Mutagenetix > Incidental Mutation

Incidental Mutation 'R1593:Adam1a'

175605

Institutional Source

Beutler Lab

Gene Symbol

Adam1a

Ensembl Gene

ENSMUSG00000072647

Gene Name

a disintegrin and metallopeptidase domain 1a

Synonyms

fertilin alpha, Ftna, PH-30 alpha

MMRRC Submission

039630-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1593 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121656667-121659758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 121657706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 529 (I529S)

Ref Sequence

ENSEMBL: ENSMUSP00000098320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100757] [ENSMUST00000111795] [ENSMUST00000125946] [ENSMUST00000156080] [ENSMUST00000200170]

AlphaFold

Q60813

Predicted Effect

probably benign
Transcript: ENSMUST00000100757
AA Change: I529S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: I529S

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	70	191	1.5e-18	PFAM
Pfam:Reprolysin_5	233	410	2.8e-15	PFAM
Pfam:Reprolysin_4	234	421	6.3e-9	PFAM
Pfam:Reprolysin	235	429	1.3e-70	PFAM
Pfam:Reprolysin_3	255	381	3.8e-14	PFAM
Pfam:Reprolysin_2	255	419	5.6e-9	PFAM
DISIN	447	520	6.45e-37	SMART
ACR	521	660	4.59e-62	SMART
EGF	666	697	1.99e1	SMART
transmembrane domain	741	763	N/A	INTRINSIC
low complexity region	764	791	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111795

SMART Domains

Protein: ENSMUSP00000144614
Gene: ENSMUSG00000029452

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125946

SMART Domains

Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340

Domain	Start	End	E-Value	Type
S_TKc	22	304	5.3e-84	SMART
coiled coil region	407	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156080

SMART Domains

Protein: ENSMUSP00000121579
Gene: ENSMUSG00000029452

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
transmembrane domain	140	162	N/A	INTRINSIC
transmembrane domain	205	227	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200170

SMART Domains

Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647

Domain	Start	End	E-Value	Type
S_TKc	22	304	8.22e-84	SMART
coiled coil region	407	432	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display male infertility with asthenozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	T	11: 100,372,581 (GRCm39)	I902N	possibly damaging	Het
Acsl6	A	G	11: 54,214,134 (GRCm39)	D88G	probably damaging	Het
Ap3b1	T	C	13: 94,638,435 (GRCm39)	V838A	unknown	Het
Arrdc2	T	C	8: 71,289,764 (GRCm39)	Y280C	probably damaging	Het
Atg10	T	C	13: 91,302,380 (GRCm39)	T53A	probably benign	Het
Ccdc136	T	C	6: 29,415,583 (GRCm39)	S699P	probably damaging	Het
Cdc23	C	A	18: 34,769,379 (GRCm39)	V462L	possibly damaging	Het
Clcn6	C	T	4: 148,099,051 (GRCm39)	A431T	probably benign	Het
Cntn6	T	G	6: 104,809,541 (GRCm39)	H525Q	possibly damaging	Het
Ctr9	T	C	7: 110,642,060 (GRCm39)	F296S	possibly damaging	Het
Ctsq	T	A	13: 61,183,986 (GRCm39)		probably null	Het
Ehd1	A	G	19: 6,348,330 (GRCm39)	D436G		Het
Epha6	A	T	16: 60,245,267 (GRCm39)	F311I	probably damaging	Het
Esrrg	A	T	1: 187,798,582 (GRCm39)	T150S	possibly damaging	Het
Exoc2	C	A	13: 31,040,744 (GRCm39)	R758L	possibly damaging	Het
Exosc7	G	C	9: 122,961,058 (GRCm39)	V242L	probably benign	Het
Fcho2	T	C	13: 98,921,315 (GRCm39)	D190G	possibly damaging	Het
Fgd6	T	C	10: 93,880,894 (GRCm39)	S583P	probably damaging	Het
Frmd4a	A	G	2: 4,477,999 (GRCm39)	Y60C	probably damaging	Het
Gldc	A	T	19: 30,091,150 (GRCm39)	I815N	probably damaging	Het
Grm2	A	T	9: 106,528,113 (GRCm39)	L257Q	probably damaging	Het
Hectd3	C	A	4: 116,854,217 (GRCm39)	T289K	possibly damaging	Het
Itgb4	T	C	11: 115,871,817 (GRCm39)	V207A	probably damaging	Het
Lamb3	A	G	1: 193,013,104 (GRCm39)	E443G	probably damaging	Het
Meis2	T	A	2: 115,830,745 (GRCm39)	D256V	probably damaging	Het
Muc4	A	G	16: 32,754,686 (GRCm38)	N1520S	probably benign	Het
Nckap1l	A	G	15: 103,387,281 (GRCm39)	R719G	probably null	Het
Or6c210	A	T	10: 129,496,094 (GRCm39)	R140*	probably null	Het
Pabpc6	A	T	17: 9,886,742 (GRCm39)	M603K	probably damaging	Het
Pcnx2	C	A	8: 126,486,012 (GRCm39)	R1862L	probably benign	Het
Pgap6	T	A	17: 26,337,381 (GRCm39)	I399N	possibly damaging	Het
Pon2	T	C	6: 5,273,003 (GRCm39)	D122G	probably benign	Het
Ppig	T	A	2: 69,579,425 (GRCm39)	W378R	unknown	Het
Ralgapa1	T	A	12: 55,817,488 (GRCm39)	E389D	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rarg	A	G	15: 102,148,376 (GRCm39)	F233L	probably damaging	Het
Rasgrp2	T	C	19: 6,453,490 (GRCm39)	F90L	possibly damaging	Het
Rrp12	T	A	19: 41,851,680 (GRCm39)	H1285L	probably benign	Het
Slc16a13	C	A	11: 70,109,908 (GRCm39)	A198S	probably benign	Het
Spag9	A	G	11: 93,988,059 (GRCm39)	D441G	probably damaging	Het
Stxbp5l	A	G	16: 36,936,414 (GRCm39)	F1099S	probably damaging	Het
Tex19.1	T	A	11: 121,038,079 (GRCm39)	W146R	probably damaging	Het
Tmod3	T	C	9: 75,418,445 (GRCm39)	D197G	probably benign	Het
Tpp2	A	G	1: 44,014,593 (GRCm39)	H644R	probably benign	Het
Trpm2	A	G	10: 77,778,910 (GRCm39)	V352A	possibly damaging	Het
Tulp1	T	C	17: 28,581,675 (GRCm39)	K233E	probably damaging	Het
Vsir	A	G	10: 60,193,737 (GRCm39)	T67A	possibly damaging	Het
Wdr49	T	C	3: 75,304,248 (GRCm39)	N487S	probably benign	Het
Zbtb20	A	G	16: 43,429,786 (GRCm39)	N99S	probably damaging	Het
Zfp583	C	T	7: 6,320,008 (GRCm39)	G335S	probably benign	Het
Zgrf1	T	A	3: 127,354,675 (GRCm39)	V98E	possibly damaging	Het

