Mutagenetix > Incidental Mutation

Incidental Mutation 'R7679:Col24a1'

592622

Institutional Source

Beutler Lab

Gene Symbol

Col24a1

Ensembl Gene

ENSMUSG00000028197

Gene Name

collagen, type XXIV, alpha 1

Synonyms

5430404K19Rik

MMRRC Submission

045707-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7679 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145292472-145552011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 145399355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 824 (T824N)

Ref Sequence

ENSEMBL: ENSMUSP00000029848 (fasta)

Gene Model

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

AlphaFold

Q30D77

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029848
AA Change: T824N

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: T824N

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	C	14: 78,514,816 (GRCm38)	Y206D		Het
Atm	A	T	9: 53,442,497 (GRCm38)	I2906N	probably damaging	Het
B4galnt4	T	C	7: 141,067,765 (GRCm38)	V422A	probably benign	Het
Bod1l	TTCAGGGATC	TTC	5: 41,820,643 (GRCm38)		probably null	Het
Ccar2	G	A	14: 70,139,235 (GRCm38)	Q887*	probably null	Het
Cdh13	A	G	8: 119,236,919 (GRCm38)	I413V	probably benign	Het
Cfap54	A	G	10: 92,967,512 (GRCm38)	V1556A	probably benign	Het
Chchd7	A	T	4: 3,941,297 (GRCm38)	N14Y	probably damaging	Het
Col6a3	A	T	1: 90,811,751 (GRCm38)	Y859N	possibly damaging	Het
Dnaaf5	C	T	5: 139,150,637 (GRCm38)	P131S	unknown	Het
Erh	T	C	12: 80,637,571 (GRCm38)	N44S	probably benign	Het
Esm1	T	A	13: 113,210,112 (GRCm38)	D90E	probably damaging	Het
Fbxo44	A	G	4: 148,153,632 (GRCm38)	F213L	probably benign	Het
Flnc	A	G	6: 29,456,790 (GRCm38)	T2262A	probably benign	Het
Fmo9	T	C	1: 166,667,489 (GRCm38)	Q281R	probably benign	Het
Gdpgp1	G	T	7: 80,238,576 (GRCm38)	E118D	probably benign	Het
Gnas	A	T	2: 174,284,831 (GRCm38)	Q53L	probably damaging	Het
Gpr142	G	A	11: 114,806,707 (GRCm38)	V360M	possibly damaging	Het
Grn	A	G	11: 102,433,069 (GRCm38)	D46G	probably benign	Het
H2-T10	A	G	17: 36,119,324 (GRCm38)	F242L	not run	Het
Hgsnat	T	C	8: 25,954,637 (GRCm38)	T428A	probably damaging	Het
Hoxa9	A	G	6: 52,224,308 (GRCm38)	I251T	probably damaging	Het
Inpp5f	C	T	7: 128,694,523 (GRCm38)	T866I	possibly damaging	Het
