Mutagenetix > Incidental Mutation

Incidental Mutation 'R4438:Adam6b'

329637

Institutional Source

Beutler Lab

Gene Symbol

Adam6b

Ensembl Gene

ENSMUSG00000051804

Gene Name

a disintegrin and metallopeptidase domain 6B

Synonyms

4930523C11Rik

MMRRC Submission

041703-MU

Accession Numbers

Essential gene?

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

Stock #

R4438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113453185-113455455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 113454281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 366 (Q366P)

Ref Sequence

ENSEMBL: ENSMUSP00000065529 (fasta)

Gene Model

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

AlphaFold

Q6IMH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000063317
AA Change: Q366P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: Q366P

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	A	2: 58,367,739 (GRCm39)	I141F	probably benign	Het
Adck1	C	T	12: 88,397,920 (GRCm39)	Q185*	probably null	Het
Adgrb3	T	C	1: 25,870,108 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,714,466 (GRCm39)	S105P	probably damaging	Het
Asns	C	A	6: 7,675,320 (GRCm39)	A561S	probably benign	Het
Bcl2a1d	A	T	9: 88,613,753 (GRCm39)	M7K	probably benign	Het
Bst1	A	T	5: 43,982,682 (GRCm39)		probably null	Het
Cdc37l1	T	C	19: 28,985,021 (GRCm39)	F224L	probably damaging	Het
Csmd3	G	A	15: 47,763,191 (GRCm39)	T1215I	possibly damaging	Het
Csnk1e	A	T	15: 79,305,129 (GRCm39)	S323T	probably benign	Het
Cyp2j7	G	T	4: 96,105,646 (GRCm39)	T288K	probably benign	Het
Dnaaf5	T	A	5: 139,149,147 (GRCm39)	I482N	probably damaging	Het
Dpy19l3	A	G	7: 35,392,284 (GRCm39)	I636T	probably damaging	Het
Enpep	T	G	3: 129,077,740 (GRCm39)	T626P	possibly damaging	Het
Fgfr2	G	A	7: 129,774,660 (GRCm39)	R509*	probably null	Het
Gm5849	T	A	3: 90,685,182 (GRCm39)	K1M	probably null	Het
Gpr83	T	C	9: 14,776,134 (GRCm39)	Y152H	probably damaging	Het
Hdac7	T	C	15: 97,705,596 (GRCm39)	E400G	probably damaging	Het
Hypk	A	T	2: 121,288,475 (GRCm39)	E82V	probably damaging	Het
Iqub	C	A	6: 24,505,867 (GRCm39)	A14S	probably benign	Het
Lias	T	C	5: 65,552,787 (GRCm39)	M130T	probably damaging	Het
Lingo4	T	C	3: 94,310,204 (GRCm39)	S381P	possibly damaging	Het
Mdn1	A	G	4: 32,704,635 (GRCm39)	T1536A	probably damaging	Het
Moxd2	T	A	6: 40,860,996 (GRCm39)	D265V	probably damaging	Het
Mtbp	C	A	15: 55,466,611 (GRCm39)	S541R	probably benign	Het
Or10j27	C	A	1: 172,957,869 (GRCm39)	C305F	probably benign	Het
Or2a54	T	C	6: 43,093,221 (GRCm39)	S182P	probably benign	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Pcsk9	G	T	4: 106,316,156 (GRCm39)	Q96K	probably benign	Het
Pramel14	T	C	4: 143,718,192 (GRCm39)	Y417C	probably damaging	Het
Rln1	A	T	19: 29,311,962 (GRCm39)	F12Y	possibly damaging	Het
Setd1a	A	G	7: 127,384,903 (GRCm39)	N585D	possibly damaging	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Smarcal1	T	C	1: 72,650,637 (GRCm39)		probably benign	Het
Snx19	G	T	9: 30,339,895 (GRCm39)	L344F	probably benign	Het
Srfbp1	T	C	18: 52,621,403 (GRCm39)	C155R	probably benign	Het
Sspo	C	T	6: 48,464,287 (GRCm39)	R3914C	probably damaging	Het
Tacc2	G	A	7: 130,225,271 (GRCm39)	S652N	probably damaging	Het
Tmub1	A	C	5: 24,651,068 (GRCm39)	L197R	probably damaging	Het
Tnc	T	C	4: 63,926,066 (GRCm39)	T905A	possibly damaging	Het
Tnfrsf21	G	T	17: 43,398,733 (GRCm39)	R613L	possibly damaging	Het
Ugt3a1	A	T	15: 9,351,283 (GRCm39)	E97D	probably benign	Het
Vmn2r25	A	G	6: 123,816,756 (GRCm39)	I275T	probably benign	Het
Zfp1010	T	G	2: 176,956,889 (GRCm39)	Q203P	possibly damaging	Het
Zfp568	G	T	7: 29,721,721 (GRCm39)	C221F	probably benign	Het
Zfp91	C	A	19: 12,755,385 (GRCm39)	E217*	probably null	Het
Zswim3	T	A	2: 164,662,563 (GRCm39)	C348S	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
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
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'- TGGGCCACAAGATAACCAGG -3'
(R):5'- CTGAATAACATGCCTTTTGGGAGC -3'

Sequencing Primer
(F):5'- TAACCAGGTTAATCCAGCTGAG -3'
(R):5'- TTTTGGGAGCCACAGTCACAC -3'

Posted On

2015-07-21