Mutagenetix > Incidental Mutation

Incidental Mutation 'R9163:Adam19'

695861

Institutional Source

Beutler Lab

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

a disintegrin and metallopeptidase domain 19 (meltrin beta)

Synonyms

Mltnb

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9163 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46055992-46147343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46127349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 413 (T413A)

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011400]

AlphaFold

O35674

Predicted Effect

probably benign
Transcript: ENSMUST00000011400
AA Change: T413A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: T413A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Pep_M12B_propep	32	163	9.4e-27	PFAM
Pfam:Reprolysin_5	209	388	1.9e-25	PFAM
Pfam:Reprolysin_4	209	399	1.5e-15	PFAM
Pfam:Reprolysin	211	409	1.3e-68	PFAM
Pfam:Reprolysin_2	231	399	6.1e-19	PFAM
Pfam:Reprolysin_3	235	357	1.2e-19	PFAM
DISIN	426	501	9.7e-41	SMART
ACR	502	650	7.46e-62	SMART
transmembrane domain	704	726	N/A	INTRINSIC
low complexity region	788	797	N/A	INTRINSIC
low complexity region	832	846	N/A	INTRINSIC
low complexity region	886	905	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: This gene encodes a cell surface glycoprotein and member of the ADAM (a disintegrin and metalloproteinase) family of endopeptidases. The encoded protein may play a role in the ectodomain shedding of neuregulin proteins. Homozygous knockout mice for this gene exhibit heart development defects and perinatal lethality. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that undergoes proteolytic processing to generate a mature protein product. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice exhibit cardiac developmental defects and die perinatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,245,281	S351P	possibly damaging	Het
4930558K02Rik	A	G	1: 161,949,605	S128P	probably benign	Het
Adam17	C	T	12: 21,351,587	V136I	probably benign	Het
Adam28	T	C	14: 68,629,082	K443E	probably damaging	Het
Adgrv1	T	A	13: 81,419,422	T5211S	probably benign	Het
Adnp2	A	T	18: 80,128,985	N736K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,070	W1082*	probably null	Het
Ap3b2	T	G	7: 81,463,798	M888L	unknown	Het
Arhgap35	C	A	7: 16,561,624	R1172L	possibly damaging	Het
Arrdc3	T	A	13: 80,893,387	D402E	probably benign	Het
Ccdc14	T	C	16: 34,690,748	F31L	possibly damaging	Het
Ccdc173	A	T	2: 69,776,166	I302K	probably benign	Het
Cd5l	T	G	3: 87,367,625	L157R	probably benign	Het
Cdc14a	G	T	3: 116,328,564	D251E	possibly damaging	Het
Chmp2a	T	A	7: 13,032,718	Q91L	possibly damaging	Het
Col12a1	A	G	9: 79,641,447		probably null	Het
Ctdsp1	G	T	1: 74,394,967	R201L	possibly damaging	Het