Itgb1	T	A	8: 128,720,448 (GRCm38)	N481K	probably damaging	Het
Leng9	C	A	7: 4,149,660 (GRCm38)	D6Y	probably benign	Het
Lox	A	C	18: 52,525,106 (GRCm38)	F332V	possibly damaging	Het
Lrp1	G	T	10: 127,588,428 (GRCm38)	Y796*	probably null	Het
Lrrc32	G	A	7: 98,499,687 (GRCm38)	G558D	possibly damaging	Het
Lrrk2	A	G	15: 91,726,186 (GRCm38)	E707G	possibly damaging	Het
Matn4	A	G	2: 164,389,658 (GRCm38)	*625R	probably null	Het
Mcur1	T	A	13: 43,544,483 (GRCm38)	K314*	probably null	Het
Med1	G	C	11: 98,156,061 (GRCm38)	P1303R	unknown	Het
Mgam	T	C	6: 40,643,046 (GRCm38)	L23P	probably damaging	Het
Muc6	G	C	7: 141,637,746 (GRCm38)	P2338R	probably damaging	Het
Nfatc1	T	C	18: 80,607,990 (GRCm38)	I936V	probably benign	Het
Nol11	T	C	11: 107,173,316 (GRCm38)	S557G	probably benign	Het
Palb2	A	G	7: 122,128,014 (GRCm38)	I211T	probably benign	Het
Pard3	T	C	8: 127,371,846 (GRCm38)	V456A	probably benign	Het
Pax2	G	A	19: 44,760,937 (GRCm38)	V40M	probably damaging	Het
Pik3cb	T	C	9: 99,088,607 (GRCm38)	K344E	probably benign	Het
Pik3r3	T	A	4: 116,256,195 (GRCm38)	M45K	probably benign	Het
Plat	G	T	8: 22,772,232 (GRCm38)	G91W	probably damaging	Het
Pot1a	A	G	6: 25,771,634 (GRCm38)	V196A	probably benign	Het
Ppp1r32	T	C	19: 10,482,254 (GRCm38)	T30A	probably damaging	Het
Prkdc	T	A	16: 15,831,319 (GRCm38)	I3719N	probably damaging	Het
Psg16	G	A	7: 17,093,760 (GRCm38)	G123S	probably damaging	Het
Psme4	A	G	11: 30,878,425 (GRCm38)	D1815G	probably damaging	Het
Rpe65	C	T	3: 159,604,393 (GRCm38)	T101I	probably damaging	Het
Rpp25l	A	C	4: 41,712,326 (GRCm38)	C150G	unknown	Het
Serpina1b	A	T	12: 103,730,515 (GRCm38)	W212R	probably damaging	Het
Slc9a3	G	A	13: 74,160,276 (GRCm38)	R466H	possibly damaging	Het
Sned1	T	C	1: 93,236,038 (GRCm38)	L17P	unknown	Het
Speg	C	T	1: 75,406,315 (GRCm38)	T1056I	probably damaging	Het
Tada1	T	C	1: 166,391,971 (GRCm38)	F281L	probably benign	Het
Tbcd	G	A	11: 121,603,708 (GRCm38)	V1032I	probably benign	Het
Tlr3	A	T	8: 45,399,051 (GRCm38)	S270T	probably benign	Het
Txndc15	G	T	13: 55,725,808 (GRCm38)	R327L	probably damaging	Het
Zfp169	G	C	13: 48,498,383 (GRCm38)	L66V	probably damaging	Het
Zfp442	G	T	2: 150,410,997 (GRCm38)	Y45*	probably null	Het
Zzef1	A	G	11: 72,893,278 (GRCm38)	D2003G	probably benign	Het

