Mutagenetix > Incidental Mutation

Incidental Mutation 'R9223:Col20a1'

699580

Institutional Source

Beutler Lab

Gene Symbol

Col20a1

Ensembl Gene

ENSMUSG00000016356

Gene Name

collagen, type XX, alpha 1

Synonyms

1700051I12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180986535-181018363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 181006735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 938 (E938D)

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: E938D

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

SMART Domains

Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: E938D

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: E896D

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

SMART Domains

Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: E896D

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 damaging
Transcript: ENSMUST00000228434
AA Change: E896D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	C	A	9: 101,942,994	D204E	possibly damaging	Het
Aldh3a2	A	G	11: 61,265,211	S80P	probably benign	Het
Bcl6b	A	T	11: 70,226,574	Y407*	probably null	Het
Cel	TTA	TTATA	2: 28,559,429		probably null	Het
Cerkl	A	T	2: 79,341,330	C395S	probably damaging	Het
Chst5	C	A	8: 111,890,860	V43L	probably benign	Het
Clip1	A	T	5: 123,646,274	F271I	probably damaging	Het
Clspn	A	G	4: 126,590,618	T1190A	possibly damaging	Het
Ctgf	T	C	10: 24,595,958	V49A	probably benign	Het
Dmrta2	G	A	4: 109,982,582	V509M	probably damaging	Het
Dnah7b	T	A	1: 46,322,260	M3440K	probably benign	Het
Erlin1	A	G	19: 44,040,745		probably null	Het
Fam24b	A	G	7: 131,326,140	S107P	probably benign	Het
Fancm	T	A	12: 65,102,584	I708N	probably benign	Het
Fbxo11	A	T	17: 88,015,696	D12E		Het
Fbxw13	T	C	9: 109,195,048	D39G	probably damaging	Het
Gabrb3	T	G	7: 57,816,404	L322R	probably damaging	Het
Gm10696	A	C	3: 94,175,643	L287R	probably damaging	Het
Gm5239	A	T	18: 35,536,619	I13F	possibly damaging	Het
Heatr1	A	G	13: 12,404,921	Y375C	probably benign	Het
Helq	A	T	5: 100,798,437	S13T	possibly damaging	Het
Helz	A	G	11: 107,619,092	T514A	probably benign	Het
Hook3	A	G	8: 26,032,524	V32A		Het
Htra4	A	G	8: 25,037,032	I249T	possibly damaging	Het
Htt	G	T	5: 34,905,348	V2809L	probably benign	Het
Ifi203	T	A	1: 173,937,871	I46F	probably benign	Het
Kcna2	A	T	3: 107,104,990	I296F	possibly damaging	Het
Kndc1	A	G	7: 139,921,441	E882G	possibly damaging	Het
Krtap16-1	A	T	11: 99,985,245	D444E	probably benign	Het
Lrrtm3	ATTTT	ATTTTT	10: 64,089,256		probably null	Het
Mdga2	C	T	12: 66,568,860	D658N	possibly damaging	Het
Mkrn1	T	C	6: 39,401,249	K316R	possibly damaging	Het
Mmd2	C	T	5: 142,567,911	C165Y	probably damaging	Het
Mpdz	A	G	4: 81,284,630	F1843L	probably damaging	Het
Mrc2	G	A	11: 105,329,267	R338Q	probably damaging	Het
Naip5	C	T	13: 100,227,676	R372H	probably benign	Het
Nav2	C	A	7: 49,552,851	S1461Y	probably damaging	Het
Nol8	T	A	13: 49,661,262	V282D	possibly damaging	Het
Nup98	C	A	7: 102,184,960	G265V	possibly damaging	Het
Olfr1049	G	T	2: 86,255,200	F164L	possibly damaging	Het
Olfr1311	T	A	2: 112,021,172	K227N	possibly damaging	Het
Olfr1318	T	A	2: 112,156,128	M59K	possibly damaging	Het
Olfr132	C	T	17: 38,131,121	E24K	possibly damaging	Het
Olfr1532-ps1	A	G	7: 106,914,773	T192A	possibly damaging	Het
Olfr356	T	C	2: 36,937,899	F260S	probably damaging	Het
Otogl	T	A	10: 107,854,344	E888D	probably damaging	Het
Pcdhgc4	A	G	18: 37,815,632	I34V	possibly damaging	Het
Ppp1r12b	T	C	1: 134,879,638	R417G	probably benign	Het
Rtn4	A	G	11: 29,706,778	S311G	probably benign	Het
Serinc3	A	G	2: 163,636,892	V105A	probably benign	Het
Serpina3f	A	G	12: 104,217,185	D102G	possibly damaging	Het
Sik3	A	G	9: 46,155,474	I184V	probably damaging	Het
Tex35	A	T	1: 157,107,866	C21S	probably benign	Het
Tfap2b	T	C	1: 19,212,425		probably null	Het
Thbs4	C	T	13: 92,761,490	C607Y	probably damaging	Het
Tmem144	A	T	3: 79,827,657	N151K	probably benign	Het
Tomm70a	T	A	16: 57,142,803	M395K	probably benign	Het
Trim43b	A	C	9: 89,085,610	H324Q	probably benign	Het
Vmn2r116	A	T	17: 23,401,167	Y625F	probably damaging	Het
Yipf3	A	T	17: 46,248,872	N38I	probably damaging	Het
Zfp804b	T	A	5: 6,771,496	E522D	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
R3153:Col20a1	UTSW	2	181008593	missense	probably damaging	1.00
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
R8423:Col20a1	UTSW	2	180998705	missense	probably damaging	1.00
R8803:Col20a1	UTSW	2	181001338	missense	possibly damaging	0.75
R8849:Col20a1	UTSW	2	180998639	missense	probably damaging	1.00
R8855:Col20a1	UTSW	2	181013891	missense
R8885:Col20a1	UTSW	2	180998503	splice site	probably benign
R9160:Col20a1	UTSW	2	180999745	missense	probably benign
R9697:Col20a1	UTSW	2	180999784	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGTGGCCTCCATTGTTG -3'
(R):5'- ATCCTTGGACTCGTGTTCCATG -3'

Sequencing Primer
(F):5'- CCTGGCTTCAGAGAGCAGAG -3'
(R):5'- CTCGTGTTCCATGAGGTTAAGAAAG -3'

Posted On

2022-02-07