Mutagenetix > Incidental Mutation

Incidental Mutation 'R1883:Col20a1'

209226

Institutional Source

Beutler Lab

Gene Symbol

Col20a1

Ensembl Gene

ENSMUSG00000016356

Gene Name

collagen, type XX, alpha 1

Synonyms

1700051I12Rik

MMRRC Submission

039904-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180628328-180660156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 180634703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 131 (T131I)

Ref Sequence

ENSEMBL: ENSMUSP00000153871 (fasta)

Gene Model

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

AlphaFold

Q923P0

Predicted Effect

probably benign
Transcript: ENSMUST00000108856
AA Change: T131I

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: T131I

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: T131I

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: T131I

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: T131I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	T	C	7: 140,682,244 (GRCm39)	E677G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bhmt1b	T	C	18: 87,774,669 (GRCm39)	L64P	probably damaging	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Capn9	A	G	8: 125,338,297 (GRCm39)	K552R	probably benign	Het
Catsperg1	C	T	7: 28,881,661 (GRCm39)		probably null	Het
Cdc16	A	G	8: 13,825,738 (GRCm39)	N449D	probably damaging	Het
Cdyl2	A	T	8: 117,321,902 (GRCm39)	N208K	probably damaging	Het
Cnot4	C	T	6: 35,055,092 (GRCm39)	V66I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Crybg2	C	A	4: 133,801,594 (GRCm39)	S918*	probably null	Het
Dact2	A	T	17: 14,418,085 (GRCm39)	S207T	possibly damaging	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx18	C	A	1: 121,495,645 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,328,905 (GRCm39)	H282Q	probably benign	Het
Dnah3	T	C	7: 119,677,142 (GRCm39)	D453G	probably benign	Het
Dst	T	C	1: 34,228,389 (GRCm39)	V1994A	possibly damaging	Het
Dusp8	C	T	7: 141,638,085 (GRCm39)		probably null	Het
Eipr1	A	T	12: 28,816,850 (GRCm39)	H69L	possibly damaging	Het
Eml1	A	G	12: 108,429,911 (GRCm39)	R65G	probably damaging	Het
Epha7	C	T	4: 28,950,362 (GRCm39)	H722Y	possibly damaging	Het
Epyc	A	T	10: 97,511,695 (GRCm39)	K229N	possibly damaging	Het
Extl1	A	G	4: 134,091,917 (GRCm39)	I312T	probably benign	Het
F13a1	G	C	13: 37,172,981 (GRCm39)	A133G	probably benign	Het
Fam185a	G	T	5: 21,630,242 (GRCm39)	C26F	possibly damaging	Het
Fam186b	T	C	15: 99,176,679 (GRCm39)	N737S	probably damaging	Het
Fam78b	A	G	1: 166,829,171 (GRCm39)	I13V	probably benign	Het
Fat1	A	T	8: 45,504,184 (GRCm39)	Q4559L	probably benign	Het
Fnip1	T	C	11: 54,406,373 (GRCm39)	S1157P	probably damaging	Het
Foxj3	A	C	4: 119,467,226 (GRCm39)	M190L	probably benign	Het
Heatr3	T	C	8: 88,871,221 (GRCm39)	Y192H	possibly damaging	Het
Hexd	T	A	11: 121,098,524 (GRCm39)	S3T	probably benign	Het
Klf3	C	T	5: 64,980,224 (GRCm39)	P5S	probably damaging	Het
Klf9	C	T	19: 23,142,101 (GRCm39)	S187L	probably damaging	Het
Krt9	T	C	11: 100,079,523 (GRCm39)	H623R	unknown	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lmtk3	T	C	7: 45,436,273 (GRCm39)	Y84H	probably damaging	Het