Other mutations in Col24a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Col24a1	APN	3	145,362,309 (GRCm38)	missense	probably damaging	1.00
IGL00931:Col24a1	APN	3	145,461,470 (GRCm38)	missense	probably benign	0.00
IGL01160:Col24a1	APN	3	145,507,713 (GRCm38)	missense	probably damaging	1.00
IGL01355:Col24a1	APN	3	145,314,876 (GRCm38)	missense	probably benign	0.07
IGL01409:Col24a1	APN	3	145,538,564 (GRCm38)	missense	probably benign	0.19
IGL01587:Col24a1	APN	3	145,433,355 (GRCm38)	splice site	probably null
IGL01666:Col24a1	APN	3	145,344,686 (GRCm38)	missense	possibly damaging	0.93
IGL01717:Col24a1	APN	3	145,524,263 (GRCm38)	splice site	probably benign
IGL01721:Col24a1	APN	3	145,538,567 (GRCm38)	missense	probably benign	0.26
IGL01939:Col24a1	APN	3	145,315,244 (GRCm38)	missense	probably damaging	1.00
IGL01988:Col24a1	APN	3	145,524,167 (GRCm38)	splice site	probably null
IGL02002:Col24a1	APN	3	145,356,944 (GRCm38)	missense	possibly damaging	0.81
IGL02172:Col24a1	APN	3	145,314,962 (GRCm38)	missense	probably benign	0.34
IGL02552:Col24a1	APN	3	145,474,207 (GRCm38)	missense	possibly damaging	0.88
IGL02559:Col24a1	APN	3	145,314,173 (GRCm38)	missense	probably benign
IGL02582:Col24a1	APN	3	145,314,486 (GRCm38)	missense	probably damaging	1.00
IGL02652:Col24a1	APN	3	145,492,301 (GRCm38)	nonsense	probably null
IGL02942:Col24a1	APN	3	145,541,665 (GRCm38)	missense	probably damaging	1.00
IGL03032:Col24a1	APN	3	145,538,703 (GRCm38)	critical splice donor site	probably null
IGL03108:Col24a1	APN	3	145,323,401 (GRCm38)	missense	probably damaging	1.00
IGL03310:Col24a1	APN	3	145,313,983 (GRCm38)	splice site	probably benign
IGL03405:Col24a1	APN	3	145,315,157 (GRCm38)	missense	possibly damaging	0.73
R0066:Col24a1	UTSW	3	145,545,144 (GRCm38)	missense	probably damaging	1.00
R0066:Col24a1	UTSW	3	145,545,144 (GRCm38)	missense	probably damaging	1.00
R0379:Col24a1	UTSW	3	145,524,142 (GRCm38)	missense	possibly damaging	0.94
R0502:Col24a1	UTSW	3	145,545,316 (GRCm38)	splice site	probably benign
R0556:Col24a1	UTSW	3	145,314,728 (GRCm38)	missense	possibly damaging	0.53
R0587:Col24a1	UTSW	3	145,293,145 (GRCm38)	missense	possibly damaging	0.50
R0617:Col24a1	UTSW	3	145,314,120 (GRCm38)	missense	probably damaging	1.00
R0831:Col24a1	UTSW	3	145,328,759 (GRCm38)	missense	probably damaging	1.00
R1455:Col24a1	UTSW	3	145,460,838 (GRCm38)	missense	probably damaging	1.00
R1664:Col24a1	UTSW	3	145,389,600 (GRCm38)	critical splice donor site	probably null
R1713:Col24a1	UTSW	3	145,366,869 (GRCm38)	nonsense	probably null
R1854:Col24a1	UTSW	3	145,459,140 (GRCm38)	missense	probably damaging	1.00
R1855:Col24a1	UTSW	3	145,459,140 (GRCm38)	missense	probably damaging	1.00
R1861:Col24a1	UTSW	3	145,537,267 (GRCm38)	critical splice donor site	probably null
R1969:Col24a1	UTSW	3	145,314,930 (GRCm38)	missense	probably benign	0.03
R2216:Col24a1	UTSW	3	145,314,981 (GRCm38)	missense	probably benign	0.34
R2290:Col24a1	UTSW	3	145,513,195 (GRCm38)	missense	probably damaging	1.00
R3702:Col24a1	UTSW	3	145,337,860 (GRCm38)	missense	probably benign	0.01
R3772:Col24a1	UTSW	3	145,545,286 (GRCm38)	missense	probably damaging	1.00
R4086:Col24a1	UTSW	3	145,461,437 (GRCm38)	missense	probably damaging	1.00
R4236:Col24a1	UTSW	3	145,524,282 (GRCm38)	nonsense	probably null
R4433:Col24a1	UTSW	3	145,314,383 (GRCm38)	missense	possibly damaging	0.95
R4688:Col24a1	UTSW	3	145,314,383 (GRCm38)	missense	probably benign	0.00
