Mutagenetix > Incidental Mutation

Incidental Mutation 'R7177:Adam29'

558692

Institutional Source

Beutler Lab

Gene Symbol

Adam29

Ensembl Gene

ENSMUSG00000046258

Gene Name

a disintegrin and metallopeptidase domain 29

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_175939; MGI: 2676326

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55870912-55906948 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55872624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 265 (I265T)

Ref Sequence

ENSEMBL: ENSMUSP00000054292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053441]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053441
AA Change: I265T

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: I265T

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	159	1.9e-17	PFAM
Pfam:Reprolysin_4	203	394	3.3e-10	PFAM
Pfam:Reprolysin_5	203	403	6.9e-15	PFAM
Pfam:Reprolysin	205	395	1.5e-48	PFAM
Pfam:Reprolysin_2	226	386	7.4e-11	PFAM
Pfam:Reprolysin_3	228	349	1.4e-11	PFAM
DISIN	412	487	4.26e-37	SMART
ACR	488	624	2.85e-58	SMART
low complexity region	642	651	N/A	INTRINSIC
transmembrane domain	683	705	N/A	INTRINSIC
low complexity region	713	746	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. [provided by RefSeq, May 2016]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	T	A	8: 45,970,407	E89D	possibly damaging	Het
4930550C14Rik	T	C	9: 53,414,385	L74S	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,425	S312P	probably benign	Het
5730409E04Rik	A	G	4: 126,611,732	S18G	probably benign	Het
Aff4	C	T	11: 53,406,639	S896L	probably benign	Het
Ankrd27	T	C	7: 35,619,397	I571T	probably damaging	Het
Bdp1	C	A	13: 100,049,970	R1658I	probably damaging	Het
Carm1	C	T	9: 21,547,027	T7M	unknown	Het
Ccdc105	T	C	10: 78,752,490	D162G	probably damaging	Het
Ccdc183	A	G	2: 25,616,284	V100A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Ceacam2	T	G	7: 25,520,916	D239A	probably benign	Het
Cmya5	T	C	13: 93,095,328	D1084G	probably benign	Het
Cog5	T	A	12: 31,760,889	I194K	probably damaging	Het
Col20a1	C	T	2: 180,994,214	Q211*	probably null	Het
Col9a1	T	A	1: 24,195,417	L13Q	unknown	Het
Cracr2a	A	T	6: 127,608,706	M156L	probably benign	Het
Cts8	C	T	13: 61,251,691	M151I	possibly damaging	Het
Cyp2ab1	A	T	16: 20,316,719	L11Q	probably null	Het
Dhrs13	T	A	11: 78,034,382	C160S	probably benign	Het
Enthd1	T	A	15: 80,474,214	E368D	probably damaging	Het
Fbxo18	A	G	2: 11,755,711	I676T	probably damaging	Het
Fcgrt	T	C	7: 45,101,997	R176G	probably benign	Het
Gatd1	A	G	7: 141,411,034	F67L	possibly damaging	Het
Gm4353	G	A	7: 116,084,492	P23S	probably damaging	Het
