Mutagenetix > Incidental Mutations

Incidental Mutation 'R0001:Col20a1'

32223

Institutional Source

Beutler Lab

Gene Symbol

Col20a1

Ensembl Gene

ENSMUSG00000016356

Gene Name

collagen, type XX, alpha 1

Synonyms

1700051I12Rik

MMRRC Submission

038297-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0001 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

180986535-181018363 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 180984412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029092] [ENSMUST00000108856] [ENSMUST00000108859] [ENSMUST00000108860] [ENSMUST00000108861] [ENSMUST00000108862] [ENSMUST00000149179] [ENSMUST00000184394] [ENSMUST00000185115] [ENSMUST00000228434]

AlphaFold

Q923P0

Predicted Effect

probably benign
Transcript: ENSMUST00000029092

SMART Domains

Protein: ENSMUSP00000029092
Gene: ENSMUSG00000027575

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	310	327	N/A	INTRINSIC
low complexity region	334	347	N/A	INTRINSIC
low complexity region	359	392	N/A	INTRINSIC
low complexity region	394	401	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000094214

SMART Domains

Protein: ENSMUSP00000091767
Gene: ENSMUSG00000070461

Domain	Start	End	E-Value	Type
low complexity region	107	120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108856

SMART Domains

Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356

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: ENSMUST00000108859

SMART Domains

Protein: ENSMUSP00000104487
Gene: ENSMUSG00000027575

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	288	305	N/A	INTRINSIC
low complexity region	312	325	N/A	INTRINSIC
low complexity region	337	370	N/A	INTRINSIC
low complexity region	372	379	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108860

SMART Domains

Protein: ENSMUSP00000104488
Gene: ENSMUSG00000027575

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	288	305	N/A	INTRINSIC
low complexity region	312	325	N/A	INTRINSIC
low complexity region	337	370	N/A	INTRINSIC
low complexity region	372	379	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108861

SMART Domains

Protein: ENSMUSP00000104489
Gene: ENSMUSG00000027575

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	290	307	N/A	INTRINSIC
low complexity region	314	327	N/A	INTRINSIC
low complexity region	339	372	N/A	INTRINSIC
low complexity region	374	381	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108862

SMART Domains

Protein: ENSMUSP00000104490
Gene: ENSMUSG00000027575

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	290	307	N/A	INTRINSIC
low complexity region	314	327	N/A	INTRINSIC
low complexity region	339	372	N/A	INTRINSIC
low complexity region	374	381	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148908

Predicted Effect

probably benign
Transcript: ENSMUST00000149179

SMART Domains

Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356

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: ENSMUST00000184394

SMART Domains

Protein: ENSMUSP00000138843
Gene: ENSMUSG00000027575

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	298	315	N/A	INTRINSIC
low complexity region	322	335	N/A	INTRINSIC
low complexity region	347	380	N/A	INTRINSIC
low complexity region	382	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185115

SMART Domains

Protein: ENSMUSP00000139222
Gene: ENSMUSG00000027575

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	320	337	N/A	INTRINSIC
low complexity region	344	357	N/A	INTRINSIC
low complexity region	369	402	N/A	INTRINSIC
low complexity region	404	411	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189441

