Mutagenetix > Incidental Mutation

Incidental Mutation 'R4942:Adamtsl1'

383173

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl1

Ensembl Gene

ENSMUSG00000066113

Gene Name

ADAMTS-like 1

Synonyms

punctin-1, 5930437A14Rik, 6720426B09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R4942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85432409-86346622 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 86259451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 824 (C824*)

Ref Sequence

ENSEMBL: ENSMUSP00000119278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107178] [ENSMUST00000141889]

AlphaFold

Q8BLI0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107177

Predicted Effect

probably null
Transcript: ENSMUST00000107178
AA Change: C832*

SMART Domains

Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: C832*

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
TSP1	36	82	8.95e-7	SMART
TSP1	301	360	4.35e-2	SMART
TSP1	362	421	2.05e-2	SMART
TSP1	422	476	3.99e-4	SMART
TSP1	508	567	6.39e-3	SMART
TSP1	593	650	7.86e-3	SMART
TSP1	652	712	3.78e-5	SMART
TSP1	715	772	2.66e-2	SMART
TSP1	774	833	1.62e-4	SMART
IGc2	873	937	4.19e-6	SMART
low complexity region	1123	1142	N/A	INTRINSIC
IGc2	1175	1240	1.31e-7	SMART
IGc2	1282	1351	7.81e-15	SMART
IGc2	1400	1467	2.39e-10	SMART
TSP1	1481	1537	2.12e-1	SMART
TSP1	1540	1599	1.74e-4	SMART
TSP1	1600	1658	8.2e0	SMART
TSP1	1660	1717	1.96e-1	SMART
Pfam:PLAC	1721	1751	1.4e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000141889
AA Change: C824*

