Mutagenetix > Incidental Mutation

Incidental Mutation 'R8221:Adam29'

636691

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: 0.060) question?

Stock #

R8221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55870912-55906948 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55872428 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 330 (N330K)

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: N330K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: N330K

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: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (74/74)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,519,750	F134S	probably damaging	Het
Acsl5	T	C	19: 55,268,830		probably null	Het
Adgrv1	A	G	13: 81,528,914	S1933P	probably benign	Het
Afap1l2	T	C	19: 56,914,392	H785R	probably damaging	Het
Ahnak	T	A	19: 9,010,436	L3028*	probably null	Het
Ajuba	T	C	14: 54,570,390	T462A	possibly damaging	Het
Ankrd36	A	G	11: 5,584,016	N289S	possibly damaging	Het
Ankrd46	A	T	15: 36,485,855	L84Q	probably damaging	Het
Ankrd54	T	G	15: 79,056,070	D163A	probably damaging	Het
Arhgef28	A	G	13: 98,145,556	L10P	probably benign	Het
Atm	A	T	9: 53,455,988		probably null	Het
Azin1	G	C	15: 38,492,328	F312L	probably damaging	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
C2cd4c	A	G	10: 79,612,648	S222P	probably damaging	Het
Cdyl	A	G	13: 35,816,164	T143A	probably benign	Het
Clhc1	G	A	11: 29,553,751	V56I	possibly damaging	Het
Cntn4	T	C	6: 106,509,510	S300P	probably benign	Het
Col12a1	A	G	9: 79,643,942	Y2131H	probably damaging	Het
Cyp3a41b	A	G	5: 145,569,380	S287P	probably benign	Het
Dctn4	A	G	18: 60,556,329	D424G	probably benign	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
Dopey2	A	G	16: 93,749,959	T284A	probably benign	Het
E330034G19Rik	A	C	14: 24,296,067		probably null	Het
Ehhadh	G	A	16: 21,762,623	P540S	possibly damaging	Het
Emsy	T	C	7: 98,647,904	E24G	probably damaging	Het
F930015N05Rik	A	C	11: 64,435,592	L74W	unknown	Het
Fat1	A	G	8: 44,953,353	D1047G		Het
Galnt7	A	G	8: 57,552,566	V211A	possibly damaging	Het
Gdap2	T	C	3: 100,202,295	C543R	unknown	Het
Ghr	A	C	15: 3,333,419	D190E	probably benign	Het
Glrx	A	G	13: 75,847,227	M89V	probably benign	Het
Gm10323	A	C	13: 66,852,795	Y91*	noncoding transcript	Het
Gnb4	A	T	3: 32,590,035	D153E	possibly damaging	Het
Gnptab	G	T	10: 88,440,392		probably null	Het
Grip2	T	C	6: 91,785,684	D193G	possibly damaging	Het
Igsf3	T	C	3: 101,439,722	W658R	probably damaging	Het
Ip6k1	T	A	9: 108,045,916	F416I	probably benign	Het
Klhl1	T	G	14: 96,280,110	T377P	possibly damaging	Het
Lrrc38	G	A	4: 143,350,733	G189R	probably damaging	Het
Lrrfip1	T	C	1: 91,115,156	S428P	probably benign	Het
Megf10	A	G	18: 57,283,821	D754G	probably benign	Het
Mrgprx2	T	A	7: 48,482,779	Y97F	probably benign	Het
Msantd2	T	G	9: 37,489,388	V22G	probably damaging	Het
Myl6b	T	C	10: 128,497,340	K11R	unknown	Het
Nab2	C	A	10: 127,662,776	V475L	probably benign	Het
Npas1	T	C	7: 16,455,965	E552G	probably damaging	Het
Pknox2	T	C	9: 36,909,744	N274S	possibly damaging	Het
Pmepa1	A	T	2: 173,227,907	L247Q	probably damaging	Het
Poll	T	C	19: 45,553,608	K420E	probably damaging	Het
Polr2a	A	G	11: 69,737,518	V1283A	probably benign	Het
Ppil4	A	T	10: 7,795,680	Y36F	probably benign	Het
Psd2	C	T	18: 35,980,425	R317W	probably damaging	Het
Pspc1	T	A	14: 56,778,159	M1L	probably benign	Het
Qrsl1	A	T	10: 43,882,084	F338I	possibly damaging	Het
Rcor3	A	G	1: 192,130,449	Y77H	unknown	Het
Sbno2	G	A	10: 80,070,011	P157L	probably benign	Het
Scn10a	C	T	9: 119,617,763	V1400I	probably damaging	Het
Setd3	C	G	12: 108,107,353	G555A	possibly damaging	Het
Slc12a4	A	T	8: 105,951,969	M245K	probably benign	Het
Slc1a5	T	A	7: 16,781,977	L26Q	probably benign	Het
Slc38a3	T	G	9: 107,657,709	M156L	probably damaging	Het
Slc45a2	A	T	15: 11,001,147	I111F	probably benign	Het
Slc4a3	T	A	1: 75,552,166	M491K	probably benign	Het
Son	A	G	16: 91,656,846	D827G	probably damaging	Het
Sppl2c	A	T	11: 104,186,884	H170L	probably damaging	Het
St6gal2	T	A	17: 55,490,934		probably null	Het
Taf4b	T	A	18: 14,898,049	L830H	probably damaging	Het
Tex22	A	G	12: 113,075,076		probably null	Het
Tiam2	C	T	17: 3,518,585	R1669C	probably damaging	Het
Tmprss15	T	A	16: 79,024,335	N506I	probably damaging	Het
Topors	A	T	4: 40,260,686	I866K	unknown	Het
Trip12	G	T	1: 84,766,050	T512K	possibly damaging	Het
Ubr1	T	A	2: 120,961,104	H133L	probably damaging	Het
Wwtr1	T	C	3: 57,459,020	D422G	probably damaging	Het
Zfp689	A	C	7: 127,444,586	C291G	probably damaging	Het
Zfyve9	A	G	4: 108,719,680	L68P	possibly damaging	Het
Zswim5	G	T	4: 116,878,022	R188L	probably benign	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
R7177:Adam29	UTSW	8	55872624	missense	probably benign	0.30
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
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'- CAGCGTGTCCTGTCAAAGATATC -3'
(R):5'- GACTATATTGCCGGTGGAAAGC -3'

Sequencing Primer
(F):5'- GTGTACATGTTTTCCATCAAACACC -3'
(R):5'- GAAAGCCTCAAACTTTCTTCATCG -3'

Posted On

2020-07-13