Mutagenetix > Incidental Mutation

Incidental Mutation 'R7524:Adam29'

582857

Institutional Source

Beutler Lab

Gene Symbol

Adam29

Ensembl Gene

ENSMUSG00000046258

Gene Name

a disintegrin and metallopeptidase domain 29

Synonyms

MMRRC Submission

045596-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56323947-56359983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56325395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 353 (C353Y)

Ref Sequence

ENSEMBL: ENSMUSP00000054292 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000053441
AA Change: C353Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: C353Y

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	T	A	19: 56,906,543 (GRCm39)	E452V	probably damaging	Het
Ak6	A	G	13: 100,800,415 (GRCm39)	D45G	probably benign	Het
Arhgap17	G	A	7: 122,905,643 (GRCm39)	P334L	probably damaging	Het
Asns	G	T	6: 7,677,259 (GRCm39)		probably null	Het
Bend7	A	G	2: 4,804,791 (GRCm39)	T424A	probably benign	Het
Btbd2	C	T	10: 80,482,278 (GRCm39)	E241K	probably damaging	Het
Commd2	A	C	3: 57,557,569 (GRCm39)	L99W	probably damaging	Het
Cpne9	A	T	6: 113,279,025 (GRCm39)	D473V	probably damaging	Het
Cuzd1	A	T	7: 130,913,347 (GRCm39)	F423L	probably damaging	Het
Cyp2d9	T	C	15: 82,340,146 (GRCm39)	F390L	probably damaging	Het
Dcaf5	T	A	12: 80,423,470 (GRCm39)	Q234L	probably benign	Het
Dennd3	T	G	15: 73,396,095 (GRCm39)	Y201*	probably null	Het
Dnah17	T	C	11: 118,012,307 (GRCm39)	D485G	probably benign	Het
Dnah5	A	T	15: 28,297,212 (GRCm39)	T1469S	possibly damaging	Het
Dnah6	T	C	6: 73,095,082 (GRCm39)	D2167G	probably damaging	Het
Dst	T	C	1: 34,330,974 (GRCm39)	V4921A	possibly damaging	Het
Ephb2	A	G	4: 136,387,020 (GRCm39)	Y736H	probably damaging	Het
Eri2	C	G	7: 119,384,972 (GRCm39)	V510L	probably benign	Het
Eya2	G	A	2: 165,611,246 (GRCm39)		probably null	Het
Fastkd5	G	T	2: 130,458,048 (GRCm39)	Q181K	probably benign	Het
Fcgbp	T	C	7: 27,802,391 (GRCm39)	S1440P	probably damaging	Het
Fkbp9	G	A	6: 56,845,725 (GRCm39)	V354M	probably damaging	Het
Frmpd1	T	A	4: 45,271,181 (GRCm39)	S304T	probably benign	Het
Gtf2a2	T	A	9: 69,922,629 (GRCm39)	Y3*	probably null	Het
Hagh	G	A	17: 25,080,314 (GRCm39)	V226I	probably benign	Het
Hemk1	T	A	9: 107,205,484 (GRCm39)	I293F	probably benign	Het
Kcna3	A	G	3: 106,944,523 (GRCm39)	E262G	probably damaging	Het
Kcnt2	A	T	1: 140,511,793 (GRCm39)	T983S	probably damaging	Het
Klhdc3	A	T	17: 46,989,340 (GRCm39)	H7Q	probably damaging	Het
Knl1	A	T	2: 118,896,460 (GRCm39)	Q94L	probably damaging	Het
Krt12	T	C	11: 99,310,485 (GRCm39)	D224G	probably damaging	Het
Lats1	T	A	10: 7,577,742 (GRCm39)	S289T	possibly damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map1a	G	A	2: 121,120,293 (GRCm39)	V60M	probably damaging	Het
