Mutagenetix > Incidental Mutation

Incidental Mutation 'R8448:Adamtsl3'

654605

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl3

Ensembl Gene

ENSMUSG00000070469

Gene Name

ADAMTS-like 3

Synonyms

9230119C12Rik, punctin-2

MMRRC Submission

067828-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81984902-82263658 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 82253007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1527 (T1527K)

Ref Sequence

ENSEMBL: ENSMUSP00000133637 (fasta)

Gene Model

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

AlphaFold

G3UXC7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173287
AA Change: T1527K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: T1527K

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

SMART Domains

Protein: ENSMUSP00000133337
Gene: ENSMUSG00000070469
AA Change: T601K

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,461,022 (GRCm39)		probably null	Het
Adamts6	T	A	13: 104,616,027 (GRCm39)	C1030S	probably damaging	Het
Akap9	G	A	5: 3,998,897 (GRCm39)		probably null	Het
Ankle2	C	A	5: 110,389,909 (GRCm39)	P457T	possibly damaging	Het
Ankrd7	A	G	6: 18,868,007 (GRCm39)	N91S	probably damaging	Het
Ascc3	C	A	10: 50,494,173 (GRCm39)	Q203K	probably benign	Het
Baz2b	A	T	2: 59,742,137 (GRCm39)	D61E		Het
Bmpr1a	T	A	14: 34,136,759 (GRCm39)	K477N	probably benign	Het
Cacna1d	T	C	14: 29,824,364 (GRCm39)	I1040V	probably damaging	Het
Castor2	T	C	5: 134,166,955 (GRCm39)	F304L	possibly damaging	Het
Cdkn2a	C	A	4: 89,200,291 (GRCm39)	V20L	possibly damaging	Het
Chd5	A	G	4: 152,445,173 (GRCm39)	S385G	probably damaging	Het
Cntrob	A	G	11: 69,190,679 (GRCm39)	F46L	unknown	Het
Cth	T	C	3: 157,630,657 (GRCm39)	D4G	probably benign	Het
Cyld	C	T	8: 89,456,197 (GRCm39)	H416Y	probably damaging	Het
Dennd6a	C	A	14: 26,328,098 (GRCm39)	H264Q	possibly damaging	Het
Dnah1	T	C	14: 31,015,682 (GRCm39)	Y1672C	probably damaging	Het
Dnah8	A	G	17: 30,892,814 (GRCm39)	I800V	probably benign	Het
Esrp2	A	G	8: 106,858,853 (GRCm39)	Y595H	probably damaging	Het
F12	T	A	13: 55,566,301 (GRCm39)	Y497F	probably benign	Het
Fggy	A	G	4: 95,732,427 (GRCm39)	T473A	probably benign	Het
Garre1	A	T	7: 33,984,569 (GRCm39)	L18Q	probably damaging	Het
Gstt2	C	A	10: 75,668,526 (GRCm39)	R107L	probably damaging	Het
Hectd4	A	T	5: 121,358,319 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,938,791 (GRCm39)	F561S	probably damaging	Het
Ints2	T	C	11: 86,146,249 (GRCm39)	T120A	probably benign	Het
Kdm5d	G	A	Y: 914,056 (GRCm39)	R331H	probably benign	Het
Krt6b	A	G	15: 101,586,455 (GRCm39)	Y345H	probably damaging	Het
Limch1	A	G	5: 67,159,825 (GRCm39)	K418E	probably damaging	Het
Lrrc37	T	A	11: 103,511,726 (GRCm39)	T81S	unknown	Het
Med17	C	T	9: 15,173,735 (GRCm39)		probably null	Het
Met	A	T	6: 17,571,799 (GRCm39)	I1373F	probably benign	Het
Naip6	T	A	13: 100,436,894 (GRCm39)	Q543L	possibly damaging	Het
Nat9	T	C	11: 115,075,902 (GRCm39)	T40A	probably damaging	Het
Notch4	A	T	17: 34,805,763 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,292,619 (GRCm39)	N455S	probably damaging	Het
Or52k2	C	A	7: 102,254,207 (GRCm39)	F215L	probably benign	Het
Pde4a	T	C	9: 21,117,534 (GRCm39)	F599L	probably benign	Het
Pga5	T	C	19: 10,649,173 (GRCm39)	Y249C	probably damaging	Het
Plekha8	A	T	6: 54,607,539 (GRCm39)	K382M	probably damaging	Het
Plekhd1	A	T	12: 80,753,149 (GRCm39)	E119V	probably damaging	Het
Pnp	A	T	14: 51,185,356 (GRCm39)	H20L	probably benign	Het
Polq	A	T	16: 36,837,559 (GRCm39)		probably null	Het
Psma3	T	G	12: 71,035,250 (GRCm39)	I177R	probably damaging	Het
Ptpn3	A	G	4: 57,240,784 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,400,806 (GRCm39)	L1077Q	probably damaging	Het
Ralgps2	A	T	1: 156,651,744 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,184,573 (GRCm39)	M10K	possibly damaging	Het
Rere	A	G	4: 150,703,653 (GRCm39)	D186G	probably damaging	Het
Rpl24	T	C	16: 55,787,453 (GRCm39)	S38P	probably damaging	Het
Slco1a1	A	T	6: 141,885,787 (GRCm39)	F79L	possibly damaging	Het
Sorl1	T	A	9: 41,903,041 (GRCm39)	D1551V	probably benign	Het
Sos1	C	A	17: 80,741,548 (GRCm39)	M412I	probably benign	Het
Spast	G	A	17: 74,666,293 (GRCm39)	V209I	probably benign	Het
Spindoc	G	T	19: 7,335,769 (GRCm39)	Q340K	possibly damaging	Het
Tlr6	T	C	5: 65,111,185 (GRCm39)	Y574C	probably damaging	Het
Tnrc6a	A	G	7: 122,791,346 (GRCm39)	N1748S	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,474 (GRCm39)	K16N	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Usp24	A	G	4: 106,225,933 (GRCm39)	D659G	possibly damaging	Het
Vmn2r88	T	A	14: 51,656,253 (GRCm39)	C821S	probably damaging	Het
Whamm	T	A	7: 81,224,295 (GRCm39)	V197D	probably damaging	Het
Zfp777	A	G	6: 48,006,101 (GRCm39)	F431S	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
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
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'- AGCCCTGACATCACCATAGT -3'
(R):5'- AAAACTGTGGCCCATTACCATT -3'

Sequencing Primer
(F):5'- CTGACATCACCATAGTGTTGGGATC -3'
(R):5'- GCATTGTGGCTCATCAGAAC -3'

Posted On

2020-10-20