Mutagenetix > Incidental Mutations

Incidental Mutation 'R3914:Col20a1'

309549

Institutional Source

Beutler Lab

Gene Symbol

Col20a1

Ensembl Gene

ENSMUSG00000016356

Gene Name

collagen, type XX, alpha 1

Synonyms

1700051I12Rik

MMRRC Submission

040912-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180986535-181018363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180998492 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 509 (K509R)

Ref Sequence

ENSEMBL: ENSMUSP00000115291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108856] [ENSMUST00000149179] [ENSMUST00000228434]

Predicted Effect

probably benign
Transcript: ENSMUST00000108856
AA Change: K551R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: K551R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FN3	24	103	2.18e1	SMART
VWA	175	354	4.68e-55	SMART
FN3	375	453	6.2e-7	SMART
FN3	464	543	7.34e-9	SMART
FN3	555	633	8.18e-7	SMART
FN3	644	723	8.98e-4	SMART
FN3	738	817	1.43e-11	SMART
TSPN	840	1035	6.45e-31	SMART
Pfam:Collagen	1067	1125	3.8e-9	PFAM
Pfam:Collagen	1122	1174	7.4e-9	PFAM
Pfam:Collagen	1165	1223	3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149179
AA Change: K509R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: K509R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FN3	24	103	2.18e1	SMART
VWA	175	354	4.68e-55	SMART
FN3	375	453	6.2e-7	SMART
FN3	464	543	7.34e-9	SMART
FN3	555	633	8.18e-7	SMART
FN3	644	723	8.98e-4	SMART
FN3	738	817	1.43e-11	SMART
TSPN	840	1035	6.45e-31	SMART
low complexity region	1069	1106	N/A	INTRINSIC
low complexity region	1108	1121	N/A	INTRINSIC
low complexity region	1136	1155	N/A	INTRINSIC
Blast:TSPN	1156	1202	2e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000152473

Predicted Effect

probably benign
Transcript: ENSMUST00000228434
AA Change: K509R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI481877	T	A	4: 59,094,201	R174S	possibly damaging	Het
Atp8b2	A	T	3: 89,954,448	I266N	probably damaging	Het
AU041133	G	A	10: 82,151,815	R434Q	probably damaging	Het
Ccdc174	G	T	6: 91,899,357	A392S	possibly damaging	Het
Cdh18	T	C	15: 23,410,685	Y419H	probably damaging	Het
Csmd2	A	T	4: 128,321,324	D513V	probably benign	Het
D230025D16Rik	A	G	8: 105,239,983	N121D	probably benign	Het
Disp1	A	G	1: 183,089,102	F585L	probably benign	Het
Entpd7	G	A	19: 43,691,158	R50Q	probably benign	Het
Exoc1	G	A	5: 76,543,561	S244N	possibly damaging	Het
Fam234b	A	G	6: 135,225,683	D345G	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gprc6a	T	A	10: 51,628,275	M158L	probably benign	Het
Hdc	T	C	2: 126,603,006	T255A	probably damaging	Het
Hps5	T	C	7: 46,783,526	T257A	probably damaging	Het
Ice1	A	G	13: 70,606,084	C628R	probably benign	Het
Igkv2-137	A	T	6: 67,555,984	R44W	probably damaging	Het
Islr2	A	T	9: 58,198,383	Y531*	probably null	Het
Mast4	G	A	13: 102,739,321	R1112*	probably null	Het
Mrc2	T	C	11: 105,347,232		probably benign	Het
Myo19	G	A	11: 84,894,603	R224H	probably damaging	Het
Nupl1	A	G	14: 60,232,147	M375T	possibly damaging	Het
Phldb2	T	C	16: 45,757,163	E1133G	probably damaging	Het
Rabl6	T	C	2: 25,588,706	T238A	possibly damaging	Het
Ranbp17	G	A	11: 33,479,189	A352V	probably benign	Het
Riok3	A	G	18: 12,148,822	I283V	probably benign	Het
Rrm1	A	G	7: 102,457,174	Y300C	probably damaging	Het
Sipa1l3	T	C	7: 29,400,085	D253G	probably benign	Het
Slc22a8	T	A	19: 8,608,186	I305N	probably damaging	Het
Slc26a3	A	T	12: 31,453,906	E303D	probably benign	Het
Slc32a1	C	T	2: 158,611,232		probably benign	Het
Tarsl2	C	A	7: 65,683,808	Q585K	probably benign	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Ubqlnl	A	G	7: 104,149,606	V228A	probably benign	Het
Wnt7b	T	A	15: 85,537,858	D201V	possibly damaging	Het
Xpot	A	T	10: 121,604,538	I596N	possibly damaging	Het

