Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02479:Adam1b'

295129

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam1b

Ensembl Gene

ENSMUSG00000062438

Gene Name

a disintegrin and metallopeptidase domain 1b

Synonyms

PH-30 alpha, fertilin alpha, Ftna

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

121638161-121641498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121639461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 528 (Y528C)

Ref Sequence

ENSEMBL: ENSMUSP00000078343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079368] [ENSMUST00000111795] [ENSMUST00000156080]

AlphaFold

Q8R534

Predicted Effect

probably damaging
Transcript: ENSMUST00000079368
AA Change: Y528C

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

SMART Domains

Protein: ENSMUSP00000078343
Gene: ENSMUSG00000062438
AA Change: Y528C

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Pep_M12B_propep	38	159	1.6e-18	PFAM
Pfam:Reprolysin_5	201	378	2.9e-15	PFAM
Pfam:Reprolysin_4	202	386	6.8e-9	PFAM
Pfam:Reprolysin	203	397	2.4e-70	PFAM
Pfam:Reprolysin_3	223	349	3.9e-14	PFAM
Pfam:Reprolysin_2	223	387	5.8e-9	PFAM
DISIN	415	488	8.08e-29	SMART
ACR	489	628	3.41e-47	SMART
EGF	634	665	2.34e1	SMART
transmembrane domain	705	727	N/A	INTRINSIC
coiled coil region	763	801	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: 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

noncoding transcript
Transcript: ENSMUST00000196484

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, healthy and fertile with no significant defects in sperm function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	A	8: 41,132,571 (GRCm39)	I13N	probably benign	Het
Arsj	T	C	3: 126,232,588 (GRCm39)	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,683,373 (GRCm39)	T31I	possibly damaging	Het
Cask	A	T	X: 13,423,297 (GRCm39)	D502E	probably damaging	Het
Cenpl	T	A	1: 160,910,637 (GRCm39)	S195T	probably benign	Het
Clhc1	T	A	11: 29,528,107 (GRCm39)	I545N	probably damaging	Het
Clrn2	T	C	5: 45,621,254 (GRCm39)	I216T	probably benign	Het
Csf2rb	C	T	15: 78,225,924 (GRCm39)	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,727,477 (GRCm39)	D284G	probably benign	Het
Dgka	T	C	10: 128,566,115 (GRCm39)	E345G	probably benign	Het
Dync1i2	G	A	2: 71,066,323 (GRCm39)	V128I	probably damaging	Het
Eno3	T	A	11: 70,551,714 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,422,147 (GRCm39)	I347K	probably benign	Het
F8	A	T	X: 74,331,846 (GRCm39)	N681K	probably damaging	Het
Fancm	T	A	12: 65,153,259 (GRCm39)	D1238E	probably damaging	Het
Fcna	T	A	2: 25,515,272 (GRCm39)	Q237L	probably benign	Het
Fpr2	A	T	17: 18,113,074 (GRCm39)	R23S	probably benign	Het
Frmd3	A	G	4: 74,105,752 (GRCm39)	D466G	probably benign	Het
Gen1	C	A	12: 11,291,936 (GRCm39)	V618L	probably benign	Het
Gja4	T	C	4: 127,206,217 (GRCm39)	E182G	probably benign	Het
Gsdmc	T	A	15: 63,649,824 (GRCm39)	I356F	possibly damaging	Het
Kctd19	T	C	8: 106,111,400 (GRCm39)	D102G	probably damaging	Het
Lrit2	T	C	14: 36,794,235 (GRCm39)	L433P	probably damaging	Het
Lrp2	G	A	2: 69,295,145 (GRCm39)		probably benign	Het
Luc7l3	G	A	11: 94,187,735 (GRCm39)		probably benign	Het
Map3k5	T	A	10: 19,932,230 (GRCm39)	L458Q	probably damaging	Het
Mast4	A	G	13: 102,878,545 (GRCm39)	S1038P	probably damaging	Het
Med12	A	T	X: 100,340,598 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,555,041 (GRCm39)	L888M	probably damaging	Het
Nova1	A	T	12: 46,863,701 (GRCm39)	I83N	unknown	Het
Obscn	A	G	11: 58,947,053 (GRCm39)		probably benign	Het
Or11q2	T	C	X: 48,772,742 (GRCm39)	V121A	probably benign	Het
Or4d10c	T	A	19: 12,065,269 (GRCm39)	M296L	probably benign	Het
Or4f15	A	C	2: 111,813,730 (GRCm39)	S230A	probably benign	Het
Or6k2	C	A	1: 173,986,520 (GRCm39)	Y60*	probably null	Het
Pde2a	A	G	7: 101,150,290 (GRCm39)	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,288,215 (GRCm39)	K1062*	probably null	Het
Phc1	A	T	6: 122,300,676 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,863,730 (GRCm39)	S764T	probably benign	Het
Pmp2	T	G	3: 10,247,262 (GRCm39)	R89S	probably benign	Het
Prdm2	A	G	4: 142,861,499 (GRCm39)	L597P	probably damaging	Het
Rfx6	T	A	10: 51,554,424 (GRCm39)	D88E	probably benign	Het
Rgs9	T	C	11: 109,116,478 (GRCm39)	S442G	possibly damaging	Het
Ror2	C	T	13: 53,285,968 (GRCm39)	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,868,852 (GRCm39)	A986E	possibly damaging	Het
Slc5a5	T	A	8: 71,341,555 (GRCm39)	M325L	possibly damaging	Het
Slx9	T	C	10: 77,350,161 (GRCm39)	S76G	probably damaging	Het
Sppl2c	G	A	11: 104,077,763 (GRCm39)	V188I	probably benign	Het
Srrm3	G	T	5: 135,864,103 (GRCm39)	C67F	probably damaging	Het
Stk31	A	G	6: 49,398,622 (GRCm39)	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476 (GRCm39)	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Trav8d-1	T	C	14: 53,016,257 (GRCm39)	S48P	probably benign	Het
Vrk1	A	T	12: 106,017,261 (GRCm39)	Q95L	probably benign	Het
Wdr25	C	A	12: 108,864,527 (GRCm39)	T224K	probably benign	Het
Wdr37	A	T	13: 8,892,820 (GRCm39)	H224Q	probably damaging	Het
Zhx1	C	T	15: 57,917,767 (GRCm39)	E160K	probably damaging	Het

