Mutagenetix > Incidental Mutation

Incidental Mutation 'R1741:Adam24'

200356

Institutional Source

Beutler Lab

Gene Symbol

Adam24

Ensembl Gene

ENSMUSG00000046723

Gene Name

a disintegrin and metallopeptidase domain 24 (testase 1)

Synonyms

Dtgn5

MMRRC Submission

039773-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R1741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40675077-40682199 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40679603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 37 (Y37H)

Ref Sequence

ENSEMBL: ENSMUSP00000050727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051614]

AlphaFold

Q9R160

Predicted Effect

probably benign
Transcript: ENSMUST00000051614
AA Change: Y37H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000050727
Gene: ENSMUSG00000046723
AA Change: Y37H

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	160	3.3e-14	PFAM
Pfam:Reprolysin_2	193	389	6.3e-13	PFAM
Pfam:Reprolysin	208	398	7.8e-43	PFAM
Pfam:Reprolysin_5	209	382	3e-17	PFAM
Pfam:Reprolysin_4	209	392	4.9e-13	PFAM
Pfam:Reprolysin_3	232	353	9.9e-16	PFAM
DISIN	415	491	7.13e-39	SMART
ACR	492	628	7.74e-69	SMART
transmembrane domain	698	720	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210267

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

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. This gene is expressed in a regulated fashion during spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. Male mice lacking the encoded protein exhibit reduced fertility due to the higher incidence of polyspermic embryos. This gene is located adjacent to other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Males homozygous for a targeted null mutation are subfertile and produce an increased number of polyspermic embryos at the pronuclear stage. Female homozygotes show normal fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,660,506	N37S	probably damaging	Het
9530053A07Rik	G	T	7: 28,157,854	C2209F	probably damaging	Het
Acad10	T	C	5: 121,647,836	K230R	probably damaging	Het
Actl7a	A	G	4: 56,744,252	N260D	probably benign	Het
Ahcy	G	A	2: 155,064,234	A229V	probably benign	Het
Ap3b2	A	G	7: 81,467,599	V563A	possibly damaging	Het
Bcl9l	T	A	9: 44,509,689	M1427K	probably damaging	Het
Btf3	C	T	13: 98,316,296	M1I	probably null	Het
Btg4	A	T	9: 51,116,610	I27L	probably benign	Het
Ccdc171	A	G	4: 83,620,839	Y366C	probably damaging	Het
Chd3	A	G	11: 69,355,654	Y1085H	probably damaging	Het
Cnot10	T	C	9: 114,597,824	D616G	possibly damaging	Het
Crlf1	C	A	8: 70,500,906	D243E	probably damaging	Het
Cyp2b23	A	G	7: 26,673,077	V371A	possibly damaging	Het
Dennd2a	A	G	6: 39,493,157	S534P	probably damaging	Het
Eln	A	G	5: 134,729,184	V185A	unknown	Het
Epor	C	T	9: 21,959,771	G301D	probably damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fbxl21	A	T	13: 56,537,102	T340S	probably benign	Het
Fez1	T	A	9: 36,843,733	D9E	probably damaging	Het
Fsip2	T	C	2: 82,989,912	F5330L	probably benign	Het
Glis1	G	A	4: 107,568,347	R197Q	probably damaging	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gpr158	A	G	2: 21,827,548	N1153S	probably benign	Het
Gramd4	T	C	15: 86,091,529		probably null	Het
Hhatl	T	A	9: 121,789,059	Y210F	possibly damaging	Het
Hltf	T	C	3: 20,086,188	W422R	probably damaging	Het
Hspa5	T	C	2: 34,772,692	S87P	possibly damaging	Het
Il21	T	C	3: 37,227,662	H111R	probably benign	Het
Ip6k1	G	A	9: 108,040,984	G73S	probably benign	Het
Kdm5b	A	G	1: 134,618,017	D972G	possibly damaging	Het
Kif21b	C	T	1: 136,156,142	A709V	probably damaging	Het
Kmt2d	T	C	15: 98,845,234		probably benign	Het
Lrrc14b	A	G	13: 74,363,586	L125P	probably damaging	Het
Mapk8ip3	A	G	17: 24,899,854	S1169P	probably damaging	Het
Me3	A	T	7: 89,851,833	Y584F	probably damaging	Het
Mxra7	T	G	11: 116,816,244		probably null	Het
Nf1	T	C	11: 79,443,931	S870P	probably benign	Het
Npr2	G	A	4: 43,643,350	G525S	probably damaging	Het
Nyap1	A	T	5: 137,733,125	S726T	probably damaging	Het
Padi4	A	G	4: 140,746,170	V652A	probably damaging	Het
Pclo	A	G	5: 14,676,510		probably benign	Het
Pgm2	G	A	4: 99,964,865		probably null	Het
Piezo2	A	G	18: 63,021,173	S2512P	probably damaging	Het
Ptbp3	A	T	4: 59,482,624	D386E	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpn3	A	G	4: 57,254,922	V154A	probably damaging	Het
Rassf4	T	C	6: 116,639,489	E287G	probably damaging	Het
Rnh1	C	T	7: 141,164,023	R174H	probably benign	Het
Scn9a	T	A	2: 66,487,594	I1517F	probably damaging	Het
Sftpb	C	A	6: 72,305,813	A90E	probably benign	Het
Slc39a14	T	C	14: 70,318,744	K61R	probably damaging	Het
Tmem132d	A	C	5: 127,784,858	M733R	probably benign	Het
Tmem248	A	G	5: 130,236,823	I156V	probably benign	Het
Traf2	T	C	2: 25,524,483	D339G	probably damaging	Het
Trappc11	A	G	8: 47,529,327		probably null	Het
Tuba8	T	A	6: 121,222,768	I137N	possibly damaging	Het
Txlnb	A	G	10: 17,838,947	T376A	probably damaging	Het
Usp34	A	G	11: 23,364,103	T663A	probably benign	Het
Vmn2r26	T	A	6: 124,061,472	F669I	probably damaging	Het
Wdr95	G	A	5: 149,595,396		probably null	Het
Wfdc8	T	G	2: 164,608,869		probably benign	Het
Zfp64	A	C	2: 168,926,318	V458G	probably benign	Het
Zfp868	C	T	8: 69,611,868	G272D	probably damaging	Het

