Mutagenetix > Incidental Mutation

Incidental Mutation 'R0671:Adamtsl3'

61447

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl3

Ensembl Gene

ENSMUSG00000070469

Gene Name

ADAMTS-like 3

Synonyms

9230119C12Rik, punctin-2

MMRRC Submission

038856-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0671 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

81984902-82263658 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82172390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 451 (Q451L)

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: Q451L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: Q451L

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

0.5205

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

99% (125/126)

Allele List at MGI

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

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,729,637 (GRCm39)		probably benign	Het
A530064D06Rik	G	A	17: 48,473,824 (GRCm39)	T31I	probably benign	Het
Abca17	A	G	17: 24,500,223 (GRCm39)	F1323L	probably benign	Het
Abcf3	T	A	16: 20,369,237 (GRCm39)	N206K	probably damaging	Het
Adam10	A	G	9: 70,673,223 (GRCm39)		probably benign	Het
Adgrl3	T	A	5: 81,708,752 (GRCm39)	I413N	probably benign	Het
Asb18	G	T	1: 89,920,893 (GRCm39)	A128E	probably damaging	Het
Atf7ip2	T	C	16: 10,059,743 (GRCm39)	S428P	possibly damaging	Het
Atp8b5	G	T	4: 43,291,672 (GRCm39)	C15F	possibly damaging	Het
Bahcc1	A	G	11: 120,178,146 (GRCm39)	E2235G	probably damaging	Het
Blnk	G	T	19: 40,926,111 (GRCm39)	S330*	probably null	Het
Bpnt1	T	G	1: 185,088,808 (GRCm39)	N319K	probably benign	Het
Brip1	G	A	11: 86,043,493 (GRCm39)	T357I	possibly damaging	Het
Cadm1	T	A	9: 47,725,104 (GRCm39)	D288E	probably benign	Het
Calcoco2	A	G	11: 95,998,354 (GRCm39)	V23A	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc154	G	T	17: 25,386,259 (GRCm39)		probably benign	Het
Cdk12	T	C	11: 98,120,935 (GRCm39)		probably benign	Het
Clec4a3	A	G	6: 122,930,993 (GRCm39)		probably null	Het
Cpne2	T	A	8: 95,274,970 (GRCm39)		probably benign	Het
Cyfip1	T	C	7: 55,573,710 (GRCm39)		probably null	Het
Cyp26c1	A	G	19: 37,675,009 (GRCm39)	H110R	probably damaging	Het
Cyp2j13	A	G	4: 95,959,932 (GRCm39)	Y75H	probably damaging	Het
Defb43	T	A	14: 63,249,287 (GRCm39)	V10D	probably damaging	Het
Dhx36	G	A	3: 62,401,162 (GRCm39)	S368L	possibly damaging	Het
Dock6	G	A	9: 21,715,923 (GRCm39)		probably benign	Het
Elp2	T	C	18: 24,745,499 (GRCm39)		probably benign	Het
Emilin3	A	G	2: 160,750,249 (GRCm39)	L453P	probably damaging	Het
Eml6	A	T	11: 29,755,065 (GRCm39)	D903E	probably benign	Het
Ep300	T	C	15: 81,500,335 (GRCm39)		probably benign	Het
