Mutagenetix > Incidental Mutation

Incidental Mutation 'R1861:Col24a1'

203879

Institutional Source

Beutler Lab

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

MMRRC Submission

039884-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1861 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

144998233-145257766 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 145243022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

probably null
Transcript: ENSMUST00000029848

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197

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

noncoding transcript
Transcript: ENSMUST00000127379

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (117/121)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	C	A	9: 89,034,884 (GRCm39)		noncoding transcript	Het
Abra	C	A	15: 41,732,430 (GRCm39)	R212L	probably damaging	Het
Actr1a	T	C	19: 46,372,714 (GRCm39)	E87G	probably damaging	Het
Adam26a	A	G	8: 44,022,578 (GRCm39)	V304A	possibly damaging	Het
Alg2	T	A	4: 47,471,670 (GRCm39)	K379N	probably benign	Het
Alk	G	T	17: 72,181,933 (GRCm39)		probably benign	Het
Aopep	A	G	13: 63,163,597 (GRCm39)	Y206C	probably damaging	Het
Arhgef17	A	G	7: 100,531,475 (GRCm39)	Y331H	probably damaging	Het
Art3	A	G	5: 92,560,094 (GRCm39)		probably benign	Het
Asap1	G	A	15: 64,007,647 (GRCm39)		probably benign	Het
Atad2	A	T	15: 57,960,114 (GRCm39)		probably null	Het
Atp8b5	G	A	4: 43,372,906 (GRCm39)	R1150H	probably damaging	Het
Bltp2	C	T	11: 78,178,755 (GRCm39)		probably benign	Het
Brdt	T	C	5: 107,507,324 (GRCm39)	S575P	probably benign	Het
Capn3	T	A	2: 120,316,963 (GRCm39)		probably benign	Het
Casd1	T	A	6: 4,640,951 (GRCm39)	Y691N	probably damaging	Het
Ccdc127	T	G	13: 74,505,098 (GRCm39)	H215Q	possibly damaging	Het
Cenpe	T	C	3: 134,974,740 (GRCm39)	L2300P	probably damaging	Het
Clasp1	T	C	1: 118,498,661 (GRCm39)	F898L	possibly damaging	Het
Clcn1	C	A	6: 42,290,925 (GRCm39)	P933Q	possibly damaging	Het
Cntn3	T	A	6: 102,222,032 (GRCm39)	N489I	probably benign	Het
Col16a1	T	C	4: 129,955,517 (GRCm39)		probably benign	Het
Col8a2	C	T	4: 126,205,417 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,675,208 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,522,588 (GRCm39)	C2694S	probably damaging	Het
Cyp2c40	T	C	19: 39,775,319 (GRCm39)	Y311C	probably benign	Het
Dennd5b	T	A	6: 148,969,760 (GRCm39)	N231I	probably damaging	Het
Dgkh	T	A	14: 78,816,232 (GRCm39)	H936L	probably benign	Het
Dmtf1	T	C	5: 9,170,347 (GRCm39)		probably null	Het
Dnai2	T	C	11: 114,643,777 (GRCm39)	V481A	possibly damaging	Het
Dnai3	T	C	3: 145,788,801 (GRCm39)	Y260C	probably damaging	Het
Dpyd	T	G	3: 118,710,780 (GRCm39)	V396G	probably damaging	Het
Elmo3	A	G	8: 106,035,213 (GRCm39)	D448G	probably damaging	Het
Emsy	A	T	7: 98,290,822 (GRCm39)	V100E	probably damaging	Het
Erbb2	T	C	11: 98,303,563 (GRCm39)		probably null	Het
Faah	T	C	4: 115,865,432 (GRCm39)	K85R	probably benign	Het
Fam149a	A	T	8: 45,792,399 (GRCm39)	Y686*	probably null	Het
Fat4	T	C	3: 39,064,633 (GRCm39)	V4863A	probably benign	Het
Fbxl8	A	G	8: 105,995,561 (GRCm39)	T358A	probably damaging	Het
Fcgbpl1	A	G	7: 27,854,157 (GRCm39)	Y1707C	probably damaging	Het
Fgfr3	A	G	5: 33,887,090 (GRCm39)	T165A	probably damaging	Het
Fnbp1l	A	T	3: 122,354,581 (GRCm39)	H180Q	probably damaging	Het
Gm8180	T	A	14: 44,021,196 (GRCm39)	H4L	probably benign	Het
Gon4l	T	C	3: 88,802,794 (GRCm39)	V1135A	probably damaging	Het
Gstcd	G	T	3: 132,688,868 (GRCm39)	N627K	probably damaging	Het
Gtf2a1l	G	A	17: 89,022,382 (GRCm39)	V458I	probably damaging	Het
Gtf3c3	T	C	1: 54,477,997 (GRCm39)	E26G	possibly damaging	Het
Hrct1	A	T	4: 43,727,404 (GRCm39)	T15S	probably benign	Het
Ift122	C	A	6: 115,868,889 (GRCm39)	R459S	probably damaging	Het
Irf1	T	A	11: 53,665,183 (GRCm39)	C187S	possibly damaging	Het
Kcnh7	A	G	2: 62,607,736 (GRCm39)	V615A	probably damaging	Het
Kif1c	T	C	11: 70,594,168 (GRCm39)	S61P	probably damaging	Het
Mamdc2	T	C	19: 23,336,517 (GRCm39)	T331A	probably damaging	Het
