Mutagenetix > Incidental Mutation

Incidental Mutation 'R1470:Col20a1'

165771

Institutional Source

Beutler Lab

Gene Symbol

Col20a1

Ensembl Gene

ENSMUSG00000016356

Gene Name

collagen, type XX, alpha 1

Synonyms

1700051I12Rik

MMRRC Submission

039523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1470 (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 180636753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 245 (H245Y)

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: H287Y

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: H287Y

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: H245Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: H245Y

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: ENSMUST00000228434
AA Change: H245Y

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 98.4%
10x: 90.6%
20x: 68.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,944,337 (GRCm39)	S749T	unknown	Het
Abcb4	A	T	5: 8,990,968 (GRCm39)	I843F	probably damaging	Het
Actr8	T	A	14: 29,708,926 (GRCm39)	H244Q	possibly damaging	Het
Adgrv1	A	G	13: 81,530,417 (GRCm39)	Y5886H	probably benign	Het
Agk	T	A	6: 40,363,751 (GRCm39)	W244R	probably damaging	Het
Ankrd11	C	A	8: 123,626,463 (GRCm39)	V161L	probably damaging	Het
Arap3	T	C	18: 38,122,249 (GRCm39)		probably null	Het
Armc3	A	G	2: 19,243,547 (GRCm39)	M88V	probably benign	Het
Atp13a5	G	T	16: 29,167,833 (GRCm39)	P109T	probably benign	Het
Avpr1b	T	A	1: 131,528,323 (GRCm39)	V282D	probably damaging	Het
Baz2b	T	C	2: 59,808,890 (GRCm39)	K120E	possibly damaging	Het
Bltp1	T	C	3: 37,052,480 (GRCm39)	M3060T	probably benign	Het
Cacng6	G	A	7: 3,473,404 (GRCm39)	C76Y	probably damaging	Het
Cactin	G	T	10: 81,158,985 (GRCm39)	E279*	probably null	Het
Car9	A	G	4: 43,510,222 (GRCm39)	Y268C	probably damaging	Het
Ccdc146	T	A	5: 21,524,564 (GRCm39)	I263F	probably damaging	Het
Cdh16	T	G	8: 105,345,003 (GRCm39)	S429R	probably benign	Het
Cep250	A	G	2: 155,832,995 (GRCm39)	E1639G	probably damaging	Het
Ces1d	A	T	8: 93,921,649 (GRCm39)	V38D	possibly damaging	Het
Chd1	A	T	17: 15,946,545 (GRCm39)	Q97L	possibly damaging	Het
Ciita	G	A	16: 10,332,332 (GRCm39)	D898N	possibly damaging	Het
Clstn1	A	G	4: 149,719,179 (GRCm39)	N336S	possibly damaging	Het
Cntnap5a	A	G	1: 116,187,249 (GRCm39)	D607G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Coq8b	A	T	7: 26,951,734 (GRCm39)	T399S	probably benign	Het
Cpn2	A	G	16: 30,079,003 (GRCm39)	S233P	probably benign	Het
Cryz	G	A	3: 154,312,113 (GRCm39)	G70D	probably damaging	Het
Def6	T	A	17: 28,444,956 (GRCm39)	D451E	possibly damaging	Het
Dnah8	T	A	17: 30,966,251 (GRCm39)	C2480*	probably null	Het
Dnah9	T	C	11: 65,818,648 (GRCm39)	N3230S	probably benign	Het
Dyrk4	G	T	6: 126,893,337 (GRCm39)	S15*	probably null	Het
Erc1	T	C	6: 119,671,563 (GRCm39)	R917G	probably damaging	Het
