Mutagenetix > Incidental Mutation

Incidental Mutation 'R9675:Adamtsl1'

728295

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl1

Ensembl Gene

ENSMUSG00000066113

Gene Name

ADAMTS-like 1

Synonyms

punctin-1, 5930437A14Rik, 6720426B09Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9675 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85432409-86346622 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86161989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 374 (Y374S)

Ref Sequence

ENSEMBL: ENSMUSP00000043073 (fasta)

Gene Model

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

AlphaFold

Q8BLI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000048885
AA Change: Y374S

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

SMART Domains

Protein: ENSMUSP00000043073
Gene: ENSMUSG00000066113
AA Change: Y374S

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 benign
Transcript: ENSMUST00000107178

SMART Domains

Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113

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: Y374S

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

SMART Domains

Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: Y374S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	T	5: 113,339,827 (GRCm39)	P62T	probably damaging	Het
Aadacl2fm3	C	T	3: 59,784,538 (GRCm39)	T337I	probably damaging	Het
Abtb2	T	C	2: 103,538,532 (GRCm39)	F654L	probably benign	Het
Acta2	A	T	19: 34,223,612 (GRCm39)	V161E		Het
Apc	A	G	18: 34,449,247 (GRCm39)	K2048E	probably damaging	Het
Arhgef4	C	A	1: 34,845,108 (GRCm39)	D66E	probably benign	Het
Arsj	T	A	3: 126,231,765 (GRCm39)	H170Q	probably damaging	Het
Bmpr1b	T	C	3: 141,563,321 (GRCm39)	K208E	probably benign	Het
Brd4	A	T	17: 32,433,786 (GRCm39)	M459K	unknown	Het
Btnl10	T	A	11: 58,814,442 (GRCm39)	L374Q	probably damaging	Het
Cadm1	C	T	9: 47,441,752 (GRCm39)	R28W	probably damaging	Het
Cts7	A	T	13: 61,504,371 (GRCm39)	M64K	probably benign	Het
Dmbt1	T	C	7: 130,712,652 (GRCm39)	L1552P	probably damaging	Het
Dnaaf6rt	G	A	1: 31,262,644 (GRCm39)	V209I	probably benign	Het
Dock4	TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC	TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC	12: 40,894,379 (GRCm39)		probably benign	Het
Dock4	TGCCGG	TGCCGGAGCCGG	12: 40,894,393 (GRCm39)		probably benign	Het
Dusp4	G	A	8: 35,274,964 (GRCm39)	G28S	probably benign	Het
Fez2	A	G	17: 78,686,169 (GRCm39)	C373R	possibly damaging	Het
Fibin	T	C	2: 110,192,495 (GRCm39)	T216A	probably benign	Het
Gad1	G	A	2: 70,416,200 (GRCm39)	V220M	probably damaging	Het
Hsd17b13	A	G	5: 104,111,709 (GRCm39)	L278S	probably benign	Het
Hyal5	G	T	6: 24,876,635 (GRCm39)	E169D	probably benign	Het
Ighv1-15	A	T	12: 114,620,981 (GRCm39)	C115S	probably damaging	Het
Msl2	T	C	9: 100,978,555 (GRCm39)	S310P	probably benign	Het
Mss51	A	G	14: 20,537,189 (GRCm39)	M93T	probably damaging	Het
Npas2	T	C	1: 39,364,446 (GRCm39)	F263L	probably damaging	Het
Ogfod2	T	C	5: 124,252,452 (GRCm39)	V177A	probably damaging	Het
Or1s2	T	G	19: 13,758,639 (GRCm39)	V219G	possibly damaging	Het
Or9a4	A	G	6: 40,548,559 (GRCm39)	M80V	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pkd2l1	G	T	19: 44,137,696 (GRCm39)	Q713K	probably benign	Het
Rasgrp1	T	A	2: 117,173,190 (GRCm39)	M1L	probably benign	Het
Rnf167	T	A	11: 70,541,032 (GRCm39)	H219Q	possibly damaging	Het
Spatc1	T	A	15: 76,152,520 (GRCm39)	I50N	probably damaging	Het
Tcf20	T	C	15: 82,740,986 (GRCm39)	Y155C	probably damaging	Het
Tfpt	T	A	7: 3,623,981 (GRCm39)	D142V	probably damaging	Het
Trp53bp1	A	G	2: 121,087,089 (GRCm39)	V189A	probably benign	Het
Ttbk2	T	G	2: 120,637,241 (GRCm39)	Q141H	probably benign	Het
Zbtb21	A	G	16: 97,752,945 (GRCm39)	V474A	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
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
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'- GTCTTCAAAGGCCTTTCCCCAG -3'
(R):5'- CGGCCAGGATTACTCAAGAG -3'

Sequencing Primer
(F):5'- TTTCCCCAGCCTACAACATATGCTAG -3'
(R):5'- ACGGCTCTGCATTGTTAC -3'

Posted On

2022-10-06