Other mutations in Adam24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02479:Adam24	APN	8	40679532	missense	probably benign	0.41
IGL02517:Adam24	APN	8	40680179	missense	probably damaging	1.00
R0195:Adam24	UTSW	8	40681766	missense	probably benign	0.00
R1067:Adam24	UTSW	8	40680754	nonsense	probably null
R1180:Adam24	UTSW	8	40681428	missense	probably damaging	1.00
R1438:Adam24	UTSW	8	40681392	missense	probably benign	0.19
R1779:Adam24	UTSW	8	40680965	missense	possibly damaging	0.83
R1940:Adam24	UTSW	8	40681361	nonsense	probably null
R2228:Adam24	UTSW	8	40680365	missense	probably benign	0.00
R2229:Adam24	UTSW	8	40680365	missense	probably benign	0.00
R2265:Adam24	UTSW	8	40680071	missense	possibly damaging	0.95
R2359:Adam24	UTSW	8	40680945	missense	possibly damaging	0.91
R3551:Adam24	UTSW	8	40679593	missense	probably benign	0.03
R3837:Adam24	UTSW	8	40680545	missense	probably benign
R4834:Adam24	UTSW	8	40679699	missense	probably damaging	1.00
R5121:Adam24	UTSW	8	40679511	missense	probably damaging	1.00
R5410:Adam24	UTSW	8	40681064	missense	probably benign	0.01
R5787:Adam24	UTSW	8	40680902	missense	possibly damaging	0.87
R5900:Adam24	UTSW	8	40681032	missense	probably benign	0.00
R6600:Adam24	UTSW	8	40680548	missense	probably damaging	1.00
R6633:Adam24	UTSW	8	40680487	missense	probably benign	0.12
R6672:Adam24	UTSW	8	40681533	missense	probably benign	0.01
R6904:Adam24	UTSW	8	40681503	missense	probably damaging	1.00
R7178:Adam24	UTSW	8	40680000	nonsense	probably null
R7542:Adam24	UTSW	8	40680809	missense	possibly damaging	0.46
R7578:Adam24	UTSW	8	40680255	missense	probably benign	0.01
R7708:Adam24	UTSW	8	40680519	missense	probably damaging	1.00
R8739:Adam24	UTSW	8	40680441	missense	possibly damaging	0.68
R8823:Adam24	UTSW	8	40680189	missense	probably benign	0.01
R9282:Adam24	UTSW	8	40680635	missense	probably damaging	1.00
R9434:Adam24	UTSW	8	40680245	missense	probably benign	0.04
R9508:Adam24	UTSW	8	40679902	missense	probably benign	0.28
R9591:Adam24	UTSW	8	40679659	missense	probably benign	0.00
X0010:Adam24	UTSW	8	40680015	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGGCAACAGGACCACATCCTATC -3'
(R):5'- TGAGACCACCATGACCCATAGATGC -3'

Sequencing Primer
(F):5'- AGGACCACATCCTATCCTCCTTC -3'
(R):5'- TGGACAAAAGGTCTGTCCTC -3'

Posted On

2014-05-23