Frem3	G	T	8: 81,337,820 (GRCm39)	V38L	probably benign	Het
Gas2l3	T	C	10: 89,249,796 (GRCm39)	I441V	probably benign	Het
Gm14393	T	A	2: 174,905,774 (GRCm39)	Y6F	probably damaging	Het
Gm1527	A	G	3: 28,969,417 (GRCm39)	K256E	possibly damaging	Het
Gm21905	G	T	5: 68,103,740 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,424,656 (GRCm39)		probably null	Het
Hmces	C	A	6: 87,913,121 (GRCm39)	T292K	probably benign	Het
Hpse2	G	A	19: 43,376,692 (GRCm39)	S20L	probably benign	Het
Ift70b	G	T	2: 75,768,155 (GRCm39)	S199R	probably benign	Het
Ikbke	A	T	1: 131,204,224 (GRCm39)	V23E	probably null	Het
Ino80	A	T	2: 119,210,130 (GRCm39)	V1387E	probably damaging	Het
Islr	G	T	9: 58,064,589 (GRCm39)	A306D	probably damaging	Het
Jakmip1	G	A	5: 37,258,182 (GRCm39)	G276D	probably damaging	Het
Jchain	A	G	5: 88,673,979 (GRCm39)	V55A	probably benign	Het
Kalrn	T	C	16: 34,007,841 (GRCm39)	K1350E	probably damaging	Het
Kansl1l	T	C	1: 66,841,156 (GRCm39)	Q48R	possibly damaging	Het
Kmt5a	T	C	5: 124,585,334 (GRCm39)	L23P	probably damaging	Het
Lrba	C	T	3: 86,644,449 (GRCm39)	H381Y	probably damaging	Het
Lrrc32	T	C	7: 98,148,564 (GRCm39)	V448A	probably benign	Het
Mapkbp1	T	C	2: 119,848,301 (GRCm39)	M617T	probably damaging	Het
Mfap1a	T	C	2: 121,333,282 (GRCm39)	M50V	probably benign	Het
Mgam	G	T	6: 40,736,062 (GRCm39)	A854S	probably damaging	Het
Myo18b	C	A	5: 112,840,899 (GRCm39)	R2298L	probably damaging	Het
Myo1h	T	A	5: 114,457,765 (GRCm39)	M92K	probably damaging	Het
Nlrp2	T	A	7: 5,303,950 (GRCm39)	T192S	probably benign	Het
Nr2f1	A	T	13: 78,346,284 (GRCm39)	Y137N	possibly damaging	Het
Nup98	T	A	7: 101,796,513 (GRCm39)	D841V	probably damaging	Het
Nvl	A	G	1: 180,966,827 (GRCm39)	V59A	probably damaging	Het
Ogdhl	C	A	14: 32,068,745 (GRCm39)	N948K	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or12j3	A	G	7: 139,953,026 (GRCm39)	S166P	probably benign	Het
Or13a24	A	G	7: 140,154,662 (GRCm39)	T199A	probably benign	Het
Or51g1	A	C	7: 102,633,530 (GRCm39)	Y280*	probably null	Het
Osgin1	G	A	8: 120,171,704 (GRCm39)	R166H	probably damaging	Het
Palb2	A	T	7: 121,706,746 (GRCm39)	F741I	probably benign	Het
Palb2	G	T	7: 121,706,747 (GRCm39)	Y740*	probably null	Het
Parvb	G	A	15: 84,155,509 (GRCm39)	D65N	probably benign	Het
Parvb	G	A	15: 84,155,453 (GRCm39)	G46D	probably damaging	Het
Pcsk2	A	T	2: 143,388,438 (GRCm39)	K10*	probably null	Het
Pde3a	C	T	6: 141,411,932 (GRCm39)	A502V	probably benign	Het
Pfas	T	C	11: 68,882,185 (GRCm39)	I893V	probably benign	Het
Pla2g4a	A	T	1: 149,716,471 (GRCm39)	D663E	probably damaging	Het
Prickle2	G	A	6: 92,435,583 (GRCm39)	P6L	probably damaging	Het
Prx	T	A	7: 27,217,026 (GRCm39)	M648K	probably benign	Het
Ptpn21	T	C	12: 98,654,735 (GRCm39)	N744S	probably benign	Het
Ptprq	C	T	10: 107,554,435 (GRCm39)	V97M	probably damaging	Het
Pvr	T	C	7: 19,652,549 (GRCm39)	E122G	possibly damaging	Het
