Mutagenetix > Incidental Mutation

Incidental Mutation 'R8423:Adam6b'

653317

Institutional Source

Beutler Lab

Gene Symbol

Adam6b

Ensembl Gene

ENSMUSG00000051804

Gene Name

a disintegrin and metallopeptidase domain 6B

Synonyms

4930523C11Rik

MMRRC Submission

067899-MU

Accession Numbers

Essential gene?

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

Stock #

R8423 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113453185-113455455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113454530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 449 (D449G)

Ref Sequence

ENSEMBL: ENSMUSP00000065529 (fasta)

Gene Model

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

AlphaFold

Q6IMH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063317
AA Change: D449G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: D449G

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: 99.6%
20x: 98.6%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ampd1	T	C	3: 102,988,305 (GRCm39)	S83P	probably benign	Het
Bub1	G	A	2: 127,649,750 (GRCm39)	L703F	probably benign	Het
C1rb	T	A	6: 124,551,617 (GRCm39)	D242E	probably damaging	Het
Carf	T	A	1: 60,189,752 (GRCm39)	L659Q	possibly damaging	Het
Carmil3	A	G	14: 55,736,522 (GRCm39)	N662S	probably damaging	Het
Ccno	A	G	13: 113,124,678 (GRCm39)	S83G	possibly damaging	Het
Chd3	A	T	11: 69,245,252 (GRCm39)	Y1155*	probably null	Het
Clec16a	A	G	16: 10,394,527 (GRCm39)	E295G	probably benign	Het
Clnk	A	G	5: 38,952,253 (GRCm39)		probably null	Het
Clvs2	T	C	10: 33,498,855 (GRCm39)	D25G	possibly damaging	Het
Cnr2	C	T	4: 135,644,827 (GRCm39)	R302W	probably damaging	Het
Col20a1	A	G	2: 180,640,498 (GRCm39)	T594A	probably damaging	Het
Dclk3	C	T	9: 111,297,787 (GRCm39)	R444W	possibly damaging	Het
Dmxl1	T	C	18: 49,998,183 (GRCm39)	V761A	probably damaging	Het
Dnah7a	C	A	1: 53,512,063 (GRCm39)	K2999N	possibly damaging	Het
Dusp28	T	C	1: 92,834,906 (GRCm39)	S44P	probably damaging	Het
Enpep	T	G	3: 129,102,774 (GRCm39)	N394T	probably damaging	Het
Fam135a	A	T	1: 24,060,998 (GRCm39)	F1343I	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fbxo40	A	T	16: 36,790,947 (GRCm39)	H54Q	probably damaging	Het
Galnt9	A	G	5: 110,744,111 (GRCm39)	D315G	probably benign	Het
Gbp4	T	A	5: 105,267,800 (GRCm39)	D482V	probably damaging	Het
Gm17175	T	A	14: 51,809,070 (GRCm39)	I99F	possibly damaging	Het
Heatr4	A	G	12: 84,027,104 (GRCm39)	F51S	probably benign	Het
Herc1	T	C	9: 66,415,442 (GRCm39)	S4806P	probably damaging	Het
Hoxc11	G	A	15: 102,863,177 (GRCm39)	V73I	possibly damaging	Het
Knl1	T	G	2: 118,900,513 (GRCm39)	I738S	probably damaging	Het
Lcor	T	C	19: 41,573,888 (GRCm39)	I881T	possibly damaging	Het
Lipt2	T	C	7: 99,809,450 (GRCm39)	F179S	probably damaging	Het
Lrrc8b	G	A	5: 105,628,622 (GRCm39)	V323M	probably damaging	Het
Ltbp1	T	C	17: 75,599,852 (GRCm39)	S665P	probably benign	Het
Miga1	A	T	3: 152,028,045 (GRCm39)	D161E	probably benign	Het
Mynn	A	G	3: 30,657,933 (GRCm39)	T84A	probably benign	Het
Or13c7d	T	C	4: 43,770,598 (GRCm39)	S138G	possibly damaging	Het
Or3a1b	T	C	11: 74,012,492 (GRCm39)	F126L	probably benign	Het
Or4a75	A	T	2: 89,448,331 (GRCm39)	D68E	probably damaging	Het
Pik3r3	C	T	4: 116,079,572 (GRCm39)	S23L	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ralgapa1	A	G	12: 55,705,847 (GRCm39)	S1892P	probably damaging	Het
Slc6a18	T	A	13: 73,813,693 (GRCm39)	Q540L	probably benign	Het
Tfap2a	A	T	13: 40,872,706 (GRCm39)	N323K	possibly damaging	Het
Tgm1	A	T	14: 55,943,100 (GRCm39)	M580K	probably benign	Het
Tnrc6b	G	A	15: 80,813,619 (GRCm39)	G1792D	unknown	Het
Trim66	T	A	7: 109,074,599 (GRCm39)	Q554L	possibly damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn1r238	G	T	18: 3,123,365 (GRCm39)	C16*	probably null	Het
Vmn1r6	G	A	6: 56,979,495 (GRCm39)	M52I	probably benign	Het
Zfp61	A	G	7: 23,991,459 (GRCm39)	F231L	probably benign	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
R8196:Adam6b	UTSW	12	113,454,087 (GRCm39)	missense	probably benign	0.19
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'- TTGTTCCCTTGCAGAGATAAGC -3'
(R):5'- GTTGCGATCAGTGCAGTTAC -3'

Sequencing Primer
(F):5'- GCAACATACTTAATACTCCTGGTCTG -3'
(R):5'- GCAGTAACCATCTTCTGAGCATGG -3'

Posted On

2020-10-20