Gm6882	T	A	7: 21,427,752	I64F	possibly damaging	Het
Grwd1	A	T	7: 45,830,780	M1K	probably null	Het
Hook2	T	A	8: 84,991,417	S58T	probably benign	Het
Iqch	T	G	9: 63,421,835	*1072C	probably null	Het
Kmt2d	G	A	15: 98,850,386	T3019I	unknown	Het
Lmx1a	T	C	1: 167,846,678	S356P	probably benign	Het
Lrig3	A	G	10: 126,006,843	M546V	probably benign	Het
Lrrc1	C	A	9: 77,472,222	E96*	probably null	Het
Lrtm2	C	A	6: 119,317,152	M339I	probably damaging	Het
Map10	T	C	8: 125,671,845	V659A	probably benign	Het
Map7d1	A	G	4: 126,236,985	C384R	probably damaging	Het
Mcur1	T	C	13: 43,544,536	D296G	probably damaging	Het
Mettl24	A	T	10: 40,810,512	H295L	probably damaging	Het
Mpl	A	G	4: 118,448,544		probably null	Het
Mrps5	T	C	2: 127,595,697	V148A	probably benign	Het
N4bp2	T	C	5: 65,807,548	V980A	probably damaging	Het
Ncaph	A	T	2: 127,116,586	D504E	probably damaging	Het
Nxph1	A	G	6: 9,247,497	N156S	probably damaging	Het
Odf3l1	T	A	9: 56,849,978	M139L	possibly damaging	Het
Olfr1307	T	A	2: 111,945,156	Q100L	probably damaging	Het
Olfr1395	T	A	11: 49,149,185	C309*	probably null	Het
Pafah1b3	T	A	7: 25,295,232	I186L	probably benign	Het
Papola	C	A	12: 105,809,531	N235K	possibly damaging	Het
Pcnx3	A	T	19: 5,687,499	M98K	probably benign	Het
Pkhd1l1	A	G	15: 44,467,404	N125S	probably damaging	Het
Pls1	T	A	9: 95,773,559	H380L	probably benign	Het
Plxna1	T	C	6: 89,323,329	T1591A	possibly damaging	Het
Pparg	T	G	6: 115,441,620	S147A	probably benign	Het
Prdm10	T	C	9: 31,367,707	S1025P	probably benign	Het
Prkcd	T	A	14: 30,599,707	H510L	probably damaging	Het
Ptprh	T	A	7: 4,569,481	E499D	possibly damaging	Het
Rad51ap1	A	G	6: 126,925,020	S256P	probably benign	Het
Rad54b	A	G	4: 11,599,755	T320A	probably damaging	Het
Rnf207	A	G	4: 152,312,177	I459T	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Ryr3	A	T	2: 112,900,843	D727E	probably damaging	Het
Sdk2	C	T	11: 113,829,969	R1378H	possibly damaging	Het
Slc7a11	A	G	3: 50,443,231	S11P	probably benign	Het
Sox4	A	G	13: 28,953,017	V2A	probably damaging	Het
Srf	A	G	17: 46,555,392	F146S	probably damaging	Het
Srrm2	T	C	17: 23,816,773	V797A	unknown	Het
Stk32c	T	C	7: 139,104,302	D463G	possibly damaging	Het
Syne2	C	A	12: 75,971,880	Y3384*	probably null	Het
Tmem55b	A	C	14: 50,930,177	M104R	possibly damaging	Het
Traip	T	A	9: 107,960,985	M139K	possibly damaging	Het
Trappc2l	T	A	8: 122,614,312	F100Y	probably damaging	Het
Ush1c	T	C	7: 46,229,219	D124G	probably damaging	Het
Uty	A	G	Y: 1,099,691	V1168A	probably benign	Het
Vmn2r25	T	C	6: 123,839,923	D233G	possibly damaging	Het
Zdbf2	C	T	1: 63,294,961	R31C	possibly damaging	Het

