Mutagenetix > Incidental Mutation

Incidental Mutation 'R6415:Adam9'

517866

Institutional Source

Beutler Lab

Gene Symbol

Adam9

Ensembl Gene

ENSMUSG00000031555

Gene Name

ADAM metallopeptidase domain 9

Synonyms

MDC9, Mltng, Mltng, MDC9

MMRRC Submission

044557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6415 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25439627-25506943 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25468498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 513 (Y513H)

Ref Sequence

ENSEMBL: ENSMUSP00000146545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084032] [ENSMUST00000084035] [ENSMUST00000207132] [ENSMUST00000208247]

AlphaFold

Q61072

Predicted Effect

probably damaging
Transcript: ENSMUST00000084032
AA Change: Y513H

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

SMART Domains

Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
AA Change: Y513H

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Pep_M12B_propep	43	163	8.5e-36	PFAM
Pfam:Reprolysin_5	210	386	5.5e-20	PFAM
Pfam:Reprolysin_4	210	402	1.4e-11	PFAM
Pfam:Reprolysin	212	406	1e-67	PFAM
Pfam:Reprolysin_2	232	396	1.1e-12	PFAM
Pfam:Reprolysin_3	236	358	8.1e-19	PFAM
DISIN	423	499	8.7e-44	SMART
ACR	500	637	9.7e-75	SMART
EGF	643	674	9.9e-2	SMART
transmembrane domain	699	718	N/A	INTRINSIC
low complexity region	753	787	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000084035
AA Change: Y513H

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

SMART Domains

Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
AA Change: Y513H

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Pep_M12B_propep	34	163	8.1e-31	PFAM
Pfam:Reprolysin_5	210	386	5.8e-22	PFAM
Pfam:Reprolysin_4	210	402	1.6e-13	PFAM
Pfam:Reprolysin	212	406	1.9e-73	PFAM
Pfam:Reprolysin_2	232	396	9.4e-15	PFAM
Pfam:Reprolysin_3	236	358	3.4e-19	PFAM
DISIN	423	499	1.71e-41	SMART
ACR	500	637	2.86e-72	SMART
EGF	643	674	2.03e1	SMART
transmembrane domain	699	718	N/A	INTRINSIC
low complexity region	753	794	N/A	INTRINSIC
low complexity region	808	826	N/A	INTRINSIC
low complexity region	831	839	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207132

