Mutagenetix > Incidental Mutation

Incidental Mutation 'R8196:Adam6b'

635461

Institutional Source

Beutler Lab

Gene Symbol

Adam6b

Ensembl Gene

ENSMUSG00000051804

Gene Name

a disintegrin and metallopeptidase domain 6B

Synonyms

4930523C11Rik

MMRRC Submission

067619-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113453185-113455455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113454087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 301 (D301E)

Ref Sequence

ENSEMBL: ENSMUSP00000065529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063317]

AlphaFold

Q6IMH7

Predicted Effect

probably benign
Transcript: ENSMUST00000063317
AA Change: D301E

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: D301E

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	30	167	1.1e-16	PFAM
Pfam:Reprolysin	223	407	1.1e-14	PFAM
DISIN	427	502	9.2e-33	SMART
ACR	503	640	2.74e-60	SMART
transmembrane domain	704	726	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	T	A	19: 21,656,024 (GRCm39)	V102D	probably damaging	Het
Adnp	A	C	2: 168,025,092 (GRCm39)	D734E	probably benign	Het
Ank2	T	A	3: 126,723,532 (GRCm39)	T932S	probably damaging	Het
Arhgap20	C	A	9: 51,760,277 (GRCm39)	D709E	possibly damaging	Het
Atoh1	A	G	6: 64,707,226 (GRCm39)	D307G	probably benign	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
B3galt1	A	G	2: 67,948,530 (GRCm39)	I82V	probably benign	Het
Chd2	T	C	7: 73,118,285 (GRCm39)	D1111G	probably benign	Het
Csmd1	T	C	8: 16,059,468 (GRCm39)	D2089G	probably benign	Het
Dach1	T	A	14: 98,256,370 (GRCm39)	H296L	probably damaging	Het
Dennd4b	T	G	3: 90,178,904 (GRCm39)	L556R	probably damaging	Het
Dop1a	T	A	9: 86,405,151 (GRCm39)	S326T	probably benign	Het
Eif2b5	T	A	16: 20,321,306 (GRCm39)	H286Q	probably damaging	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Fn3k	T	A	11: 121,341,222 (GRCm39)	F292L	probably damaging	Het
Gm1123	G	A	9: 98,905,309 (GRCm39)	A67V	probably benign	Het
Hey2	C	T	10: 30,710,273 (GRCm39)	C160Y	probably benign	Het
Jph2	T	A	2: 163,180,621 (GRCm39)		probably null	Het
Lars1	A	G	18: 42,343,166 (GRCm39)	S1084P	possibly damaging	Het
Macf1	T	C	4: 123,276,497 (GRCm39)	D6084G	probably damaging	Het
Mdfic	G	T	6: 15,740,989 (GRCm39)	A115S	probably benign	Het
Mki67	T	C	7: 135,297,237 (GRCm39)	E2599G	probably damaging	Het
Mtus1	A	G	8: 41,509,689 (GRCm39)	S131P	probably benign	Het
Muc16	G	T	9: 18,556,630 (GRCm39)	T3221K	unknown	Het
Or1q1	T	A	2: 36,886,873 (GRCm39)	I17N	possibly damaging	Het
Or8b3	A	G	9: 38,314,904 (GRCm39)	S245G	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pdgfc	A	G	3: 80,944,811 (GRCm39)	E23G	possibly damaging	Het
Pfkp	T	C	13: 6,655,698 (GRCm39)	T312A	probably benign	Het
Pxn	A	G	5: 115,683,768 (GRCm39)	E200G	probably damaging	Het
Rai1	C	T	11: 60,076,796 (GRCm39)	H287Y	probably damaging	Het
Rap1gap	G	A	4: 137,445,275 (GRCm39)	V319I	probably benign	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Selp	A	T	1: 163,961,490 (GRCm39)	D401V	possibly damaging	Het
Sh3bp5	A	G	14: 31,139,399 (GRCm39)	V58A	probably benign	Het
Shpk	A	T	11: 73,094,775 (GRCm39)	I64F	probably benign	Het
Slmap	A	G	14: 26,189,646 (GRCm39)	Y171H	probably damaging	Het
Tmem67	T	C	4: 12,075,661 (GRCm39)	T183A	probably benign	Het
Tyw1	G	T	5: 130,328,862 (GRCm39)	L549F	probably damaging	Het
Uhrf2	T	A	19: 30,051,329 (GRCm39)	M301K	probably benign	Het
Uvssa	G	A	5: 33,568,311 (GRCm39)	V532I	probably benign	Het
Vmn2r113	A	T	17: 23,176,938 (GRCm39)	K574I	probably damaging	Het
Zfp52	A	G	17: 21,782,156 (GRCm39)	N668S	possibly damaging	Het