Ep400	G	A	5: 110,836,062 (GRCm39)	T1899M	unknown	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Fbxo42	G	A	4: 140,922,550 (GRCm39)	V239M	probably damaging	Het
Fermt2	T	C	14: 45,706,776 (GRCm39)	D340G	probably benign	Het
Filip1	A	T	9: 79,726,672 (GRCm39)	V649E	probably damaging	Het
Fut8	G	A	12: 77,521,791 (GRCm39)	E477K	probably damaging	Het
Gbp3	G	A	3: 142,271,151 (GRCm39)	G185D	probably benign	Het
Gclc	G	T	9: 77,694,080 (GRCm39)	D345Y	probably damaging	Het
Gfus	A	G	15: 75,800,807 (GRCm39)	V27A	possibly damaging	Het
Gkn2	A	G	6: 87,352,800 (GRCm39)	D43G	possibly damaging	Het
Gnptab	A	G	10: 88,279,166 (GRCm39)		probably benign	Het
Greb1l	C	T	18: 10,474,303 (GRCm39)	T206I	probably damaging	Het
Grk4	A	G	5: 34,905,611 (GRCm39)	N452S	probably benign	Het
Hcn2	G	C	10: 79,570,066 (GRCm39)		probably null	Het
Hpn	T	C	7: 30,808,585 (GRCm39)	K76E	possibly damaging	Het
Hspg2	A	G	4: 137,280,591 (GRCm39)	D3268G	probably damaging	Het
Immt	A	T	6: 71,848,541 (GRCm39)	Q467L	possibly damaging	Het
Kalrn	T	C	16: 33,936,778 (GRCm39)	S1636G	probably benign	Het
Kcnh8	T	A	17: 53,285,141 (GRCm39)	L1037*	probably null	Het
Klhl33	T	C	14: 51,129,851 (GRCm39)	T548A	probably damaging	Het
Klri2	T	C	6: 129,717,171 (GRCm39)	I71V	probably benign	Het
Kmt2c	A	T	5: 25,609,363 (GRCm39)	C254S	probably damaging	Het
Lama3	T	C	18: 12,610,647 (GRCm39)	I1170T	possibly damaging	Het
Med12l	A	G	3: 59,172,350 (GRCm39)	Q1702R	probably damaging	Het
Mga	A	T	2: 119,750,391 (GRCm39)		probably null	Het
Mis18a	A	T	16: 90,517,561 (GRCm39)	I172K	possibly damaging	Het
Mrgpre	T	C	7: 143,335,254 (GRCm39)	D83G	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mrpl39	T	C	16: 84,531,282 (GRCm39)		probably benign	Het
Mrrf	C	T	2: 36,043,710 (GRCm39)	A149V	probably benign	Het
Mycbp2	A	T	14: 103,432,024 (GRCm39)	M2338K	possibly damaging	Het
Myo18b	T	C	5: 112,840,632 (GRCm39)	Q2387R	probably benign	Het
N4bp2	T	C	5: 65,964,780 (GRCm39)	I943T	probably damaging	Het
Ncapd3	T	A	9: 26,998,773 (GRCm39)	N1254K	probably benign	Het
Ncoa1	A	T	12: 4,299,758 (GRCm39)		probably null	Het
Ncor2	C	T	5: 125,126,451 (GRCm39)	A136T	probably benign	Het
Opa1	T	C	16: 29,421,025 (GRCm39)		probably benign	Het
Or13a25	A	G	7: 140,247,590 (GRCm39)	D123G	probably damaging	Het
Or5p59	C	A	7: 107,703,363 (GRCm39)	Y282*	probably null	Het
Or8b39	T	A	9: 37,996,423 (GRCm39)	M97K	possibly damaging	Het
Or9e1	T	A	11: 58,732,681 (GRCm39)	I247N	possibly damaging	Het
Pcdhb4	T	C	18: 37,440,795 (GRCm39)	M35T	probably benign	Het
Per3	T	C	4: 151,113,288 (GRCm39)	I347V	probably benign	Het
Pex13	G	A	11: 23,615,831 (GRCm39)	P5L	possibly damaging	Het
Phkb	T	A	8: 86,602,322 (GRCm39)	W38R	probably damaging	Het
Plekhf1	A	T	7: 37,920,826 (GRCm39)	D247E	probably benign	Het
