Mutagenetix > Incidental Mutation

Incidental Mutation 'R7542:Adam24'

583952

Institutional Source

Beutler Lab

Gene Symbol

Adam24

Ensembl Gene

ENSMUSG00000046723

Gene Name

ADAM metallopeptidase domain 24

Synonyms

Dtgn5

MMRRC Submission

045614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7542 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41128118-41135238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41133848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 439 (T439S)

Ref Sequence

ENSEMBL: ENSMUSP00000050727 (fasta)

Gene Model

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

AlphaFold

Q9R160

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051614
AA Change: T439S

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050727
Gene: ENSMUSG00000046723
AA Change: T439S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,747,732 (GRCm39)	S1552T		Het
Akap6	A	G	12: 53,116,017 (GRCm39)	E1040G	probably damaging	Het
Alms1	A	T	6: 85,606,344 (GRCm39)	T2196S	possibly damaging	Het
Alox12e	T	C	11: 70,212,582 (GRCm39)	Q89R	possibly damaging	Het
AW551984	T	A	9: 39,505,927 (GRCm39)	E423D	possibly damaging	Het
Ccpg1	T	A	9: 72,919,741 (GRCm39)	V452D	probably damaging	Het
Cdk5r1	T	C	11: 80,369,190 (GRCm39)	F286L	probably damaging	Het
Cgref1	A	T	5: 31,090,937 (GRCm39)	N292K	probably damaging	Het
Clgn	A	T	8: 84,122,174 (GRCm39)	S32C	possibly damaging	Het
Csk	C	A	9: 57,536,283 (GRCm39)		probably null	Het
Dchs2	A	G	3: 83,176,591 (GRCm39)	T850A	probably benign	Het
Defb2	T	C	8: 22,333,360 (GRCm39)	V45A	probably benign	Het
Disp2	A	G	2: 118,621,599 (GRCm39)	Q777R	probably damaging	Het
Dll1	C	T	17: 15,590,609 (GRCm39)	C369Y	probably damaging	Het
Dnah7c	A	G	1: 46,823,658 (GRCm39)	I3766V	probably benign	Het
Elapor1	A	T	3: 108,365,543 (GRCm39)		probably benign	Het
Fam53a	A	G	5: 33,764,815 (GRCm39)	M297T	probably damaging	Het
Fat4	A	G	3: 39,035,504 (GRCm39)	D3052G	possibly damaging	Het
Fat4	A	T	3: 39,035,770 (GRCm39)	I3141F	possibly damaging	Het
Fbxw10	T	C	11: 62,741,422 (GRCm39)	V180A	probably benign	Het
Frem2	A	T	3: 53,560,000 (GRCm39)	D1502E	probably damaging	Het
Fsip2	A	T	2: 82,815,196 (GRCm39)	N3643I	possibly damaging	Het
Furin	A	G	7: 80,043,207 (GRCm39)	S335P	probably damaging	Het
Glb1l3	C	A	9: 26,729,491 (GRCm39)	A659S	possibly damaging	Het
Gm8011	A	T	14: 42,288,741 (GRCm39)	R175*	probably null	Het
Gna15	A	G	10: 81,350,136 (GRCm39)	S89P	probably damaging	Het
Grm2	A	T	9: 106,528,368 (GRCm39)	L172Q	probably damaging	Het
Iqcn	A	G	8: 71,161,415 (GRCm39)	T203A	possibly damaging	Het
Kcnc3	A	G	7: 44,245,138 (GRCm39)	D476G	possibly damaging	Het
Kcnh6	A	G	11: 105,905,387 (GRCm39)	T216A	possibly damaging	Het
Kdm2a	G	A	19: 4,383,858 (GRCm39)		probably benign	Het
Lrrc9	T	C	12: 72,553,094 (GRCm39)	I1332T	probably damaging	Het
Maea	T	C	5: 33,529,007 (GRCm39)	C317R	probably damaging	Het
Manba	T	C	3: 135,272,354 (GRCm39)	V707A	probably benign	Het
Mcph1	C	T	8: 18,681,705 (GRCm39)	R281C	probably benign	Het
Med25	A	T	7: 44,541,215 (GRCm39)	D99E	probably damaging	Het
Megf10	C	A	18: 57,322,642 (GRCm39)	D62E	probably benign	Het
Minar1	T	A	9: 89,483,964 (GRCm39)	T478S	probably damaging	Het
Myod1	A	T	7: 46,026,097 (GRCm39)	M1L	probably benign	Het
Nav3	A	T	10: 109,659,394 (GRCm39)	M741K	possibly damaging	Het
Odf2l	A	C	3: 144,859,197 (GRCm39)	K618T	probably damaging	Het
Or4c107	A	T	2: 88,789,119 (GRCm39)	E103V	probably benign	Het
Pcdha2	G	A	18: 37,073,142 (GRCm39)	G258R	probably damaging	Het
Pcdha3	G	A	18: 37,080,784 (GRCm39)	A509T	possibly damaging	Het
Pde4dip	A	G	3: 97,673,971 (GRCm39)	V315A	possibly damaging	Het
Prim1	T	C	10: 127,853,903 (GRCm39)	V107A	probably damaging	Het
Pxdc1	A	G	13: 34,822,146 (GRCm39)		probably null	Het
Rab7b	C	T	1: 131,639,379 (GRCm39)	H182Y	probably benign	Het
Reln	C	A	5: 22,160,179 (GRCm39)	G2130V	probably damaging	Het
Retreg1	T	A	15: 25,941,296 (GRCm39)	M1K	probably null	Het
Rras	G	A	7: 44,669,766 (GRCm39)	R94Q	probably damaging	Het
Rundc3a	T	A	11: 102,290,871 (GRCm39)	L318Q	probably benign	Het
Scgb2b18	A	T	7: 32,872,747 (GRCm39)		probably null	Het
Setd1b	A	T	5: 123,286,510 (GRCm39)	M519L	unknown	Het
Tep1	G	A	14: 51,099,948 (GRCm39)	Q426*	probably null	Het
Tesk1	G	T	4: 43,445,941 (GRCm39)	M291I	probably benign	Het
Tgs1	A	G	4: 3,595,439 (GRCm39)	D536G	probably benign	Het
Thbs1	C	T	2: 117,951,655 (GRCm39)	T825M	probably damaging	Het
Tmem59l	T	C	8: 70,937,814 (GRCm39)	N189D	possibly damaging	Het
Trim30c	A	T	7: 104,031,425 (GRCm39)	D463E	possibly damaging	Het
Trpc4	A	G	3: 54,223,075 (GRCm39)	Y706C	probably damaging	Het
Ttc13	A	T	8: 125,401,842 (GRCm39)		probably null	Het
Tulp1	T	C	17: 28,582,729 (GRCm39)	K140E	probably benign	Het
Urb2	A	G	8: 124,755,327 (GRCm39)	I345V	probably benign	Het
Vmn2r43	T	C	7: 8,258,488 (GRCm39)	M242V	probably benign	Het
Zcwpw1	T	C	5: 137,817,785 (GRCm39)	V509A	probably benign	Het
Zfp202	T	C	9: 40,122,443 (GRCm39)	C402R	probably benign	Het

