Mutagenetix > Incidental Mutation

Incidental Mutation 'R4947:Adamtsl1'

383484

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl1

Ensembl Gene

ENSMUSG00000066113

Gene Name

ADAMTS-like 1

Synonyms

punctin-1, 5930437A14Rik, 6720426B09Rik

MMRRC Submission

042544-MU

Accession Numbers

Essential gene?

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

Stock #

R4947 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85432409-86346622 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85683037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 36 (Q36L)

Ref Sequence

ENSEMBL: ENSMUSP00000148689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000213098]

AlphaFold

Q8BLI0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147066

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213098
AA Change: Q36L

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.4%

Validation Efficiency

100% (88/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,959,343 (GRCm39)	H119L	probably damaging	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Bcl2a1a	G	A	9: 88,839,335 (GRCm39)	E78K	probably damaging	Het
Cdk5rap2	A	G	4: 70,146,829 (GRCm39)		probably null	Het
Copg1	C	A	6: 87,880,455 (GRCm39)		probably benign	Het
Crb2	C	T	2: 37,685,343 (GRCm39)		probably benign	Het
Cstdc6	T	C	16: 36,142,127 (GRCm39)	Y83C	probably damaging	Het
Ctbp2	C	A	7: 132,601,012 (GRCm39)	G584C	probably damaging	Het
Cyp11b2	T	C	15: 74,723,419 (GRCm39)	N415S	possibly damaging	Het
D630003M21Rik	T	A	2: 158,028,116 (GRCm39)	T1095S	unknown	Het
D630045J12Rik	C	T	6: 38,125,478 (GRCm39)	R1512H	probably damaging	Het
Dnah5	T	A	15: 28,272,518 (GRCm39)	V1078E	probably benign	Het
Donson	A	T	16: 91,479,439 (GRCm39)	D366E	probably damaging	Het
Evpl	T	C	11: 116,114,201 (GRCm39)	E1163G	possibly damaging	Het
Fcgbp	A	G	7: 27,789,237 (GRCm39)	K601R	probably benign	Het
Fez1	A	C	9: 36,780,171 (GRCm39)	I323L	probably damaging	Het
Flacc1	T	A	1: 58,715,698 (GRCm39)	T173S	probably benign	Het
Fmnl2	T	G	2: 52,963,722 (GRCm39)	S285A	probably benign	Het
Frem1	A	G	4: 82,884,371 (GRCm39)	S1194P	probably damaging	Het
Gm10754	A	T	10: 97,518,010 (GRCm39)		probably benign	Het
Gm14226	A	T	2: 154,866,879 (GRCm39)	T279S	probably benign	Het
Gm16332	G	A	1: 139,793,730 (GRCm39)		noncoding transcript	Het
Gm21718	T	A	14: 51,553,416 (GRCm39)		noncoding transcript	Het
Gm9871	A	G	6: 101,773,734 (GRCm39)		noncoding transcript	Het
Grm1	A	G	10: 10,658,377 (GRCm39)	F371S	probably damaging	Het
Gtdc1	T	C	2: 44,481,968 (GRCm39)	I128V	probably null	Het
H2-Q3	T	A	17: 35,578,708 (GRCm39)		noncoding transcript	Het
Ibtk	T	C	9: 85,592,465 (GRCm39)	T998A	probably benign	Het
Ifi204	A	G	1: 173,583,316 (GRCm39)	S301P	probably damaging	Het
Kcnn1	C	A	8: 71,297,073 (GRCm39)	A545S	probably benign	Het
Keap1	T	G	9: 21,148,849 (GRCm39)	S53R	probably benign	Het
Lat	A	G	7: 125,967,110 (GRCm39)	V138A	probably benign	Het
Lrpprc	A	T	17: 85,078,966 (GRCm39)	N249K	probably benign	Het
