Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02898:Col20a1'

363486

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col20a1

Ensembl Gene

ENSMUSG00000016356

Gene Name

collagen, type XX, alpha 1

Synonyms

1700051I12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02898

Quality Score

Status

Chromosome

Chromosomal Location

180628328-180660156 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 180630905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 58 (Q58*)

Ref Sequence

ENSEMBL: ENSMUSP00000153871 (fasta)

Gene Model

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

AlphaFold

Q923P0

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 null
Transcript: ENSMUST00000108856
AA Change: Q58*

SMART Domains

Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: Q58*

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 null
Transcript: ENSMUST00000149179
AA Change: Q58*

SMART Domains

Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: Q58*

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

noncoding transcript
Transcript: ENSMUST00000189441

Predicted Effect

probably null
Transcript: ENSMUST00000228434
AA Change: Q58*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,178,065 (GRCm39)		probably benign	Het
Brd3	A	G	2: 27,349,753 (GRCm39)	S267P	possibly damaging	Het
Btaf1	A	G	19: 36,946,468 (GRCm39)	T425A	probably benign	Het
Caskin1	A	T	17: 24,721,383 (GRCm39)	E544D	probably benign	Het
Eif2ak1	G	A	5: 143,826,270 (GRCm39)	V428I	probably damaging	Het
Fez2	A	G	17: 78,692,184 (GRCm39)	I345T	probably benign	Het
Focad	A	T	4: 88,310,234 (GRCm39)	M1388L	probably benign	Het
Gfer	T	C	17: 24,914,921 (GRCm39)	R41G	probably benign	Het
Gm9956	C	T	10: 56,621,350 (GRCm39)	S4L	unknown	Het
Krtap6-1	G	A	16: 88,828,643 (GRCm39)	G13D	unknown	Het
Megf8	A	G	7: 25,045,933 (GRCm39)	E1492G	possibly damaging	Het
Myh7	T	C	14: 55,221,197 (GRCm39)	I909V	probably damaging	Het
Or11g25	T	A	14: 50,723,643 (GRCm39)	S243T	probably damaging	Het
Or1e21	T	A	11: 73,344,561 (GRCm39)	H159L	probably damaging	Het
Otog	A	G	7: 45,959,562 (GRCm39)	E717G	probably damaging	Het
Pik3r4	A	G	9: 105,527,605 (GRCm39)	I319M	probably benign	Het
Piwil4	A	T	9: 14,617,583 (GRCm39)		probably benign	Het
Plekho1	T	A	3: 95,899,493 (GRCm39)	H100L	probably damaging	Het
Prr30	T	G	14: 101,435,917 (GRCm39)	D215A	probably benign	Het
Prss52	C	T	14: 64,351,115 (GRCm39)	A300V	possibly damaging	Het
Ralgps2	C	A	1: 156,645,314 (GRCm39)	K514N	probably benign	Het
Robo4	T	C	9: 37,319,472 (GRCm39)	I463T	probably damaging	Het
Sars1	A	T	3: 108,336,579 (GRCm39)	F268Y	probably damaging	Het
Sidt1	C	T	16: 44,102,858 (GRCm39)	R289Q	possibly damaging	Het
Slco1a8	T	A	6: 141,940,023 (GRCm39)	Y140F	probably benign	Het
Slco2a1	T	C	9: 102,956,805 (GRCm39)	V539A	probably damaging	Het
Snrnp200	A	G	2: 127,058,676 (GRCm39)		probably benign	Het
Spag17	A	G	3: 100,008,702 (GRCm39)	D1944G	probably benign	Het
Spata1	C	T	3: 146,181,094 (GRCm39)	R288Q	possibly damaging	Het
Tatdn3	T	C	1: 190,778,507 (GRCm39)	*233W	probably null	Het
Ttc3	T	A	16: 94,220,285 (GRCm39)	V536E	probably damaging	Het
V1rd19	A	C	7: 23,702,854 (GRCm39)	T107P	probably damaging	Het

