Mutagenetix > Incidental Mutation

Incidental Mutation 'R7454:Adamts10'

578033

Institutional Source

Beutler Lab

Gene Symbol

Adamts10

Ensembl Gene

ENSMUSG00000024299

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 10

Synonyms

ZnMP

MMRRC Submission

045528-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R7454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33743178-33772756 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33763979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 616 (F616L)

Ref Sequence

ENSEMBL: ENSMUSP00000084905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087623] [ENSMUST00000172922] [ENSMUST00000173013] [ENSMUST00000173030] [ENSMUST00000173241] [ENSMUST00000173931]

AlphaFold

P58459

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087623
AA Change: F616L

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084905
Gene: ENSMUSG00000024299
AA Change: F616L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	40	180	1.3e-33	PFAM
Pfam:Reprolysin_5	237	432	5e-15	PFAM
Pfam:Reprolysin_4	237	448	5e-11	PFAM
Pfam:Reprolysin	239	457	1.6e-25	PFAM
Pfam:Reprolysin_2	257	447	1.2e-13	PFAM
Pfam:Reprolysin_3	261	403	5.7e-13	PFAM
TSP1	550	602	7.21e-11	SMART
Pfam:ADAM_spacer1	706	818	1.3e-27	PFAM
TSP1	828	885	4.73e-6	SMART
TSP1	887	940	4.35e-2	SMART
TSP1	948	1003	2.66e-2	SMART
TSP1	1006	1058	9.98e-5	SMART
Pfam:PLAC	1070	1102	8.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172922

SMART Domains

Protein: ENSMUSP00000133891
Gene: ENSMUSG00000024299

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	180	1.1e-30	PFAM
SCOP:d1bkca_	238	271	4e-7	SMART
low complexity region	285	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173013

SMART Domains

Protein: ENSMUSP00000134181
Gene: ENSMUSG00000024299

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	180	9.6e-31	PFAM
SCOP:d1bkca_	238	271	3e-7	SMART
low complexity region	285	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173030

SMART Domains

Protein: ENSMUSP00000134549
Gene: ENSMUSG00000024299

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	180	9.6e-31	PFAM
SCOP:d1bkca_	238	271	3e-7	SMART
low complexity region	285	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173241

SMART Domains

Protein: ENSMUSP00000134298
Gene: ENSMUSG00000024299

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	180	9.6e-31	PFAM
SCOP:d1bkca_	238	271	3e-7	SMART
low complexity region	285	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173931

SMART Domains

Protein: ENSMUSP00000133434
Gene: ENSMUSG00000024299

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	180	9.6e-31	PFAM
SCOP:d1bkca_	238	271	3e-7	SMART
low complexity region	285	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174348

SMART Domains

Protein: ENSMUSP00000133856
Gene: ENSMUSG00000024299

Domain	Start	End	E-Value	Type
Pfam:Reprolysin_5	23	220	2.6e-16	PFAM
Pfam:Reprolysin_4	23	235	2.6e-12	PFAM
Pfam:Reprolysin	25	243	1e-26	PFAM
Pfam:Reprolysin_2	43	233	7.1e-15	PFAM
Pfam:Reprolysin_3	47	189	4.7e-14	PFAM

Meta Mutation Damage Score

0.4421

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (90/90)

