Mutagenetix > Incidental Mutation

Incidental Mutation 'R0501:Adam19'

47140

Institutional Source

Beutler Lab

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

ADAM metallopeptidase domain 19

Synonyms

Mltnb

MMRRC Submission

038696-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0501 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

45946819-46038170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46013957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 316 (P316S)

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

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

AlphaFold

O35674

Predicted Effect

probably damaging
Transcript: ENSMUST00000011400
AA Change: P316S

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

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: P316S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151565

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,216 (GRCm39)	S415P	probably benign	Het
Adamts2	A	G	11: 50,558,972 (GRCm39)	D229G	probably benign	Het
Adcy10	C	T	1: 165,337,959 (GRCm39)	P191L	probably damaging	Het
Adgrv1	T	C	13: 81,707,269 (GRCm39)	Y1379C	probably damaging	Het
Akap9	T	C	5: 4,020,685 (GRCm39)	L1132P	probably damaging	Het
Aoah	A	G	13: 21,189,243 (GRCm39)	T489A	probably benign	Het
Apc2	T	C	10: 80,150,958 (GRCm39)	L1975P	probably damaging	Het
Bpifa5	A	T	2: 154,005,616 (GRCm39)	D66V	probably benign	Het
C230029F24Rik	T	C	1: 49,374,629 (GRCm39)		noncoding transcript	Het
Cacna1h	A	T	17: 25,607,641 (GRCm39)	V892E	probably damaging	Het
Car4	G	A	11: 84,854,268 (GRCm39)	V72I	probably benign	Het
Cfap91	C	G	16: 38,155,997 (GRCm39)	M75I	probably damaging	Het
Chst3	A	G	10: 60,022,049 (GRCm39)	L266P	probably damaging	Het
Ckap2l	G	A	2: 129,127,411 (GRCm39)	R256W	possibly damaging	Het
Cntn4	A	T	6: 106,595,296 (GRCm39)	D471V	probably damaging	Het
Cntrob	G	A	11: 69,213,694 (GRCm39)	S32F	probably damaging	Het
Cpne7	T	A	8: 123,852,994 (GRCm39)	N200K	possibly damaging	Het
Creb3l3	C	A	10: 80,922,416 (GRCm39)	M271I	probably benign	Het
Csmd1	T	A	8: 17,077,339 (GRCm39)	Q106L	probably damaging	Het
D7Ertd443e	G	A	7: 133,896,701 (GRCm39)	T563I	probably damaging	Het
Dmac1	T	G	4: 75,196,413 (GRCm39)	N26H	unknown	Het
Dop1b	T	C	16: 93,549,750 (GRCm39)	F230L	probably benign	Het
Dpp6	T	A	5: 27,930,604 (GRCm39)	I812N	probably damaging	Het
Fabp12	T	C	3: 10,315,203 (GRCm39)	D48G	probably benign	Het
Fbn1	G	A	2: 125,143,669 (GRCm39)	T2820M	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fcho2	A	T	13: 98,901,023 (GRCm39)	S277R	possibly damaging	Het
Fmo2	A	G	1: 162,704,497 (GRCm39)	S470P	probably benign	Het
Gm17541	T	G	12: 4,739,730 (GRCm39)		probably benign	Het
Gm4353	A	T	7: 115,682,706 (GRCm39)	Y292N	probably benign	Het
Igkv4-71	A	T	6: 69,220,290 (GRCm39)	I69N	probably damaging	Het
Insrr	G	T	3: 87,717,991 (GRCm39)	A871S	probably benign	Het
Irs2	C	T	8: 11,056,396 (GRCm39)	V679M	probably damaging	Het
Itpr3	T	A	17: 27,326,263 (GRCm39)	H1344Q	probably benign	Het