Mms22l	T	A	4: 24,536,138 (GRCm39)	F536I	possibly damaging	Het
Ms4a14	T	C	19: 11,281,200 (GRCm39)	T453A	unknown	Het
Muc3a	A	C	5: 137,245,020 (GRCm39)	I151S	probably benign	Het
Myorg	C	A	4: 41,498,779 (GRCm39)	V284L	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or4c112	T	A	2: 88,854,315 (GRCm39)	I11L	probably benign	Het
Or4c125	A	G	2: 89,170,221 (GRCm39)	C142R	probably benign	Het
Or4e5	T	C	14: 52,727,750 (GRCm39)	I224V	probably damaging	Het
Or5ar1	T	A	2: 85,671,701 (GRCm39)	M145L	probably benign	Het
Or6z7	T	C	7: 6,483,586 (GRCm39)	N190D	probably benign	Het
Or7a42	T	A	10: 78,791,325 (GRCm39)	Y95*	probably null	Het
Pcdhgb4	A	T	18: 37,854,661 (GRCm39)	D352V	probably benign	Het
Pced1a	A	G	2: 130,263,948 (GRCm39)	F235L	probably benign	Het
Pclo	A	G	5: 14,728,317 (GRCm39)	I2392V	unknown	Het
Pld1	A	T	3: 28,078,470 (GRCm39)	D43V	possibly damaging	Het
Ppp1r1b	C	A	11: 98,241,720 (GRCm39)	A51D	possibly damaging	Het
Prr23a1	T	A	9: 98,724,917 (GRCm39)	L93H	probably damaging	Het
Psg20	T	C	7: 18,418,584 (GRCm39)	D61G	probably benign	Het
Rab40b	T	A	11: 121,278,878 (GRCm39)	I31F	probably damaging	Het
Rasd2	T	C	8: 75,948,709 (GRCm39)	F212L	probably benign	Het
Rbl2	A	G	8: 91,841,821 (GRCm39)	I1006V	probably benign	Het
Sema6c	A	G	3: 95,074,371 (GRCm39)	E59G	probably benign	Het
Slc22a2	G	T	17: 12,824,944 (GRCm39)	V269L	possibly damaging	Het
Slc2a1	C	T	4: 118,989,809 (GRCm39)	P149S	probably damaging	Het
Smad4	T	G	18: 73,808,942 (GRCm39)	E108D	probably damaging	Het
Sorbs2	T	A	8: 46,248,693 (GRCm39)	I648K	probably benign	Het
Suclg1	A	T	6: 73,240,824 (GRCm39)	I118F	probably damaging	Het
Tasor	T	A	14: 27,188,160 (GRCm39)	C869S	probably damaging	Het
Tet2	A	G	3: 133,185,990 (GRCm39)	I1149T	probably benign	Het
Tfr2	T	A	5: 137,569,751 (GRCm39)	Y82*	probably null	Het
Tfr2	G	T	5: 137,581,751 (GRCm39)	V613L	probably benign	Het
Tg	A	T	15: 66,568,010 (GRCm39)	M1305L	probably benign	Het
Tmem176a	A	T	6: 48,821,039 (GRCm39)	M170L	probably benign	Het
Trim71	T	C	9: 114,342,230 (GRCm39)	N684S	probably benign	Het
Tspan9	A	G	6: 127,942,214 (GRCm39)	I212T	probably benign	Het
Ttn	A	G	2: 76,773,319 (GRCm39)	V2361A	possibly damaging	Het
Uqcrc1	C	T	9: 108,765,827 (GRCm39)	T14M	possibly damaging	Het
Vmn2r11	T	C	5: 109,201,848 (GRCm39)	I219V	probably benign	Het
Vmn2r76	T	C	7: 85,874,577 (GRCm39)	H800R	probably benign	Het
Vmn2r76	C	T	7: 85,879,374 (GRCm39)	G309R	probably benign	Het
Xpc	A	T	6: 91,476,513 (GRCm39)	C529S	probably benign	Het
Zfp455	T	A	13: 67,355,688 (GRCm39)	S254T	possibly damaging	Het
Zfp746	T	C	6: 48,041,823 (GRCm39)	H301R	possibly damaging	Het
Zyg11a	A	T	4: 108,049,271 (GRCm39)	I490N	probably damaging	Het