MGI Phenotype

FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate a functional, zinc-dependent metallopeptidase enzyme. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,655,601 (GRCm39)	E57G	possibly damaging	Het
4932414N04Rik	C	A	2: 68,518,648 (GRCm39)	T159K	unknown	Het
Adtrp	G	A	13: 41,981,791 (GRCm39)	S26L	unknown	Het
Alpk3	A	C	7: 80,728,310 (GRCm39)	E480A	probably benign	Het
Anks6	T	C	4: 47,038,919 (GRCm39)	T529A	unknown	Het
Arl4d	A	G	11: 101,557,486 (GRCm39)	H4R	probably benign	Het
Ash1l	A	G	3: 88,891,172 (GRCm39)	H1017R	probably benign	Het
Bbs12	T	C	3: 37,375,102 (GRCm39)	S517P	possibly damaging	Het
Bcl11b	C	A	12: 107,882,467 (GRCm39)	R616L	possibly damaging	Het
Bean1	G	A	8: 104,937,658 (GRCm39)	G79D	probably damaging	Het
Bicra	C	G	7: 15,706,059 (GRCm39)	G1461R	probably benign	Het
Bptf	T	C	11: 106,935,466 (GRCm39)	T124A	probably benign	Het
Btnl4	A	T	17: 34,691,348 (GRCm39)	V312E	probably benign	Het
Ccdc7a	A	G	8: 129,670,997 (GRCm39)	M503T	unknown	Het
Celf5	T	C	10: 81,318,357 (GRCm39)	E28G	probably damaging	Het
Cilp2	G	A	8: 70,336,040 (GRCm39)	L350F	probably damaging	Het
Clec4a2	T	C	6: 123,119,411 (GRCm39)	I245T	probably damaging	Het
Ctnnal1	A	T	4: 56,844,544 (GRCm39)	V140D	probably damaging	Het
Dennd4a	A	C	9: 64,759,852 (GRCm39)	H319P	probably damaging	Het
Dlgap3	G	T	4: 127,128,852 (GRCm39)	L857F	probably null	Het
Dnah6	T	A	6: 73,189,475 (GRCm39)	T58S	probably damaging	Het
Dnah7a	T	A	1: 53,557,923 (GRCm39)	M2164L	probably benign	Het
Dspp	T	A	5: 104,323,476 (GRCm39)	H206Q	probably benign	Het
Dzip1l	G	A	9: 99,541,727 (GRCm39)	V443M	possibly damaging	Het
Erc2	A	G	14: 28,024,948 (GRCm39)	H939R	possibly damaging	Het
Fam149a	G	T	8: 45,801,583 (GRCm39)	H513N	probably benign	Het
Fam171a2	T	C	11: 102,330,543 (GRCm39)	T280A	possibly damaging	Het
Fkbp5	A	C	17: 28,634,999 (GRCm39)	V170G	probably damaging	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,608,159 (GRCm39)		probably benign	Het
Fzd2	T	C	11: 102,495,955 (GRCm39)	F133S	probably damaging	Het
Galm	A	G	17: 80,445,550 (GRCm39)	N100S	possibly damaging	Het
Gbp2b	T	A	3: 142,303,920 (GRCm39)	I5N	possibly damaging	Het
Gga2	T	C	7: 121,601,369 (GRCm39)	R245G	probably benign	Het
Gm10053	A	G	19: 24,853,264 (GRCm39)	T50A	probably benign	Het
Gm1110	T	C	9: 26,831,945 (GRCm39)	T69A	probably benign	Het
Heatr5a	T	C	12: 52,008,326 (GRCm39)	S6G	probably benign	Het
Hmcn1	A	G	1: 150,439,355 (GRCm39)	S5610P	probably damaging	Het
Hmgb4	A	G	4: 128,154,199 (GRCm39)	V123A	probably damaging	Het
Itgal	C	A	7: 126,926,936 (GRCm39)	Q943K	probably benign	Het
Jakmip1	C	A	5: 37,332,498 (GRCm39)	D1059E	probably damaging	Het
Jazf1	T	C	6: 52,870,929 (GRCm39)		probably null	Het
Kat6a	A	G	8: 23,425,788 (GRCm39)	E1111G	possibly damaging	Het
Kdm4b	C	A	17: 56,696,639 (GRCm39)	P452T	probably benign	Het
