Mutagenetix > Incidental Mutation

Incidental Mutation 'R4509:Adam6b'

331134

Institutional Source

Beutler Lab

Gene Symbol

Adam6b

Ensembl Gene

ENSMUSG00000051804

Gene Name

a disintegrin and metallopeptidase domain 6B

Synonyms

4930523C11Rik

MMRRC Submission

041758-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113453185-113455455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113453972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 263 (V263A)

Ref Sequence

ENSEMBL: ENSMUSP00000065529 (fasta)

Gene Model

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

AlphaFold

Q6IMH7

Predicted Effect

probably benign
Transcript: ENSMUST00000063317
AA Change: V263A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: V263A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,857,581 (GRCm39)	L657P	probably damaging	Het
Adam4	A	T	12: 81,468,521 (GRCm39)	C33*	probably null	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
Ascc3	T	C	10: 50,718,339 (GRCm39)	F2011L	probably benign	Het
Atp5pf	T	C	16: 84,624,862 (GRCm39)	D104G	probably benign	Het
Cacna1d	T	C	14: 29,818,928 (GRCm39)	Y1209C	probably damaging	Het
Camta2	G	A	11: 70,571,844 (GRCm39)	T484M	probably benign	Het
Ccdc178	T	C	18: 22,200,449 (GRCm39)	N452D	possibly damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cttnbp2nl	T	C	3: 104,940,063 (GRCm39)	N2S	probably damaging	Het
Gm15032	A	T	X: 141,405,622 (GRCm39)		noncoding transcript	Het
Gzmg	G	A	14: 56,394,210 (GRCm39)	P228L	probably damaging	Het
Hao1	T	A	2: 134,364,964 (GRCm39)	D221V	probably damaging	Het
Ints9	A	G	14: 65,266,381 (GRCm39)	D411G	possibly damaging	Het
Lnx1	C	T	5: 74,780,853 (GRCm39)	D382N	probably damaging	Het
Mdn1	C	T	4: 32,715,883 (GRCm39)	R2022C	probably damaging	Het
Mipep	T	C	14: 61,064,770 (GRCm39)	Y375H	probably damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Pah	T	C	10: 87,412,077 (GRCm39)		probably null	Het
Perm1	T	C	4: 156,302,043 (GRCm39)	S196P	probably benign	Het
Pik3c2g	A	T	6: 139,665,732 (GRCm39)	T18S	probably benign	Het
Polq	G	A	16: 36,868,925 (GRCm39)	R765H	probably damaging	Het
Ppp3cb	A	T	14: 20,565,569 (GRCm39)		probably benign	Het
Psd4	T	C	2: 24,286,347 (GRCm39)	S316P	probably benign	Het
Ptpn18	T	C	1: 34,501,823 (GRCm39)	V45A	possibly damaging	Het
Rasgrp3	A	G	17: 75,807,668 (GRCm39)	M242V	probably damaging	Het
Repin1	T	C	6: 48,573,460 (GRCm39)	C130R	possibly damaging	Het
Rrp1	G	T	10: 78,248,656 (GRCm39)	T44K	possibly damaging	Het
Slc44a5	A	G	3: 153,939,710 (GRCm39)	Y88C	probably damaging	Het
Socs1	C	T	16: 10,602,218 (GRCm39)	R173Q	probably benign	Het
Speer3	T	G	5: 13,846,368 (GRCm39)	N229K	possibly damaging	Het
Sult2a7	T	A	7: 14,204,086 (GRCm39)	I226F	probably damaging	Het
Tdp1	G	A	12: 99,921,324 (GRCm39)		probably benign	Het
Tnfrsf21	G	A	17: 43,396,279 (GRCm39)	S521N	probably benign	Het
Tnip1	T	A	11: 54,817,616 (GRCm39)	S244C	probably benign	Het
Ubqln3	G	A	7: 103,790,651 (GRCm39)	L480F	probably damaging	Het
Vps13d	G	A	4: 144,789,172 (GRCm39)	P3817L	probably damaging	Het
Xpr1	A	G	1: 155,165,907 (GRCm39)		probably benign	Het
Zfhx3	A	G	8: 109,520,411 (GRCm39)	E511G	probably benign	Het
Zfp560	C	T	9: 20,260,019 (GRCm39)	C281Y	probably 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
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
R8196:Adam6b	UTSW	12	113,454,087 (GRCm39)	missense	probably benign	0.19
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'- GCCATAATACAGGTTCTCCCTC -3'
(R):5'- CCTCTCAGCTGGATTAACCTGG -3'

Sequencing Primer
(F):5'- TTGGAATATGCAGATGGAGCTCCC -3'
(R):5'- TCAGCTGGATTAACCTGGTTATC -3'

Posted On

2015-07-21