Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01388:Col20a1'

79119

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 #

IGL01388

Quality Score

Status

Chromosome

Chromosomal Location

180628328-180660156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180645264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 924 (M924K)

Ref Sequence

ENSEMBL: ENSMUSP00000104484 (fasta)

Gene Model

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

AlphaFold

Q923P0

Predicted Effect

probably benign
Transcript: ENSMUST00000108856
AA Change: M924K

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: M924K

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: M882K

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: M882K

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: M882K

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	T	G	17: 68,160,034 (GRCm39)		probably benign	Het
Ces2b	A	C	8: 105,561,236 (GRCm39)		probably benign	Het
Commd4	G	A	9: 57,063,273 (GRCm39)		probably benign	Het
Ctnna3	A	G	10: 63,339,886 (GRCm39)	E24G	possibly damaging	Het
Cyp2a22	C	T	7: 26,637,217 (GRCm39)	R189H	probably benign	Het
Gapdhrt	T	C	14: 11,281,836 (GRCm38)	D33G	probably damaging	Het
Gm20426	T	C	6: 90,155,694 (GRCm39)		probably benign	Het
Gm6802	T	G	12: 19,540,546 (GRCm39)		noncoding transcript	Het
Igkv8-21	A	G	6: 70,292,153 (GRCm39)	S30P	probably benign	Het
Lig4	A	G	8: 10,023,586 (GRCm39)	Y65H	probably damaging	Het
Mpzl1	T	C	1: 165,433,336 (GRCm39)	D105G	probably benign	Het
Myo10	A	G	15: 25,736,703 (GRCm39)	I451V	possibly damaging	Het
Nos2	G	T	11: 78,848,278 (GRCm39)	V1062L	probably damaging	Het
Oas2	A	G	5: 120,886,657 (GRCm39)	S170P	probably damaging	Het
Or1j19	G	T	2: 36,677,367 (GRCm39)	V277L	probably benign	Het
Or5w11	T	A	2: 87,458,973 (GRCm39)	H55Q	probably benign	Het
Or8b3b	A	T	9: 38,584,379 (GRCm39)	Y120*	probably null	Het
Or8g37	A	G	9: 39,731,298 (GRCm39)	D121G	probably damaging	Het
Pcdh7	T	C	5: 57,877,546 (GRCm39)	L367P	probably damaging	Het
Pde3a	A	G	6: 141,405,464 (GRCm39)	T439A	probably damaging	Het
Plekhm2	T	C	4: 141,369,312 (GRCm39)	Y124C	probably damaging	Het
Ppp4r4	T	A	12: 103,543,108 (GRCm39)	W155R	probably damaging	Het
Prl7c1	C	A	13: 27,960,198 (GRCm39)	A115S	probably damaging	Het
Psg25	T	C	7: 18,263,590 (GRCm39)	I78V	possibly damaging	Het
Ptpn9	T	A	9: 56,944,002 (GRCm39)	V292E	probably benign	Het
Ptprs	G	A	17: 56,728,261 (GRCm39)	R908C	probably damaging	Het
Rps6ka1	C	T	4: 133,599,275 (GRCm39)	V51I	probably damaging	Het
Scube1	T	C	15: 83,504,332 (GRCm39)	I492V	probably benign	Het
Trappc2	G	A	X: 165,232,775 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,187,554 (GRCm39)	V739A	possibly damaging	Het
Unc79	T	C	12: 103,136,018 (GRCm39)		probably benign	Het
Vmn2r27	G	A	6: 124,200,791 (GRCm39)	P389S	possibly damaging	Het
Wipi2	T	A	5: 142,646,798 (GRCm39)	F212I	possibly 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
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
IGL02898:Col20a1	APN	2	180,630,905 (GRCm39)	nonsense	probably null
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

2013-11-05