Mutagenetix > Incidental Mutation

Incidental Mutation 'R7506:Adamtsl3'

581792

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl3

Ensembl Gene

ENSMUSG00000070469

Gene Name

ADAMTS-like 3

Synonyms

9230119C12Rik, punctin-2

MMRRC Submission

045579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7506 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81984902-82263658 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82164186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 334 (R334W)

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: R334W

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

SMART Domains

Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: R334W

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (58/59)

Allele List at MGI

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

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,209,202 (GRCm39)	V31I	probably benign	Het
4933430I17Rik	T	C	4: 62,450,498 (GRCm39)	V24A	possibly damaging	Het
Aox1	G	A	1: 58,088,562 (GRCm39)	C116Y	probably damaging	Het
B3gntl1	A	T	11: 121,561,740 (GRCm39)	I74N	probably damaging	Het
Bicra	C	T	7: 15,722,138 (GRCm39)	V460M	possibly damaging	Het
Ccdc18	G	A	5: 108,311,605 (GRCm39)	C437Y	possibly damaging	Het
Cdh6	A	G	15: 13,034,396 (GRCm39)	S755P	probably damaging	Het
Crtc2	G	T	3: 90,166,519 (GRCm39)	A165S	probably damaging	Het
Cwf19l2	C	T	9: 3,456,775 (GRCm39)	H703Y	probably damaging	Het
Cyc1	C	A	15: 76,227,885 (GRCm39)	T41K	probably benign	Het
Defb28	A	T	2: 152,360,221 (GRCm39)	H12L	possibly damaging	Het
Dsg3	T	A	18: 20,666,521 (GRCm39)	C577S	probably benign	Het
Ggt6	G	T	11: 72,328,724 (GRCm39)	C408F	possibly damaging	Het
Gm3278	T	A	14: 16,080,479 (GRCm39)	Y97N	probably damaging	Het
Gpr155	A	G	2: 73,198,683 (GRCm39)	L412P	probably damaging	Het
Gucd1	T	C	10: 75,347,019 (GRCm39)	H77R	probably benign	Het
H2bc8	G	A	13: 23,755,658 (GRCm39)	A18T	unknown	Het
Hat1	T	A	2: 71,250,691 (GRCm39)	I158N	probably damaging	Het
Hhla1	C	T	15: 65,808,231 (GRCm39)	W271*	probably null	Het
Igsf10	T	A	3: 59,226,775 (GRCm39)	L2299F	probably damaging	Het
Iqsec1	A	G	6: 90,644,891 (GRCm39)	S914P	probably damaging	Het
Iqsec1	G	T	6: 90,639,788 (GRCm39)	H983Q	possibly damaging	Het
Irx2	G	T	13: 72,777,328 (GRCm39)	G50C	probably damaging	Het
Kif26b	T	C	1: 178,357,064 (GRCm39)		probably benign	Het
Lmo7	A	G	14: 102,157,045 (GRCm39)	E1405G	unknown	Het
Mdm2	T	C	10: 117,526,596 (GRCm39)	D330G	possibly damaging	Het
Mgat5	A	C	1: 127,294,192 (GRCm39)	D178A	probably benign	Het
Mier2	C	A	10: 79,386,176 (GRCm39)	R25L	probably benign	Het
Mlip	T	C	9: 77,072,085 (GRCm39)	K257E	probably damaging	Het
Mtfr2	T	C	10: 20,229,131 (GRCm39)	S80P	probably benign	Het
Ndst2	A	G	14: 20,780,153 (GRCm39)	V29A	probably benign	Het
Negr1	T	G	3: 156,774,870 (GRCm39)	Y195*	probably null	Het
Nptn	T	C	9: 58,526,156 (GRCm39)	L101P	probably damaging	Het
Nrip1	G	A	16: 76,091,347 (GRCm39)	T70I	probably damaging	Het
Nrtn	C	T	17: 57,058,633 (GRCm39)	V123M	probably damaging	Het
Onecut1	T	A	9: 74,770,522 (GRCm39)	F315Y	possibly damaging	Het
Or1p1	A	T	11: 74,179,949 (GRCm39)	H159L	possibly damaging	Het
P4htm	A	G	9: 108,460,878 (GRCm39)	L198S	probably damaging	Het
Pappa	A	C	4: 65,149,419 (GRCm39)	I920L	probably benign	Het
Pcdhgb5	A	C	18: 37,865,525 (GRCm39)	D440A	probably damaging	Het
Ppard	A	T	17: 28,517,735 (GRCm39)	N268Y	possibly damaging	Het
Rapgef6	T	A	11: 54,526,997 (GRCm39)	S563T	probably benign	Het
Rtn3	T	A	19: 7,407,118 (GRCm39)	E949D	probably benign	Het
Sf3a1	T	C	11: 4,127,561 (GRCm39)	M629T	probably benign	Het
Slc39a8	T	C	3: 135,590,067 (GRCm39)	I319T	probably benign	Het
Sorcs1	C	T	19: 50,171,112 (GRCm39)	W925*	probably null	Het
Spag9	G	A	11: 93,999,290 (GRCm39)	D1069N	probably damaging	Het
Taar7a	A	G	10: 23,868,892 (GRCm39)	V163A	possibly damaging	Het
Tmem150a	G	A	6: 72,333,753 (GRCm39)		probably null	Het
Tnxb	G	A	17: 34,934,665 (GRCm39)	V2425I	possibly damaging	Het
Tppp2	A	G	14: 52,158,058 (GRCm39)	K168E	possibly damaging	Het
Ttn	T	A	2: 76,719,812 (GRCm39)	D7099V	unknown	Het
Vmn1r41	A	T	6: 89,724,159 (GRCm39)	R50*	probably null	Het
Vmn1r60	T	C	7: 5,547,861 (GRCm39)	K80E		Het
Vmn2r18	A	G	5: 151,508,485 (GRCm39)	F213S	possibly damaging	Het
Vmn2r26	G	A	6: 124,016,700 (GRCm39)	S388N	probably benign	Het
Vmn2r63	A	T	7: 42,576,391 (GRCm39)	F474Y	probably damaging	Het
Zc3hav1	G	A	6: 38,309,875 (GRCm39)	R316*	probably null	Het
Zfp654	A	T	16: 64,612,211 (GRCm39)	I225N	probably damaging	Het
Zfp97	A	G	17: 17,365,542 (GRCm39)	E347G	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
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
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'- TTGGGGCAAGTCTGAGTGAC -3'
(R):5'- TATTAAGACCTTGAACTCAGCACAC -3'

Sequencing Primer
(F):5'- GAGTGACAGGCTATCCTATCTAAAGC -3'
(R):5'- GTCTTAAAGTCCATCTCAACCAGGTG -3'

Posted On

2019-10-17