Mutagenetix > Incidental Mutation

Incidental Mutation 'R9157:Adam9'

695443

Institutional Source

Beutler Lab

Gene Symbol

Adam9

Ensembl Gene

ENSMUSG00000031555

Gene Name

ADAM metallopeptidase domain 9

Synonyms

MDC9, Mltng, Mltng, MDC9

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25439627-25506943 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25493331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 92 (F92L)

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: F92L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
AA Change: F92L

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

possibly damaging
Transcript: ENSMUST00000084035
AA Change: F92L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
AA Change: F92L

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: F92L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

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

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,220 (GRCm39)	T324A	probably benign	Het
Adgrb1	A	G	15: 74,411,624 (GRCm39)	T376A	probably damaging	Het
Aff3	A	C	1: 38,249,559 (GRCm39)	I516S	probably benign	Het
Bdp1	C	T	13: 100,186,436 (GRCm39)	S1672N	probably benign	Het
Btc	A	T	5: 91,513,980 (GRCm39)	I94N	probably damaging	Het
Ccdc168	A	G	1: 44,096,520 (GRCm39)	V1526A	probably benign	Het
Ccdc47	A	T	11: 106,093,208 (GRCm39)		probably null	Het
Ceacam5	A	T	7: 17,493,419 (GRCm39)	Y814F	possibly damaging	Het
Celsr3	A	T	9: 108,707,185 (GRCm39)	R1223W	probably damaging	Het
Cenpc1	A	G	5: 86,166,316 (GRCm39)	M779T	probably benign	Het
Cfap20dc	T	A	14: 8,518,635 (GRCm38)	T274S	probably benign	Het
Depdc5	T	C	5: 33,102,452 (GRCm39)	I986T	probably damaging	Het
Dhx40	A	T	11: 86,662,050 (GRCm39)	I669N	probably damaging	Het
Dnah1	T	A	14: 30,987,970 (GRCm39)	I3483F	probably damaging	Het
Dzip3	C	T	16: 48,748,124 (GRCm39)	G918D	probably benign	Het
Fam185a	T	G	5: 21,660,837 (GRCm39)	V284G	probably damaging	Het
Fhod3	T	C	18: 25,218,651 (GRCm39)	S805P	probably damaging	Het
Filip1l	A	G	16: 57,391,980 (GRCm39)	N856S	probably benign	Het
Gm12887	C	T	4: 121,473,701 (GRCm39)	V50M	probably benign	Het
Gm45785	T	C	7: 140,398,616 (GRCm39)	I94V	unknown	Het
Gm9195	A	G	14: 72,692,038 (GRCm39)	I1616T	unknown	Het
Grm4	T	A	17: 27,653,956 (GRCm39)	I665F	probably benign	Het
Hcls1	C	T	16: 36,777,000 (GRCm39)	A230V	probably benign	Het
Hic1	A	G	11: 75,057,053 (GRCm39)	L612P	possibly damaging	Het
Hmcn1	A	C	1: 150,522,343 (GRCm39)	V3519G	probably benign	Het
Hmgcs1	A	G	13: 120,165,963 (GRCm39)	Y360C	probably benign	Het
Hspa12a	A	T	19: 58,789,292 (GRCm39)	M448K	possibly damaging	Het
Htt	T	G	5: 34,987,171 (GRCm39)	I1130S	probably null	Het
Irx3	A	G	8: 92,527,694 (GRCm39)	Y59H	probably damaging	Het
Klc4	A	G	17: 46,950,361 (GRCm39)	L280P	probably damaging	Het
Lrp1	G	T	10: 127,410,209 (GRCm39)	N1512K	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Marco	T	C	1: 120,421,814 (GRCm39)	E130G	probably damaging	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Ms4a18	A	T	19: 10,988,804 (GRCm39)	L184Q	probably damaging	Het