Other mutations in Col20a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Col20a1	APN	2	181003479	missense	possibly damaging	0.93
IGL00975:Col20a1	APN	2	180992478	missense	probably damaging	1.00
IGL01094:Col20a1	APN	2	180999766	missense	probably damaging	0.99
IGL01388:Col20a1	APN	2	181003471	missense	probably benign	0.24
IGL01472:Col20a1	APN	2	181007832	missense	probably benign	0.44
IGL01936:Col20a1	APN	2	181009368	splice site	probably benign
IGL02133:Col20a1	APN	2	181007144	missense	probably damaging	1.00
IGL02318:Col20a1	APN	2	181007159	missense	probably damaging	0.99
IGL02576:Col20a1	APN	2	181013405	nonsense	probably null
IGL02822:Col20a1	APN	2	180996807	missense	probably damaging	1.00
IGL02898:Col20a1	APN	2	180989112	nonsense	probably null
IGL03056:Col20a1	APN	2	180994889	missense	probably damaging	1.00
IGL03189:Col20a1	APN	2	181009407	nonsense	probably null
IGL03196:Col20a1	APN	2	181007878	splice site	probably null
R0001:Col20a1	UTSW	2	180984412	unclassified	probably benign
R0200:Col20a1	UTSW	2	181000438	missense	probably damaging	1.00
R0384:Col20a1	UTSW	2	180999162	missense	probably benign	0.00
R0964:Col20a1	UTSW	2	180984485	unclassified	probably benign
R0975:Col20a1	UTSW	2	181006826	missense	possibly damaging	0.75
R1359:Col20a1	UTSW	2	180999792	missense	probably benign	0.02
R1395:Col20a1	UTSW	2	180998607	missense	probably damaging	0.99
R1470:Col20a1	UTSW	2	180994960	missense	probably benign	0.01
R1470:Col20a1	UTSW	2	180994960	missense	probably benign	0.01
R1508:Col20a1	UTSW	2	180992577	missense	probably damaging	0.98
R1865:Col20a1	UTSW	2	181015813	missense	possibly damaging	0.87
R1883:Col20a1	UTSW	2	180992910	missense	possibly damaging	0.52
R1884:Col20a1	UTSW	2	180992910	missense	possibly damaging	0.52
R1906:Col20a1	UTSW	2	180998697	missense	probably benign	0.00
R2020:Col20a1	UTSW	2	181013163	critical splice donor site	probably null
R2121:Col20a1	UTSW	2	180996456	missense	probably damaging	0.99
R2131:Col20a1	UTSW	2	180992573	missense	probably damaging	1.00
R2343:Col20a1	UTSW	2	181001331	missense	possibly damaging	0.73
R3153:Col20a1	UTSW	2	181008593	missense	probably damaging	1.00
R3430:Col20a1	UTSW	2	181013285	nonsense	probably null
R3547:Col20a1	UTSW	2	180994911	missense	probably damaging	1.00
R3844:Col20a1	UTSW	2	180992449	missense	probably damaging	1.00
R4414:Col20a1	UTSW	2	181001250	missense	possibly damaging	0.92
R4711:Col20a1	UTSW	2	180992491	missense	probably damaging	1.00
R4760:Col20a1	UTSW	2	180984403	unclassified	probably benign
R4771:Col20a1	UTSW	2	180989124	missense	probably benign	0.17
R4809:Col20a1	UTSW	2	180998661	missense	probably damaging	1.00
R4872:Col20a1	UTSW	2	180997363	missense	possibly damaging	0.74
R5045:Col20a1	UTSW	2	181006845	missense	probably damaging	1.00
R5238:Col20a1	UTSW	2	180998586	missense	probably damaging	1.00
R5566:Col20a1	UTSW	2	180986523	splice site	probably null
R6389:Col20a1	UTSW	2	180992583	splice site	probably null
R6422:Col20a1	UTSW	2	181014819	missense	possibly damaging	0.75
R6924:Col20a1	UTSW	2	180996850	missense	probably damaging	1.00
R6982:Col20a1	UTSW	2	180996706	missense	probably benign	0.00
R7177:Col20a1	UTSW	2	180994214	nonsense	probably null
R7195:Col20a1	UTSW	2	181007231	missense	probably damaging	1.00
R7717:Col20a1	UTSW	2	181007615	missense	probably damaging	1.00
R7872:Col20a1	UTSW	2	180986578	missense	probably benign	0.14
R8183:Col20a1	UTSW	2	180998414	missense
R8188:Col20a1	UTSW	2	181016333	critical splice donor site	probably null
R8331:Col20a1	UTSW	2	180996766	missense	possibly damaging	0.95
R8423:Col20a1	UTSW	2	180998705	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTGCCACAATTCCCCTG -3'
(R):5'- AGATACTCACAGGTCCTGGC -3'

Sequencing Primer
(F):5'- GTGCCACAATTCCCCTGAGATTC -3'
(R):5'- ATGCTCTGGACCTCGCTG -3'

Posted On

2015-04-17