Dhx15	C	T	5: 52,184,856	R40H	probably damaging	Het
Dnph1	A	G	17: 46,498,934	Y134C	probably damaging	Het
Foxo1	T	A	3: 52,345,880	V488D	probably benign	Het
Gcn1l1	C	A	5: 115,604,885	N1538K	probably benign	Het
Gldc	T	A	19: 30,134,286	E500V	probably benign	Het
Hhip	G	A	8: 79,975,114	T597I	probably benign	Het
Hmgn1	A	G	16: 96,127,309		probably null	Het
Ifi205	A	T	1: 174,017,422	S265T	possibly damaging	Het
Igkv1-131	T	C	6: 67,766,769	M2V	probably benign	Het
Irgm2	T	G	11: 58,220,454	S324A	probably damaging	Het
Jarid2	C	G	13: 44,911,251	D937E	possibly damaging	Het
Jrkl	A	T	9: 13,245,399	W86R	probably damaging	Het
Kbtbd3	A	G	9: 4,330,584	I319M	probably benign	Het
Klhl7	T	C	5: 24,159,467	Y500H	probably damaging	Het
Lats1	C	T	10: 7,702,288	A392V	probably benign	Het
Llgl1	G	T	11: 60,709,576	A584S	probably benign	Het
Macf1	G	T	4: 123,509,893	S560Y	probably damaging	Het
Olfr1206	C	T	2: 88,865,451	P282L	possibly damaging	Het
Olfr250	T	A	9: 38,368,082	C169S	probably damaging	Het
Pde10a	G	A	17: 8,962,959	C498Y	possibly damaging	Het
Pde4dip	A	G	3: 97,751,807		probably null	Het
Pdhx	G	A	2: 103,022,216	P434L	probably damaging	Het
Pdlim3	T	C	8: 45,885,674		probably null	Het
Pik3c3	T	C	18: 30,294,430		probably null	Het
Prkag1	T	C	15: 98,814,019	K242R	possibly damaging	Het
Rap1b	A	G	10: 117,818,486	S150P	possibly damaging	Het
Scn4a	A	G	11: 106,326,250	S1102P	probably damaging	Het
Scrib	A	G	15: 76,049,259	Y1332H	probably damaging	Het
Sim1	A	G	10: 50,896,069	E58G	probably benign	Het
Slc13a1	C	T	6: 24,097,579		probably null	Het
Slc17a8	A	G	10: 89,589,582	V380A	probably damaging	Het
Slc5a4b	G	T	10: 76,081,331	Y290*	probably null	Het
Slco4c1	A	G	1: 96,836,908	F480L	probably damaging	Het
Srcap	T	C	7: 127,521,990	V146A	unknown	Het
Ssc5d	T	A	7: 4,933,433	D559E	probably damaging	Het
Sstr5	A	C	17: 25,491,610	I215S	probably damaging	Het
Stambpl1	G	A	19: 34,235,234	C268Y	probably benign	Het
Stard3nl	C	A	13: 19,376,639		probably benign	Het
Sycp3	T	C	10: 88,463,872		probably null	Het
Syne2	A	T	12: 75,962,575	M2417L	possibly damaging	Het
Tenm4	T	G	7: 96,823,873	Y959D	probably damaging	Het
Tmem132d	T	A	5: 127,792,506	D588V	possibly damaging	Het
Tnfrsf26	T	C	7: 143,618,393	E60G	possibly damaging	Het
Topbp1	A	G	9: 103,328,568	R802G	probably benign	Het
Trmu	T	C	15: 85,896,895	V360A	probably benign	Het
Tshz2	G	A	2: 169,884,642	C386Y	probably damaging	Het
Ttn	A	T	2: 76,870,427	D61E		Het
Upf1	T	C	8: 70,340,024	T345A	probably benign	Het
Vmn2r23	T	A	6: 123,741,823	C712S	probably damaging	Het
Vmn2r44	C	T	7: 8,368,092	V652I	probably benign	Het
Wfdc1	T	C	8: 119,666,563	V8A	probably benign	Het
Xrn1	A	G	9: 95,998,221	Y738C	probably benign	Het
Zfp618	T	G	4: 63,133,274	V764G	probably damaging	Het
Znfx1	A	T	2: 167,056,341	M221K	probably damaging	Het