Lrrc40	A	G	3: 157,769,472 (GRCm39)	I557V	probably benign	Het
Maml3	A	G	3: 51,763,960 (GRCm39)	F335L	probably benign	Het
Mcmbp	A	T	7: 128,314,420 (GRCm39)	D265E	probably damaging	Het
Me3	A	G	7: 89,282,222 (GRCm39)	H35R	probably benign	Het
Mif4gd	C	A	11: 115,500,463 (GRCm39)	V32L	probably benign	Het
Mlana	T	C	19: 29,677,551 (GRCm39)	S18P	probably damaging	Het
Mpnd	T	A	17: 56,317,268 (GRCm39)		probably benign	Het
Ms4a4b	T	C	19: 11,432,101 (GRCm39)	V74A	probably benign	Het
Mta2	T	C	19: 8,923,655 (GRCm39)	F133L	possibly damaging	Het
Myo5a	A	G	9: 75,030,330 (GRCm39)	M150V	probably damaging	Het
Nbr1	T	C	11: 101,465,903 (GRCm39)	V487A	probably benign	Het
Nos3	G	A	5: 24,582,853 (GRCm39)	C660Y	probably damaging	Het
Ocln	T	C	13: 100,676,223 (GRCm39)	D90G	probably damaging	Het
Or12d17	T	C	17: 37,777,634 (GRCm39)	V179A	probably damaging	Het
Or1e1c	C	T	11: 73,266,243 (GRCm39)	R223*	probably null	Het
Or52n5	A	G	7: 104,587,949 (GRCm39)	D72G	possibly damaging	Het
Or5h18	A	G	16: 58,847,808 (GRCm39)	L154P	probably damaging	Het
Pcdh7	A	G	5: 57,879,258 (GRCm39)	K938E	probably damaging	Het
Pcgf3	T	C	5: 108,635,827 (GRCm39)	F166L	probably benign	Het
Pid1	A	T	1: 84,015,981 (GRCm39)	V128E	possibly damaging	Het
Polr3a	A	C	14: 24,532,532 (GRCm39)	D187E	probably benign	Het
Prokr2	T	C	2: 132,215,573 (GRCm39)	D135G	probably damaging	Het
Rnf141	T	C	7: 110,424,527 (GRCm39)	T14A	possibly damaging	Het
Serinc1	T	C	10: 57,399,141 (GRCm39)	E254G	probably damaging	Het
Silc1	A	T	12: 27,210,227 (GRCm39)		noncoding transcript	Het
Skint11	T	C	4: 114,048,707 (GRCm39)	F11L	possibly damaging	Het
Slc22a28	T	C	19: 8,108,816 (GRCm39)	T109A	probably benign	Het
Sntg1	C	A	1: 8,853,022 (GRCm39)	V43L	probably damaging	Het
Sp140l2	G	A	1: 85,090,203 (GRCm39)	A124V	probably damaging	Het
Strn	T	C	17: 78,969,208 (GRCm39)	D398G	probably damaging	Het
Tacc2	A	T	7: 130,227,629 (GRCm39)	E1438V	probably damaging	Het
Tas2r139	A	G	6: 42,118,500 (GRCm39)	T211A	possibly damaging	Het
Tbkbp1	T	C	11: 97,029,770 (GRCm39)		probably benign	Het
Thbs3	T	C	3: 89,133,738 (GRCm39)	Y897H	probably damaging	Het
Timm50	G	T	7: 28,009,469 (GRCm39)		probably benign	Het
Tmem132a	T	C	19: 10,844,298 (GRCm39)	Q100R	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Unc93b1	C	A	19: 3,985,871 (GRCm39)	T90K	probably benign	Het
Upk3bl	T	C	5: 136,086,099 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,821,860 (GRCm39)	H179Q	probably benign	Het
Vmn2r57	A	T	7: 41,049,919 (GRCm39)	F610Y	probably damaging	Het
Vmn2r80	T	G	10: 79,030,532 (GRCm39)	L786R	probably damaging	Het
Zc3h14	A	G	12: 98,726,083 (GRCm39)	T323A	probably benign	Het
Zfp532	T	C	18: 65,758,137 (GRCm39)	I690T	possibly damaging	Het
Zfp729b	T	C	13: 67,744,791 (GRCm39)	N47S	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
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'- AGAATGTTCTCGTGCCTCTCAC -3'
(R):5'- GATCCTGCTCTATGGCTTGC -3'

Sequencing Primer
(F):5'- CTCGTGCCTCTCACATTAATATG -3'
(R):5'- GTTTGCTAGAAACAATCACCATGGG -3'

Posted On

2016-04-27