SMART Domains

Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: C824*

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
TSP1	36	82	8.95e-7	SMART
TSP1	301	360	4.35e-2	SMART
TSP1	379	438	2.05e-2	SMART
TSP1	439	493	3.99e-4	SMART
TSP1	525	584	6.39e-3	SMART
TSP1	610	667	7.86e-3	SMART
TSP1	707	764	2.66e-2	SMART
TSP1	766	825	1.62e-4	SMART
IGc2	865	929	4.19e-6	SMART
low complexity region	1115	1134	N/A	INTRINSIC
IGc2	1167	1232	1.31e-7	SMART
IGc2	1274	1343	7.81e-15	SMART
IGc2	1392	1459	2.39e-10	SMART
TSP1	1473	1529	2.12e-1	SMART
TSP1	1532	1591	1.74e-4	SMART
TSP1	1592	1650	8.2e0	SMART
TSP1	1652	1709	1.96e-1	SMART
Pfam:PLAC	1712	1744	5.6e-12	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,720,472 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,045,364 (GRCm39)	S23P	probably benign	Het
Adgre1	A	G	17: 57,713,903 (GRCm39)	Y196C	probably damaging	Het
Arap1	A	G	7: 101,051,009 (GRCm39)	D542G	possibly damaging	Het
B3gat1	A	G	9: 26,666,894 (GRCm39)	D42G	probably benign	Het
Birc6	G	A	17: 74,930,045 (GRCm39)	A2412T	probably damaging	Het
Bnip5	T	C	17: 29,122,232 (GRCm39)	R420G	probably benign	Het
Bsn	A	G	9: 107,983,678 (GRCm39)	Y3459H	unknown	Het
Cacnb1	T	C	11: 97,893,809 (GRCm39)	Y571C	probably damaging	Het
Cdk2ap2	G	A	19: 4,147,508 (GRCm39)		probably null	Het
Cep57	A	G	9: 13,724,723 (GRCm39)	S265P	probably damaging	Het
Clca3a1	A	G	3: 144,710,524 (GRCm39)	I893T	probably benign	Het
Clca3a2	T	A	3: 144,512,263 (GRCm39)	E491V	probably damaging	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Cobl	A	T	11: 12,204,185 (GRCm39)	I832N	probably damaging	Het
Col9a2	T	C	4: 120,910,316 (GRCm39)	V487A	possibly damaging	Het
Cse1l	C	T	2: 166,771,714 (GRCm39)	T325I	probably damaging	Het
Dlx6	A	G	6: 6,863,468 (GRCm39)	Q30R	probably benign	Het
Dnah8	T	C	17: 30,948,116 (GRCm39)	V1902A	probably benign	Het
Dusp8	A	G	7: 141,635,965 (GRCm39)	F542L	possibly damaging	Het
Emid1	T	G	11: 5,079,430 (GRCm39)	M323L	probably benign	Het
Ercc5	A	G	1: 44,215,125 (GRCm39)	D886G	probably benign	Het
Fam184b	T	C	5: 45,730,649 (GRCm39)	E461G	probably damaging	Het
Fbn1	C	A	2: 125,225,536 (GRCm39)	C572F	possibly damaging	Het
Gigyf1	G	T	5: 137,523,952 (GRCm39)	V1041L	possibly damaging	Het
Grin3b	A	G	10: 79,811,556 (GRCm39)	H714R	probably damaging	Het
Heatr1	A	G	13: 12,428,391 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lypd6b	C	A	2: 49,836,132 (GRCm39)	H104Q	probably benign	Het
Man1a	A	T	10: 53,809,586 (GRCm39)		probably null	Het
Megf6	A	T	4: 154,338,277 (GRCm39)	D449V	probably damaging	Het
Mtor	T	C	4: 148,556,599 (GRCm39)	V1003A	probably benign	Het
Ncan	C	A	8: 70,552,944 (GRCm39)	W1096L	probably damaging	Het
Ndor1	C	T	2: 25,138,133 (GRCm39)		probably null	Het
Ndufaf1	T	C	2: 119,490,547 (GRCm39)	E171G	possibly damaging	Het
Nell1	T	C	7: 49,770,397 (GRCm39)	V152A	possibly damaging	Het
Nherf4	C	A	9: 44,159,915 (GRCm39)	G402*	probably null	Het
Nt5dc1	A	T	10: 34,198,673 (GRCm39)	V255E	probably damaging	Het
Or2a20	T	A	6: 43,193,928 (GRCm39)	F27Y	probably damaging	Het
Or2y1b	A	T	11: 49,208,375 (GRCm39)	M1L	probably null	Het
Or52h7	A	G	7: 104,214,212 (GRCm39)	I261M	probably benign	Het
Or52z14	G	A	7: 103,253,401 (GRCm39)	R180H	probably benign	Het
Otud7a	T	C	7: 63,407,171 (GRCm39)	I50T	probably damaging	Het
P2ry13	G	A	3: 59,116,983 (GRCm39)	T265I	probably benign	Het
Pde4d	A	G	13: 108,996,733 (GRCm39)	S12G	probably benign	Het
Pigk	C	A	3: 152,450,154 (GRCm39)	N219K	probably damaging	Het
Plcg1	T	A	2: 160,595,509 (GRCm39)		probably null	Het
Psd2	A	T	18: 36,111,717 (GRCm39)	D114V	probably damaging	Het
Ptch1	A	T	13: 63,672,884 (GRCm39)	I770N	probably benign	Het
Ptprq	A	T	10: 107,524,290 (GRCm39)	M481K	probably benign	Het
Rnf216	A	C	5: 143,078,814 (GRCm39)	M45R	probably damaging	Het
Rpsa	T	A	9: 119,960,129 (GRCm39)	W231R	probably benign	Het
Ryr1	G	T	7: 28,768,998 (GRCm39)	T2797N	probably damaging	Het
Ryr3	A	T	2: 112,666,602 (GRCm39)	M1468K	probably damaging	Het
Slc6a7	A	G	18: 61,137,589 (GRCm39)	Y244H	probably damaging	Het
Slco6c1	T	A	1: 97,009,049 (GRCm39)	D462V	probably damaging	Het
Spata31d1b	A	T	13: 59,864,917 (GRCm39)	E688D	possibly damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Tnrc18	A	T	5: 142,773,737 (GRCm39)	I181N	unknown	Het
Tnrc6a	T	C	7: 122,791,836 (GRCm39)	F1785L	probably damaging	Het
Trio	A	T	15: 27,752,811 (GRCm39)	D2174E	probably benign	Het
Ttn	C	T	2: 76,623,600 (GRCm39)	V15326I	probably damaging	Het
Ubap2	T	A	4: 41,245,461 (GRCm39)		probably benign	Het
Vmn2r113	C	T	17: 23,177,321 (GRCm39)	P702S	probably damaging	Het
Vmn2r66	A	T	7: 84,656,980 (GRCm39)	W142R	probably damaging	Het
Vmn2r73	A	G	7: 85,519,582 (GRCm39)	Y459H	probably damaging	Het
Wsb2	C	T	5: 117,515,550 (GRCm39)	T385M	probably damaging	Het