Mroh3	G	T	1: 136,134,731 (GRCm39)	A166D	probably damaging	Het
Musk	C	A	4: 58,373,189 (GRCm39)	P697T	probably benign	Het
Nek9	A	G	12: 85,379,330 (GRCm39)	L192P	probably damaging	Het
Nipbl	A	C	15: 8,356,616 (GRCm39)	F1590C	probably damaging	Het
Nrk	G	T	X: 137,907,922 (GRCm39)	V1455F	probably damaging	Het
Nsun3	T	C	16: 62,555,656 (GRCm39)	D290G	probably damaging	Het
Obscn	T	C	11: 58,969,029 (GRCm39)	T222A	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Or6b9	T	C	7: 106,555,981 (GRCm39)	H54R	probably benign	Het
Osbpl11	T	G	16: 33,034,723 (GRCm39)	H237Q	probably benign	Het
Pde10a	A	T	17: 9,197,776 (GRCm39)	T671S	possibly damaging	Het
Pkd2	A	T	5: 104,631,094 (GRCm39)	N506I	probably damaging	Het
Ppp3cb	A	G	14: 20,573,913 (GRCm39)	V274A	possibly damaging	Het
Prex1	T	C	2: 166,425,192 (GRCm39)	D938G	probably benign	Het
Ptch1	G	A	13: 63,659,841 (GRCm39)	Q1134*	probably null	Het
Rasgrf2	A	G	13: 92,117,149 (GRCm39)	V820A	probably benign	Het
Rimbp2	C	T	5: 128,880,998 (GRCm39)	V137M	possibly damaging	Het
Rpa1	A	G	11: 75,209,309 (GRCm39)	V137A	probably benign	Het
Rps6ka1	A	C	4: 133,591,354 (GRCm39)	I299S	probably damaging	Het
Scn3b	A	C	9: 40,190,669 (GRCm39)		probably null	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Snx14	T	A	9: 88,284,314 (GRCm39)	E451D	probably benign	Het
Spmip4	T	C	6: 50,551,433 (GRCm39)	T339A	probably benign	Het
Swt1	T	A	1: 151,299,284 (GRCm39)	K8*	probably null	Het
Tas1r3	G	T	4: 155,946,610 (GRCm39)	P332T	probably damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tecpr1	A	G	5: 144,143,347 (GRCm39)	V676A	probably benign	Het
Tg	A	G	15: 66,543,158 (GRCm39)	E24G	probably damaging	Het
Tlr7	C	T	X: 166,089,468 (GRCm39)	G673S	probably benign	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Trabd	A	G	15: 88,966,184 (GRCm39)	E47G	probably damaging	Het
Trim29	T	A	9: 43,222,702 (GRCm39)	I177N	probably damaging	Het
Ubxn2a	A	T	12: 4,944,563 (GRCm39)	L53*	probably null	Het
Ulk2	A	G	11: 61,721,438 (GRCm39)	L208P	probably damaging	Het
Unc80	G	A	1: 66,564,929 (GRCm39)	C872Y	possibly damaging	Het
Vac14	A	G	8: 111,438,319 (GRCm39)	H644R	probably damaging	Het
Vmn1r20	C	A	6: 57,409,306 (GRCm39)	H211N	probably benign	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps54	A	T	11: 21,262,967 (GRCm39)	T685S	possibly damaging	Het
Vwa5b1	A	G	4: 138,302,700 (GRCm39)	W932R	probably damaging	Het
Wdr53	A	T	16: 32,075,316 (GRCm39)	I174F	possibly damaging	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp60	T	C	7: 27,449,435 (GRCm39)	L701P	probably benign	Het
Zfp609	A	T	9: 65,702,040 (GRCm39)	M204K	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	possibly damaging	Het
Zfp995	A	T	17: 22,099,622 (GRCm39)	I204N	probably benign	Het
Zp2	C	T	7: 119,732,624 (GRCm39)	D641N	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCATCTTCCATGAGGCAGACAG -3'
(R):5'- TGAGTCCAGAAACACGACG -3'

Sequencing Primer
(F):5'- CAGCAAGTCTGTGGGGTTGC -3'
(R):5'- GAACTTCTGGCCATATAACAAGAC -3'

Posted On

2014-06-30