Mutagenetix > Incidental Mutation

Incidental Mutation 'R8360:Adamtsl3'

652146

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl3

Ensembl Gene

ENSMUSG00000070469

Gene Name

ADAMTS-like 3

Synonyms

9230119C12Rik, punctin-2

MMRRC Submission

067734-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81984902-82263658 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82197187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 711 (C711Y)

Ref Sequence

ENSEMBL: ENSMUSP00000133637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173287] [ENSMUST00000173828]

AlphaFold

G3UXC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000173287
AA Change: C711Y

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

SMART Domains

Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: C711Y

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
TSP1	90	136	6.43e-8	SMART
TSP1	355	414	1.59e-1	SMART
TSP1	433	492	3.72e-4	SMART
TSP1	494	547	4.28e-4	SMART
TSP1	579	638	1.85e-2	SMART
TSP1	660	717	1.75e-2	SMART
TSP1	719	773	3.45e-8	SMART
TSP1	775	833	3.67e-3	SMART
TSP1	836	894	8.99e-2	SMART
IGc2	938	1002	7.59e-4	SMART
IG	1213	1296	4.87e0	SMART
IGc2	1326	1388	1.01e-13	SMART
TSP1	1441	1498	1.95e-2	SMART
TSP1	1500	1559	6.76e-2	SMART
TSP1	1616	1666	3.84e-1	SMART
Pfam:PLAC	1674	1704	2.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173828

SMART Domains

Protein: ENSMUSP00000133337
Gene: ENSMUSG00000070469

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Blast:IG	22	79	1e-26	BLAST
SCOP:d1biha4	27	77	2e-5	SMART
IG	283	366	4.87e0	SMART
IGc2	396	458	1.01e-13	SMART
TSP1	511	568	1.95e-2	SMART
TSP1	570	629	6.76e-2	SMART
TSP1	686	736	3.84e-1	SMART

Meta Mutation Damage Score

0.9389

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

96% (43/45)

Allele List at MGI

All alleles(10) : Targeted(7) Gene trapped(2) Spontaneous(1)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	C	T	19: 21,655,888 (GRCm39)	Q57*	probably null	Het
Acad8	C	T	9: 26,890,352 (GRCm39)	A288T	possibly damaging	Het
Ahcyl2	C	A	6: 29,768,869 (GRCm39)	D111E	probably benign	Het
Asxl3	T	C	18: 22,649,174 (GRCm39)	F388L	probably benign	Het
Bcr	T	A	10: 74,981,271 (GRCm39)	S697T	probably damaging	Het
Catspere2	G	A	1: 177,842,724 (GRCm39)	V50M	possibly damaging	Het
Dgka	C	A	10: 128,563,997 (GRCm39)	V451F	probably damaging	Het
