Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Adamtsl3'

680367

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl3

Ensembl Gene

ENSMUSG00000070469

Gene Name

ADAMTS-like 3

Synonyms

9230119C12Rik, punctin-2

MMRRC Submission

068776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8932 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81984902-82263658 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82261069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 29 (P29S)

Ref Sequence

ENSEMBL: ENSMUSP00000134150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172784] [ENSMUST00000173287] [ENSMUST00000173828]

AlphaFold

G3UXC7

Predicted Effect

SMART Domains

Protein: ENSMUSP00000134150
Gene: ENSMUSG00000070469
AA Change: P29S

Domain	Start	End	E-Value	Type
Blast:TSP1	1	32	3e-16	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173287
AA Change: P1668S

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: P1668S

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

SMART Domains

Protein: ENSMUSP00000133337
Gene: ENSMUSG00000070469
AA Change: P742S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,629,693 (GRCm39)		probably null	Het
Abl2	A	G	1: 156,461,402 (GRCm39)	T435A	probably damaging	Het
Ass1	T	A	2: 31,382,387 (GRCm39)	M186K	probably damaging	Het
Bckdk	A	G	7: 127,507,182 (GRCm39)	D312G	probably benign	Het
Btg3	T	A	16: 78,170,298 (GRCm39)	N3I	probably benign	Het
Cd163	T	C	6: 124,294,882 (GRCm39)	F649L	probably damaging	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,110,780 (GRCm39)	V27E	probably damaging	Het
Col12a1	A	T	9: 79,580,665 (GRCm39)	S1512T	probably benign	Het
Cstf1	A	G	2: 172,217,623 (GRCm39)	T79A	probably benign	Het
Defa24	T	C	8: 22,225,373 (GRCm39)	Y88H	probably benign	Het
Dgkz	C	T	2: 91,769,915 (GRCm39)	R389Q	probably damaging	Het
Dsg3	T	A	18: 20,672,718 (GRCm39)	D796E	probably damaging	Het
Dyrk3	G	T	1: 131,057,293 (GRCm39)	D293E	probably damaging	Het
Epb42	T	C	2: 120,854,767 (GRCm39)	D606G	probably benign	Het
Erich5	G	A	15: 34,453,844 (GRCm39)	G18S	probably benign	Het
Fam8a1	C	T	13: 46,827,868 (GRCm39)	T352M	probably benign	Het
Fastkd3	T	A	13: 68,731,835 (GRCm39)	L52Q	probably benign	Het
Fat3	G	A	9: 15,910,819 (GRCm39)	H1728Y	probably benign	Het
Fgl1	A	G	8: 41,662,868 (GRCm39)	V39A	probably benign	Het
Gm7298	T	C	6: 121,742,030 (GRCm39)	V484A	probably benign	Het
Gpr75	A	G	11: 30,842,571 (GRCm39)	Q492R	possibly damaging	Het
Hoxc8	A	G	15: 102,899,318 (GRCm39)	H36R	possibly damaging	Het
Insyn2a	A	G	7: 134,500,881 (GRCm39)	I408T	probably damaging	Het
Insyn2b	T	C	11: 34,352,707 (GRCm39)	S250P	probably benign	Het
Isy1	T	C	6: 87,798,513 (GRCm39)	I214V	probably damaging	Het
Kdm5b	C	T	1: 134,544,010 (GRCm39)	P853L	probably damaging	Het
Man2b1	A	G	8: 85,822,022 (GRCm39)	T746A	probably damaging	Het
Mki67	A	G	7: 135,300,628 (GRCm39)	S1469P	possibly damaging	Het
Mrps30	C	T	13: 118,523,695 (GRCm39)	A26T	probably benign	Het
Mup10	T	A	4: 60,536,708 (GRCm39)	T92S	possibly damaging	Het
Otud7a	A	G	7: 63,407,239 (GRCm39)	D514G	possibly damaging	Het
Pacs1	T	A	19: 5,185,030 (GRCm39)	S932C	probably damaging	Het
Pbx2	C	T	17: 34,813,563 (GRCm39)	R188C	probably damaging	Het
Pclo	C	T	5: 14,762,989 (GRCm39)	P536S	possibly damaging	Het
Pdxdc1	A	T	16: 13,672,269 (GRCm39)	I377N	probably damaging	Het
Phip	T	C	9: 82,789,041 (GRCm39)	K758E	possibly damaging	Het
Pramel34	T	G	5: 93,785,944 (GRCm39)	D112A	probably benign	Het
Ptprm	C	T	17: 67,263,846 (GRCm39)	R467H	probably benign	Het
Rbm12b1	C	T	4: 12,145,689 (GRCm39)	R554C	probably benign	Het
Scnn1b	C	T	7: 121,502,067 (GRCm39)	R242C	probably damaging	Het
Seh1l	T	C	18: 67,908,134 (GRCm39)	S19P	possibly damaging	Het
Slc28a1	T	A	7: 80,817,715 (GRCm39)	V528D	probably benign	Het
Slc6a17	G	T	3: 107,379,507 (GRCm39)	Q554K	probably benign	Het
Spag16	G	A	1: 70,338,928 (GRCm39)		probably null	Het
Spata31d1e	C	T	13: 59,890,015 (GRCm39)	E184K	possibly damaging	Het
Srfbp1	T	A	18: 52,623,117 (GRCm39)	N377K	possibly damaging	Het
Stap2	A	G	17: 56,304,895 (GRCm39)	S296P	probably benign	Het
Tnr	A	T	1: 159,740,359 (GRCm39)	I1178F	probably damaging	Het
Tomt	C	T	7: 101,550,350 (GRCm39)	A139T	probably damaging	Het
Trak2	T	C	1: 58,974,967 (GRCm39)	Q75R	probably benign	Het
Tulp1	T	C	17: 28,583,468 (GRCm39)	K58E	probably benign	Het
Utp6	A	G	11: 79,834,055 (GRCm39)		probably null	Het
Vmn1r21	T	C	6: 57,820,998 (GRCm39)	T149A	probably benign	Het
Vmn1r238	C	T	18: 3,123,127 (GRCm39)	V96M	probably benign	Het
Vmn1r9	T	A	6: 57,048,666 (GRCm39)	I247N	probably damaging	Het
Vps33b	T	C	7: 79,932,241 (GRCm39)	C138R	possibly damaging	Het
Wnk1	A	T	6: 119,940,226 (GRCm39)	V837E	probably damaging	Het
Xirp2	C	T	2: 67,312,707 (GRCm39)	H59Y	possibly damaging	Het
Zbtb38	G	T	9: 96,568,434 (GRCm39)	D883E	probably benign	Het
Zbtb7a	C	A	10: 80,980,368 (GRCm39)	D187E	probably benign	Het
Zfp511	T	C	7: 139,617,442 (GRCm39)	V148A	probably damaging	Het
Zfp52	A	G	17: 21,780,692 (GRCm39)	D180G	possibly damaging	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
R0671:Adamtsl3	UTSW	7	82,172,390 (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
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'- ATTTCAGACCTGCCTTTGGAAG -3'
(R):5'- AGCACCATTGGCTTGCTCTTAG -3'

Sequencing Primer
(F):5'- CTTTGGAAGGAACTGCACCTTG -3'
(R):5'- GCTCTTAGCAGAGGAGACTG -3'

Posted On

2021-08-31