Other mutations in Adam6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Adam6b	APN	12	113,455,013 (GRCm39)	missense	probably damaging	1.00
IGL00800:Adam6b	APN	12	113,454,062 (GRCm39)	missense	probably benign	0.24
IGL01456:Adam6b	APN	12	113,455,083 (GRCm39)	missense	probably benign	0.30
IGL02232:Adam6b	APN	12	113,454,764 (GRCm39)	missense	probably benign	0.06
IGL03039:Adam6b	APN	12	113,454,502 (GRCm39)	missense	probably damaging	1.00
IGL03399:Adam6b	APN	12	113,454,728 (GRCm39)	missense	probably damaging	0.97
IGL03412:Adam6b	APN	12	113,455,390 (GRCm39)	nonsense	probably null
R0234:Adam6b	UTSW	12	113,454,230 (GRCm39)	missense	probably damaging	0.98
R0234:Adam6b	UTSW	12	113,454,230 (GRCm39)	missense	probably damaging	0.98
R0373:Adam6b	UTSW	12	113,454,275 (GRCm39)	missense	probably benign	0.15
R0402:Adam6b	UTSW	12	113,453,615 (GRCm39)	missense	probably damaging	0.96
R0420:Adam6b	UTSW	12	113,453,614 (GRCm39)	missense	probably benign	0.02
R0573:Adam6b	UTSW	12	113,455,278 (GRCm39)	missense	possibly damaging	0.90
R0884:Adam6b	UTSW	12	113,454,615 (GRCm39)	missense	probably damaging	1.00
R1489:Adam6b	UTSW	12	113,455,071 (GRCm39)	missense	probably benign	0.15
R1542:Adam6b	UTSW	12	113,454,559 (GRCm39)	missense	possibly damaging	0.53
R1591:Adam6b	UTSW	12	113,453,452 (GRCm39)	missense	probably benign	0.07
R1596:Adam6b	UTSW	12	113,454,646 (GRCm39)	missense	probably damaging	1.00
R1675:Adam6b	UTSW	12	113,454,664 (GRCm39)	missense	probably benign	0.00
R1699:Adam6b	UTSW	12	113,454,205 (GRCm39)	missense	probably benign	0.02
R1818:Adam6b	UTSW	12	113,454,876 (GRCm39)	missense	probably benign	0.15
R1829:Adam6b	UTSW	12	113,453,545 (GRCm39)	missense	probably damaging	1.00
R1851:Adam6b	UTSW	12	113,455,442 (GRCm39)	missense	probably benign	0.44
R1955:Adam6b	UTSW	12	113,455,436 (GRCm39)	missense	probably benign	0.16
R2040:Adam6b	UTSW	12	113,454,364 (GRCm39)	missense	probably benign	0.34
R3820:Adam6b	UTSW	12	113,453,984 (GRCm39)	missense	probably benign	0.38
R4112:Adam6b	UTSW	12	113,453,256 (GRCm39)	missense	possibly damaging	0.85
R4434:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4435:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4437:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4438:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4509:Adam6b	UTSW	12	113,453,972 (GRCm39)	missense	probably benign	0.02
R5034:Adam6b	UTSW	12	113,454,547 (GRCm39)	missense	probably damaging	1.00
R5316:Adam6b	UTSW	12	113,455,013 (GRCm39)	missense	probably damaging	1.00
R5330:Adam6b	UTSW	12	113,454,200 (GRCm39)	missense	possibly damaging	0.45
R5331:Adam6b	UTSW	12	113,454,200 (GRCm39)	missense	possibly damaging	0.45