Other mutations in Adam29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Adam29	APN	8	56,324,879 (GRCm39)	missense	probably benign	0.01
IGL01406:Adam29	APN	8	56,324,874 (GRCm39)	missense	probably damaging	1.00
IGL01511:Adam29	APN	8	56,324,456 (GRCm39)	missense	probably damaging	1.00
IGL01869:Adam29	APN	8	56,324,732 (GRCm39)	missense	probably damaging	0.99
IGL01894:Adam29	APN	8	56,324,865 (GRCm39)	missense	probably benign	0.00
IGL02023:Adam29	APN	8	56,325,519 (GRCm39)	missense	probably benign	0.12
IGL02030:Adam29	APN	8	56,325,157 (GRCm39)	missense	probably benign	0.35
IGL02071:Adam29	APN	8	56,324,589 (GRCm39)	missense	possibly damaging	0.95
IGL02094:Adam29	APN	8	56,324,480 (GRCm39)	missense	possibly damaging	0.48
IGL02108:Adam29	APN	8	56,325,346 (GRCm39)	missense	probably damaging	0.98
IGL02125:Adam29	APN	8	56,324,974 (GRCm39)	nonsense	probably null
IGL02330:Adam29	APN	8	56,325,398 (GRCm39)	missense	probably benign	0.02
IGL02332:Adam29	APN	8	56,324,775 (GRCm39)	missense	probably damaging	1.00
IGL02548:Adam29	APN	8	56,325,902 (GRCm39)	nonsense	probably null
IGL02960:Adam29	APN	8	56,325,701 (GRCm39)	nonsense	probably null
IGL03030:Adam29	APN	8	56,326,100 (GRCm39)	missense	probably damaging	1.00
ANU22:Adam29	UTSW	8	56,324,879 (GRCm39)	missense	probably benign	0.01
D4043:Adam29	UTSW	8	56,325,496 (GRCm39)	nonsense	probably null
IGL02835:Adam29	UTSW	8	56,326,173 (GRCm39)	missense	probably damaging	1.00
R0294:Adam29	UTSW	8	56,326,311 (GRCm39)	missense	probably benign	0.25
R0449:Adam29	UTSW	8	56,325,716 (GRCm39)	missense	probably benign	0.01
R0607:Adam29	UTSW	8	56,326,310 (GRCm39)	missense	probably damaging	1.00
R0626:Adam29	UTSW	8	56,324,612 (GRCm39)	missense	probably benign	0.24
R1296:Adam29	UTSW	8	56,324,754 (GRCm39)	nonsense	probably null
R1752:Adam29	UTSW	8	56,325,309 (GRCm39)	missense	probably damaging	0.98
R1930:Adam29	UTSW	8	56,326,124 (GRCm39)	missense	probably damaging	1.00
R1931:Adam29	UTSW	8	56,326,124 (GRCm39)	missense	probably damaging	1.00
R2397:Adam29	UTSW	8	56,325,933 (GRCm39)	missense	probably benign	0.04
R2764:Adam29	UTSW	8	56,324,791 (GRCm39)	missense	probably damaging	1.00
R4052:Adam29	UTSW	8	56,325,317 (GRCm39)	missense	probably damaging	1.00
R4978:Adam29	UTSW	8	56,324,436 (GRCm39)	missense	probably damaging	0.98
R5306:Adam29	UTSW	8	56,324,792 (GRCm39)	missense	probably damaging	1.00
R6383:Adam29	UTSW	8	56,324,543 (GRCm39)	missense	probably damaging	0.99
R6528:Adam29	UTSW	8	56,325,596 (GRCm39)	missense	possibly damaging	0.93
R6579:Adam29	UTSW	8	56,325,779 (GRCm39)	missense	probably damaging	1.00
R6707:Adam29	UTSW	8	56,325,135 (GRCm39)	missense	probably damaging	1.00
R7076:Adam29	UTSW	8	56,324,694 (GRCm39)	missense	probably damaging	1.00
R7099:Adam29	UTSW	8	56,324,439 (GRCm39)	missense	probably benign	0.01
R7177:Adam29	UTSW	8	56,325,659 (GRCm39)	missense	probably benign	0.30
R7320:Adam29	UTSW	8	56,325,749 (GRCm39)	missense	possibly damaging	0.50
R7420:Adam29	UTSW	8	56,325,933 (GRCm39)	missense	probably benign	0.04
R7438:Adam29	UTSW	8	56,324,609 (GRCm39)	missense	probably damaging	0.99
R7476:Adam29	UTSW	8	56,326,230 (GRCm39)	missense	probably damaging	0.97
R8066:Adam29	UTSW	8	56,325,703 (GRCm39)	missense	probably benign	0.11
R8111:Adam29	UTSW	8	56,324,585 (GRCm39)	missense	probably benign	0.00
R8221:Adam29	UTSW	8	56,325,463 (GRCm39)	missense	probably benign	0.02
R8350:Adam29	UTSW	8	56,325,224 (GRCm39)	missense	possibly damaging	0.89
R8353:Adam29	UTSW	8	56,326,196 (GRCm39)	missense	possibly damaging	0.82
R8453:Adam29	UTSW	8	56,326,196 (GRCm39)	missense	possibly damaging	0.82
R8723:Adam29	UTSW	8	56,324,513 (GRCm39)	missense	probably damaging	1.00
R8752:Adam29	UTSW	8	56,325,328 (GRCm39)	nonsense	probably null
R8809:Adam29	UTSW	8	56,325,659 (GRCm39)	missense	probably benign	0.30
R9025:Adam29	UTSW	8	56,325,196 (GRCm39)	nonsense	probably null
R9388:Adam29	UTSW	8	56,325,285 (GRCm39)	missense	probably damaging	1.00
R9612:Adam29	UTSW	8	56,325,118 (GRCm39)	missense	possibly damaging	0.77
X0011:Adam29	UTSW	8	56,326,203 (GRCm39)	missense	probably benign	0.02
Z1177:Adam29	UTSW	8	56,324,531 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTCCACAGCGTGTCCTG -3'
(R):5'- ATATTGCCGGTGGAAAGCC -3'

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

Posted On

2019-10-17