Other mutations in Adam19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Adam19	APN	11	46112783	missense	probably damaging	1.00
IGL01727:Adam19	APN	11	46121553	missense	probably benign
IGL01758:Adam19	APN	11	46112924	missense	probably benign	0.01
IGL02160:Adam19	APN	11	46139695	missense	probably damaging	0.99
IGL02421:Adam19	APN	11	46137553	missense	probably damaging	0.96
IGL02572:Adam19	APN	11	46131721	nonsense	probably null
IGL02995:Adam19	APN	11	46136349	missense	probably benign	0.00
IGL03171:Adam19	APN	11	46138854	missense	probably damaging	0.98
IGL03237:Adam19	APN	11	46137556	missense	probably benign
R0003:Adam19	UTSW	11	46128789	missense	probably damaging	1.00
R0026:Adam19	UTSW	11	46136259	missense	probably damaging	1.00
R0158:Adam19	UTSW	11	46143034	missense	probably damaging	1.00
R0304:Adam19	UTSW	11	46127392	missense	possibly damaging	0.91
R0488:Adam19	UTSW	11	46138930	missense	probably damaging	0.98
R0501:Adam19	UTSW	11	46123130	missense	probably damaging	1.00
R0591:Adam19	UTSW	11	46121411	splice site	probably benign
R0734:Adam19	UTSW	11	46127403	missense	probably damaging	0.99
R0747:Adam19	UTSW	11	46118495	splice site	probably null
R0771:Adam19	UTSW	11	46121453	missense	possibly damaging	0.92
R1052:Adam19	UTSW	11	46127265	missense	probably damaging	0.99
R1573:Adam19	UTSW	11	46113618	splice site	probably benign
R1735:Adam19	UTSW	11	46138917	missense	probably benign	0.26
R1830:Adam19	UTSW	11	46127278	missense	probably damaging	0.98
R1911:Adam19	UTSW	11	46121454	missense	probably damaging	1.00
R2092:Adam19	UTSW	11	46060904	splice site	probably null
R3749:Adam19	UTSW	11	46137610	missense	probably benign	0.00
R3893:Adam19	UTSW	11	46128838	missense	probably damaging	1.00
R3916:Adam19	UTSW	11	46060935	missense	probably benign	0.25
R3917:Adam19	UTSW	11	46060935	missense	probably benign	0.25
R4506:Adam19	UTSW	11	46118444	missense	possibly damaging	0.67
R4767:Adam19	UTSW	11	46138977	critical splice donor site	probably null
R5055:Adam19	UTSW	11	46123169	missense	probably damaging	1.00
R5313:Adam19	UTSW	11	46131776	missense	probably damaging	1.00
R5329:Adam19	UTSW	11	46125026	missense	probably damaging	0.99
R5567:Adam19	UTSW	11	46136250	missense	probably damaging	1.00
R5602:Adam19	UTSW	11	46136315	missense	probably benign
R6198:Adam19	UTSW	11	46121502	missense	probably damaging	1.00
R6875:Adam19	UTSW	11	46112875	missense	probably benign
R7011:Adam19	UTSW	11	46143018	missense	probably benign	0.00
R7163:Adam19	UTSW	11	46131717	missense	probably benign
R7213:Adam19	UTSW	11	46121471	missense	probably benign	0.20
R7267:Adam19	UTSW	11	46121576	nonsense	probably null
R7896:Adam19	UTSW	11	46137543	missense	probably damaging	1.00
R8012:Adam19	UTSW	11	46065046	missense	possibly damaging	0.74
R8059:Adam19	UTSW	11	46136466	splice site	probably benign
R8243:Adam19	UTSW	11	46125082	missense	probably damaging	1.00
R8357:Adam19	UTSW	11	46140112	missense	probably damaging	0.96
R8419:Adam19	UTSW	11	46125023	missense	possibly damaging	0.77
R8457:Adam19	UTSW	11	46140112	missense	probably damaging	0.96
R9349:Adam19	UTSW	11	46131743	nonsense	probably null
R9489:Adam19	UTSW	11	46137622	missense	probably benign	0.10
R9579:Adam19	UTSW	11	46118435	missense	probably benign	0.00
X0067:Adam19	UTSW	11	46056115	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- TCATCCAAGTGAACTAAGCCTC -3'
(R):5'- TCCTTTCCATAGGAAGGACCG -3'

Sequencing Primer
(F):5'- CCAAGTGAACTAAGCCTCTTGAGTG -3'
(R):5'- CTTTCCATAGGAAGGACCGCATTG -3'

Posted On

2022-02-07