Mutagenetix > Incidental Mutation

Incidental Mutation 'R5157:Col24a1'

396770

Institutional Source

Beutler Lab

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

MMRRC Submission

042739-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144998233-145257766 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 145051712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 661 (G661*)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

probably null
Transcript: ENSMUST00000029848
AA Change: G661*

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: G661*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (57/57)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,627,096 (GRCm39)	R1266C	probably damaging	Het
Adap2	T	C	11: 80,047,772 (GRCm39)	F76S	probably damaging	Het
Adgb	T	A	10: 10,274,710 (GRCm39)	H747L	probably damaging	Het
Aox1	T	A	1: 58,109,222 (GRCm39)	V670D	probably damaging	Het
Ap4e1	A	G	2: 126,903,615 (GRCm39)	D839G	probably benign	Het
Arhgef11	T	A	3: 87,635,817 (GRCm39)		probably null	Het
AY074887	T	C	9: 54,858,102 (GRCm39)		probably benign	Het
Bicd1	C	G	6: 149,421,912 (GRCm39)	Q878E	probably benign	Het
Catspere1	A	T	1: 177,707,348 (GRCm39)		noncoding transcript	Het
Cnmd	T	C	14: 79,894,126 (GRCm39)	Q87R	probably benign	Het
Crtap	G	A	9: 114,213,860 (GRCm39)	L232F	probably damaging	Het
Ctsq	T	C	13: 61,184,913 (GRCm39)	T258A	probably benign	Het
Cyp2d26	T	C	15: 82,675,190 (GRCm39)	Q388R	probably benign	Het
Ddb1	A	T	19: 10,599,728 (GRCm39)	T646S	probably benign	Het
Dnah6	G	T	6: 73,172,617 (GRCm39)	S280R	probably benign	Het
Dzank1	T	C	2: 144,325,332 (GRCm39)	H545R	probably damaging	Het
Ehhadh	T	A	16: 21,585,261 (GRCm39)	M207L	probably benign	Het
Elmo2	T	A	2: 165,133,627 (GRCm39)		probably benign	Het
Golga3	G	A	5: 110,350,537 (GRCm39)	A731T	probably benign	Het
Igsf21	T	C	4: 139,755,378 (GRCm39)	T426A	possibly damaging	Het
Kcnf1	T	C	12: 17,224,742 (GRCm39)	E493G	probably benign	Het
Lmna	A	T	3: 88,391,414 (GRCm39)	D364E	probably damaging	Het
Lsr	T	C	7: 30,665,465 (GRCm39)	Y163C	probably damaging	Het
Map3k20	A	T	2: 72,268,558 (GRCm39)	T522S	probably benign	Het
Mroh9	C	A	1: 162,871,690 (GRCm39)	A598S	probably damaging	Het
Msln	T	C	17: 25,971,957 (GRCm39)	M87V	probably benign	Het
Or14c39	A	G	7: 86,344,440 (GRCm39)	K259E	probably benign	Het
Or1e26	T	C	11: 73,480,549 (GRCm39)	N5S	probably damaging	Het
Or4a27	T	A	2: 88,559,892 (GRCm39)	Q17L	probably benign	Het
Or5d16	T	A	2: 87,773,232 (GRCm39)	M247L	probably benign	Het
Pals1	T	A	12: 78,867,589 (GRCm39)	M324K	possibly damaging	Het
Plekhg5	T	A	4: 152,192,322 (GRCm39)		probably benign	Het
Pprc1	G	T	19: 46,053,197 (GRCm39)		probably benign	Het
Ptprm	T	A	17: 67,264,092 (GRCm39)	K385I	probably benign	Het
Rfxap	T	A	3: 54,711,938 (GRCm39)	N215I	probably damaging	Het
Slc16a7	A	T	10: 125,069,333 (GRCm39)	Y114*	probably null	Het
Smarcb1	G	T	10: 75,747,628 (GRCm39)		probably benign	Het
Spef2	T	A	15: 9,668,877 (GRCm39)	R770*	probably null	Het
Stard9	A	T	2: 120,528,342 (GRCm39)	Y1533F	probably benign	Het
Tbcd	A	T	11: 121,500,853 (GRCm39)	Y1142F	probably benign	Het
Trappc2b	A	T	11: 51,576,893 (GRCm39)	S2T	probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Uba7	G	A	9: 107,857,246 (GRCm39)	V703I	probably benign	Het
Upb1	T	C	10: 75,248,638 (GRCm39)	S53P	possibly damaging	Het
Zfp672	A	G	11: 58,207,677 (GRCm39)	S215P	possibly damaging	Het
Zfp978	T	A	4: 147,475,437 (GRCm39)	L328H	probably damaging	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
R4086:Col24a1	UTSW	3	145,167,192 (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
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'- AGCAATCTTCTCTGGAGAATGGC -3'
(R):5'- TTGGGGCTACACCAAAAGGC -3'

Sequencing Primer
(F):5'- GAGACTTCTCTGGACATGATAC -3'
(R):5'- GCTACACCAAAAGGCTAAGAGGTATC -3'

Posted On

2016-06-21