Mutagenetix > Incidental Mutation

Incidental Mutation 'R1925:Adam1a'

213340

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

039943-MU

Accession Numbers

Essential gene?

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

Stock #

R1925 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121656667-121659758 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 121657513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 593 (C593*)

Ref Sequence

ENSEMBL: ENSMUSP00000098320 (fasta)

Gene Model

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

AlphaFold

Q60813

Predicted Effect

probably null
Transcript: ENSMUST00000100757
AA Change: C593*

SMART Domains

Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: C593*

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

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

99% (79/80)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,617,333 (GRCm39)	H577R	probably damaging	Het
Acvr1	T	C	2: 58,337,661 (GRCm39)	M474V	probably damaging	Het
Agap2	A	G	10: 126,926,744 (GRCm39)	N927S	probably damaging	Het
Ahctf1	T	C	1: 179,598,218 (GRCm39)	H958R	probably damaging	Het
Apaf1	A	G	10: 90,835,581 (GRCm39)	V1088A	probably damaging	Het
Brpf1	G	T	6: 113,296,891 (GRCm39)	K958N	probably damaging	Het
Cadps	A	G	14: 12,705,726 (GRCm38)	I223T	probably damaging	Het
Catsperg2	T	C	7: 29,397,189 (GRCm39)	M1105V	probably benign	Het
Clasp2	T	A	9: 113,735,265 (GRCm39)	F1033L	possibly damaging	Het
Col4a3	T	A	1: 82,678,094 (GRCm39)	I1232N	unknown	Het
Col4a3	T	G	1: 82,689,595 (GRCm39)		probably benign	Het
Comtd1	T	G	14: 21,897,731 (GRCm39)	E134A	probably damaging	Het
Cyp2c55	A	T	19: 39,022,821 (GRCm39)	T320S	probably benign	Het
Dlx2	T	C	2: 71,376,522 (GRCm39)	N72S	probably benign	Het
Dnhd1	T	A	7: 105,301,459 (GRCm39)	V272E	probably damaging	Het
Dnhd1	T	A	7: 105,323,061 (GRCm39)	I523N	probably damaging	Het
Dpysl3	T	A	18: 43,465,996 (GRCm39)	I140F	probably damaging	Het
Elmod2	G	A	8: 84,048,093 (GRCm39)	A123V	probably benign	Het
Etv4	T	C	11: 101,662,507 (GRCm39)		probably benign	Het
F3	A	T	3: 121,523,032 (GRCm39)	T81S	probably damaging	Het
Faf2	C	T	13: 54,799,865 (GRCm39)	A224V	probably damaging	Het
Fbn1	A	T	2: 125,205,549 (GRCm39)	M1109K	probably damaging	Het
Fnbp4	A	G	2: 90,596,187 (GRCm39)	E586G	probably damaging	Het
Gm10428	G	T	11: 62,644,179 (GRCm39)		probably benign	Het
Gm5884	A	T	6: 128,622,050 (GRCm39)		noncoding transcript	Het
Gm6471	T	A	7: 142,385,319 (GRCm39)		noncoding transcript	Het
Gtse1	T	C	15: 85,757,939 (GRCm39)	V515A	probably benign	Het
H2-M2	T	C	17: 37,793,391 (GRCm39)	E205G	probably damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Il1r2	A	G	1: 40,154,308 (GRCm39)	Y225C	probably damaging	Het
Kcnq3	T	G	15: 65,876,658 (GRCm39)	D495A	possibly damaging	Het
