	UTSW	3	145,020,144 (GRCm39)	missense	possibly damaging	0.95
R4688:Col24a1	UTSW	3	145,020,144 (GRCm39)	missense	probably benign	0.00
R4972:Col24a1	UTSW	3	145,215,439 (GRCm39)	missense	probably benign	0.42
R5157:Col24a1	UTSW	3	145,051,712 (GRCm39)	nonsense	probably null
R5216:Col24a1	UTSW	3	145,021,071 (GRCm39)	missense	possibly damaging	0.85
R5274:Col24a1	UTSW	3	145,190,433 (GRCm39)	missense	probably benign	0.03
R5334:Col24a1	UTSW	3	145,167,280 (GRCm39)	missense	possibly damaging	0.91
R5416:Col24a1	UTSW	3	145,020,786 (GRCm39)	nonsense	probably null
R5473:Col24a1	UTSW	3	145,243,016 (GRCm39)	missense	probably benign	0.41
R5538:Col24a1	UTSW	3	144,998,882 (GRCm39)	missense	probably damaging	0.99
R5561:Col24a1	UTSW	3	145,004,588 (GRCm39)	missense	probably benign	0.26
R5648:Col24a1	UTSW	3	145,064,321 (GRCm39)	missense	probably benign	0.00
R5920:Col24a1	UTSW	3	145,133,985 (GRCm39)	missense	probably damaging	1.00
R6111:Col24a1	UTSW	3	145,019,815 (GRCm39)	missense	probably damaging	0.99
R6151:Col24a1	UTSW	3	145,019,815 (GRCm39)	missense	probably damaging	0.99
R6701:Col24a1	UTSW	3	145,020,141 (GRCm39)	missense	probably benign	0.00
R6728:Col24a1	UTSW	3	145,020,957 (GRCm39)	missense	probably benign
R6734:Col24a1	UTSW	3	145,214,429 (GRCm39)	missense	probably benign	0.06
R6861:Col24a1	UTSW	3	145,166,589 (GRCm39)	missense	probably damaging	1.00
R6982:Col24a1	UTSW	3	145,020,807 (GRCm39)	nonsense	probably null
R7001:Col24a1	UTSW	3	145,004,627 (GRCm39)	missense	probably benign	0.28
R7148:Col24a1	UTSW	3	145,021,060 (GRCm39)	missense	probably damaging	1.00
R7293:Col24a1	UTSW	3	145,192,059 (GRCm39)	nonsense	probably null
R7315:Col24a1	UTSW	3	145,137,625 (GRCm39)	missense	possibly damaging	0.82
R7358:Col24a1	UTSW	3	144,998,926 (GRCm39)	critical splice donor site	probably null
R7371:Col24a1	UTSW	3	145,049,459 (GRCm39)	missense	probably benign	0.06
R7383:Col24a1	UTSW	3	145,004,599 (GRCm39)	missense	probably benign
R7605:Col24a1	UTSW	3	145,244,442 (GRCm39)	missense	possibly damaging	0.67
R7650:Col24a1	UTSW	3	145,020,214 (GRCm39)	missense	probably benign	0.00
R7679:Col24a1	UTSW	3	145,105,110 (GRCm39)	missense	possibly damaging	0.81
R7701:Col24a1	UTSW	3	145,072,656 (GRCm39)	splice site	probably null
R7701:Col24a1	UTSW	3	145,020,772 (GRCm39)	missense	probably benign
R7805:Col24a1	UTSW	3	145,019,901 (GRCm39)	missense	probably benign	0.02
R7913:Col24a1	UTSW	3	145,137,621 (GRCm39)	nonsense	probably null
R7921:Col24a1	UTSW	3	145,179,993 (GRCm39)	missense	probably damaging	1.00
R8056:Col24a1	UTSW	3	145,019,925 (GRCm39)	missense	possibly damaging	0.73
R8240:Col24a1	UTSW	3	145,213,457 (GRCm39)	missense	probably benign	0.31
R8294:Col24a1	UTSW	3	145,186,844 (GRCm39)	missense	probably null	1.00
R8305:Col24a1	UTSW	3	145,179,937 (GRCm39)	missense	probably benign	0.00
R8430:Col24a1	UTSW	3	145,021,060 (GRCm39)	missense	probably damaging	1.00
R8708:Col24a1	UTSW	3	145,251,020 (GRCm39)	missense	probably damaging	0.99
R8880:Col24a1	UTSW	3	145,019,798 (GRCm39)	missense	probably null
R9056:Col24a1	UTSW	3	145,021,009 (GRCm39)	missense	probably damaging	0.96
R9461:Col24a1	UTSW	3	145,186,879 (GRCm39)	nonsense	probably null
R9612:Col24a1	UTSW	3	145,250,960 (GRCm39)	missense	probably benign	0.32
R9777:Col24a1	UTSW	3	145,021,103 (GRCm39)	nonsense	probably null
Z1176:Col24a1	UTSW	3	145,048,259 (GRCm39)	missense	probably damaging	1.00
Z1177:Col24a1	UTSW	3	145,048,260 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCCTGAGAATGACTGACACTTTG -3'
(R):5'- TGTCAGTGTCTGTGCCCATG -3'

Sequencing Primer
(F):5'- AACTCACTTTGTAGGCCAGG -3'
(R):5'- CCATGCCTGCCTTGTGTGTG -3'

Posted On

2015-05-15