Other mutations in Adam24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02479:Adam24	APN	8	41,132,571 (GRCm39)	missense	probably benign	0.41
IGL02517:Adam24	APN	8	41,133,218 (GRCm39)	missense	probably damaging	1.00
R0195:Adam24	UTSW	8	41,134,805 (GRCm39)	missense	probably benign	0.00
R1067:Adam24	UTSW	8	41,133,793 (GRCm39)	nonsense	probably null
R1180:Adam24	UTSW	8	41,134,467 (GRCm39)	missense	probably damaging	1.00
R1438:Adam24	UTSW	8	41,134,431 (GRCm39)	missense	probably benign	0.19
R1741:Adam24	UTSW	8	41,132,642 (GRCm39)	missense	probably benign	0.00
R1779:Adam24	UTSW	8	41,134,004 (GRCm39)	missense	possibly damaging	0.83
R1940:Adam24	UTSW	8	41,134,400 (GRCm39)	nonsense	probably null
R2228:Adam24	UTSW	8	41,133,404 (GRCm39)	missense	probably benign	0.00
R2229:Adam24	UTSW	8	41,133,404 (GRCm39)	missense	probably benign	0.00
R2265:Adam24	UTSW	8	41,133,110 (GRCm39)	missense	possibly damaging	0.95
R2359:Adam24	UTSW	8	41,133,984 (GRCm39)	missense	possibly damaging	0.91
R3551:Adam24	UTSW	8	41,132,632 (GRCm39)	missense	probably benign	0.03
R3837:Adam24	UTSW	8	41,133,584 (GRCm39)	missense	probably benign
R4834:Adam24	UTSW	8	41,132,738 (GRCm39)	missense	probably damaging	1.00
R5121:Adam24	UTSW	8	41,132,550 (GRCm39)	missense	probably damaging	1.00
R5410:Adam24	UTSW	8	41,134,103 (GRCm39)	missense	probably benign	0.01
R5787:Adam24	UTSW	8	41,133,941 (GRCm39)	missense	possibly damaging	0.87
R5900:Adam24	UTSW	8	41,134,071 (GRCm39)	missense	probably benign	0.00
R6600:Adam24	UTSW	8	41,133,587 (GRCm39)	missense	probably damaging	1.00
R6633:Adam24	UTSW	8	41,133,526 (GRCm39)	missense	probably benign	0.12
R6672:Adam24	UTSW	8	41,134,572 (GRCm39)	missense	probably benign	0.01
R6904:Adam24	UTSW	8	41,134,542 (GRCm39)	missense	probably damaging	1.00
R7178:Adam24	UTSW	8	41,133,039 (GRCm39)	nonsense	probably null
R7578:Adam24	UTSW	8	41,133,294 (GRCm39)	missense	probably benign	0.01
R7708:Adam24	UTSW	8	41,133,558 (GRCm39)	missense	probably damaging	1.00
R8739:Adam24	UTSW	8	41,133,480 (GRCm39)	missense	possibly damaging	0.68
R8823:Adam24	UTSW	8	41,133,228 (GRCm39)	missense	probably benign	0.01
R9282:Adam24	UTSW	8	41,133,674 (GRCm39)	missense	probably damaging	1.00
R9434:Adam24	UTSW	8	41,133,284 (GRCm39)	missense	probably benign	0.04
R9508:Adam24	UTSW	8	41,132,941 (GRCm39)	missense	probably benign	0.28
R9591:Adam24	UTSW	8	41,132,698 (GRCm39)	missense	probably benign	0.00
X0010:Adam24	UTSW	8	41,133,054 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTGCTACAATGGATAGTTCCC -3'
(R):5'- TAGCAGTAGCCATCACCAGG -3'

Sequencing Primer
(F):5'- CTCAGCAACTGTAGTTATGAAGTC -3'
(R):5'- GGCAAGAGGTCCCATCCTGTAC -3'

Posted On

2019-10-17