Predicted Effect

probably damaging
Transcript: ENSMUST00000208247
AA Change: Y513H

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous knockout mice exhibit progressive retinal degeneration, disorganized retinal layers and a degenerate retinal pigment epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,881,296 (GRCm39)	T482M	probably benign	Het
Adamts20	C	T	15: 94,222,540 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,588,759 (GRCm39)	D326G	probably damaging	Het
Cacna1g	A	G	11: 94,354,243 (GRCm39)	I224T	probably damaging	Het
Ccdc18	A	G	5: 108,309,612 (GRCm39)	I402M	probably benign	Het
Cckar	A	T	5: 53,860,398 (GRCm39)	C73S	probably damaging	Het
Cdk13	C	T	13: 17,913,739 (GRCm39)	R880H	probably damaging	Het
Col1a1	A	G	11: 94,830,986 (GRCm39)	N218D	unknown	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp2c69	A	G	19: 39,831,365 (GRCm39)	F483L	probably benign	Het
Ddx60	A	G	8: 62,436,939 (GRCm39)	D963G	probably benign	Het
Dhx8	G	T	11: 101,628,513 (GRCm39)	A142S	unknown	Het
Dock7	C	T	4: 98,880,685 (GRCm39)	R926Q	probably damaging	Het
Dscaml1	C	T	9: 45,594,975 (GRCm39)	Q693*	probably null	Het
Dysf	G	A	6: 84,117,024 (GRCm39)	C1234Y	probably damaging	Het
Ercc1	G	A	7: 19,089,102 (GRCm39)		probably null	Het
Fam91a1	T	C	15: 58,314,766 (GRCm39)	L549P	probably damaging	Het
Fxyd2	T	A	9: 45,314,592 (GRCm39)	Y5N	possibly damaging	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Gpr182	T	A	10: 127,586,375 (GRCm39)	D192V	possibly damaging	Het
Gps1	T	C	11: 120,678,548 (GRCm39)	V286A	possibly damaging	Het
Grk1	A	G	8: 13,463,127 (GRCm39)	Y383C	probably damaging	Het
H2bc15	T	C	13: 21,938,656 (GRCm39)	Y122H	probably benign	Het
Hic1	G	A	11: 75,057,143 (GRCm39)	P582L	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Khdc4	T	C	3: 88,607,279 (GRCm39)	F328L	probably benign	Het
Lactb	T	C	9: 66,877,927 (GRCm39)	K301E	possibly damaging	Het
Lrp3	A	T	7: 34,903,593 (GRCm39)	V251E	probably benign	Het
Mapt	G	A	11: 104,189,824 (GRCm39)	G265S	probably benign	Het
Obscn	A	T	11: 58,925,956 (GRCm39)	D6245E	probably damaging	Het
Or10al2	G	T	17: 37,983,448 (GRCm39)	C178F	possibly damaging	Het
Or1j12	A	G	2: 36,342,617 (GRCm39)	S7G	probably damaging	Het
Or4b1c	T	A	2: 90,126,381 (GRCm39)	I275F	probably damaging	Het
Or4c10b	T	C	2: 89,711,206 (GRCm39)	L12P	probably damaging	Het
Or6c207	T	C	10: 129,104,890 (GRCm39)	T101A	probably benign	Het
Or7e165	T	A	9: 19,695,044 (GRCm39)	I205N	probably damaging	Het
Or7g19	T	C	9: 18,856,415 (GRCm39)	L157P	probably damaging	Het
Oxsm	A	T	14: 16,241,904 (GRCm38)	H288Q	probably benign	Het
Pcdh9	C	T	14: 93,253,278 (GRCm39)	M1128I	possibly damaging	Het
Pcdha8	T	C	18: 37,127,614 (GRCm39)	Y699H	probably damaging	Het
Pgk2	A	T	17: 40,518,459 (GRCm39)	I323N	probably benign	Het
Plin4	A	G	17: 56,410,264 (GRCm39)	V1216A	probably damaging	Het
Ppargc1a	T	C	5: 51,620,176 (GRCm39)		probably benign	Het
Prelp	A	T	1: 133,840,516 (GRCm39)	I322N	probably benign	Het
Prelp	A	T	1: 133,842,395 (GRCm39)	I250N	probably damaging	Het
Prss27	T	A	17: 24,261,882 (GRCm39)	C63*	probably null	Het
Rab38	G	A	7: 88,079,748 (GRCm39)	A47T	possibly damaging	Het
Rprd2	G	A	3: 95,681,531 (GRCm39)	A436V	probably benign	Het
Sacs	A	T	14: 61,442,808 (GRCm39)	N1618I	probably damaging	Het
Scp2	T	G	4: 107,962,337 (GRCm39)	S63R	probably benign	Het
Sftpb	T	G	6: 72,281,633 (GRCm39)	W9G	probably damaging	Het
Slco1a4	A	T	6: 141,780,415 (GRCm39)	L125*	probably null	Het
Sptlc1	T	C	13: 53,505,728 (GRCm39)		probably null	Het
Sub1	T	A	15: 11,986,560 (GRCm39)	M96L	probably benign	Het
Tanc1	T	C	2: 59,667,458 (GRCm39)	V1233A	probably benign	Het
Tmem140	A	T	6: 34,849,658 (GRCm39)	D58V	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,083,811 (GRCm39)	Y91H	probably benign	Het
Trap1	C	T	16: 3,861,856 (GRCm39)	R636H	possibly damaging	Het
Ttc14	A	G	3: 33,857,724 (GRCm39)	H275R	possibly damaging	Het
Tut7	T	A	13: 59,964,110 (GRCm39)		probably null	Het
Vps35l	T	C	7: 118,391,869 (GRCm39)	W494R	probably damaging	Het
Ypel1	A	G	16: 16,921,438 (GRCm39)		probably null	Het
Zbtb44	T	A	9: 30,975,510 (GRCm39)	I380N	possibly damaging	Het
Zswim5	T	C	4: 116,838,063 (GRCm39)	F798L	possibly damaging	Het

