Mutagenetix > Incidental Mutation

Incidental Mutation 'R3844:Col20a1'

277267

Institutional Source

Beutler Lab

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 #

R3844 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180628328-180660156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180634242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 69 (E69G)

Ref Sequence

ENSEMBL: ENSMUSP00000104484 (fasta)

Gene Model

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

AlphaFold

Q923P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000108856
AA Change: E69G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: E69G

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 damaging
Transcript: ENSMUST00000149179
AA Change: E69G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: E69G

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

possibly damaging
Transcript: ENSMUST00000228434
AA Change: E69G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	A	T	11: 6,150,032 (GRCm39)	R2*	probably null	Het
Acaca	T	A	11: 84,255,239 (GRCm39)	D1932E	probably damaging	Het
Adam5	T	A	8: 25,303,426 (GRCm39)	D167V	probably benign	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Aqp11	T	A	7: 97,387,046 (GRCm39)	E50V	probably damaging	Het
Arid4b	C	T	13: 14,361,645 (GRCm39)	S703L	probably damaging	Het
Ccl25	T	G	8: 4,404,183 (GRCm39)	V179G	possibly damaging	Het
Clk2	A	G	3: 89,077,710 (GRCm39)	N222S	probably benign	Het
Col13a1	C	T	10: 61,685,988 (GRCm39)	G668D	unknown	Het
Dcc	G	A	18: 71,959,257 (GRCm39)	H172Y	probably benign	Het
Dock8	T	G	19: 25,042,794 (GRCm39)	Y125*	probably null	Het
E2f1	A	G	2: 154,402,748 (GRCm39)	S340P	probably benign	Het
Fars2	T	C	13: 36,389,084 (GRCm39)	F191S	probably damaging	Het
Filip1l	T	C	16: 57,392,790 (GRCm39)	V888A	probably benign	Het
Fn1	T	A	1: 71,648,733 (GRCm39)	H1392L	possibly damaging	Het
Fsip2	C	T	2: 82,819,950 (GRCm39)	H5228Y	possibly damaging	Het
Galnt14	A	G	17: 74,016,924 (GRCm39)		probably null	Het
Grm8	A	T	6: 27,429,507 (GRCm39)	N462K	possibly damaging	Het
Ireb2	A	G	9: 54,799,789 (GRCm39)	E410G	probably damaging	Het
Kdm2b	A	T	5: 123,072,856 (GRCm39)	Y341N	probably damaging	Het
Kdm7a	T	A	6: 39,158,513 (GRCm39)	I77F	probably damaging	Het
Klhl11	A	T	11: 100,363,133 (GRCm39)	M141K	possibly damaging	Het
Lactbl1	A	G	4: 136,365,271 (GRCm39)	H541R	possibly damaging	Het
Mylk	A	G	16: 34,742,247 (GRCm39)	M920V	probably benign	Het
Or2w1b	A	G	13: 21,300,233 (GRCm39)	T124A	possibly damaging	Het
Piwil4	T	A	9: 14,641,256 (GRCm39)	T179S	possibly damaging	Het
Ranbp2	T	C	10: 58,313,717 (GRCm39)	L1479P	possibly damaging	Het
Rpl3l	A	G	17: 24,952,916 (GRCm39)	H292R	probably benign	Het
Rps6ka4	C	A	19: 6,815,171 (GRCm39)	E202*	probably null	Het
Rsph14	T	C	10: 74,867,107 (GRCm39)	D13G	possibly damaging	Het
Sri	A	G	5: 8,114,576 (GRCm39)	D177G	probably damaging	Het
Tenm2	A	G	11: 35,938,365 (GRCm39)	V1437A	probably damaging	Het
Tiam2	A	G	17: 3,471,926 (GRCm39)	R523G	probably damaging	Het
Tm9sf3	A	T	19: 41,205,555 (GRCm39)	L561M	possibly damaging	Het
Tnrc6c	G	T	11: 117,646,309 (GRCm39)	D1417Y	probably damaging	Het
Ubr4	C	T	4: 139,186,437 (GRCm39)	S648L	probably damaging	Het
Zfp827	T	A	8: 79,863,248 (GRCm39)	L69Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGCACATTCACCTATCAACATG -3'
(R):5'- TCACAGGCAAAGTGCTTCAG -3'

Sequencing Primer
(F):5'- CACTCCATGTGTACATATGTATGCAG -3'
(R):5'- TGCTTCAGGGCACAAGC -3'

Posted On

2015-04-06