Other mutations in Adam1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Adam1b	APN	5	121,639,056 (GRCm39)	missense	probably damaging	0.96
IGL01696:Adam1b	APN	5	121,638,856 (GRCm39)	missense	possibly damaging	0.73
IGL01906:Adam1b	APN	5	121,639,538 (GRCm39)	missense	probably benign	0.00
IGL02003:Adam1b	APN	5	121,639,354 (GRCm39)	missense	probably damaging	1.00
IGL02438:Adam1b	APN	5	121,639,101 (GRCm39)	missense	probably damaging	1.00
IGL03258:Adam1b	APN	5	121,639,447 (GRCm39)	missense	possibly damaging	0.94
PIT4519001:Adam1b	UTSW	5	121,640,010 (GRCm39)	missense	probably damaging	1.00
R1695:Adam1b	UTSW	5	121,638,970 (GRCm39)	missense	probably benign	0.02
R1816:Adam1b	UTSW	5	121,639,788 (GRCm39)	missense	probably damaging	0.99
R1831:Adam1b	UTSW	5	121,641,000 (GRCm39)	missense	possibly damaging	0.67
R1833:Adam1b	UTSW	5	121,641,000 (GRCm39)	missense	possibly damaging	0.67
R1839:Adam1b	UTSW	5	121,639,104 (GRCm39)	missense	probably damaging	1.00
R2031:Adam1b	UTSW	5	121,639,118 (GRCm39)	missense	possibly damaging	0.73
R2110:Adam1b	UTSW	5	121,638,777 (GRCm39)	intron	probably benign
R2112:Adam1b	UTSW	5	121,638,777 (GRCm39)	intron	probably benign
R2570:Adam1b	UTSW	5	121,639,811 (GRCm39)	missense	probably damaging	1.00
R3020:Adam1b	UTSW	5	121,639,446 (GRCm39)	missense	possibly damaging	0.67
R4573:Adam1b	UTSW	5	121,638,856 (GRCm39)	missense	probably benign	0.18
R4574:Adam1b	UTSW	5	121,638,856 (GRCm39)	missense	probably benign	0.18
R5023:Adam1b	UTSW	5	121,639,222 (GRCm39)	missense	probably damaging	1.00
R5364:Adam1b	UTSW	5	121,638,946 (GRCm39)	missense	possibly damaging	0.75
R6553:Adam1b	UTSW	5	121,639,250 (GRCm39)	missense	probably benign	0.05
R6585:Adam1b	UTSW	5	121,639,250 (GRCm39)	missense	probably benign	0.05
R6600:Adam1b	UTSW	5	121,639,530 (GRCm39)	missense	probably damaging	1.00
R7285:Adam1b	UTSW	5	121,639,056 (GRCm39)	missense	probably damaging	0.96
R7549:Adam1b	UTSW	5	121,639,981 (GRCm39)	missense	probably damaging	1.00
R7843:Adam1b	UTSW	5	121,639,500 (GRCm39)	missense	probably damaging	0.99
R8024:Adam1b	UTSW	5	121,638,986 (GRCm39)	missense	probably benign	0.39
R8306:Adam1b	UTSW	5	121,641,212 (GRCm39)	intron	probably benign
R8409:Adam1b	UTSW	5	121,639,540 (GRCm39)	missense	probably benign	0.00
R8552:Adam1b	UTSW	5	121,639,504 (GRCm39)	missense	probably benign	0.02
R9027:Adam1b	UTSW	5	121,640,788 (GRCm39)	nonsense	probably null

Posted On

2015-04-16