R4972:Col24a1	UTSW	3	145,509,684 (GRCm38)	missense	probably benign	0.42
R5157:Col24a1	UTSW	3	145,345,951 (GRCm38)	nonsense	probably null
R5216:Col24a1	UTSW	3	145,315,310 (GRCm38)	missense	possibly damaging	0.85
R5274:Col24a1	UTSW	3	145,484,678 (GRCm38)	missense	probably benign	0.03
R5334:Col24a1	UTSW	3	145,461,525 (GRCm38)	missense	possibly damaging	0.91
R5416:Col24a1	UTSW	3	145,315,025 (GRCm38)	nonsense	probably null
R5473:Col24a1	UTSW	3	145,537,261 (GRCm38)	missense	probably benign	0.41
R5538:Col24a1	UTSW	3	145,293,121 (GRCm38)	missense	probably damaging	0.99
R5561:Col24a1	UTSW	3	145,298,827 (GRCm38)	missense	probably benign	0.26
R5648:Col24a1	UTSW	3	145,358,566 (GRCm38)	missense	probably benign	0.00
R5920:Col24a1	UTSW	3	145,428,230 (GRCm38)	missense	probably damaging	1.00
R6111:Col24a1	UTSW	3	145,314,054 (GRCm38)	missense	probably damaging	0.99
R6151:Col24a1	UTSW	3	145,314,054 (GRCm38)	missense	probably damaging	0.99
R6701:Col24a1	UTSW	3	145,314,380 (GRCm38)	missense	probably benign	0.00
R6728:Col24a1	UTSW	3	145,315,196 (GRCm38)	missense	probably benign
R6734:Col24a1	UTSW	3	145,508,674 (GRCm38)	missense	probably benign	0.06
R6861:Col24a1	UTSW	3	145,460,834 (GRCm38)	missense	probably damaging	1.00
R6982:Col24a1	UTSW	3	145,315,046 (GRCm38)	nonsense	probably null
R7001:Col24a1	UTSW	3	145,298,866 (GRCm38)	missense	probably benign	0.28
R7148:Col24a1	UTSW	3	145,315,299 (GRCm38)	missense	probably damaging	1.00
R7293:Col24a1	UTSW	3	145,486,304 (GRCm38)	nonsense	probably null
R7315:Col24a1	UTSW	3	145,431,870 (GRCm38)	missense	possibly damaging	0.82
R7358:Col24a1	UTSW	3	145,293,165 (GRCm38)	critical splice donor site	probably null
R7371:Col24a1	UTSW	3	145,343,698 (GRCm38)	missense	probably benign	0.06
R7383:Col24a1	UTSW	3	145,298,838 (GRCm38)	missense	probably benign
R7605:Col24a1	UTSW	3	145,538,687 (GRCm38)	missense	possibly damaging	0.67
R7650:Col24a1	UTSW	3	145,314,453 (GRCm38)	missense	probably benign	0.00
R7701:Col24a1	UTSW	3	145,366,901 (GRCm38)	splice site	probably null
R7701:Col24a1	UTSW	3	145,315,011 (GRCm38)	missense	probably benign
R7805:Col24a1	UTSW	3	145,314,140 (GRCm38)	missense	probably benign	0.02
R7913:Col24a1	UTSW	3	145,431,866 (GRCm38)	nonsense	probably null
R7921:Col24a1	UTSW	3	145,474,238 (GRCm38)	missense	probably damaging	1.00
R8056:Col24a1	UTSW	3	145,314,164 (GRCm38)	missense	possibly damaging	0.73
R8240:Col24a1	UTSW	3	145,507,702 (GRCm38)	missense	probably benign	0.31
R8294:Col24a1	UTSW	3	145,481,089 (GRCm38)	missense	probably null	1.00
R8305:Col24a1	UTSW	3	145,474,182 (GRCm38)	missense	probably benign	0.00
R8430:Col24a1	UTSW	3	145,315,299 (GRCm38)	missense	probably damaging	1.00
R8708:Col24a1	UTSW	3	145,545,265 (GRCm38)	missense	probably damaging	0.99
R8880:Col24a1	UTSW	3	145,314,037 (GRCm38)	missense	probably null
R9056:Col24a1	UTSW	3	145,315,248 (GRCm38)	missense	probably damaging	0.96
R9461:Col24a1	UTSW	3	145,481,124 (GRCm38)	nonsense	probably null
R9612:Col24a1	UTSW	3	145,545,205 (GRCm38)	missense	probably benign	0.32
R9777:Col24a1	UTSW	3	145,315,342 (GRCm38)	nonsense	probably null
Z1176:Col24a1	UTSW	3	145,342,498 (GRCm38)	missense	probably damaging	1.00
Z1177:Col24a1	UTSW	3	145,342,499 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTAGCACCTTCTAGATAATTTGTG -3'
(R):5'- TAAATCACCAAGGAGCTCCG -3'

Sequencing Primer
(F):5'- GTGATTTTGCTCAGTTTCAATCTC -3'
(R):5'- GAGCTCCGTAAAATAAATCCAAATTC -3'

Posted On

2019-11-12