Mutagenetix > Incidental Mutations

Incidental Mutation 'R3153:Col20a1'

264446

Institutional Source

Beutler Lab

Gene Symbol

Col20a1

Ensembl Gene

ENSMUSG00000016356

Gene Name

collagen, type XX, alpha 1

Synonyms

1700051I12Rik

MMRRC Submission

040604-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3153 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

180986535-181018363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 181008593 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1074 (P1074L)

Ref Sequence

ENSEMBL: ENSMUSP00000115291 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108856
AA Change: P1116L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: P1116L

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: P1074L

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

SMART Domains

Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: P1074L

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: ENSMUST00000155425

SMART Domains

Protein: ENSMUSP00000114654
Gene: ENSMUSG00000016356

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	55	4.9e-12	PFAM
Pfam:Collagen	36	94	2.2e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000228434
AA Change: P1074L

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,440,824	N200H	probably damaging	Het
Abca17	T	A	17: 24,328,746	D218V	probably damaging	Het
Abhd12	A	G	2: 150,834,355	F361L	probably benign	Het
Abr	A	T	11: 76,486,469	I59N	probably damaging	Het
Agbl1	A	G	7: 76,720,196	E681G	probably damaging	Het
B3gnt4	G	T	5: 123,510,653	R27L	probably benign	Het
Cct8l1	A	C	5: 25,517,139	E284A	probably damaging	Het
Chd7	T	A	4: 8,855,174	N2134K	probably benign	Het
Chrna3	C	T	9: 55,016,050	C158Y	probably damaging	Het
Cndp2	C	A	18: 84,668,597	M433I	probably benign	Het
Cnnm3	T	A	1: 36,521,222	S608T	probably damaging	Het
Cnot1	T	C	8: 95,744,278	E1314G	possibly damaging	Het
Coq6	G	A	12: 84,371,535	V298M	probably damaging	Het
Cpt1a	A	G	19: 3,356,430	Y132C	probably damaging	Het
Dcdc2a	A	C	13: 25,102,357	I125L	probably benign	Het
Eps8l1	A	T	7: 4,471,799	I321F	probably damaging	Het
Fancd2	A	G	6: 113,593,269	S1394G	possibly damaging	Het
Fcrl5	T	C	3: 87,443,680	F166L	probably benign	Het
Gatc	T	C	5: 115,335,487	E131G	probably benign	Het
Gpld1	T	C	13: 24,943,620	S2P	unknown	Het
Gprc5b	G	A	7: 118,976,547	P385L	probably damaging	Het
Gsc2	G	A	16: 17,914,500	R137W	probably damaging	Het
Hsd3b1	T	C	3: 98,852,664	D337G	probably damaging	Het
Ireb2	T	C	9: 54,885,946		probably null	Het
Kank1	T	A	19: 25,410,688	V575E	possibly damaging	Het
Kcnmb1	A	T	11: 33,966,339	D95V	probably damaging	Het
L3mbtl4	T	A	17: 68,457,248	Y125*	probably null	Het
Lce1h	C	T	3: 92,763,675	G57R	unknown	Het
Lgalsl	A	G	11: 20,826,487	F135S	probably damaging	Het
Lrba	A	G	3: 86,285,219	M147V	probably damaging	Het
Mdm2	T	C	10: 117,709,713	E23G	possibly damaging	Het
Mthfd1	C	A	12: 76,311,963	Q67K	probably benign	Het
Mtus2	T	C	5: 148,083,060	L755P	probably damaging	Het
Olfr1026	T	C	2: 85,923,730	V154A	probably benign	Het
Orc3	A	G	4: 34,575,124	F587L	probably damaging	Het
Pcdhb7	C	T	18: 37,343,073	P421S	probably damaging	Het
Pgk2	T	A	17: 40,208,243	D98V	probably damaging	Het
Pkd1l1	A	C	11: 8,867,207	S1364A	probably benign	Het
Rin3	A	C	12: 102,368,541	E157A	unknown	Het
Rnf126	A	T	10: 79,761,631	I149N	probably damaging	Het
Rph3a	T	C	5: 120,973,377	T47A	probably damaging	Het
Sap18	T	C	14: 57,801,945	M68T	probably benign	Het
Sfrp2	A	G	3: 83,773,270	T246A	probably benign	Het
Slc18a3	A	G	14: 32,463,271	V385A	probably benign	Het
Slitrk3	C	T	3: 73,048,982	W819*	probably null	Het
Smap1	A	T	1: 23,853,549	D111E	probably damaging	Het
Spesp1	G	A	9: 62,282,094		probably benign	Het
Styk1	A	T	6: 131,310,012	Y84*	probably null	Het
Sv2a	T	A	3: 96,185,258	D91E	possibly damaging	Het
Tbc1d5	A	G	17: 50,968,236	I77T	probably damaging	Het
Trim10	T	A	17: 36,871,688	C149S	probably damaging	Het
Zbtb38	T	C	9: 96,688,249	K261E	probably benign	Het
Zfp202	T	C	9: 40,208,438	L179P	probably benign	Het
Zkscan5	T	A	5: 145,212,627	S251R	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGCACACTCAGGACTTG -3'
(R):5'- CTGATAGCCACAGAGGAAACCTG -3'

Sequencing Primer
(F):5'- ATGACTCTAGAGGTCTCCTGGAATC -3'
(R):5'- AAACCTGAGGACGCCTGC -3'

Posted On

2015-02-05