Mutagenetix > Incidental Mutation

Incidental Mutation 'R5638:Adamtsl3'

440491

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl3

Ensembl Gene

ENSMUSG00000070469

Gene Name

ADAMTS-like 3

Synonyms

9230119C12Rik, punctin-2

MMRRC Submission

043168-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5638 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81984902-82263658 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82260958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1631 (R1631W)

Ref Sequence

ENSEMBL: ENSMUSP00000133637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172784] [ENSMUST00000173287] [ENSMUST00000173828]

AlphaFold

G3UXC7

Predicted Effect

probably benign
Transcript: ENSMUST00000172784

SMART Domains

Protein: ENSMUSP00000134150
Gene: ENSMUSG00000070469

Domain	Start	End	E-Value	Type
Blast:TSP1	1	32	3e-16	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000173287
AA Change: R1631W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: R1631W

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

possibly damaging
Transcript: ENSMUST00000173828
AA Change: R705W

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133337
Gene: ENSMUSG00000070469
AA Change: R705W

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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
2610028H24Rik	G	A	10: 76,288,729 (GRCm39)	A96T	probably benign	Het
A930018M24Rik	T	C	14: 51,134,414 (GRCm39)	D76G	possibly damaging	Het
Alg5	C	T	3: 54,646,254 (GRCm39)	H40Y	probably benign	Het
B3galt1	T	C	2: 67,949,095 (GRCm39)	L270P	probably damaging	Het
Ceacam3	A	G	7: 16,893,860 (GRCm39)	Y457C	probably damaging	Het
Cenpa	A	T	5: 30,830,736 (GRCm39)	R124W	probably damaging	Het
Cfap44	A	G	16: 44,275,894 (GRCm39)	T1385A	possibly damaging	Het
Chd9	A	T	8: 91,738,078 (GRCm39)	H1570L	possibly damaging	Het
Cmtm4	T	C	8: 105,084,356 (GRCm39)	I113V	probably benign	Het
Dmxl1	T	C	18: 50,024,693 (GRCm39)	I1789T	possibly damaging	Het
Dpf3	G	A	12: 83,371,714 (GRCm39)	R174W	probably damaging	Het
Dusp26	T	C	8: 31,584,169 (GRCm39)	L92P	probably damaging	Het
Fndc7	T	A	3: 108,770,208 (GRCm39)	T659S	possibly damaging	Het
Fry	A	G	5: 150,282,546 (GRCm39)	H357R	possibly damaging	Het
G0s2	A	T	1: 192,954,859 (GRCm39)	L75H	probably damaging	Het
Gm5493	A	G	17: 22,969,065 (GRCm39)	T82A	probably benign	Het
Herc2	T	C	7: 55,854,164 (GRCm39)	V3690A	probably benign	Het
Igf2bp3	C	A	6: 49,064,734 (GRCm39)	V537F	probably damaging	Het
Kntc1	C	T	5: 123,956,538 (GRCm39)	R2101W	possibly damaging	Het
Kpna2rt	T	C	17: 90,217,635 (GRCm39)	E37G	probably damaging	Het
Mrgpra6	G	T	7: 46,835,657 (GRCm39)	P255T	probably damaging	Het
Ncor2	A	G	5: 125,125,364 (GRCm39)	V229A	probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or6c210	T	A	10: 129,495,969 (GRCm39)	I98K	possibly damaging	Het
Or7g21	T	A	9: 19,032,676 (GRCm39)	C142S	probably benign	Het
Ppt2	C	A	17: 34,844,823 (GRCm39)	M140I	probably benign	Het
Ppwd1	A	G	13: 104,356,906 (GRCm39)	I203T	probably damaging	Het
Prpf6	A	G	2: 181,287,381 (GRCm39)	T589A	probably benign	Het
Psd4	T	C	2: 24,287,427 (GRCm39)	L453P	probably benign	Het
Ptpn14	A	G	1: 189,519,038 (GRCm39)	T23A	probably damaging	Het
Rxrb	T	C	17: 34,256,381 (GRCm39)	L374P	probably damaging	Het
Scaf4	T	C	16: 90,041,198 (GRCm39)	E710G	unknown	Het
Sik1	C	T	17: 32,069,802 (GRCm39)	V216I	probably damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc30a5	T	A	13: 100,950,380 (GRCm39)	K236*	probably null	Het
Slc38a4	A	C	15: 96,910,871 (GRCm39)	S135A	probably damaging	Het
Slc9a1	T	A	4: 133,139,571 (GRCm39)	V263D	probably damaging	Het
Socs2	T	C	10: 95,228,745 (GRCm39)	I168M	unknown	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sspo	T	C	6: 48,469,825 (GRCm39)	S4508P	possibly damaging	Het
Stat5b	C	A	11: 100,675,080 (GRCm39)	E710*	probably null	Het
Stip1	G	A	19: 7,009,883 (GRCm39)	P213L	probably damaging	Het
Tarbp1	A	T	8: 127,177,425 (GRCm39)	L749Q	probably damaging	Het
Thsd7b	T	G	1: 129,523,270 (GRCm39)	S24R	probably benign	Het
Upp2	T	C	2: 58,680,107 (GRCm39)	V293A	probably damaging	Het
Vmn2r65	C	T	7: 84,590,047 (GRCm39)	C623Y	probably damaging	Het
Vps54	T	C	11: 21,258,799 (GRCm39)	V742A	probably damaging	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
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
R8360:Adamtsl3	UTSW	7	82,197,187 (GRCm39)	missense	probably damaging	1.00
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'- AGTTTTCTAAGGACGCCTTTAGTAC -3'
(R):5'- ACCAGGCTTCTTGGGAACTG -3'

Sequencing Primer
(F):5'- AGGGCTTGATCAATGCCAG -3'
(R):5'- CTTCTTGGGAACTGGTGATACC -3'

Posted On

2016-11-08