Other mutations in Col20a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Col20a1	APN	2	180,645,272 (GRCm39)	missense	possibly damaging	0.93
IGL00975:Col20a1	APN	2	180,634,271 (GRCm39)	missense	probably damaging	1.00
IGL01094:Col20a1	APN	2	180,641,559 (GRCm39)	missense	probably damaging	0.99
IGL01388:Col20a1	APN	2	180,645,264 (GRCm39)	missense	probably benign	0.24
IGL01472:Col20a1	APN	2	180,649,625 (GRCm39)	missense	probably benign	0.44
IGL01936:Col20a1	APN	2	180,651,161 (GRCm39)	splice site	probably benign
IGL02133:Col20a1	APN	2	180,648,937 (GRCm39)	missense	probably damaging	1.00
IGL02318:Col20a1	APN	2	180,648,952 (GRCm39)	missense	probably damaging	0.99
IGL02576:Col20a1	APN	2	180,655,198 (GRCm39)	nonsense	probably null
IGL02822:Col20a1	APN	2	180,638,600 (GRCm39)	missense	probably damaging	1.00
IGL03056:Col20a1	APN	2	180,636,682 (GRCm39)	missense	probably damaging	1.00
IGL03189:Col20a1	APN	2	180,651,200 (GRCm39)	nonsense	probably null
IGL03196:Col20a1	APN	2	180,649,671 (GRCm39)	splice site	probably null
R0001:Col20a1	UTSW	2	180,626,205 (GRCm39)	unclassified	probably benign
R0200:Col20a1	UTSW	2	180,642,231 (GRCm39)	missense	probably damaging	1.00
R0384:Col20a1	UTSW	2	180,640,955 (GRCm39)	missense	probably benign	0.00
R0964:Col20a1	UTSW	2	180,626,278 (GRCm39)	unclassified	probably benign
R0975:Col20a1	UTSW	2	180,648,619 (GRCm39)	missense	possibly damaging	0.75
R1359:Col20a1	UTSW	2	180,641,585 (GRCm39)	missense	probably benign	0.02
R1395:Col20a1	UTSW	2	180,640,400 (GRCm39)	missense	probably damaging	0.99
R1470:Col20a1	UTSW	2	180,636,753 (GRCm39)	missense	probably benign	0.01
R1470:Col20a1	UTSW	2	180,636,753 (GRCm39)	missense	probably benign	0.01
R1508:Col20a1	UTSW	2	180,634,370 (GRCm39)	missense	probably damaging	0.98
R1865:Col20a1	UTSW	2	180,657,606 (GRCm39)	missense	possibly damaging	0.87
R1883:Col20a1	UTSW	2	180,634,703 (GRCm39)	missense	possibly damaging	0.52
R1884:Col20a1	UTSW	2	180,634,703 (GRCm39)	missense	possibly damaging	0.52
R1906:Col20a1	UTSW	2	180,640,490 (GRCm39)	missense	probably benign	0.00
R2020:Col20a1	UTSW	2	180,654,956 (GRCm39)	critical splice donor site	probably null
R2121:Col20a1	UTSW	2	180,638,249 (GRCm39)	missense	probably damaging	0.99
R2131:Col20a1	UTSW	2	180,634,366 (GRCm39)	missense	probably damaging	1.00
R2343:Col20a1	UTSW	2	180,643,124 (GRCm39)	missense	possibly damaging	0.73
R3153:Col20a1	UTSW	2	180,650,386 (GRCm39)	missense	probably damaging	1.00
R3430:Col20a1	UTSW	2	180,655,078 (GRCm39)	nonsense	probably null
R3547:Col20a1	UTSW	2	180,636,704 (GRCm39)	missense	probably damaging	1.00
R3844:Col20a1	UTSW	2	180,634,242 (GRCm39)	missense	probably damaging	1.00
R3914:Col20a1	UTSW	2	180,640,285 (GRCm39)	missense	probably benign	0.00
R4414:Col20a1	UTSW	2	180,643,043 (GRCm39)	missense	possibly damaging	0.92
R4711:Col20a1	UTSW	2	180,634,284 (GRCm39)	missense	probably damaging	1.00
R4760:Col20a1	UTSW	2	180,626,196 (GRCm39)	unclassified	probably benign
R4771:Col20a1	UTSW	2	180,630,917 (GRCm39)	missense	probably benign	0.17
R4809:Col20a1	UTSW	2	180,640,454 (GRCm39)	missense	probably damaging	1.00
R4872:Col20a1	UTSW	2	180,639,156 (GRCm39)	missense	possibly damaging	0.74
R5045:Col20a1	UTSW	2	180,648,638 (GRCm39)	missense	probably damaging	1.00
R5238:Col20a1	UTSW	2	180,640,379 (GRCm39)	missense	probably damaging	1.00
R5566:Col20a1	UTSW	2	180,628,316 (GRCm39)	splice site	probably null
R6389:Col20a1	UTSW	2	180,634,376 (GRCm39)	splice site	probably null
R6422:Col20a1	UTSW	2	180,656,612 (GRCm39)	missense	possibly damaging	0.75
R6924:Col20a1	UTSW	2	180,638,643 (GRCm39)	missense	probably damaging	1.00
R6982:Col20a1	UTSW	2	180,638,499 (GRCm39)	missense	probably benign	0.00
R7177:Col20a1	UTSW	2	180,636,007 (GRCm39)	nonsense	probably null
R7195:Col20a1	UTSW	2	180,649,024 (GRCm39)	missense	probably damaging	1.00
R7717:Col20a1	UTSW	2	180,649,408 (GRCm39)	missense	probably damaging	1.00
R7872:Col20a1	UTSW	2	180,628,371 (GRCm39)	missense	probably benign	0.14
R8183:Col20a1	UTSW	2	180,640,207 (GRCm39)	missense
R8188:Col20a1	UTSW	2	180,658,126 (GRCm39)	critical splice donor site	probably null
R8331:Col20a1	UTSW	2	180,638,559 (GRCm39)	missense	possibly damaging	0.95
R8423:Col20a1	UTSW	2	180,640,498 (GRCm39)	missense	probably damaging	1.00
R8803:Col20a1	UTSW	2	180,643,131 (GRCm39)	missense	possibly damaging	0.75
R8849:Col20a1	UTSW	2	180,640,432 (GRCm39)	missense	probably damaging	1.00
R8855:Col20a1	UTSW	2	180,655,684 (GRCm39)	missense
R8885:Col20a1	UTSW	2	180,640,296 (GRCm39)	splice site	probably benign
R9160:Col20a1	UTSW	2	180,641,538 (GRCm39)	missense	probably benign
R9223:Col20a1	UTSW	2	180,648,528 (GRCm39)	missense	probably damaging	1.00
R9697:Col20a1	UTSW	2	180,641,577 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18