Krit1	T	C	5: 3,862,474 (GRCm39)	Y210H	probably damaging	Het
Krtap6-2	A	T	16: 89,216,800 (GRCm39)	Y56N	unknown	Het
Lig1	A	T	7: 13,022,647 (GRCm39)	D158V	probably damaging	Het
Lmo1	A	T	7: 108,739,873 (GRCm39)	L94Q	probably benign	Het
Lrrc30	A	T	17: 67,939,238 (GRCm39)	L114H	probably damaging	Het
Ltn1	T	C	16: 87,194,700 (GRCm39)	I1400V	probably benign	Het
Mark3	T	C	12: 111,570,961 (GRCm39)	I87T	probably damaging	Het
Mfrp	G	T	9: 44,016,480 (GRCm39)	V392F	possibly damaging	Het
Mrgprg	A	G	7: 143,318,872 (GRCm39)	L80P	probably damaging	Het
Ndufaf3	A	T	9: 108,444,125 (GRCm39)	M1K	probably null	Het
Nme7	T	A	1: 164,208,217 (GRCm39)	L295*	probably null	Het
Noct	G	T	3: 51,157,151 (GRCm39)	C163F	probably damaging	Het
Or11h4b	T	A	14: 50,918,281 (GRCm39)	Q270L	possibly damaging	Het
Or13a26	A	T	7: 140,284,547 (GRCm39)	I128F	probably damaging	Het
Or4b1	T	A	2: 89,979,763 (GRCm39)	I196F	possibly damaging	Het
Or5ak22	T	A	2: 85,229,955 (GRCm39)	K307N	probably damaging	Het
Or6c203	T	A	10: 129,010,324 (GRCm39)	T189S	probably damaging	Het
Or8g2	A	G	9: 39,821,200 (GRCm39)	I34V	probably benign	Het
Patz1	C	T	11: 3,248,297 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,097,185 (GRCm39)	L780P	probably benign	Het
Pira1	T	G	7: 3,738,509 (GRCm39)	E622D	probably benign	Het
Pla2g4a	T	C	1: 149,748,441 (GRCm39)	M256V	possibly damaging	Het
Pnliprp1	A	G	19: 58,729,532 (GRCm39)	K395R	probably benign	Het
Poc5	G	T	13: 96,537,340 (GRCm39)	G242V	possibly damaging	Het
Ppfia4	A	G	1: 134,251,873 (GRCm39)	S434P	possibly damaging	Het
Prss42	A	G	9: 110,627,897 (GRCm39)	N110S	probably benign	Het
Ralgapb	T	A	2: 158,274,822 (GRCm39)	I241N	possibly damaging	Het
Rbak	A	C	5: 143,159,528 (GRCm39)	Y508*	probably null	Het
S1pr2	G	T	9: 20,878,845 (GRCm39)	R328S	possibly damaging	Het
Sap130	T	C	18: 31,783,565 (GRCm39)	M214T	probably benign	Het
Slc46a1	T	A	11: 78,357,337 (GRCm39)	V130E	probably damaging	Het
Smc4	A	T	3: 68,925,457 (GRCm39)	H343L	probably benign	Het
Tarbp1	C	A	8: 127,184,416 (GRCm39)	R500L	probably benign	Het
Tasor2	A	G	13: 3,635,332 (GRCm39)	S492P	probably benign	Het
Tgfbr3	A	T	5: 107,362,894 (GRCm39)	H39Q	probably damaging	Het
Tpp2	T	C	1: 43,993,819 (GRCm39)	S235P	probably benign	Het
Trbc2	G	T	6: 41,523,763 (GRCm39)	R33M		Het
Trim3	C	T	7: 105,268,765 (GRCm39)	R63Q	probably damaging	Het
Ttc28	T	C	5: 111,433,350 (GRCm39)	V2128A	probably benign	Het
Ttn	C	T	2: 76,556,162 (GRCm39)	R30281H	probably damaging	Het
Ttn	T	A	2: 76,774,483 (GRCm39)	Q2187L	unknown	Het
Ttyh3	T	C	5: 140,615,180 (GRCm39)	S403G	possibly damaging	Het
Vmn2r112	A	T	17: 22,822,288 (GRCm39)	D322V	probably benign	Het
Wdr38	C	T	2: 38,888,352 (GRCm39)		probably benign	Het
Xrn1	T	A	9: 95,930,411 (GRCm39)	S1543R	probably benign	Het
Zbtb8b	G	A	4: 129,326,562 (GRCm39)	T201I	possibly damaging	Het

