Mutagenetix > Incidental Mutation

Incidental Mutation 'R6768:Adam6b'

532055

Institutional Source

Beutler Lab

Gene Symbol

Adam6b

Ensembl Gene

ENSMUSG00000051804

Gene Name

a disintegrin and metallopeptidase domain 6B

Synonyms

4930523C11Rik

MMRRC Submission

044884-MU

Accession Numbers

Essential gene?

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

Stock #

R6768 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113453185-113455455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113453863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 227 (V227I)

Ref Sequence

ENSEMBL: ENSMUSP00000065529 (fasta)

Gene Model

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

AlphaFold

Q6IMH7

Predicted Effect

probably benign
Transcript: ENSMUST00000063317
AA Change: V227I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: V227I

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: 100.0%
3x: 99.8%
10x: 98.9%
20x: 97.2%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtrap	A	G	4: 148,166,067 (GRCm39)	V106A	probably benign	Het
Aldh3a2	A	C	11: 61,144,536 (GRCm39)	S341A	probably benign	Het
Bmper	T	A	9: 23,292,749 (GRCm39)	C353S	probably damaging	Het
Casq1	C	T	1: 172,047,245 (GRCm39)	D5N	probably benign	Het
Ccin	G	A	4: 43,984,574 (GRCm39)	R327H	probably benign	Het
Chuk	A	G	19: 44,085,390 (GRCm39)	V252A	probably damaging	Het
Colec11	T	C	12: 28,645,100 (GRCm39)		probably null	Het
Cpeb3	G	A	19: 37,002,432 (GRCm39)	T643I	possibly damaging	Het
Cstpp1	A	T	2: 91,252,303 (GRCm39)	H19Q	probably damaging	Het
Ctcfl	A	G	2: 172,959,084 (GRCm39)	V214A	possibly damaging	Het
Dst	A	G	1: 34,220,793 (GRCm39)	E2199G	probably damaging	Het
Eno2	T	C	6: 124,744,711 (GRCm39)	E45G	probably damaging	Het
Foxa2	T	C	2: 147,885,747 (GRCm39)	H181R	probably damaging	Het
Fpgs	A	G	2: 32,576,635 (GRCm39)	S331P	probably benign	Het
Gm47189	A	G	14: 41,492,035 (GRCm39)	S81P	probably benign	Het
Igsf8	C	A	1: 172,145,099 (GRCm39)	P142Q	probably damaging	Het
Islr	G	T	9: 58,064,893 (GRCm39)	Q205K	possibly damaging	Het
Josd1	A	G	15: 79,561,323 (GRCm39)	W162R	probably benign	Het
Lrrc37a	G	A	11: 103,390,949 (GRCm39)	T1492I	probably benign	Het
Meox1	A	G	11: 101,770,161 (GRCm39)	F189L	probably damaging	Het
Mtf1	G	A	4: 124,731,578 (GRCm39)	D385N	probably benign	Het
Naip2	A	T	13: 100,314,832 (GRCm39)	C315*	probably null	Het
Ncaph2	T	A	15: 89,248,202 (GRCm39)	Y166*	probably null	Het
Nr1i3	G	A	1: 171,044,966 (GRCm39)	V270M	probably damaging	Het
Or11h4b	A	G	14: 50,919,049 (GRCm39)	L14S	probably damaging	Het
Or13c7	T	C	4: 43,854,351 (GRCm39)	I14T	probably benign	Het
Panx3	T	C	9: 37,575,322 (GRCm39)	K180R	probably benign	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Reln	A	C	5: 22,183,905 (GRCm39)	V1698G	probably damaging	Het
Rnf213	G	T	11: 119,333,062 (GRCm39)	R2757L	probably damaging	Het
Scgb2b26	G	T	7: 33,644,379 (GRCm39)	T4K	probably damaging	Het
Sdhb	A	G	4: 140,706,364 (GRCm39)	E267G	probably damaging	Het
Sorbs1	A	T	19: 40,315,991 (GRCm39)	N383K	probably damaging	Het
Stk11ip	T	A	1: 75,509,279 (GRCm39)	C766S	probably benign	Het
Taf6l	A	C	19: 8,751,913 (GRCm39)	S592A	probably damaging	Het
Tmem145	G	A	7: 25,008,061 (GRCm39)	G235D	probably damaging	Het
Tuba3b	T	A	6: 145,564,455 (GRCm39)		probably null	Het
Ubl7	A	T	9: 57,820,045 (GRCm39)	E32D	probably benign	Het
Vmn1r168	A	T	7: 23,240,460 (GRCm39)	T106S	probably damaging	Het
Vmn2r59	C	A	7: 41,661,392 (GRCm39)	V808F	probably benign	Het
Vmn2r61	C	T	7: 41,949,748 (GRCm39)	P723S	probably damaging	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp11	G	T	5: 129,735,415 (GRCm39)	D15E	probably benign	Het
Zfp428	G	A	7: 24,214,908 (GRCm39)	G162R	probably damaging	Het
Zfp629	G	A	7: 127,209,997 (GRCm39)	T604I	probably benign	Het
Zfpm1	C	A	8: 123,061,195 (GRCm39)	D253E	probably damaging	Het
Zhx1	G	T	15: 57,917,499 (GRCm39)	T249K	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
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'- CCCTCAATGATTCACAGAGCTTTG -3'
(R):5'- TTATAAGCCGACCCTCCTGG -3'

Sequencing Primer
(F):5'- TCACAGAGCTTTGAACACCTTG -3'
(R):5'- TGGAACTGCAAACTCAAGTCG -3'

Posted On

2018-08-29