Other mutations in Adamtsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Adamtsl1	APN	4	86,303,877 (GRCm39)	missense	probably benign	0.01
IGL00741:Adamtsl1	APN	4	86,195,185 (GRCm39)	missense	probably damaging	1.00
IGL00770:Adamtsl1	APN	4	86,306,776 (GRCm39)	missense	possibly damaging	0.65
IGL00774:Adamtsl1	APN	4	86,306,776 (GRCm39)	missense	possibly damaging	0.65
IGL00826:Adamtsl1	APN	4	86,075,041 (GRCm39)	missense	probably damaging	1.00
IGL00938:Adamtsl1	APN	4	86,260,515 (GRCm39)	missense	possibly damaging	0.93
IGL01012:Adamtsl1	APN	4	86,260,426 (GRCm39)	missense	possibly damaging	0.93
IGL01728:Adamtsl1	APN	4	86,029,074 (GRCm39)	missense	probably damaging	1.00
IGL01801:Adamtsl1	APN	4	86,117,559 (GRCm39)	missense	probably benign	0.23
IGL01922:Adamtsl1	APN	4	86,168,139 (GRCm39)	missense	probably damaging	1.00
IGL02006:Adamtsl1	APN	4	86,117,582 (GRCm39)	missense	probably damaging	1.00
IGL02192:Adamtsl1	APN	4	86,146,253 (GRCm39)	missense	probably damaging	1.00
IGL02351:Adamtsl1	APN	4	86,075,110 (GRCm39)	critical splice donor site	probably null
IGL02358:Adamtsl1	APN	4	86,075,110 (GRCm39)	critical splice donor site	probably null
IGL02373:Adamtsl1	APN	4	86,168,042 (GRCm39)	missense	probably damaging	1.00
IGL02660:Adamtsl1	APN	4	86,150,847 (GRCm39)	missense	probably damaging	1.00
IGL02964:Adamtsl1	APN	4	86,342,594 (GRCm39)	missense	probably damaging	1.00
IGL03233:Adamtsl1	APN	4	86,260,357 (GRCm39)	missense	probably damaging	1.00
IGL03297:Adamtsl1	APN	4	86,341,663 (GRCm39)	missense	probably damaging	0.98
IGL03326:Adamtsl1	APN	4	86,170,985 (GRCm39)	splice site	probably benign
PIT4378001:Adamtsl1	UTSW	4	86,117,601 (GRCm39)	missense	possibly damaging	0.93
PIT4418001:Adamtsl1	UTSW	4	86,161,961 (GRCm39)	missense	probably damaging	1.00
R0131:Adamtsl1	UTSW	4	86,260,960 (GRCm39)	missense	possibly damaging	0.94
R0131:Adamtsl1	UTSW	4	86,260,960 (GRCm39)	missense	possibly damaging	0.94
R0132:Adamtsl1	UTSW	4	86,260,960 (GRCm39)	missense	possibly damaging	0.94
R0453:Adamtsl1	UTSW	4	86,150,852 (GRCm39)	missense	probably damaging	1.00
R0480:Adamtsl1	UTSW	4	86,171,055 (GRCm39)	missense	probably benign	0.08
R0496:Adamtsl1	UTSW	4	86,259,435 (GRCm39)	missense	probably damaging	1.00
R0538:Adamtsl1	UTSW	4	86,261,358 (GRCm39)	missense	probably benign	0.27
R0547:Adamtsl1	UTSW	4	86,274,592 (GRCm39)	missense	probably benign	0.37
R0567:Adamtsl1	UTSW	4	86,146,253 (GRCm39)	missense	probably damaging	1.00
R0568:Adamtsl1	UTSW	4	86,336,789 (GRCm39)	missense	probably damaging	1.00
R0639:Adamtsl1	UTSW	4	86,195,380 (GRCm39)	missense	probably damaging	1.00
R0931:Adamtsl1	UTSW	4	86,168,084 (GRCm39)	missense	probably benign	0.05
R1186:Adamtsl1	UTSW	4	86,306,746 (GRCm39)	missense	probably benign	0.00
R1387:Adamtsl1	UTSW	4	86,293,230 (GRCm39)	splice site	probably benign
R1459:Adamtsl1	UTSW	4	86,344,102 (GRCm39)	missense	probably damaging	1.00
