Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02373:Adamtsl1'

290992

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02373

Quality Score

Status

Chromosome

Chromosomal Location

85432409-86346622 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86168042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 462 (L462F)

Ref Sequence

ENSEMBL: ENSMUSP00000119278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048885] [ENSMUST00000107178] [ENSMUST00000141889]

AlphaFold

Q8BLI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000048885
AA Change: L462F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043073
Gene: ENSMUSG00000066113
AA Change: L462F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107178
AA Change: L445F

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

SMART Domains

Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: L445F

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 benign
Transcript: ENSMUST00000136320

SMART Domains

Protein: ENSMUSP00000123343
Gene: ENSMUSG00000066113

Domain	Start	End	E-Value	Type
Pfam:ADAM_spacer1	15	125	2.7e-7	PFAM
TSP1	130	189	4.35e-2	SMART
TSP1	191	239	1.36e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000141889
AA Change: L462F

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

SMART Domains

Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: L462F

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,607,832 (GRCm39)	D4080G	possibly damaging	Het
Apc	A	C	18: 34,449,212 (GRCm39)	D2002A	probably damaging	Het
Apobr	T	A	7: 126,184,563 (GRCm39)	F25I	probably damaging	Het
Cyp4a10	T	A	4: 115,378,274 (GRCm39)	L120*	probably null	Het
Daam2	A	G	17: 49,780,408 (GRCm39)	S704P	probably damaging	Het
Dcst1	G	T	3: 89,265,198 (GRCm39)	N217K	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fmn1	C	A	2: 113,194,471 (GRCm39)	P57Q	unknown	Het
Galnt1	G	A	18: 24,413,092 (GRCm39)	G464D	possibly damaging	Het
Ggcx	T	A	6: 72,404,902 (GRCm39)	W437R	probably damaging	Het
Igkv13-54-1	T	C	6: 69,594,304 (GRCm39)		noncoding transcript	Het
Iglon5	T	C	7: 43,128,643 (GRCm39)	E58G	probably benign	Het
Met	C	T	6: 17,491,528 (GRCm39)	P97S	probably damaging	Het
Msantd5f6	T	C	4: 73,321,880 (GRCm39)	M52V	probably benign	Het
Myg1	T	A	15: 102,245,268 (GRCm39)	M158K	probably damaging	Het
Ncald	T	A	15: 37,372,453 (GRCm39)	M131L	probably benign	Het
Nipa2	T	C	7: 55,582,876 (GRCm39)	I290V	probably benign	Het
Or4f14b	C	A	2: 111,775,178 (GRCm39)	V208L	probably benign	Het
Or5p79	A	T	7: 108,221,310 (GRCm39)	Y97F	probably benign	Het
Or6c219	A	G	10: 129,781,334 (GRCm39)	L84S	probably benign	Het
Ppfia3	C	T	7: 45,008,273 (GRCm39)	R48Q	probably damaging	Het
Rab12	A	G	17: 66,805,060 (GRCm39)	L156P	probably damaging	Het
Slc28a3	C	T	13: 58,726,218 (GRCm39)		probably null	Het
Slc4a11	T	C	2: 130,526,818 (GRCm39)	N770S	probably benign	Het
Tanc1	T	C	2: 59,626,372 (GRCm39)		probably null	Het
Vmn2r130	A	T	17: 23,295,866 (GRCm39)	R679*	probably null	Het
Vwa5b2	G	A	16: 20,423,594 (GRCm39)	R1169H	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
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
R4942:Adamtsl1	UTSW	4	86,259,451 (GRCm39)	nonsense	probably null
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

Posted On

2015-04-16