Msi2	A	C	11: 88,608,889 (GRCm39)	S10A	probably benign	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Ngfr	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 95,478,316 (GRCm39)		probably benign	Het
Nradd	A	G	9: 110,451,188 (GRCm39)	L60P	probably damaging	Het
Nup188	A	G	2: 30,188,456 (GRCm39)	Y39C	probably benign	Het
Odf2	G	T	2: 29,816,815 (GRCm39)	G754C	probably benign	Het
Or10a2	A	T	7: 106,673,214 (GRCm39)	M60L	probably damaging	Het
Or12d15	A	G	17: 37,694,183 (GRCm39)	M242V	probably benign	Het
Or13d1	A	G	4: 52,971,419 (GRCm39)	Y266C	possibly damaging	Het
Or4b1	A	G	2: 89,979,522 (GRCm39)	I276T	possibly damaging	Het
Osbpl6	C	T	2: 76,382,468 (GRCm39)	P222S	probably benign	Het
Pcdhga3	T	C	18: 37,809,229 (GRCm39)	Y561H	probably benign	Het
Phykpl	G	A	11: 51,490,375 (GRCm39)	V419I	probably benign	Het
Pskh1	A	G	8: 106,640,142 (GRCm39)	Y274C	possibly damaging	Het
Rap1gap	G	T	4: 137,444,742 (GRCm39)	V219F	probably damaging	Het
Rapgef4	C	A	2: 72,005,212 (GRCm39)	H220N	probably benign	Het
Rcor3	G	T	1: 191,810,181 (GRCm39)	H165Q	possibly damaging	Het
Reg3d	T	C	6: 78,354,422 (GRCm39)	T60A	possibly damaging	Het
Rgs9	T	A	11: 109,116,549 (GRCm39)	D644V	probably damaging	Het
Rhob	T	A	12: 8,549,319 (GRCm39)	H105L	probably benign	Het
Rph3a	T	C	5: 121,101,892 (GRCm39)	K115E	probably damaging	Het
Rsf1	GG	GGGGACGGCCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scn4b	T	A	9: 45,058,013 (GRCm39)	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,231,672 (GRCm39)	I103T	probably damaging	Het
Sidt2	T	C	9: 45,852,658 (GRCm39)	T776A	possibly damaging	Het
Slc15a1	T	C	14: 121,702,389 (GRCm39)	I586V	probably benign	Het
Slc15a5	A	T	6: 137,961,456 (GRCm39)	V213E		Het
Stard13	C	A	5: 151,157,152 (GRCm39)	A10S	probably benign	Het
Taf6	C	A	5: 138,179,221 (GRCm39)	V406F	possibly damaging	Het
Tap2	G	T	17: 34,431,004 (GRCm39)	R368L	possibly damaging	Het
Tmem236	T	C	2: 14,223,889 (GRCm39)	V226A	probably benign	Het
Tmem87a	T	A	2: 120,210,093 (GRCm39)	I287F	possibly damaging	Het
Ttll13	A	T	7: 79,904,428 (GRCm39)	K351I	possibly damaging	Het
Ttn	T	A	2: 76,581,245 (GRCm39)	Y23216F	probably damaging	Het
Vmn2r27	T	C	6: 124,201,244 (GRCm39)	T238A	probably benign	Het
Vmn2r54	T	C	7: 12,366,055 (GRCm39)	Y293C	possibly damaging	Het
Vsig10l	T	C	7: 43,112,948 (GRCm39)	S69P		Het
Wdr83	G	A	8: 85,806,432 (GRCm39)	T122I	probably damaging	Het
Zfp219	A	G	14: 52,246,200 (GRCm39)	V309A	probably damaging	Het
Zfp354a	C	T	11: 50,960,788 (GRCm39)	S332F	probably damaging	Het
Zfp354b	T	C	11: 50,813,887 (GRCm39)	N346S	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
R6415:Adam9	UTSW	8	25,468,498 (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
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'- TCCTGTAAGGATATGGAAGGTGTC -3'
(R):5'- TCTTTACATCAGTCGGCTGC -3'

Sequencing Primer
(F):5'- TCCAATGGGGCGAGCAAC -3'
(R):5'- CTTATGAGCTGTGCCCTA -3'

Posted On

2022-01-20