R1518:Adamtsl1	UTSW	4	86,260,840 (GRCm39)	missense	probably damaging	0.99
R1532:Adamtsl1	UTSW	4	86,166,302 (GRCm39)	missense	probably benign	0.02
R1603:Adamtsl1	UTSW	4	86,333,767 (GRCm39)	missense	probably benign
R1931:Adamtsl1	UTSW	4	86,260,648 (GRCm39)	missense	possibly damaging	0.62
R2086:Adamtsl1	UTSW	4	86,146,249 (GRCm39)	missense	probably damaging	1.00
R2221:Adamtsl1	UTSW	4	86,306,762 (GRCm39)	missense	probably benign	0.19
R2223:Adamtsl1	UTSW	4	86,306,762 (GRCm39)	missense	probably benign	0.19
R2396:Adamtsl1	UTSW	4	86,261,356 (GRCm39)	nonsense	probably null
R2397:Adamtsl1	UTSW	4	86,117,594 (GRCm39)	missense	probably damaging	1.00
R2426:Adamtsl1	UTSW	4	86,075,025 (GRCm39)	missense	probably benign	0.01
R3121:Adamtsl1	UTSW	4	86,255,246 (GRCm39)	missense	probably damaging	1.00
R3715:Adamtsl1	UTSW	4	86,135,213 (GRCm39)	missense	probably benign	0.01
R3848:Adamtsl1	UTSW	4	86,336,783 (GRCm39)	missense	probably damaging	1.00
R3849:Adamtsl1	UTSW	4	86,336,783 (GRCm39)	missense	probably damaging	1.00
R3850:Adamtsl1	UTSW	4	86,336,783 (GRCm39)	missense	probably damaging	1.00
R4194:Adamtsl1	UTSW	4	85,972,245 (GRCm39)	intron	probably benign
R4354:Adamtsl1	UTSW	4	86,074,921 (GRCm39)	missense	probably damaging	1.00
R4795:Adamtsl1	UTSW	4	86,162,006 (GRCm39)	critical splice donor site	probably null
R4830:Adamtsl1	UTSW	4	86,274,619 (GRCm39)	missense	probably damaging	0.97
R4874:Adamtsl1	UTSW	4	86,260,729 (GRCm39)	missense	possibly damaging	0.94
R4939:Adamtsl1	UTSW	4	86,161,962 (GRCm39)	missense	possibly damaging	0.95
R4947:Adamtsl1	UTSW	4	85,683,037 (GRCm39)	missense	possibly damaging	0.93
R4960:Adamtsl1	UTSW	4	86,342,410 (GRCm39)	nonsense	probably null
R4971:Adamtsl1	UTSW	4	86,255,168 (GRCm39)	missense	probably damaging	1.00
R5141:Adamtsl1	UTSW	4	86,075,087 (GRCm39)	missense	possibly damaging	0.77
R5213:Adamtsl1	UTSW	4	86,303,865 (GRCm39)	missense	possibly damaging	0.89
R5237:Adamtsl1	UTSW	4	86,303,906 (GRCm39)	critical splice donor site	probably null
R5250:Adamtsl1	UTSW	4	86,135,182 (GRCm39)	nonsense	probably null
R5411:Adamtsl1	UTSW	4	86,306,650 (GRCm39)	critical splice acceptor site	probably null
R5554:Adamtsl1	UTSW	4	86,195,182 (GRCm39)	missense	possibly damaging	0.69
R5631:Adamtsl1	UTSW	4	86,195,160 (GRCm39)	nonsense	probably null
R5739:Adamtsl1	UTSW	4	86,150,901 (GRCm39)	missense	probably damaging	1.00
R5905:Adamtsl1	UTSW	4	86,260,561 (GRCm39)	missense	probably damaging	1.00
R6028:Adamtsl1	UTSW	4	86,260,561 (GRCm39)	missense	probably damaging	1.00
R6044:Adamtsl1	UTSW	4	86,130,928 (GRCm39)	missense	probably damaging	1.00
R6261:Adamtsl1	UTSW	4	86,255,115 (GRCm39)	missense	probably benign	0.09
R6300:Adamtsl1	UTSW	4	86,166,254 (GRCm39)	missense	probably damaging	1.00
R6332:Adamtsl1	UTSW	4	86,135,248 (GRCm39)	missense	probably damaging	0.96
R6560:Adamtsl1	UTSW	4	86,255,130 (GRCm39)	missense	probably damaging	1.00
R6693:Adamtsl1	UTSW	4	86,261,123 (GRCm39)	missense	probably benign	0.27