Dnajc2	A	T	5: 21,962,705 (GRCm39)	C617S	unknown	Het
Erich3	C	A	3: 154,469,991 (GRCm39)	T1481K	unknown	Het
Golm2	A	T	2: 121,697,632 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,874,059 (GRCm39)	D396E	probably benign	Het
Hmgcs2	A	T	3: 98,204,724 (GRCm39)	D294V	possibly damaging	Het
Hnf1a	A	G	5: 115,091,391 (GRCm39)	V434A	possibly damaging	Het
Il4ra	T	C	7: 125,169,138 (GRCm39)	L130P	probably damaging	Het
Inpp5j	T	C	11: 3,449,767 (GRCm39)	K672E	probably damaging	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Kif26b	T	C	1: 178,743,938 (GRCm39)	S1345P	probably benign	Het
Lrrc28	A	T	7: 67,290,909 (GRCm39)	D37E	probably benign	Het
Mlx	G	T	11: 100,978,140 (GRCm39)		probably benign	Het
Muc16	T	C	9: 18,436,554 (GRCm39)	H7878R	probably benign	Het
Mybpc1	C	A	10: 88,409,359 (GRCm39)	E32*	probably null	Het
Nebl	C	T	2: 17,465,298 (GRCm39)	V18M	probably benign	Het
Nhsl3	C	T	4: 129,117,995 (GRCm39)	R268Q	possibly damaging	Het
Nlrp3	T	C	11: 59,440,229 (GRCm39)	V602A	probably benign	Het
Npepps	G	A	11: 97,120,665 (GRCm39)	P532S	probably benign	Het
Or7g12	T	A	9: 18,900,139 (GRCm39)	M285K	probably benign	Het
Or8g19	C	T	9: 39,055,761 (GRCm39)	R122*	probably null	Het
Or8k53	T	C	2: 86,177,668 (GRCm39)	I147M	possibly damaging	Het
Pfdn1	G	A	18: 36,584,214 (GRCm39)	T40M	probably benign	Het
Pkd2	G	T	5: 104,607,653 (GRCm39)	E51*	probably null	Het
Prss40	T	A	1: 34,599,876 (GRCm39)	H37L	probably benign	Het
Rab11fip1	A	T	8: 27,642,374 (GRCm39)	C808*	probably null	Het
Rab3gap2	A	T	1: 184,999,270 (GRCm39)		probably benign	Het
Sall3	C	T	18: 81,017,232 (GRCm39)	R232H	probably benign	Het
Sbk3	A	G	7: 4,970,707 (GRCm39)	F221L	probably damaging	Het
Sema7a	T	G	9: 57,862,974 (GRCm39)		probably benign	Het
Serpina3b	C	A	12: 104,104,962 (GRCm39)	N379K	probably benign	Het
Ssbp4	A	G	8: 71,052,039 (GRCm39)	L208P	probably benign	Het
Stxbp5	C	T	10: 9,688,003 (GRCm39)		probably null	Het
Tecrl	A	G	5: 83,448,764 (GRCm39)	Y160H	probably damaging	Het
Tnc	T	C	4: 63,885,511 (GRCm39)	I1773V	probably benign	Het
Ush2a	A	G	1: 188,198,468 (GRCm39)	T1511A	probably benign	Het
Utp15	T	C	13: 98,391,499 (GRCm39)	N246S	probably damaging	Het
Vmn1r49	C	T	6: 90,049,991 (GRCm39)	A4T	probably benign	Het
Vmn2r57	A	T	7: 41,049,640 (GRCm39)	I703N	probably damaging	Het
Wdr93	A	G	7: 79,398,974 (GRCm39)	D36G	probably damaging	Het
Zfp334	A	G	2: 165,225,278 (GRCm39)	I8T	probably benign	Het

