Mutagenetix > Incidental Mutations

Incidental Mutation 'R5238:Col20a1'

486800

Institutional Source

Beutler Lab

Gene Symbol

Col20a1

Ensembl Gene

ENSMUSG00000016356

Gene Name

collagen, type XX, alpha 1

Synonyms

1700051I12Rik

MMRRC Submission

042809-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5238 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180986535-181018363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180998586 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 512 (V512A)

Ref Sequence

ENSEMBL: ENSMUSP00000153871 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108856
AA Change: V554A

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

SMART Domains

Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: V554A

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

possibly damaging
Transcript: ENSMUST00000149179
AA Change: V512A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: V512A

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 damaging
Transcript: ENSMUST00000228434
AA Change: V512A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,163,368		probably null	Het
Adamtsl5	C	T	10: 80,345,358	G63D	probably damaging	Het
Armc9	T	A	1: 86,199,847	M68K	probably benign	Het
Atad2	A	C	15: 58,108,337	H381Q	possibly damaging	Het
Bclaf1	T	G	10: 20,332,384		probably benign	Het
Cbwd1	G	T	19: 24,920,630	T382K	probably damaging	Het
Ccdc188	A	G	16: 18,219,174	E238G	probably damaging	Het
Cldn19	G	T	4: 119,255,733	C54F	probably damaging	Het
Clip1	T	C	5: 123,647,883	D246G	probably damaging	Het
Cyfip1	G	T	7: 55,892,031	A355S	probably benign	Het
Dffa	T	G	4: 149,104,303	L18R	probably benign	Het
Dnah8	G	A	17: 30,790,917	E3761K	probably damaging	Het
Dusp10	A	G	1: 184,037,013	T59A	possibly damaging	Het
Eed	T	C	7: 89,976,965	S67G	probably benign	Het
Fam181a	C	T	12: 103,316,133	A99V	probably benign	Het
Gm12185	G	A	11: 48,908,217	T483I	possibly damaging	Het
Htr3b	A	T	9: 48,937,242	C234*	probably null	Het
Kidins220	C	A	12: 25,003,010	T433K	probably benign	Het
Man2a1	T	C	17: 64,636,507	Y186H	probably damaging	Het
Mcm9	G	T	10: 53,629,997	S60R	possibly damaging	Het
Mst1r	T	A	9: 107,907,574	C144S	probably damaging	Het
Nckap5	A	G	1: 126,027,724	C364R	probably damaging	Het
Nptx2	T	C	5: 144,556,231	I376T	probably damaging	Het
Olfr237-ps1	T	C	6: 43,154,027	S241P	probably damaging	Het
Otogl	A	T	10: 107,768,973	C2191S	probably damaging	Het
Plxdc2	T	A	2: 16,650,215	F208L	probably damaging	Het
Robo3	A	C	9: 37,416,879	Y1339D	probably damaging	Het
Rsph9	G	T	17: 46,135,082	Y42*	probably null	Het
Slc39a1	T	A	3: 90,249,395	L86Q	probably null	Het
Slfn8	T	C	11: 83,013,388	D392G	probably damaging	Het
Tiprl	A	G	1: 165,215,768	V263A	probably benign	Het
Tmub2	A	G	11: 102,284,994		probably benign	Het
Trpm1	T	A	7: 64,268,954	F681I	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Uba3	A	T	6: 97,201,935	C68*	probably null	Het
Vmn1r158	T	A	7: 22,790,374	M137L	probably benign	Het
Vmn1r50	C	T	6: 90,107,483	A70V	possibly damaging	Het
Wwc1	T	C	11: 35,875,896	K511E	probably benign	Het
Zfp600	T	C	4: 146,195,171		probably null	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
R3914:Col20a1	UTSW	2	180998492	missense	probably benign	0.00
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
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'- AGAACTCTCCACGTCACCTG -3'
(R):5'- AGGGTTATCTGTGGTCTCCC -3'

Sequencing Primer
(F):5'- GTCACCTGGCCGCCCTC -3'
(R):5'- TGGGAATTGAATGACTCCCC -3'

Posted On

2017-08-17