Racgap1	T	C	15: 99,537,656 (GRCm39)	K15E	probably damaging	Het
Rock1	C	T	18: 10,136,091 (GRCm39)		probably null	Het
Rorc	T	A	3: 94,304,609 (GRCm39)	Y331*	probably null	Het
Rpl37	T	C	15: 5,148,096 (GRCm39)	V91A	probably benign	Het
Rrp36	T	A	17: 46,983,306 (GRCm39)	K103*	probably null	Het
Ryr3	T	A	2: 112,483,352 (GRCm39)	M4142L	probably benign	Het
Sash1	A	T	10: 8,665,357 (GRCm39)	L125H	probably damaging	Het
Scn5a	T	C	9: 119,365,541 (GRCm39)	M369V	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sfi1	C	CT	11: 3,096,255 (GRCm39)		probably null	Het
Siglec1	A	T	2: 130,912,307 (GRCm39)	N1678K	probably benign	Het
Slc15a5	A	T	6: 138,049,992 (GRCm39)	V141E	probably benign	Het
Slc8a3	A	T	12: 81,246,484 (GRCm39)	H856Q	probably benign	Het
Sptlc2	T	A	12: 87,402,414 (GRCm39)	M171L	probably benign	Het
Srcap	T	A	7: 127,158,899 (GRCm39)		probably benign	Het
St6gal2	A	G	17: 55,797,944 (GRCm39)	D310G	probably damaging	Het
Susd2	T	A	10: 75,473,888 (GRCm39)	D689V	probably damaging	Het
Suz12	A	T	11: 79,910,558 (GRCm39)	E303V	possibly damaging	Het
Taldo1	C	A	7: 140,978,500 (GRCm39)	T150K	probably damaging	Het
Tg	T	A	15: 66,721,312 (GRCm39)	F274I	possibly damaging	Het
Tmem151b	T	C	17: 45,856,663 (GRCm39)	D259G	probably damaging	Het
Tmem179	G	T	12: 112,468,288 (GRCm39)	H64Q	probably benign	Het
Tmem236	A	G	2: 14,223,732 (GRCm39)	T174A	probably benign	Het
Tnc	A	T	4: 63,884,811 (GRCm39)	N1821K	probably damaging	Het
Tnfrsf11a	A	G	1: 105,752,773 (GRCm39)	N261S	probably damaging	Het
Trank1	C	A	9: 111,172,300 (GRCm39)	F96L	possibly damaging	Het
Trim56	T	A	5: 137,142,017 (GRCm39)	I500F	probably damaging	Het
Ttll5	A	G	12: 85,926,168 (GRCm39)	I321V	possibly damaging	Het
Ttn	C	A	2: 76,608,367 (GRCm39)	W17852L	probably damaging	Het
Twnk	G	A	19: 44,997,820 (GRCm39)	V450M	probably damaging	Het
Uba52	A	G	8: 70,962,206 (GRCm39)	I127T	possibly damaging	Het
Ubr4	T	A	4: 139,148,537 (GRCm39)		probably null	Het
Uggt1	A	T	1: 36,215,877 (GRCm39)	M130K	probably benign	Het
Ulk4	T	A	9: 120,910,722 (GRCm39)	T1101S	probably benign	Het
Urb1	A	G	16: 90,548,902 (GRCm39)	S2269P	probably benign	Het
Ush2a	G	T	1: 188,132,403 (GRCm39)	R875L	probably benign	Het
Usp9y	T	A	Y: 1,332,471 (GRCm39)	H1624L	probably benign	Het
Vipr1	T	C	9: 121,494,586 (GRCm39)	L308S	possibly damaging	Het
Xdh	T	G	17: 74,198,107 (GRCm39)	K1260T	probably damaging	Het
Yipf4	A	G	17: 74,800,963 (GRCm39)	I94V	probably benign	Het
Zfhx4	A	G	3: 5,478,206 (GRCm39)	*3582W	probably null	Het
Zfp58	T	C	13: 67,640,144 (GRCm39)	N116D	possibly damaging	Het
Zfp750	C	A	11: 121,402,819 (GRCm39)	R643L	probably benign	Het
Znfx1	A	G	2: 166,884,507 (GRCm39)	V51A	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCCCTGAAAATGTGTCATCTCCTG -3'
(R):5'- TGCCTAAGAAGCTGCCTGCAAG -3'

Sequencing Primer
(F):5'- TTACCCAGAGCAGGTGATTC -3'
(R):5'- CACACTTTTACCAAGGTTGGG -3'

Posted On

2014-03-28