Other mutations in Adamts10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01541:Adamts10	APN	17	33,762,205 (GRCm39)	missense	probably benign	0.24
IGL01865:Adamts10	APN	17	33,772,140 (GRCm39)	missense	probably damaging	0.99
IGL02391:Adamts10	APN	17	33,747,785 (GRCm39)	missense	probably benign	0.00
IGL02711:Adamts10	APN	17	33,757,246 (GRCm39)	missense	probably damaging	0.99
R0122:Adamts10	UTSW	17	33,747,454 (GRCm39)	unclassified	probably benign
R0207:Adamts10	UTSW	17	33,764,364 (GRCm39)	missense	possibly damaging	0.64
R0481:Adamts10	UTSW	17	33,768,347 (GRCm39)	nonsense	probably null
R0508:Adamts10	UTSW	17	33,762,692 (GRCm39)	missense	probably damaging	1.00
R0558:Adamts10	UTSW	17	33,769,583 (GRCm39)	missense	probably benign	0.04
R0746:Adamts10	UTSW	17	33,768,521 (GRCm39)	nonsense	probably null
R1027:Adamts10	UTSW	17	33,762,737 (GRCm39)	missense	probably benign	0.44
R1449:Adamts10	UTSW	17	33,764,613 (GRCm39)	missense	probably damaging	0.96
R1471:Adamts10	UTSW	17	33,772,112 (GRCm39)	missense	probably damaging	1.00
R1522:Adamts10	UTSW	17	33,756,293 (GRCm39)	missense	probably benign	0.40
R1631:Adamts10	UTSW	17	33,756,316 (GRCm39)	missense	probably benign	0.25
R1863:Adamts10	UTSW	17	33,770,406 (GRCm39)	critical splice donor site	probably null
R1913:Adamts10	UTSW	17	33,768,529 (GRCm39)	missense	probably benign	0.00
R2091:Adamts10	UTSW	17	33,770,166 (GRCm39)	critical splice donor site	probably null
R2377:Adamts10	UTSW	17	33,747,866 (GRCm39)	missense	probably damaging	1.00
R3743:Adamts10	UTSW	17	33,747,686 (GRCm39)	missense	probably damaging	1.00
R4042:Adamts10	UTSW	17	33,768,514 (GRCm39)	missense	possibly damaging	0.69
R4646:Adamts10	UTSW	17	33,764,529 (GRCm39)	missense	probably damaging	1.00
R4654:Adamts10	UTSW	17	33,756,304 (GRCm39)	missense	possibly damaging	0.89
R4695:Adamts10	UTSW	17	33,750,713 (GRCm39)	missense	possibly damaging	0.95
R4721:Adamts10	UTSW	17	33,764,511 (GRCm39)	splice site	probably null
R4798:Adamts10	UTSW	17	33,747,726 (GRCm39)	missense	probably damaging	1.00
R4896:Adamts10	UTSW	17	33,747,870 (GRCm39)	missense	possibly damaging	0.90
R7494:Adamts10	UTSW	17	33,768,352 (GRCm39)	nonsense	probably null
R7541:Adamts10	UTSW	17	33,750,590 (GRCm39)	missense	probably benign	0.00
R7704:Adamts10	UTSW	17	33,770,126 (GRCm39)	missense	probably damaging	1.00
R7955:Adamts10	UTSW	17	33,764,613 (GRCm39)	missense	probably damaging	0.96
R8154:Adamts10	UTSW	17	33,756,902 (GRCm39)	missense	probably damaging	1.00
R8895:Adamts10	UTSW	17	33,768,270 (GRCm39)	missense	probably damaging	1.00
R8986:Adamts10	UTSW	17	33,762,668 (GRCm39)	missense	probably benign	0.09
R9116:Adamts10	UTSW	17	33,756,330 (GRCm39)	missense	probably benign	0.31
Z1176:Adamts10	UTSW	17	33,747,762 (GRCm39)	missense	probably damaging	1.00
Z1176:Adamts10	UTSW	17	33,747,761 (GRCm39)	missense	probably damaging	1.00
Z1177:Adamts10	UTSW	17	33,764,568 (GRCm39)	missense	probably damaging	0.99
Z1177:Adamts10	UTSW	17	33,764,403 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- GCACCTTCATAGCTAGAGTGGAC -3'
(R):5'- AACTCCATGGTCAGAGGGAAC -3'

Sequencing Primer
(F):5'- TTCATAGCTAGAGTGGACACCATC -3'
(R):5'- GGAACAGCGAAGTTTCCCTAC -3'

Posted On

2019-10-07