Other mutations in Adam9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01611:Adam9	APN	8	25,457,212 (GRCm39)	missense	probably benign	0.03
IGL01786:Adam9	APN	8	25,486,855 (GRCm39)	missense	probably damaging	1.00
IGL02095:Adam9	APN	8	25,486,745 (GRCm39)	missense	probably benign	0.00
IGL02322:Adam9	APN	8	25,445,990 (GRCm39)	missense	probably damaging	1.00
IGL02555:Adam9	APN	8	25,456,752 (GRCm39)	missense	probably damaging	1.00
IGL02869:Adam9	APN	8	25,460,634 (GRCm39)	missense	probably damaging	1.00
R0126:Adam9	UTSW	8	25,460,753 (GRCm39)	missense	probably damaging	1.00
R0448:Adam9	UTSW	8	25,454,926 (GRCm39)	missense	probably damaging	1.00
R0552:Adam9	UTSW	8	25,453,026 (GRCm39)	missense	probably benign	0.00
R0730:Adam9	UTSW	8	25,486,774 (GRCm39)	missense	probably benign	0.02
R1455:Adam9	UTSW	8	25,483,125 (GRCm39)	missense	probably benign	0.00
R1974:Adam9	UTSW	8	25,482,240 (GRCm39)	missense	probably damaging	1.00
R2043:Adam9	UTSW	8	25,486,669 (GRCm39)	critical splice donor site	probably null
R2054:Adam9	UTSW	8	25,481,310 (GRCm39)	missense	probably damaging	1.00
R2091:Adam9	UTSW	8	25,485,200 (GRCm39)	splice site	probably benign
R2111:Adam9	UTSW	8	25,472,142 (GRCm39)	splice site	probably benign
R4261:Adam9	UTSW	8	25,454,923 (GRCm39)	nonsense	probably null
R4852:Adam9	UTSW	8	25,493,317 (GRCm39)	missense	probably damaging	1.00
R5165:Adam9	UTSW	8	25,457,190 (GRCm39)	missense	possibly damaging	0.88
R6022:Adam9	UTSW	8	25,493,321 (GRCm39)	missense	possibly damaging	0.87
R6101:Adam9	UTSW	8	25,460,775 (GRCm39)	missense	probably damaging	1.00
R6105:Adam9	UTSW	8	25,460,775 (GRCm39)	missense	probably damaging	1.00
R7241:Adam9	UTSW	8	25,441,002 (GRCm39)	missense	possibly damaging	0.53
R7442:Adam9	UTSW	8	25,457,223 (GRCm39)	missense	probably damaging	0.99
R7552:Adam9	UTSW	8	25,445,988 (GRCm39)	missense	unknown
R8076:Adam9	UTSW	8	25,452,938 (GRCm39)	nonsense	probably null
R8265:Adam9	UTSW	8	25,457,202 (GRCm39)	missense	probably damaging	1.00
R8762:Adam9	UTSW	8	25,457,235 (GRCm39)	missense	probably damaging	0.99
R9157:Adam9	UTSW	8	25,493,331 (GRCm39)	missense	probably damaging	0.98
R9164:Adam9	UTSW	8	25,486,795 (GRCm39)	missense	possibly damaging	0.79
R9424:Adam9	UTSW	8	25,445,953 (GRCm39)	missense	probably benign	0.06
R9576:Adam9	UTSW	8	25,445,953 (GRCm39)	missense	probably benign	0.06
R9674:Adam9	UTSW	8	25,441,014 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CCTGACCATGACTACTACAGAAGG -3'
(R):5'- GAGATTCCTGTCTGATTTGAACC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GTCTGATTTGAACCTCATTACCTTAG -3'

Posted On

2018-05-24