R6736:Adamtsl1	UTSW	4	86,260,484 (GRCm39)	missense	probably damaging	1.00
R6964:Adamtsl1	UTSW	4	86,075,091 (GRCm39)	missense	probably damaging	1.00
R7064:Adamtsl1	UTSW	4	86,260,278 (GRCm39)	missense	possibly damaging	0.80
R7434:Adamtsl1	UTSW	4	86,344,115 (GRCm39)	missense	probably damaging	0.99
R7477:Adamtsl1	UTSW	4	86,333,888 (GRCm39)	missense	probably damaging	1.00
R7545:Adamtsl1	UTSW	4	85,683,092 (GRCm39)	missense	probably damaging	1.00
R7556:Adamtsl1	UTSW	4	86,195,358 (GRCm39)	missense	probably benign	0.19
R7580:Adamtsl1	UTSW	4	85,972,301 (GRCm39)	missense	possibly damaging	0.53
R7593:Adamtsl1	UTSW	4	86,259,450 (GRCm39)	missense	probably damaging	1.00
R7710:Adamtsl1	UTSW	4	86,150,810 (GRCm39)	missense
R7908:Adamtsl1	UTSW	4	86,274,676 (GRCm39)	missense	probably benign	0.02
R7934:Adamtsl1	UTSW	4	86,161,962 (GRCm39)	missense	probably damaging	1.00
R8056:Adamtsl1	UTSW	4	86,260,269 (GRCm39)	missense	possibly damaging	0.76
R8109:Adamtsl1	UTSW	4	86,166,306 (GRCm39)	missense
R8143:Adamtsl1	UTSW	4	86,260,492 (GRCm39)	missense	possibly damaging	0.71
R8205:Adamtsl1	UTSW	4	86,117,650 (GRCm39)	makesense	probably null
R8215:Adamtsl1	UTSW	4	86,261,382 (GRCm39)	missense	probably benign	0.45
R8250:Adamtsl1	UTSW	4	86,260,846 (GRCm39)	missense	probably damaging	1.00
R8261:Adamtsl1	UTSW	4	86,195,120 (GRCm39)	missense	probably damaging	0.99
R8417:Adamtsl1	UTSW	4	86,074,926 (GRCm39)	missense	possibly damaging	0.81
R8494:Adamtsl1	UTSW	4	86,240,221 (GRCm39)	missense	probably damaging	0.99
R8516:Adamtsl1	UTSW	4	86,260,780 (GRCm39)	missense	probably damaging	1.00
R8525:Adamtsl1	UTSW	4	86,195,247 (GRCm39)	missense	probably damaging	1.00
R8688:Adamtsl1	UTSW	4	86,166,263 (GRCm39)	missense
R8698:Adamtsl1	UTSW	4	86,306,714 (GRCm39)	missense	probably benign	0.01
R8778:Adamtsl1	UTSW	4	85,432,687 (GRCm39)	missense	probably benign	0.01
R9015:Adamtsl1	UTSW	4	86,150,847 (GRCm39)	missense	probably damaging	1.00
R9127:Adamtsl1	UTSW	4	86,208,027 (GRCm39)	missense	probably benign
R9326:Adamtsl1	UTSW	4	86,150,804 (GRCm39)	missense	possibly damaging	0.70
R9336:Adamtsl1	UTSW	4	86,240,264 (GRCm39)	missense	probably benign	0.00
R9394:Adamtsl1	UTSW	4	86,135,225 (GRCm39)	missense
R9416:Adamtsl1	UTSW	4	86,342,477 (GRCm39)	missense	probably damaging	1.00
R9571:Adamtsl1	UTSW	4	86,117,543 (GRCm39)	missense	probably benign	0.00
R9627:Adamtsl1	UTSW	4	86,306,762 (GRCm39)	missense	possibly damaging	0.48
R9675:Adamtsl1	UTSW	4	86,161,989 (GRCm39)	missense	probably damaging	1.00
R9798:Adamtsl1	UTSW	4	86,074,927 (GRCm39)	missense	probably damaging	0.98
Z1176:Adamtsl1	UTSW	4	86,260,930 (GRCm39)	missense	probably benign	0.30
Z1176:Adamtsl1	UTSW	4	86,260,414 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGGACCATTCAGAACAACCATG -3'
(R):5'- ACCCGAGTGACTACGATTCC -3'

Sequencing Primer
(F):5'- CCATGAGACTCTATCTAGTTCAGGG -3'
(R):5'- GAGTGACTACGATTCCCTTTCATC -3'

Posted On

2016-04-27