Kcnma1	T	C	14: 23,361,784 (GRCm39)	M1074V	possibly damaging	Het
Kif1a	G	A	1: 92,983,967 (GRCm39)	R602W	probably damaging	Het
Kif21b	A	T	1: 136,090,837 (GRCm39)	D1215V	probably benign	Het
Mapk13	G	A	17: 28,995,327 (GRCm39)	V183M	probably damaging	Het
Mbp	C	T	18: 82,593,322 (GRCm39)	S100F	probably damaging	Het
Mcm6	A	G	1: 128,283,373 (GRCm39)	I44T	probably benign	Het
Ncor1	T	A	11: 62,264,148 (GRCm39)	D418V	possibly damaging	Het
Nid2	T	A	14: 19,839,736 (GRCm39)		probably null	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Or10a5	A	T	7: 106,635,439 (GRCm39)	T26S	probably benign	Het
Or10ak14	C	A	4: 118,611,027 (GRCm39)	C238F	probably benign	Het
Or12e9	A	T	2: 87,201,896 (GRCm39)	R7W	probably damaging	Het
Or13e8	A	C	4: 43,697,079 (GRCm39)	C31W	probably damaging	Het
Or1j1	A	T	2: 36,702,492 (GRCm39)	L204*	probably null	Het
Or2ag1	A	T	7: 106,313,810 (GRCm39)	M26K	probably benign	Het
Or2ag18	G	A	7: 106,405,018 (GRCm39)	S217F	probably damaging	Het
Or4a68	T	C	2: 89,270,060 (GRCm39)	T188A	probably benign	Het
Or4e1	T	A	14: 52,701,383 (GRCm39)	M1L	possibly damaging	Het
Or5d14	A	T	2: 87,880,815 (GRCm39)	I51N	probably damaging	Het
Or5m12	A	G	2: 85,735,348 (GRCm39)	F17L	probably damaging	Het
Or7g35	T	A	9: 19,495,914 (GRCm39)	I27N	probably damaging	Het
Pcgf3	T	A	5: 108,622,978 (GRCm39)	C38S	probably damaging	Het
Pdia4	A	T	6: 47,777,936 (GRCm39)	V352E	probably damaging	Het
Pik3c2a	C	A	7: 115,953,290 (GRCm39)	V1202L	probably damaging	Het
Rbm15	G	T	3: 107,239,846 (GRCm39)	A184E	possibly damaging	Het
Rsph3a	T	A	17: 8,197,952 (GRCm39)	L442*	probably null	Het
Scg2	G	C	1: 79,413,320 (GRCm39)	L468V	probably damaging	Het
Sdk1	A	T	5: 141,923,473 (GRCm39)	I365L	probably benign	Het
Setdb1	A	G	3: 95,246,140 (GRCm39)	V595A	probably benign	Het
Skic3	A	C	13: 76,295,925 (GRCm39)	M1063L	probably benign	Het
Slc22a22	T	A	15: 57,113,046 (GRCm39)	T398S	probably benign	Het
Stk11	C	A	10: 79,962,119 (GRCm39)	P217Q	probably damaging	Het
Tes	G	A	6: 17,097,557 (GRCm39)	D222N	probably benign	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Tmem214	G	T	5: 31,029,876 (GRCm39)	R251L	probably damaging	Het
Tmem253	T	A	14: 52,256,036 (GRCm39)	I105N	probably damaging	Het
Toe1	A	G	4: 116,664,682 (GRCm39)	V12A	probably benign	Het
Top1	C	A	2: 160,556,079 (GRCm39)	H513N	probably damaging	Het
Tph1	G	T	7: 46,299,412 (GRCm39)	Y376*	probably null	Het
Trim45	T	A	3: 100,830,535 (GRCm39)	L103Q	probably damaging	Het
Ttn	T	A	2: 76,774,518 (GRCm39)		probably null	Het
Twnk	T	C	19: 44,996,185 (GRCm39)	V206A	probably damaging	Het
Ube2z	A	G	11: 95,941,114 (GRCm39)	S343P	probably damaging	Het
Vmn2r8	T	C	5: 108,951,049 (GRCm39)	D132G	probably benign	Het
Wdr20rt	A	T	12: 65,272,581 (GRCm39)	T15S	probably benign	Het
Wdr59	C	T	8: 112,185,579 (GRCm39)	R841Q	possibly damaging	Het
Wdtc1	A	G	4: 133,036,151 (GRCm39)	F130L	possibly damaging	Het
Wnk1	C	T	6: 119,939,764 (GRCm39)	R43Q	probably damaging	Het
Ythdf3	T	C	3: 16,259,236 (GRCm39)	L461P	probably damaging	Het
Zcchc2	T	G	1: 105,943,821 (GRCm39)	F462C	possibly damaging	Het