Other mutations in Adamtsl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01549:Adamtsl3	APN	7	82,261,656 (GRCm39)	missense	probably damaging	1.00
IGL01936:Adamtsl3	APN	7	82,244,579 (GRCm39)	missense	possibly damaging	0.93
IGL02819:Adamtsl3	APN	7	82,223,329 (GRCm39)	missense	probably damaging	0.99
P0012:Adamtsl3	UTSW	7	82,223,465 (GRCm39)	missense	probably benign	0.27
R0096:Adamtsl3	UTSW	7	82,114,907 (GRCm39)	intron	probably benign
R0096:Adamtsl3	UTSW	7	82,114,907 (GRCm39)	intron	probably benign
R0180:Adamtsl3	UTSW	7	82,225,198 (GRCm39)	missense	probably benign	0.00
R0270:Adamtsl3	UTSW	7	82,206,032 (GRCm39)	missense	probably damaging	1.00
R0295:Adamtsl3	UTSW	7	82,197,213 (GRCm39)	critical splice donor site	probably null
R0329:Adamtsl3	UTSW	7	82,171,198 (GRCm39)	missense	probably damaging	1.00
R0330:Adamtsl3	UTSW	7	82,171,198 (GRCm39)	missense	probably damaging	1.00
R0548:Adamtsl3	UTSW	7	82,178,191 (GRCm39)	critical splice donor site	probably null
R0611:Adamtsl3	UTSW	7	82,178,120 (GRCm39)	missense	probably damaging	1.00
R0671:Adamtsl3	UTSW	7	82,172,390 (GRCm39)	missense	probably damaging	1.00
R0711:Adamtsl3	UTSW	7	82,114,907 (GRCm39)	intron	probably benign
R0845:Adamtsl3	UTSW	7	82,225,204 (GRCm39)	missense	probably damaging	1.00
R1119:Adamtsl3	UTSW	7	82,189,525 (GRCm39)	missense	probably damaging	0.96
R1458:Adamtsl3	UTSW	7	82,172,528 (GRCm39)	missense	probably damaging	1.00
R1644:Adamtsl3	UTSW	7	82,099,298 (GRCm39)	missense	possibly damaging	0.87
R1691:Adamtsl3	UTSW	7	82,148,814 (GRCm39)	missense	probably damaging	1.00
R1838:Adamtsl3	UTSW	7	82,142,581 (GRCm39)	missense	probably damaging	1.00
R2131:Adamtsl3	UTSW	7	82,227,802 (GRCm39)	missense	probably damaging	1.00
R2245:Adamtsl3	UTSW	7	82,099,308 (GRCm39)	missense	probably damaging	1.00
R2274:Adamtsl3	UTSW	7	82,255,766 (GRCm39)	missense	probably benign	0.37
R2275:Adamtsl3	UTSW	7	82,255,766 (GRCm39)	missense	probably benign	0.37
R2448:Adamtsl3	UTSW	7	82,148,956 (GRCm39)	missense	probably damaging	1.00
R3725:Adamtsl3	UTSW	7	82,261,612 (GRCm39)	missense	possibly damaging	0.80
R3757:Adamtsl3	UTSW	7	81,986,415 (GRCm39)	missense	probably benign	0.01
R3821:Adamtsl3	UTSW	7	82,255,687 (GRCm39)	splice site	probably benign
R4618:Adamtsl3	UTSW	7	82,255,728 (GRCm39)	missense	probably benign	0.41
R4842:Adamtsl3	UTSW	7	82,178,069 (GRCm39)	missense	probably damaging	1.00
R4887:Adamtsl3	UTSW	7	82,223,822 (GRCm39)	missense	possibly damaging	0.87
R4888:Adamtsl3	UTSW	7	82,223,822 (GRCm39)	missense	possibly damaging	0.87
R4925:Adamtsl3	UTSW	7	82,251,507 (GRCm39)	critical splice donor site	probably null
R4960:Adamtsl3	UTSW	7	82,216,185 (GRCm39)	missense	probably damaging	0.99
R5026:Adamtsl3	UTSW	7	82,225,262 (GRCm39)	missense	probably benign	0.07
R5152:Adamtsl3	UTSW	7	82,223,752 (GRCm39)	missense	probably benign	0.11
R5198:Adamtsl3	UTSW	7	82,261,006 (GRCm39)	missense	possibly damaging	0.63
R5244:Adamtsl3	UTSW	7	82,247,277 (GRCm39)	missense	probably benign	0.02
R5281:Adamtsl3	UTSW	7	82,178,142 (GRCm39)	missense	probably damaging	1.00
R5323:Adamtsl3	UTSW	7	82,206,269 (GRCm39)	missense	probably damaging	1.00
R5523:Adamtsl3	UTSW	7	82,223,650 (GRCm39)	missense	possibly damaging	0.86
R5602:Adamtsl3	UTSW	7	82,206,447 (GRCm39)	missense	possibly damaging	0.89
R5638:Adamtsl3	UTSW	7	82,260,958 (GRCm39)	missense	probably damaging	0.99
R5682:Adamtsl3	UTSW	7	82,255,758 (GRCm39)	missense	probably damaging	0.99
