Mutagenetix > Incidental Mutations

Incidental Mutation 'R7393:Adam26a'

573601

Institutional Source

Beutler Lab

Gene Symbol

Adam26a

Ensembl Gene

ENSMUSG00000048516

Gene Name

a disintegrin and metallopeptidase domain 26A (testase 3)

Synonyms

Dtgn4, Adam26

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43568278-43576707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43569688 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 255 (N255S)

Ref Sequence

ENSEMBL: ENSMUSP00000058256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049577]

Predicted Effect

probably benign
Transcript: ENSMUST00000049577
AA Change: N255S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: N255S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	29	147	2.1e-18	PFAM
Pfam:Reprolysin_5	193	364	4.8e-15	PFAM
Pfam:Reprolysin_4	194	380	2.2e-9	PFAM
Pfam:Reprolysin	195	385	2.7e-48	PFAM
Pfam:Reprolysin_2	215	377	2.4e-16	PFAM
Pfam:Reprolysin_3	219	340	1.2e-15	PFAM
DISIN	401	476	2.98e-41	SMART
ACR	477	613	2.06e-64	SMART
transmembrane domain	671	693	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is expressed in a regulated fashion during the late stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. This gene is located adjacent to two other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010107E04Rik	A	G	12: 111,963,277	V26A	probably benign	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Abi2	T	C	1: 60,434,382	M86T	possibly damaging	Het
Adam4	G	A	12: 81,419,660	S729L	probably benign	Het
Adcy1	G	T	11: 7,137,381	W418C	probably damaging	Het
Add2	T	A	6: 86,098,647	Y259*	probably null	Het
Agl	A	T	3: 116,791,156	C172S	probably benign	Het
Ankfy1	A	G	11: 72,738,308	T319A	possibly damaging	Het
Armc8	A	T	9: 99,483,999	C621S	possibly damaging	Het
Bbc3	A	G	7: 16,313,789	D146G	probably benign	Het
Btnl10	T	C	11: 58,923,706	L404P	probably damaging	Het
Cbl	A	G	9: 44,154,188		probably null	Het
Ccdc170	T	A	10: 4,514,314		probably null	Het
Ccdc91	T	A	6: 147,534,029	V37E	possibly damaging	Het
Ces1e	G	T	8: 93,210,417	T343K	probably benign	Het
Chfr	T	A	5: 110,152,358	F323I	probably damaging	Het
Clcnkb	T	A	4: 141,409,445	M370L	probably benign	Het
Col11a1	A	G	3: 114,097,106	D364G	unknown	Het
Ctbp2	A	G	7: 132,988,292	I381T	probably benign	Het
Cyp4a29	A	C	4: 115,242,196	Y38S	probably damaging	Het
Ddx1	T	C	12: 13,230,353	D382G	probably benign	Het
Dhx57	T	A	17: 80,255,571	N876Y	probably damaging	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fam234a	T	C	17: 26,216,624	D262G	probably benign	Het
Fnbp4	C	A	2: 90,779,316	Q1035K	probably damaging	Het
Gbp11	T	A	5: 105,327,577	N302Y	possibly damaging	Het
Gm11554	T	A	11: 99,803,872	T172S	unknown	Het
Hamp2	A	T	7: 30,922,605	M53K	possibly damaging	Het
Kcnj1	A	G	9: 32,397,018	D246G	probably damaging	Het
Kctd20	T	C	17: 28,963,338	F209L	probably damaging	Het
Klra2	T	C	6: 131,230,202	Y148C	probably damaging	Het
Krtap15	T	C	16: 88,829,097		probably null	Het
Mrps23	T	C	11: 88,204,458	L6P	probably damaging	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo7a	G	A	7: 98,063,699	R1690C	possibly damaging	Het
Nbas	T	C	12: 13,393,492	S1183P	probably damaging	Het
Ndufaf4	T	A	4: 24,903,177	M122K	probably benign	Het
Nop2	C	A	6: 125,133,546	S45*	probably null	Het
Nop56	T	A	2: 130,274,638	L3Q	probably benign	Het
Nrp2	T	C	1: 62,745,424	I244T	probably damaging	Het
Olfr1426	T	A	19: 12,088,628	T55S	probably benign	Het
Olfr620	A	G	7: 103,611,991	S121P	possibly damaging	Het
Otof	T	C	5: 30,370,270	D1941G	probably benign	Het
Pcyox1l	T	C	18: 61,697,641	K387E	probably benign	Het
Plcg2	A	G	8: 117,579,825	Y306C	possibly damaging	Het
Ppp1r13b	G	A	12: 111,838,754	P333S	probably damaging	Het
Rcc2	A	G	4: 140,717,030	D344G	probably damaging	Het
Reln	A	T	5: 21,976,351	N1810K	probably damaging	Het
Rfesd	G	T	13: 76,003,030	A90E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,917		probably benign	Het
Scg2	T	C	1: 79,435,231	K552E	probably damaging	Het
Sdccag8	A	G	1: 176,840,306	I190V	probably benign	Het
Sele	C	A	1: 164,053,923	T533K	probably benign	Het
Sh3bp4	T	A	1: 89,144,448	H339Q	possibly damaging	Het
Slc6a19	A	G	13: 73,692,974	S106P	probably benign	Het
Spidr	C	T	16: 16,146,831		probably benign	Het
Stk36	A	T	1: 74,611,193	K295*	probably null	Het
Synj1	A	T	16: 90,951,999	D1056E	probably damaging	Het
Tnks1bp1	T	C	2: 85,062,866	S1046P	probably benign	Het
Ttc27	T	G	17: 74,770,264	F385V	possibly damaging	Het
Ttn	C	A	2: 76,944,345	G2164W	unknown	Het
Ubap1	T	A	4: 41,379,764	L326*	probably null	Het
Ubr4	A	G	4: 139,426,785	N812S	probably damaging	Het
Vmn1r160	A	G	7: 22,871,353	T44A	possibly damaging	Het
Vmn1r28	G	A	6: 58,265,589	S139N	possibly damaging	Het
Vmn2r116	A	G	17: 23,386,125	I137M	probably benign	Het
Vmn2r67	A	T	7: 85,155,878	W9R	probably null	Het
Zfp101	T	C	17: 33,386,700	N45D	possibly damaging	Het

