Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Col24a1'

669341

Institutional Source

Beutler Lab

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

MMRRC Submission

068562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144998233-145257766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 145251020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1673 (T1673I)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

probably damaging
Transcript: ENSMUST00000029848
AA Change: T1673I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: T1673I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,403,400 (GRCm39)	K230R	probably damaging	Het
Ajm1	C	A	2: 25,467,814 (GRCm39)	R699L	possibly damaging	Het
Akp3	T	A	1: 87,054,091 (GRCm39)	Y236*	probably null	Het
Alg11	T	C	8: 22,555,129 (GRCm39)	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,394,756 (GRCm39)	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,727,344 (GRCm39)	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,573,169 (GRCm39)	T68A	probably benign	Het
Arhgap23	A	G	11: 97,343,238 (GRCm39)	T507A	probably benign	Het
Arid1a	A	T	4: 133,409,145 (GRCm39)	D1787E	unknown	Het
Atad2b	T	A	12: 5,011,253 (GRCm39)	D504E	probably damaging	Het
Atg2b	T	A	12: 105,635,687 (GRCm39)		probably benign	Het
Bptf	C	A	11: 106,964,139 (GRCm39)	S1685I	probably damaging	Het
Bptf	T	A	11: 106,964,140 (GRCm39)	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,604,416 (GRCm39)	I1437N		Het
Capn1	T	C	19: 6,061,328 (GRCm39)	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,805,891 (GRCm39)	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,863,095 (GRCm39)	M9I	probably benign	Het
Celf1	T	A	2: 90,840,925 (GRCm39)		probably null	Het
Ckap5	T	A	2: 91,425,823 (GRCm39)	N1285K	probably benign	Het
Dbp	A	G	7: 45,359,225 (GRCm39)	E300G	probably damaging	Het
Dchs2	C	A	3: 83,036,049 (GRCm39)	H265Q	probably benign	Het
Dicer1	A	T	12: 104,694,704 (GRCm39)	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,661,266 (GRCm39)	F86L	probably benign	Het
Dnhd1	T	G	7: 105,343,487 (GRCm39)	Y1610*	probably null	Het
Dock5	A	G	14: 68,004,820 (GRCm39)	V1529A	probably benign	Het
Egfr	G	T	11: 16,817,300 (GRCm39)		probably benign	Het
Exph5	T	A	9: 53,287,096 (GRCm39)	H1392Q	probably benign	Het
Fam78b	A	G	1: 166,906,332 (GRCm39)	K164E	possibly damaging	Het
Fignl2	C	A	15: 100,950,734 (GRCm39)	R516L	unknown	Het
Fndc7	C	T	3: 108,774,528 (GRCm39)	E577K	probably benign	Het
Fryl	T	C	5: 73,289,905 (GRCm39)	E107G	probably benign	Het
Gbp10	A	T	5: 105,368,831 (GRCm39)	M336K	probably damaging	Het
Gm11444	A	T	11: 85,737,723 (GRCm39)	C156S		Het
Golga3	C	A	5: 110,350,721 (GRCm39)	A752E	probably benign	Het
Gper1	G	T	5: 139,411,690 (GRCm39)	V12L	probably benign	Het
Hmbox1	G	T	14: 65,061,089 (GRCm39)	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,705,955 (GRCm39)	I77L	probably benign	Het
Ing4	A	T	6: 125,024,895 (GRCm39)	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824 (GRCm39)		probably null	Het
Itpa	T	A	2: 130,517,639 (GRCm39)	V129E	probably damaging	Het
Itpripl1	T	A	2: 126,983,262 (GRCm39)	M287L	probably benign	Het
Klc3	T	C	7: 19,129,784 (GRCm39)	I362V	probably damaging	Het
Ky	T	A	9: 102,402,590 (GRCm39)		probably benign	Het
Lasp1	A	G	11: 97,697,709 (GRCm39)	N43S	possibly damaging	Het
Limk2	A	G	11: 3,300,763 (GRCm39)	M380T	probably benign	Het
Lrp2	T	A	2: 69,289,957 (GRCm39)	E3627D	probably damaging	Het
Lrrc25	T	C	8: 71,070,459 (GRCm39)	L80P	probably damaging	Het
Mcoln3	A	T	3: 145,846,276 (GRCm39)	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854 (GRCm39)	D2591A	probably damaging	Het