Other mutations in Adam19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Adam19	APN	11	46,003,610 (GRCm39)	missense	probably damaging	1.00
IGL01727:Adam19	APN	11	46,012,380 (GRCm39)	missense	probably benign
IGL01758:Adam19	APN	11	46,003,751 (GRCm39)	missense	probably benign	0.01
IGL02160:Adam19	APN	11	46,030,522 (GRCm39)	missense	probably damaging	0.99
IGL02421:Adam19	APN	11	46,028,380 (GRCm39)	missense	probably damaging	0.96
IGL02572:Adam19	APN	11	46,022,548 (GRCm39)	nonsense	probably null
IGL02995:Adam19	APN	11	46,027,176 (GRCm39)	missense	probably benign	0.00
IGL03171:Adam19	APN	11	46,029,681 (GRCm39)	missense	probably damaging	0.98
IGL03237:Adam19	APN	11	46,028,383 (GRCm39)	missense	probably benign
R0003:Adam19	UTSW	11	46,019,616 (GRCm39)	missense	probably damaging	1.00
R0026:Adam19	UTSW	11	46,027,086 (GRCm39)	missense	probably damaging	1.00
R0158:Adam19	UTSW	11	46,033,861 (GRCm39)	missense	probably damaging	1.00
R0304:Adam19	UTSW	11	46,018,219 (GRCm39)	missense	possibly damaging	0.91
R0488:Adam19	UTSW	11	46,029,757 (GRCm39)	missense	probably damaging	0.98
R0591:Adam19	UTSW	11	46,012,238 (GRCm39)	splice site	probably benign
R0734:Adam19	UTSW	11	46,018,230 (GRCm39)	missense	probably damaging	0.99
R0747:Adam19	UTSW	11	46,009,322 (GRCm39)	splice site	probably null
R0771:Adam19	UTSW	11	46,012,280 (GRCm39)	missense	possibly damaging	0.92
R1052:Adam19	UTSW	11	46,018,092 (GRCm39)	missense	probably damaging	0.99
R1573:Adam19	UTSW	11	46,004,445 (GRCm39)	splice site	probably benign
R1735:Adam19	UTSW	11	46,029,744 (GRCm39)	missense	probably benign	0.26
R1830:Adam19	UTSW	11	46,018,105 (GRCm39)	missense	probably damaging	0.98
R1911:Adam19	UTSW	11	46,012,281 (GRCm39)	missense	probably damaging	1.00
R2092:Adam19	UTSW	11	45,951,731 (GRCm39)	splice site	probably null
R3749:Adam19	UTSW	11	46,028,437 (GRCm39)	missense	probably benign	0.00
R3893:Adam19	UTSW	11	46,019,665 (GRCm39)	missense	probably damaging	1.00
R3916:Adam19	UTSW	11	45,951,762 (GRCm39)	missense	probably benign	0.25
R3917:Adam19	UTSW	11	45,951,762 (GRCm39)	missense	probably benign	0.25
R4506:Adam19	UTSW	11	46,009,271 (GRCm39)	missense	possibly damaging	0.67
R4767:Adam19	UTSW	11	46,029,804 (GRCm39)	critical splice donor site	probably null
R5055:Adam19	UTSW	11	46,013,996 (GRCm39)	missense	probably damaging	1.00
R5313:Adam19	UTSW	11	46,022,603 (GRCm39)	missense	probably damaging	1.00
R5329:Adam19	UTSW	11	46,015,853 (GRCm39)	missense	probably damaging	0.99
R5567:Adam19	UTSW	11	46,027,077 (GRCm39)	missense	probably damaging	1.00
R5602:Adam19	UTSW	11	46,027,142 (GRCm39)	missense	probably benign
R6198:Adam19	UTSW	11	46,012,329 (GRCm39)	missense	probably damaging	1.00
R6875:Adam19	UTSW	11	46,003,702 (GRCm39)	missense	probably benign
R7011:Adam19	UTSW	11	46,033,845 (GRCm39)	missense	probably benign	0.00
R7163:Adam19	UTSW	11	46,022,544 (GRCm39)	missense	probably benign
R7213:Adam19	UTSW	11	46,012,298 (GRCm39)	missense	probably benign	0.20
R7267:Adam19	UTSW	11	46,012,403 (GRCm39)	nonsense	probably null
R7896:Adam19	UTSW	11	46,028,370 (GRCm39)	missense	probably damaging	1.00
R8012:Adam19	UTSW	11	45,955,873 (GRCm39)	missense	possibly damaging	0.74
R8059:Adam19	UTSW	11	46,027,293 (GRCm39)	splice site	probably benign
R8243:Adam19	UTSW	11	46,015,909 (GRCm39)	missense	probably damaging	1.00
R8357:Adam19	UTSW	11	46,030,939 (GRCm39)	missense	probably damaging	0.96
R8419:Adam19	UTSW	11	46,015,850 (GRCm39)	missense	possibly damaging	0.77
R8457:Adam19	UTSW	11	46,030,939 (GRCm39)	missense	probably damaging	0.96
R9163:Adam19	UTSW	11	46,018,176 (GRCm39)	missense	probably benign	0.02
R9349:Adam19	UTSW	11	46,022,570 (GRCm39)	nonsense	probably null
R9489:Adam19	UTSW	11	46,028,449 (GRCm39)	missense	probably benign	0.10
R9579:Adam19	UTSW	11	46,009,262 (GRCm39)	missense	probably benign	0.00
R9641:Adam19	UTSW	11	46,027,149 (GRCm39)	missense	probably damaging	1.00
X0067:Adam19	UTSW	11	45,946,942 (GRCm39)	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- TCTATGAATCAGGGATGGGGCACAG -3'
(R):5'- TCCTCCAGCCCGCTATGGAATAATAC -3'

Sequencing Primer
(F):5'- ATGGGGCACAGCTTTTCAAG -3'
(R):5'- TGGAGGGCCATTTTTACCAC -3'

Posted On

2013-06-12