Mutagenetix > Incidental Mutation

Incidental Mutation 'R6936:Adam1a'

540292

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

045050-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6936 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121656667-121659758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121657425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 623 (C623R)

Ref Sequence

ENSEMBL: ENSMUSP00000098320 (fasta)

Gene Model

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

AlphaFold

Q60813

Predicted Effect

probably damaging
Transcript: ENSMUST00000100757
AA Change: C623R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: C623R

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.7%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,568 (GRCm39)	I2772F	probably damaging	Het
Ak2	T	C	4: 128,893,005 (GRCm39)	S55P	probably damaging	Het
Ak4	C	T	4: 101,304,456 (GRCm39)	A82V	probably benign	Het
Arhgap10	A	T	8: 78,037,376 (GRCm39)	C617*	probably null	Het
Art1	A	T	7: 101,755,977 (GRCm39)	D56V	possibly damaging	Het
Ascc3	A	G	10: 50,606,057 (GRCm39)	D1392G	probably damaging	Het
Bbs5	T	C	2: 69,484,698 (GRCm39)	S123P	probably damaging	Het
Cabin1	A	T	10: 75,551,592 (GRCm39)		probably null	Het
Carmil3	G	A	14: 55,739,018 (GRCm39)	E891K	probably benign	Het
Cbfa2t3	C	G	8: 123,374,478 (GRCm39)	R89P	probably damaging	Het
Ccdc157	A	G	11: 4,094,030 (GRCm39)	S534P	probably benign	Het
Cep72	A	T	13: 74,188,206 (GRCm39)	I229N	probably damaging	Het
Cnn3	C	T	3: 121,243,702 (GRCm39)		probably benign	Het
Cyp2c70	A	G	19: 40,156,007 (GRCm39)	V181A	probably damaging	Het
Cyp2d26	C	T	15: 82,676,741 (GRCm39)	D202N	probably benign	Het
Dbh	A	G	2: 27,062,809 (GRCm39)	K343E	probably benign	Het
Dlx5	A	G	6: 6,879,585 (GRCm39)	Y161H	probably damaging	Het
Dnah5	A	T	15: 28,409,414 (GRCm39)	I3611F	probably damaging	Het
Egf	A	C	3: 129,474,853 (GRCm39)	F563V	possibly damaging	Het
Enpp1	T	C	10: 24,527,237 (GRCm39)	H650R	probably benign	Het
Exoc6	A	G	19: 37,560,311 (GRCm39)	I109M	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgg	C	T	3: 82,915,727 (GRCm39)	S56F	possibly damaging	Het
Fras1	A	G	5: 96,916,211 (GRCm39)	D3415G	possibly damaging	Het
Ghsr	A	G	3: 27,426,474 (GRCm39)	I177V	probably benign	Het
Gm1979	A	T	5: 26,207,028 (GRCm39)	H62Q	probably benign	Het
Gpatch2	A	G	1: 186,965,433 (GRCm39)	D313G	probably benign	Het
Gtf2i	C	T	5: 134,271,639 (GRCm39)	E823K	probably damaging	Het
Hook2	C	A	8: 85,729,627 (GRCm39)	T689N	probably benign	Het
Hrnr	A	T	3: 93,239,667 (GRCm39)	N3302Y	unknown	Het
Igkv7-33	G	A	6: 70,035,785 (GRCm39)	P66S	possibly damaging	Het
Kcnh2	T	A	5: 24,529,337 (GRCm39)	I800F	probably damaging	Het
Mcmbp	G	A	7: 128,326,920 (GRCm39)	Q21*	probably null	Het
Mmp21	T	C	7: 133,280,704 (GRCm39)	K89E	probably benign	Het
Or4b13	A	G	2: 90,082,678 (GRCm39)	V218A	probably benign	Het
Or52r1c	A	T	7: 102,735,021 (GRCm39)	I94F	probably damaging	Het
Pcdhga4	A	G	18: 37,820,458 (GRCm39)	D669G	possibly damaging	Het
Ralgapa1	T	C	12: 55,832,997 (GRCm39)	T169A	probably damaging	Het
Sec31a	T	C	5: 100,540,369 (GRCm39)	N35S	probably benign	Het
Serpinb5	A	T	1: 106,798,148 (GRCm39)	T46S	probably benign	Het
Svs5	A	G	2: 164,079,548 (GRCm39)	S120P	possibly damaging	Het
Tbpl2	T	C	2: 23,984,953 (GRCm39)	T64A	probably benign	Het
Tecpr2	T	A	12: 110,911,297 (GRCm39)	H1111Q	possibly damaging	Het
Tm9sf3	A	G	19: 41,211,638 (GRCm39)	F402L	probably benign	Het
Tmem120b	T	G	5: 123,254,287 (GRCm39)	V287G	possibly damaging	Het
Tmem150c	T	C	5: 100,231,577 (GRCm39)	T133A	possibly damaging	Het
Ubqln3	A	T	7: 103,791,517 (GRCm39)	V191D	probably damaging	Het
Ubr2	T	C	17: 47,283,957 (GRCm39)	E564G	possibly damaging	Het
Zkscan1	T	C	5: 138,091,567 (GRCm39)	V100A	probably 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
R1593:Adam1a	UTSW	5	121,657,706 (GRCm39)	missense	probably benign	0.02
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
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'- ATCGCAGTGACAGTGCTTG -3'
(R):5'- CCCCTGAGGAATGTTACATTTCAG -3'

Sequencing Primer
(F):5'- CAGTGCTTGAAATTGTTGCACACTC -3'
(R):5'- GTTAATACTAAGGCGAACCGGTTTG -3'

Posted On

2018-11-06