Lrrc49	T	C	9: 60,556,773 (GRCm39)	N321D	probably benign	Het
Lztr1	G	T	16: 17,341,247 (GRCm39)	R291L	probably damaging	Het
Micu1	C	T	10: 59,568,983 (GRCm39)		probably benign	Het
Msh5	C	T	17: 35,248,928 (GRCm39)	V702I	probably benign	Het
Myh1	T	C	11: 67,101,996 (GRCm39)	I792T	probably benign	Het
Nav1	T	A	1: 135,534,967 (GRCm39)		probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or11i1	C	T	3: 106,729,688 (GRCm39)	M62I	probably damaging	Het
Or5ac22	A	G	16: 59,135,027 (GRCm39)	S248P	probably damaging	Het
Or8u9	T	C	2: 86,001,354 (GRCm39)	D269G	probably benign	Het
Otof	G	C	5: 30,551,532 (GRCm39)	N340K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Plek2	T	A	12: 78,941,664 (GRCm39)	Y155F	probably damaging	Het
Ppa1	T	A	10: 61,487,388 (GRCm39)	Y38*	probably null	Het
Pramel22	T	A	4: 143,381,025 (GRCm39)	T333S	probably damaging	Het
Prmt9	T	A	8: 78,303,968 (GRCm39)	C684S	possibly damaging	Het
Rasl10a	A	G	11: 5,009,473 (GRCm39)	D87G	possibly damaging	Het
Rtn4rl1	C	A	11: 75,156,864 (GRCm39)	P432Q	probably benign	Het
Scd4	T	G	19: 44,329,823 (GRCm39)	Y265D	probably damaging	Het
Scn5a	C	T	9: 119,358,085 (GRCm39)	A719T	probably benign	Het
Sdk1	T	A	5: 142,171,040 (GRCm39)	F1968I	probably benign	Het
Sh3bp5	T	C	14: 31,157,880 (GRCm39)	E12G	probably benign	Het
Slc6a12	T	A	6: 121,337,485 (GRCm39)	F390I	probably benign	Het
Snapin	A	T	3: 90,397,539 (GRCm39)	D77E	possibly damaging	Het
Sox2	G	T	3: 34,704,820 (GRCm39)	E86*	probably null	Het
Sparcl1	A	G	5: 104,241,220 (GRCm39)	L68P	probably benign	Het
Sptb	T	A	12: 76,669,027 (GRCm39)	E562V	probably damaging	Het
Taar3	A	T	10: 23,826,483 (GRCm39)	H343L	probably benign	Het
Tanc1	T	A	2: 59,555,095 (GRCm39)	V51E	possibly damaging	Het
Tbc1d22a	T	C	15: 86,123,350 (GRCm39)	S128P	probably damaging	Het
Thada	A	G	17: 84,751,927 (GRCm39)	S350P	probably benign	Het
Tmem161b	T	C	13: 84,408,348 (GRCm39)	V93A	probably benign	Het
Tnn	T	C	1: 159,924,799 (GRCm39)	Y1185C	probably damaging	Het
Trim43a	T	C	9: 88,464,371 (GRCm39)	V94A	probably benign	Het
Ttll12	C	T	15: 83,465,976 (GRCm39)	E407K	probably benign	Het
Ttn	T	C	2: 76,555,856 (GRCm39)	E30383G	probably damaging	Het
Vmn1r29	T	A	6: 58,285,087 (GRCm39)	M269K	possibly damaging	Het
Vmn2r117	A	G	17: 23,697,363 (GRCm39)	S110P	probably benign	Het
Vmn2r6	C	A	3: 64,463,698 (GRCm39)	V290L	possibly damaging	Het
Vmn2r8	A	T	5: 108,950,019 (GRCm39)	L276Q	probably damaging	Het
Zan	C	A	5: 137,423,904 (GRCm39)	C2665F	unknown	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp983	A	G	17: 21,880,933 (GRCm39)	H287R	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
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'- CTTTGTTTGGGGCACAGAAG -3'
(R):5'- AACAGCTACATGCAGGATGGC -3'

Sequencing Primer
(F):5'- AGAAGGTGCCGCTCTGTACATC -3'
(R):5'- CACAGTGTGATAGGATTTATTACTGC -3'

Posted On

2014-07-14