Mark2	T	C	19: 7,268,128 (GRCm39)	D25G	possibly damaging	Het
Me2	T	C	18: 73,918,785 (GRCm39)	D432G	probably benign	Het
Mfap3	T	C	11: 57,419,032 (GRCm39)	V64A	probably benign	Het
Nadk2	T	A	15: 9,108,399 (GRCm39)	M416K	probably benign	Het
Ndufs1	C	T	1: 63,186,576 (GRCm39)	G631D	probably benign	Het
Nomo1	G	A	7: 45,727,525 (GRCm39)	V1055I	probably benign	Het
Nuggc	T	A	14: 65,879,450 (GRCm39)		probably benign	Het
Nwd2	T	C	5: 63,962,197 (GRCm39)	S594P	probably damaging	Het
Or13c3	T	A	4: 52,856,373 (GRCm39)	I47L	probably benign	Het
Or4a27	T	G	2: 88,559,674 (GRCm39)	I90L	probably damaging	Het
Or4b1b	C	A	2: 90,112,502 (GRCm39)	C139F	probably damaging	Het
Or5b113	T	A	19: 13,342,705 (GRCm39)	S238T	possibly damaging	Het
Or6p1	T	C	1: 174,258,657 (GRCm39)	I221T	probably damaging	Het
Or8c10	C	T	9: 38,278,902 (GRCm39)	S10L	probably benign	Het
Pakap	A	G	4: 57,709,468 (GRCm39)	I138V	probably damaging	Het
Pcyt2	G	A	11: 120,501,968 (GRCm39)	P332S	probably benign	Het
Phaf1	A	G	8: 105,966,703 (GRCm39)	E150G	probably null	Het
Phf14	A	T	6: 11,987,610 (GRCm39)	M630L	probably benign	Het
Piezo1	T	C	8: 123,222,489 (GRCm39)	N919S	possibly damaging	Het
Pif1	A	T	9: 65,496,735 (GRCm39)	I283F	probably damaging	Het
Pknox2	G	A	9: 36,834,957 (GRCm39)	H171Y	probably damaging	Het
Pramel17	A	T	4: 101,694,135 (GRCm39)	D249E	probably benign	Het
Prkg2	T	A	5: 99,095,275 (GRCm39)	D632V	probably damaging	Het
Prr29	G	A	11: 106,266,264 (GRCm39)	A6T	probably damaging	Het
Rims1	T	A	1: 22,635,639 (GRCm39)	Y114F	probably damaging	Het
Ryr1	A	T	7: 28,708,977 (GRCm39)	D4796E	unknown	Het
Scnn1b	G	A	7: 121,513,484 (GRCm39)	C399Y	probably damaging	Het
Scp2	T	C	4: 107,948,518 (GRCm39)	Y153C	probably damaging	Het
Sema3d	A	G	5: 12,547,570 (GRCm39)	K164R	probably benign	Het
Siglecf	A	G	7: 43,001,648 (GRCm39)	T153A	probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Skint2	T	C	4: 112,504,315 (GRCm39)		probably benign	Het
Slc22a8	G	A	19: 8,583,503 (GRCm39)	R236H	probably damaging	Het
Slc25a40	T	A	5: 8,492,431 (GRCm39)		probably null	Het
Slc26a5	T	C	5: 22,021,956 (GRCm39)	D490G	possibly damaging	Het
Slc26a7	G	T	4: 14,522,873 (GRCm39)	D482E	probably benign	Het
Smarca2	A	T	19: 26,601,284 (GRCm39)	M77L	probably benign	Het
Sos2	A	G	12: 69,664,137 (GRCm39)	L449P	probably damaging	Het
Spaca1	A	G	4: 34,044,206 (GRCm39)	V96A	probably damaging	Het
Spata31d1b	T	A	13: 59,865,150 (GRCm39)	I766N	possibly damaging	Het
Specc1l	T	C	10: 75,145,693 (GRCm39)	Y1113H	probably damaging	Het
Speg	A	G	1: 75,365,649 (GRCm39)	R677G	probably damaging	Het
Taf5l	A	T	8: 124,724,729 (GRCm39)	D363E	probably damaging	Het
Tex56	A	T	13: 35,116,490 (GRCm39)	I80F	possibly damaging	Het
Tmem208	A	G	8: 106,061,438 (GRCm39)	K155E	possibly damaging	Het
Tppp2	A	C	14: 52,158,062 (GRCm39)	N169T	probably benign	Het
Trrap	T	A	5: 144,752,727 (GRCm39)		probably null	Het
Ttll6	T	A	11: 96,029,700 (GRCm39)	Y204*	probably null	Het
Ttn	A	T	2: 76,602,992 (GRCm39)	I18410K	probably benign	Het
V1rd19	T	A	7: 23,703,149 (GRCm39)	V205D	probably damaging	Het
Vdac3	A	T	8: 23,070,515 (GRCm39)	I132K	possibly damaging	Het
Vmn2r95	T	G	17: 18,672,530 (GRCm39)	C756G	probably damaging	Het
Zc3h15	A	G	2: 83,494,334 (GRCm39)	T421A	unknown	Het
Zc3hc1	T	C	6: 30,374,837 (GRCm39)	T235A	probably benign	Het
Zcchc14	A	G	8: 122,335,990 (GRCm39)		probably benign	Het
Zfp318	T	A	17: 46,722,366 (GRCm39)	N1456K	possibly damaging	Het
Zfp606	A	G	7: 12,214,858 (GRCm39)		probably benign	Het
Zfp811	T	A	17: 33,016,399 (GRCm39)	H546L	probably damaging	Het
Zfp94	A	T	7: 24,008,541 (GRCm39)	Y33N	probably damaging	Het
Zfyve9	G	T	4: 108,539,492 (GRCm39)		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
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
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'- TTTCGCATCAAGGCTCCCAG -3'
(R):5'- ACACCCCGTGTATGTATTTCG -3'

Sequencing Primer
(F):5'- CCAGAACAAAATGAACAGAGGTTGTC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2014-06-23