Mutagenetix > Incidental Mutation

Incidental Mutation 'R8552:Adam1b'

659899

Institutional Source

Beutler Lab

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 #

R8552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121638161-121641498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121639504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 514 (R514S)

Ref Sequence

ENSEMBL: ENSMUSP00000078343 (fasta)

Gene Model

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

AlphaFold

Q8R534

Predicted Effect

probably benign
Transcript: ENSMUST00000079368
AA Change: R514S

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

SMART Domains

Protein: ENSMUSP00000078343
Gene: ENSMUSG00000062438
AA Change: R514S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	A	G	6: 58,646,210 (GRCm39)	H242R	possibly damaging	Het
Adprs	A	G	4: 126,210,368 (GRCm39)	*371Q	probably null	Het
Arid4a	T	C	12: 71,106,849 (GRCm39)	L307P	probably benign	Het
Armc12	C	T	17: 28,757,675 (GRCm39)	A269V	probably benign	Het
Asb1	T	A	1: 91,480,078 (GRCm39)	V259E	probably damaging	Het
Atm	T	C	9: 53,435,797 (GRCm39)	Y171C	probably damaging	Het
Atp8a2	A	T	14: 60,011,431 (GRCm39)	F959L	probably benign	Het
B4galt3	G	T	1: 171,101,917 (GRCm39)	E34D	possibly damaging	Het
Cacna1i	A	G	15: 80,204,598 (GRCm39)	N90S	possibly damaging	Het
Cdc42ep2	T	A	19: 5,968,060 (GRCm39)	*215L	probably null	Het
Cep162	C	T	9: 87,126,361 (GRCm39)	E184K	probably benign	Het
Cnga3	C	T	1: 37,284,060 (GRCm39)	P121L	probably benign	Het
Cpt1b	G	A	15: 89,306,524 (GRCm39)	R285C	probably damaging	Het
Defb18	T	C	1: 18,306,791 (GRCm39)	Y55C	probably damaging	Het
Depdc1b	C	T	13: 108,493,959 (GRCm39)	P116S	probably damaging	Het
Dhx16	C	T	17: 36,192,183 (GRCm39)	A74V	possibly damaging	Het
Dnajc21	A	T	15: 10,464,005 (GRCm39)	Y53*	probably null	Het
Dse	T	C	10: 34,028,316 (GRCm39)	R925G	possibly damaging	Het
Dsp	C	T	13: 38,369,117 (GRCm39)	L738F	probably damaging	Het
Erv3	T	C	2: 131,698,261 (GRCm39)	K33E	possibly damaging	Het
Gas2l2	T	A	11: 83,312,907 (GRCm39)	T802S	probably benign	Het
Gdf9	T	C	11: 53,324,378 (GRCm39)	L49S	possibly damaging	Het
Gigyf1	G	T	5: 137,521,401 (GRCm39)		probably benign	Het
Gm4792	T	A	10: 94,131,061 (GRCm39)	I83L	unknown	Het
Ighv9-3	A	G	12: 114,104,349 (GRCm39)	L105P	probably damaging	Het
Krtap5-1	C	A	7: 141,850,160 (GRCm39)	W189L	probably null	Het
Krtap5-3	T	A	7: 141,756,089 (GRCm39)		probably benign	Het
Lrp1b	T	A	2: 41,298,993 (GRCm39)	E108D	probably benign	Het
Lrrc66	G	A	5: 73,768,228 (GRCm39)	P238S	probably benign	Het
Ms4a4c	C	T	19: 11,392,196 (GRCm39)	Q6*	probably null	Het
Or5b97	A	G	19: 12,879,096 (GRCm39)	L16P	probably damaging	Het
Or6d14	G	T	6: 116,534,289 (GRCm39)	R301L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pinx1	A	G	14: 64,156,972 (GRCm39)	R300G	probably benign	Het
Pkd1	T	A	17: 24,810,443 (GRCm39)	H92Q	probably damaging	Het
Rad54l2	T	A	9: 106,570,777 (GRCm39)	Q1181L	possibly damaging	Het
Rbl1	A	T	2: 157,038,174 (GRCm39)	V131E	probably damaging	Het
Rbp3	A	G	14: 33,677,621 (GRCm39)	E523G	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Slc22a20	C	A	19: 6,035,698 (GRCm39)	C130F	probably damaging	Het
Smcr8	T	C	11: 60,670,979 (GRCm39)	L709S	probably damaging	Het
Spef2	A	G	15: 9,600,765 (GRCm39)		probably benign	Het
Teddm1b	T	A	1: 153,750,194 (GRCm39)	M1K	probably null	Het
Tes	A	G	6: 17,097,327 (GRCm39)	Y60C	probably damaging	Het
Tmem104	T	C	11: 115,088,144 (GRCm39)	L43P	probably damaging	Het
Tnfaip3	T	C	10: 18,880,213 (GRCm39)	E618G	probably damaging	Het
Tnfaip3	T	C	10: 18,880,414 (GRCm39)	D551G	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,015,236 (GRCm39)	T51S	probably benign	Het
Trmt44	G	T	5: 35,722,744 (GRCm39)	H441Q	probably benign	Het
Tshr	C	A	12: 91,504,059 (GRCm39)	D332E	probably benign	Het
Usp10	C	T	8: 120,683,367 (GRCm39)	T746M	possibly damaging	Het
Vmn1r8	A	T	6: 57,013,138 (GRCm39)	D63V	possibly damaging	Het
Vps13a	A	C	19: 16,731,684 (GRCm39)	L143V	probably damaging	Het
Wnt3a	T	A	11: 59,166,043 (GRCm39)	H79L	probably damaging	Het
Zbtb7a	C	T	10: 80,980,141 (GRCm39)	R112W	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
IGL02479:Adam1b	APN	5	121,639,461 (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
R9027:Adam1b	UTSW	5	121,640,788 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGGAGCAGCAAGTTGTTC -3'
(R):5'- GTGCAGCACTGAACTTTGC -3'

Sequencing Primer
(F):5'- AGCAGCAAGTTGTTCGGTTG -3'
(R):5'- GCACTGAACTTTGCTGTTTTAAATG -3'

Posted On

2021-01-18