R5782:Adamtsl3	UTSW	7	82,189,494 (GRCm39)	splice site	probably null
R5946:Adamtsl3	UTSW	7	82,225,265 (GRCm39)	missense	probably damaging	0.98
R6091:Adamtsl3	UTSW	7	82,114,829 (GRCm39)	missense	probably damaging	1.00
R6258:Adamtsl3	UTSW	7	82,178,191 (GRCm39)	critical splice donor site	probably null
R6500:Adamtsl3	UTSW	7	82,227,818 (GRCm39)	missense	probably benign	0.00
R6765:Adamtsl3	UTSW	7	82,216,232 (GRCm39)	missense	possibly damaging	0.60
R6785:Adamtsl3	UTSW	7	82,171,212 (GRCm39)	missense	probably damaging	0.99
R6982:Adamtsl3	UTSW	7	82,164,271 (GRCm39)	missense	probably damaging	1.00
R7109:Adamtsl3	UTSW	7	82,261,069 (GRCm39)	missense
R7341:Adamtsl3	UTSW	7	82,206,082 (GRCm39)	missense	probably damaging	1.00
R7402:Adamtsl3	UTSW	7	82,227,825 (GRCm39)	missense	probably damaging	0.96
R7506:Adamtsl3	UTSW	7	82,164,186 (GRCm39)	missense	probably damaging	1.00
R7549:Adamtsl3	UTSW	7	82,223,117 (GRCm39)	missense	probably damaging	1.00
R7575:Adamtsl3	UTSW	7	82,223,756 (GRCm39)	missense	possibly damaging	0.85
R7592:Adamtsl3	UTSW	7	81,986,459 (GRCm39)	missense	probably benign	0.00
R7617:Adamtsl3	UTSW	7	82,206,054 (GRCm39)	splice site	probably null
R7654:Adamtsl3	UTSW	7	82,223,702 (GRCm39)	missense	probably benign
R7721:Adamtsl3	UTSW	7	82,255,728 (GRCm39)	missense	possibly damaging	0.62
R7784:Adamtsl3	UTSW	7	82,223,197 (GRCm39)	missense	probably damaging	1.00
R7858:Adamtsl3	UTSW	7	82,099,371 (GRCm39)	missense	probably damaging	1.00
R8109:Adamtsl3	UTSW	7	82,251,487 (GRCm39)	missense	possibly damaging	0.94
R8125:Adamtsl3	UTSW	7	82,099,541 (GRCm39)	splice site	probably null
R8211:Adamtsl3	UTSW	7	82,172,371 (GRCm39)	missense	probably damaging	1.00
R8348:Adamtsl3	UTSW	7	82,253,007 (GRCm39)	missense	possibly damaging	0.89
R8448:Adamtsl3	UTSW	7	82,253,007 (GRCm39)	missense	possibly damaging	0.89
R8465:Adamtsl3	UTSW	7	82,247,330 (GRCm39)	missense	probably benign	0.43
R8547:Adamtsl3	UTSW	7	82,077,621 (GRCm39)	missense	probably damaging	1.00
R8551:Adamtsl3	UTSW	7	82,189,678 (GRCm39)	missense	probably benign	0.34
R8558:Adamtsl3	UTSW	7	82,077,600 (GRCm39)	missense	possibly damaging	0.59
R8709:Adamtsl3	UTSW	7	82,077,642 (GRCm39)	missense	possibly damaging	0.94
R8722:Adamtsl3	UTSW	7	82,244,745 (GRCm39)	critical splice donor site	probably null
R8930:Adamtsl3	UTSW	7	82,261,069 (GRCm39)	missense
R8932:Adamtsl3	UTSW	7	82,261,069 (GRCm39)	missense
R9131:Adamtsl3	UTSW	7	82,244,722 (GRCm39)	missense	probably benign	0.00
R9169:Adamtsl3	UTSW	7	82,223,188 (GRCm39)	missense	probably damaging	0.99
R9272:Adamtsl3	UTSW	7	82,189,753 (GRCm39)	missense	probably damaging	1.00
R9276:Adamtsl3	UTSW	7	82,206,710 (GRCm39)	intron	probably benign
R9351:Adamtsl3	UTSW	7	82,169,929 (GRCm39)	missense	possibly damaging	0.94
R9352:Adamtsl3	UTSW	7	82,091,656 (GRCm39)	missense	probably damaging	1.00
R9749:Adamtsl3	UTSW	7	82,099,394 (GRCm39)	missense	probably benign	0.04
R9750:Adamtsl3	UTSW	7	82,244,589 (GRCm39)	missense	probably benign	0.11
RF005:Adamtsl3	UTSW	7	82,261,603 (GRCm39)	missense
X0003:Adamtsl3	UTSW	7	82,260,967 (GRCm39)	nonsense	probably null
X0063:Adamtsl3	UTSW	7	82,223,365 (GRCm39)	missense	probably benign	0.25
Z1088:Adamtsl3	UTSW	7	82,189,533 (GRCm39)	missense	probably damaging	1.00
Z1088:Adamtsl3	UTSW	7	82,148,922 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTCCGATGCAGTCAAAGG -3'
(R):5'- TGGGGTCCCAGCATAAGTAG -3'

Sequencing Primer
(F):5'- CTGGTGATGTAAAGACCCCAGATTC -3'
(R):5'- TCCCAGCATAAGTAGAGCAGATG -3'

Posted On

2020-10-20