Predicted Effect

probably benign
Transcript: ENSMUST00000228434

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	G	A	19: 58,789,171	A61V	probably damaging	Het
2900092C05Rik	T	A	7: 12,554,607		probably benign	Het
A4galt	A	G	15: 83,228,289	F98L	probably benign	Het
Abca4	T	G	3: 122,081,011		probably benign	Het
Acacb	C	T	5: 114,204,833		probably benign	Het
Agbl1	A	T	7: 76,419,863	H367L	probably damaging	Het
Apoa4	C	A	9: 46,242,892	Q264K	probably benign	Het
Camsap2	A	T	1: 136,282,888		probably benign	Het
Cdan1	C	A	2: 120,723,751	R939L	probably benign	Het
Ceacam18	G	A	7: 43,636,876	V58I	possibly damaging	Het
Ciita	A	T	16: 10,514,433		probably benign	Het
Clk4	T	A	11: 51,268,765		probably benign	Het
Cntnap2	T	C	6: 46,530,171	D215G	probably benign	Het
Col11a2	T	C	17: 34,061,612	S1218P	probably benign	Het
Ctsb	A	G	14: 63,135,622	E76G	probably benign	Het
Ctu2	T	C	8: 122,478,920	C161R	probably benign	Het
Dhx29	T	C	13: 112,964,556	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,462,636	T759K	probably damaging	Het
Dmxl1	T	C	18: 49,888,897		probably benign	Het
Dpysl3	C	T	18: 43,358,375	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,168,127	K453*	probably null	Het
Epha7	T	C	4: 28,961,279		probably benign	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fat3	T	C	9: 16,377,873	D118G	probably damaging	Het
Foxn4	T	A	5: 114,260,870	Q159L	probably damaging	Het
Frs2	G	T	10: 117,074,876	H194N	possibly damaging	Het
Fut8	A	T	12: 77,475,315	*576L	probably null	Het
Galns	T	C	8: 122,595,883		probably benign	Het
Gamt	G	A	10: 80,259,061		probably benign	Het
Gpn1	T	A	5: 31,495,617		probably benign	Het
Ipcef1	G	T	10: 6,900,600	H330Q	probably damaging	Het
Itga4	A	C	2: 79,326,587	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,282,387	I229V	probably benign	Het
Katnal1	A	G	5: 148,921,275	S42P	probably damaging	Het
Kcnu1	A	T	8: 25,859,270	D142V	probably damaging	Het
Lig3	C	T	11: 82,790,591	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,388,956	S344G	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,460,839		probably benign	Het
Mki67	C	T	7: 135,699,172	V1378M	probably damaging	Het
Mki67	T	A	7: 135,701,019	D762V	probably damaging	Het
Mmp9	A	G	2: 164,948,383	T43A	probably benign	Het
Muc6	T	C	7: 141,641,574	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,214,650		probably null	Het
Naip5	C	A	13: 100,223,114	S538I	probably benign	Het
Nek3	A	T	8: 22,158,612		probably benign	Het
Nlrp1b	A	G	11: 71,161,759	S948P	probably damaging	Het
Nyap2	A	T	1: 81,192,107	H193L	probably benign	Het
Olfr1413	A	G	1: 92,573,461	K97E	possibly damaging	Het
Olfr648	T	A	7: 104,179,473	K312*	probably null	Het
Patl2	G	A	2: 122,125,710		probably benign	Het
Pcdhb11	A	T	18: 37,423,989	R791W	probably benign	Het
Pkd1l3	C	A	8: 109,628,633		probably benign	Het
Pkn2	A	T	3: 142,828,988	V73D	probably benign	Het
Pknox1	A	T	17: 31,599,636	H281L	probably damaging	Het
Polr3a	A	G	14: 24,452,189		probably benign	Het
Prss38	A	G	11: 59,373,180		probably benign	Het
Rad54l2	A	G	9: 106,708,217	F783S	probably damaging	Het
Rbm5	T	C	9: 107,742,424	R125G	probably damaging	Het
Rnpep	A	G	1: 135,272,485		probably benign	Het
Slc1a5	T	A	7: 16,793,637		probably null	Het
Slc22a4	G	A	11: 54,028,003		probably benign	Het
Spink12	T	C	18: 44,107,696	C50R	probably damaging	Het
Svep1	G	A	4: 58,066,460	T3208I	possibly damaging	Het
Tgm5	G	T	2: 121,077,646	D16E	probably damaging	Het
Tpp2	A	G	1: 43,971,726	N558D	probably benign	Het
Trappc9	A	T	15: 72,963,662	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,715,331	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,776,972		probably benign	Het
Ttn	G	A	2: 76,832,089		probably benign	Het
Ubr4	T	A	4: 139,451,788	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,574,655	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps39	A	G	2: 120,318,053	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,600,909	D149G	probably benign	Het
Zfp648	C	T	1: 154,205,286	T397M	probably damaging	Het
Zic2	C	A	14: 122,478,957	T435K	probably 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
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
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
R8803:Col20a1	UTSW	2	181001338	missense	possibly damaging	0.75
R8849:Col20a1	UTSW	2	180998639	missense	probably damaging	1.00
R8855:Col20a1	UTSW	2	181013891	missense
R8885:Col20a1	UTSW	2	180998503	splice site	probably benign
R9160:Col20a1	UTSW	2	180999745	missense	probably benign
R9223:Col20a1	UTSW	2	181006735	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTATCCCCTACTGTCAGGCTGTG -3'
(R):5'- GCTCTCAATGAAGCTCTCGTGATCC -3'

Sequencing Primer
(F):5'- ACATGCCATTGCTAGGTACAG -3'
(R):5'- ATGAAGCTCTCGTGATCCATCTTG -3'

Posted On

2013-05-09