Other mutations in Adam26a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Adam26a	APN	8	43568859	missense	possibly damaging	0.75
IGL00519:Adam26a	APN	8	43569525	missense	probably damaging	1.00
IGL00658:Adam26a	APN	8	43568903	missense	probably benign	0.00
IGL01514:Adam26a	APN	8	43568448	missense	probably benign
IGL01988:Adam26a	APN	8	43569170	missense	possibly damaging	0.68
IGL02030:Adam26a	APN	8	43568857	missense	probably benign	0.00
IGL02081:Adam26a	APN	8	43570196	missense	probably damaging	0.99
IGL02444:Adam26a	APN	8	43569673	missense	possibly damaging	0.46
IGL02734:Adam26a	APN	8	43569775	missense	probably benign	0.27
IGL03243:Adam26a	APN	8	43568696	missense	probably benign	0.14
IGL03350:Adam26a	APN	8	43569552	nonsense	probably null
R0206:Adam26a	UTSW	8	43570418	missense	possibly damaging	0.81
R0206:Adam26a	UTSW	8	43570418	missense	possibly damaging	0.81
R0324:Adam26a	UTSW	8	43568453	missense	probably benign
R0830:Adam26a	UTSW	8	43568402	missense	probably benign	0.23
R0960:Adam26a	UTSW	8	43568763	missense	probably damaging	1.00
R1259:Adam26a	UTSW	8	43568647	missense	probably benign	0.20
R1259:Adam26a	UTSW	8	43568713	missense	possibly damaging	0.95
R1403:Adam26a	UTSW	8	43569192	nonsense	probably null
R1403:Adam26a	UTSW	8	43569192	nonsense	probably null
R1719:Adam26a	UTSW	8	43570036	missense	possibly damaging	0.93
R1750:Adam26a	UTSW	8	43570189	missense	possibly damaging	0.90
R1860:Adam26a	UTSW	8	43569541	missense	possibly damaging	0.66
R1861:Adam26a	UTSW	8	43569541	missense	possibly damaging	0.66
R1875:Adam26a	UTSW	8	43569851	missense	probably benign	0.37
R3959:Adam26a	UTSW	8	43569871	missense	probably benign	0.00
R4355:Adam26a	UTSW	8	43570185	missense	probably benign	0.35
R4604:Adam26a	UTSW	8	43570051	missense	probably benign	0.02
R4612:Adam26a	UTSW	8	43568793	missense	probably damaging	0.99
R4909:Adam26a	UTSW	8	43570438	missense	probably benign	0.08
R4937:Adam26a	UTSW	8	43568881	missense	probably damaging	1.00
R5112:Adam26a	UTSW	8	43568856	missense	probably benign	0.04
R5276:Adam26a	UTSW	8	43570420	missense	probably benign	0.30
R5406:Adam26a	UTSW	8	43569104	missense	probably damaging	1.00
R5501:Adam26a	UTSW	8	43569904	nonsense	probably null
R5955:Adam26a	UTSW	8	43569852	missense	probably benign	0.11
R6262:Adam26a	UTSW	8	43569088	missense	possibly damaging	0.91
R6847:Adam26a	UTSW	8	43568428	missense	probably benign	0.23
R6957:Adam26a	UTSW	8	43568903	missense	probably benign	0.00
R7053:Adam26a	UTSW	8	43568799	nonsense	probably null
R7287:Adam26a	UTSW	8	43570343	missense	possibly damaging	0.95
R7477:Adam26a	UTSW	8	43569070	missense	probably damaging	1.00
R7552:Adam26a	UTSW	8	43569970	missense	possibly damaging	0.77
R7670:Adam26a	UTSW	8	43570153	missense	probably benign	0.13
R7918:Adam26a	UTSW	8	43569529	missense	probably damaging	0.98
R8193:Adam26a	UTSW	8	43569236	missense	probably damaging	1.00
R8262:Adam26a	UTSW	8	43569141	nonsense	probably null
R8987:Adam26a	UTSW	8	43569321	missense	probably benign	0.02
Z1088:Adam26a	UTSW	8	43569698	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAATGTGTGCCATGTCTGAC -3'
(R):5'- GGACCCACCACAGGTTTATTG -3'

Sequencing Primer
(F):5'- GTGTGCCATGTCTGACATTACATCAG -3'
(R):5'- CCACCACAGGTTTATTGAATATTTTG -3'

Posted On

2019-09-13