Med12l	A	G	3: 59,159,751 (GRCm39)	I1267V	probably benign	Het
Mei4	C	A	9: 81,809,595 (GRCm39)	S226*	probably null	Het
Mios	G	A	6: 8,234,255 (GRCm39)	V809M	probably benign	Het
Mmp17	G	A	5: 129,672,486 (GRCm39)	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,527,218 (GRCm39)	Q36*	probably null	Het
Myo3a	T	A	2: 22,296,607 (GRCm39)		probably benign	Het
Naca	A	T	10: 127,883,943 (GRCm39)	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,322,564 (GRCm39)	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,068,603 (GRCm39)	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,874,758 (GRCm39)		probably null	Het
Or1af1	T	A	2: 37,109,956 (GRCm39)	S152T	probably damaging	Het
Or4a72	C	A	2: 89,405,623 (GRCm39)	G149V	probably damaging	Het
Or5b124	T	C	19: 13,611,401 (GRCm39)	S309P	probably benign	Het
Or6c5	T	A	10: 129,074,678 (GRCm39)	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,634,063 (GRCm39)	D107G	probably benign	Het
Pde2a	A	G	7: 101,159,588 (GRCm39)	D816G	probably damaging	Het
Phf10	T	A	17: 15,176,261 (GRCm39)	T131S	possibly damaging	Het
Phf11	A	T	14: 59,482,262 (GRCm39)	C164S	probably damaging	Het
Phrf1	A	G	7: 140,812,446 (GRCm39)	D70G	unknown	Het
Piezo2	A	G	18: 63,226,086 (GRCm39)	L850S	probably damaging	Het
Plcg1	T	A	2: 160,596,473 (GRCm39)		probably benign	Het
Plekhh2	A	T	17: 84,882,421 (GRCm39)	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196 (GRCm39)	V804G	probably damaging	Het
Ppt2	T	C	17: 34,844,613 (GRCm39)	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,618,066 (GRCm39)	H398R	unknown	Het
Rab26	A	T	17: 24,748,772 (GRCm39)	M208K	probably damaging	Het
Rab31	A	C	17: 65,974,859 (GRCm39)		probably benign	Het
Radil	A	G	5: 142,471,204 (GRCm39)	V1024A	probably damaging	Het
Rorb	A	G	19: 18,960,780 (GRCm39)	I65T	probably damaging	Het
Sall1	A	T	8: 89,759,483 (GRCm39)	V207E	probably damaging	Het
Sart3	A	T	5: 113,882,728 (GRCm39)	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,431,457 (GRCm39)	S277T	probably benign	Het
Septin5	A	G	16: 18,443,622 (GRCm39)	V100A	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Ski	A	T	4: 155,245,119 (GRCm39)	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,673,715 (GRCm39)	D566E	probably benign	Het
Srgap2	G	A	1: 131,273,544 (GRCm39)	Q372*	probably null	Het
Stard9	A	G	2: 120,534,059 (GRCm39)	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769 (GRCm39)		probably benign	Het
Tmco3	A	G	8: 13,345,998 (GRCm39)	M279V	probably benign	Het
Tmem39b	T	C	4: 129,570,191 (GRCm39)		probably benign	Het
Trio	T	A	15: 27,732,632 (GRCm39)	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,531,151 (GRCm39)	R215Q	probably benign	Het
Ubr1	T	C	2: 120,696,964 (GRCm39)	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,776,108 (GRCm39)	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,682,687 (GRCm39)	N839I	probably damaging	Het
Vmn2r75	A	T	7: 85,812,476 (GRCm39)	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,689,489 (GRCm39)	V3016L		Het
Wdr11	A	G	7: 129,200,780 (GRCm39)	N77S	probably benign	Het
Wdr17	C	A	8: 55,093,127 (GRCm39)		probably benign	Het
Wrn	T	A	8: 33,782,671 (GRCm39)	N753I	probably damaging	Het
Zan	A	G	5: 137,461,539 (GRCm39)		probably null	Het
Zfat	T	A	15: 67,956,278 (GRCm39)	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,312,509 (GRCm39)	S62A	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
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
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'- GTTTGGAGTCAGCAAAGTACAGATG -3'
(R):5'- TCCAAGAGTAAGCTGTGCATAG -3'

Sequencing Primer
(F):5'- CAGATGAACTTTCTTCACTTGCTGAG -3'
(R):5'- TTCATAGAGAGACCCGGCTTCAG -3'

Posted On

2021-04-30