R5604:Adam6b	UTSW	12	113,454,420 (GRCm39)	nonsense	probably null
R5698:Adam6b	UTSW	12	113,455,083 (GRCm39)	missense	probably benign	0.30
R5877:Adam6b	UTSW	12	113,453,822 (GRCm39)	missense	probably damaging	1.00
R6235:Adam6b	UTSW	12	113,455,330 (GRCm39)	missense	probably benign
R6254:Adam6b	UTSW	12	113,453,190 (GRCm39)	missense	probably damaging	0.99
R6371:Adam6b	UTSW	12	113,453,894 (GRCm39)	missense	probably damaging	0.99
R6617:Adam6b	UTSW	12	113,454,152 (GRCm39)	missense	possibly damaging	0.78
R6768:Adam6b	UTSW	12	113,453,863 (GRCm39)	missense	probably benign	0.01
R7002:Adam6b	UTSW	12	113,453,327 (GRCm39)	nonsense	probably null
R7003:Adam6b	UTSW	12	113,453,662 (GRCm39)	nonsense	probably null
R7049:Adam6b	UTSW	12	113,454,122 (GRCm39)	missense	probably damaging	0.99
R7313:Adam6b	UTSW	12	113,454,754 (GRCm39)	missense	probably benign	0.00
R7372:Adam6b	UTSW	12	113,453,784 (GRCm39)	missense	probably benign	0.24
R7684:Adam6b	UTSW	12	113,455,196 (GRCm39)	nonsense	probably null
R7777:Adam6b	UTSW	12	113,453,758 (GRCm39)	missense	possibly damaging	0.93
R7781:Adam6b	UTSW	12	113,454,962 (GRCm39)	missense	probably damaging	1.00
R7857:Adam6b	UTSW	12	113,454,104 (GRCm39)	missense	probably benign	0.09
R8423:Adam6b	UTSW	12	113,454,530 (GRCm39)	missense	possibly damaging	0.77
R8680:Adam6b	UTSW	12	113,454,371 (GRCm39)	missense	probably benign	0.05
R8762:Adam6b	UTSW	12	113,453,227 (GRCm39)	missense	probably damaging	0.98
R8792:Adam6b	UTSW	12	113,455,310 (GRCm39)	missense	possibly damaging	0.75
R8806:Adam6b	UTSW	12	113,455,418 (GRCm39)	missense	possibly damaging	0.90
R8880:Adam6b	UTSW	12	113,454,764 (GRCm39)	missense	probably benign
R8977:Adam6b	UTSW	12	113,453,996 (GRCm39)	missense	probably benign	0.02
R8987:Adam6b	UTSW	12	113,454,748 (GRCm39)	missense	probably damaging	1.00
R9101:Adam6b	UTSW	12	113,455,376 (GRCm39)	missense	probably benign	0.22
R9103:Adam6b	UTSW	12	113,454,558 (GRCm39)	nonsense	probably null
R9334:Adam6b	UTSW	12	113,454,768 (GRCm39)	missense	probably damaging	1.00
R9641:Adam6b	UTSW	12	113,454,176 (GRCm39)	missense	probably benign
R9683:Adam6b	UTSW	12	113,454,176 (GRCm39)	missense	probably benign
R9796:Adam6b	UTSW	12	113,454,272 (GRCm39)	missense	probably damaging	1.00
RF012:Adam6b	UTSW	12	113,453,552 (GRCm39)	missense	probably damaging	1.00
RF022:Adam6b	UTSW	12	113,455,289 (GRCm39)	missense	possibly damaging	0.90
T0722:Adam6b	UTSW	12	113,454,888 (GRCm39)	missense	probably benign	0.11
T0722:Adam6b	UTSW	12	113,453,197 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGACAAACTTTCATCTACTGTTGGG -3'
(R):5'- AGGTGTTCCTTCTCTGGCAG -3'

Sequencing Primer
(F):5'- AACTTTCATCTACTGTTGGGTATTTG -3'
(R):5'- TTCTCTGGCAGACACAGTACC -3'

Posted On

2020-07-13