Plxnb2	A	G	15: 89,042,184 (GRCm39)	S1607P	probably benign	Het
Plxnc1	T	A	10: 94,635,194 (GRCm39)	H1344L	possibly damaging	Het
Potefam1	A	C	2: 111,034,482 (GRCm39)	V350G	possibly damaging	Het
Ptk7	T	G	17: 46,901,238 (GRCm39)	N196H	possibly damaging	Het
Rab27a	G	T	9: 72,982,715 (GRCm39)	D7Y	probably damaging	Het
Rars2	T	A	4: 34,630,505 (GRCm39)	C82*	probably null	Het
Rccd1	A	T	7: 79,969,965 (GRCm39)		probably benign	Het
Riiad1	T	C	3: 94,379,546 (GRCm39)	I56V	possibly damaging	Het
Rnase4	A	G	14: 51,342,507 (GRCm39)	E77G	probably damaging	Het
Rnf126	A	T	10: 79,597,441 (GRCm39)	I157N	possibly damaging	Het
Rnf207	T	C	4: 152,391,925 (GRCm39)	R623G	probably benign	Het
Rpusd1	T	G	17: 25,947,498 (GRCm39)	F62V	possibly damaging	Het
Rxfp1	T	C	3: 79,570,600 (GRCm39)		probably null	Het
Scfd1	A	T	12: 51,459,411 (GRCm39)	Q324L	probably benign	Het
Skint3	G	T	4: 112,112,974 (GRCm39)	E195*	probably null	Het
Slc7a10	A	T	7: 34,896,758 (GRCm39)	T165S	probably benign	Het
Smagp	A	G	15: 100,519,733 (GRCm39)	I97T	probably damaging	Het
Sostdc1	A	G	12: 36,367,340 (GRCm39)	H172R	probably damaging	Het
Spast	A	G	17: 74,646,446 (GRCm39)		probably benign	Het
Sspo	G	T	6: 48,467,325 (GRCm39)		probably benign	Het
Ston2	C	T	12: 91,707,240 (GRCm39)		probably null	Het
Tas2r103	T	G	6: 133,013,313 (GRCm39)	E251A	probably benign	Het
Tbc1d2b	A	T	9: 90,104,558 (GRCm39)		probably benign	Het
Telo2	G	A	17: 25,332,139 (GRCm39)	P143L	probably benign	Het
Tgfbi	A	T	13: 56,786,539 (GRCm39)	Y674F	probably null	Het
Tha1	T	A	11: 117,763,983 (GRCm39)		probably benign	Het
Timp4	T	A	6: 115,226,814 (GRCm39)	S110C	probably damaging	Het
Tlr6	T	C	5: 65,111,935 (GRCm39)	K324R	probably benign	Het
Tnip3	A	G	6: 65,574,347 (GRCm39)	E137G	probably damaging	Het
Top6bl	A	G	19: 4,676,216 (GRCm39)	S639P	probably damaging	Het
Trak1	T	C	9: 121,278,021 (GRCm39)		probably null	Het
Trim47	A	G	11: 115,999,178 (GRCm39)	S233P	probably benign	Het
Tspoap1	A	T	11: 87,653,635 (GRCm39)	E155V	probably damaging	Het
Uggt1	A	T	1: 36,194,209 (GRCm39)	L1343Q	probably damaging	Het
Utp14b	T	C	1: 78,642,452 (GRCm39)	S117P	probably benign	Het
Vmn1r124	A	T	7: 20,994,436 (GRCm39)	V36D	probably damaging	Het
Wdr27	T	C	17: 15,148,658 (GRCm39)	T112A	probably benign	Het
Wdr90	T	C	17: 26,065,367 (GRCm39)	T1630A	probably benign	Het
Zfp352	A	G	4: 90,112,156 (GRCm39)	T99A	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
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
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'- TGTGTTCATTCAATGGAACCACACCT -3'
(R):5'- GGTGACTTCTCATCCTGTGCCCT -3'

Sequencing Primer
(F):5'- TTCAATGGAACCACACCTTGATAC -3'
(R):5'- agcatggctcagggattac -3'

Posted On

2013-07-30