Other mutations in Adam1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:Adam1a	APN	5	121,657,439 (GRCm39)	missense	probably benign	0.09
IGL01467:Adam1a	APN	5	121,657,791 (GRCm39)	missense	probably damaging	1.00
IGL02158:Adam1a	APN	5	121,657,034 (GRCm39)	nonsense	probably null
R1468:Adam1a	UTSW	5	121,657,839 (GRCm39)	splice site	probably null
R1468:Adam1a	UTSW	5	121,657,839 (GRCm39)	splice site	probably null
R1848:Adam1a	UTSW	5	121,657,683 (GRCm39)	missense	probably damaging	1.00
R1925:Adam1a	UTSW	5	121,657,513 (GRCm39)	nonsense	probably null
R2176:Adam1a	UTSW	5	121,657,649 (GRCm39)	missense	probably benign	0.01
R2232:Adam1a	UTSW	5	121,657,795 (GRCm39)	missense	possibly damaging	0.93
R3692:Adam1a	UTSW	5	121,657,385 (GRCm39)	missense	probably damaging	1.00
R4732:Adam1a	UTSW	5	121,657,497 (GRCm39)	missense	probably benign	0.34
R4733:Adam1a	UTSW	5	121,657,497 (GRCm39)	missense	probably benign	0.34
R4835:Adam1a	UTSW	5	121,657,752 (GRCm39)	missense	probably damaging	1.00
R5199:Adam1a	UTSW	5	121,659,215 (GRCm39)	missense	probably benign	0.23
R6026:Adam1a	UTSW	5	121,657,425 (GRCm39)	missense	probably damaging	1.00
R6936:Adam1a	UTSW	5	121,657,425 (GRCm39)	missense	probably damaging	1.00
R7016:Adam1a	UTSW	5	121,659,101 (GRCm39)	missense	probably benign	0.01
R7124:Adam1a	UTSW	5	121,657,397 (GRCm39)	missense	probably benign	0.15
R7294:Adam1a	UTSW	5	121,658,068 (GRCm39)	nonsense	probably null
R7501:Adam1a	UTSW	5	121,657,011 (GRCm39)	missense	possibly damaging	0.85
R7641:Adam1a	UTSW	5	121,657,370 (GRCm39)	missense	probably benign	0.00
R8548:Adam1a	UTSW	5	121,658,165 (GRCm39)	missense	probably damaging	1.00
R8917:Adam1a	UTSW	5	121,657,145 (GRCm39)	missense	probably benign	0.43
R9151:Adam1a	UTSW	5	121,657,411 (GRCm39)	missense	probably damaging	0.97
R9400:Adam1a	UTSW	5	121,657,893 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- ACCAGTCCTCTCCATAAGGAACCTG -3'
(R):5'- AGTGAGGGACTCTGCTGCTACAAC -3'

Sequencing Primer
(F):5'- ctaacatctgtacacaccagtttc -3'
(R):5'- CTGCTGCTACAACTGTACATTCAAG -3'

Posted On

2014-04-24