Other mutations in Adam29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Adam29	APN	8	55871844	missense	probably benign	0.01
IGL01406:Adam29	APN	8	55871839	missense	probably damaging	1.00
IGL01511:Adam29	APN	8	55871421	missense	probably damaging	1.00
IGL01869:Adam29	APN	8	55871697	missense	probably damaging	0.99
IGL01894:Adam29	APN	8	55871830	missense	probably benign	0.00
IGL02023:Adam29	APN	8	55872484	missense	probably benign	0.12
IGL02030:Adam29	APN	8	55872122	missense	probably benign	0.35
IGL02071:Adam29	APN	8	55871554	missense	possibly damaging	0.95
IGL02094:Adam29	APN	8	55871445	missense	possibly damaging	0.48
IGL02108:Adam29	APN	8	55872311	missense	probably damaging	0.98
IGL02125:Adam29	APN	8	55871939	nonsense	probably null
IGL02330:Adam29	APN	8	55872363	missense	probably benign	0.02
IGL02332:Adam29	APN	8	55871740	missense	probably damaging	1.00
IGL02548:Adam29	APN	8	55872867	nonsense	probably null
IGL02960:Adam29	APN	8	55872666	nonsense	probably null
IGL03030:Adam29	APN	8	55873065	missense	probably damaging	1.00
ANU22:Adam29	UTSW	8	55871844	missense	probably benign	0.01
D4043:Adam29	UTSW	8	55872461	nonsense	probably null
IGL02835:Adam29	UTSW	8	55873138	missense	probably damaging	1.00
R0294:Adam29	UTSW	8	55873276	missense	probably benign	0.25
R0449:Adam29	UTSW	8	55872681	missense	probably benign	0.01
R0607:Adam29	UTSW	8	55873275	missense	probably damaging	1.00
R0626:Adam29	UTSW	8	55871577	missense	probably benign	0.24
R1296:Adam29	UTSW	8	55871719	nonsense	probably null
R1752:Adam29	UTSW	8	55872274	missense	probably damaging	0.98
R1930:Adam29	UTSW	8	55873089	missense	probably damaging	1.00
R1931:Adam29	UTSW	8	55873089	missense	probably damaging	1.00
R2397:Adam29	UTSW	8	55872898	missense	probably benign	0.04
R2764:Adam29	UTSW	8	55871756	missense	probably damaging	1.00
R4052:Adam29	UTSW	8	55872282	missense	probably damaging	1.00
R4978:Adam29	UTSW	8	55871401	missense	probably damaging	0.98
R5306:Adam29	UTSW	8	55871757	missense	probably damaging	1.00
R6383:Adam29	UTSW	8	55871508	missense	probably damaging	0.99
R6528:Adam29	UTSW	8	55872561	missense	possibly damaging	0.93
R6579:Adam29	UTSW	8	55872744	missense	probably damaging	1.00
R6707:Adam29	UTSW	8	55872100	missense	probably damaging	1.00
R7076:Adam29	UTSW	8	55871659	missense	probably damaging	1.00
R7099:Adam29	UTSW	8	55871404	missense	probably benign	0.01
R7320:Adam29	UTSW	8	55872714	missense	possibly damaging	0.50
R7420:Adam29	UTSW	8	55872898	missense	probably benign	0.04
R7438:Adam29	UTSW	8	55871574	missense	probably damaging	0.99
R7476:Adam29	UTSW	8	55873195	missense	probably damaging	0.97
R7524:Adam29	UTSW	8	55872360	missense	probably damaging	1.00
R8066:Adam29	UTSW	8	55872668	missense	probably benign	0.11
R8111:Adam29	UTSW	8	55871550	missense	probably benign	0.00
R8221:Adam29	UTSW	8	55872428	missense	probably benign	0.02
R8350:Adam29	UTSW	8	55872189	missense	possibly damaging	0.89
R8353:Adam29	UTSW	8	55873161	missense	possibly damaging	0.82
R8453:Adam29	UTSW	8	55873161	missense	possibly damaging	0.82
R8723:Adam29	UTSW	8	55871478	missense	probably damaging	1.00
R8752:Adam29	UTSW	8	55872293	nonsense	probably null
R8809:Adam29	UTSW	8	55872624	missense	probably benign	0.30
R9025:Adam29	UTSW	8	55872161	nonsense	probably null
R9388:Adam29	UTSW	8	55872250	missense	probably damaging	1.00
R9612:Adam29	UTSW	8	55872083	missense	possibly damaging	0.77
X0011:Adam29	UTSW	8	55873168	missense	probably benign	0.02
Z1177:Adam29	UTSW	8	55871496	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCACGAAGGTTCAAAGTTC -3'
(R):5'- TGGTGGACCCATACTAAAATTGTTG -3'

Sequencing Primer
(F):5'- CACGAAGGTTCAAAGTTCTGTCTATG -3'
(R):5'- GAATTAGTAGTGGTGGTGGATAAGAC -3'

Posted On

2019-06-26