Mutagenetix > Incidental Mutation

Incidental Mutation 'R6773:Adrm1b'

532231

Institutional Source

Beutler Lab

Gene Symbol

Adrm1b

Ensembl Gene

ENSMUSG00000042165

Gene Name

adhesion regulating molecule 1B

Synonyms

Gm9774

MMRRC Submission

044889-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.597) question?

Stock #

R6773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92335374-92336730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92336556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 49 (I49F)

Ref Sequence

ENSEMBL: ENSMUSP00000045065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047300] [ENSMUST00000067102] [ENSMUST00000192538]

AlphaFold

A0A0A6YVU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000047300
AA Change: I49F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045065
Gene: ENSMUSG00000042165
AA Change: I49F

Domain	Start	End	E-Value	Type
Pfam:Proteasom_Rpn13	29	111	5.8e-36	PFAM
low complexity region	132	150	N/A	INTRINSIC
Pfam:RPN13_C	170	283	7.5e-38	PFAM
low complexity region	292	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067102

SMART Domains

Protein: ENSMUSP00000063287
Gene: ENSMUSG00000054215

Domain	Start	End	E-Value	Type
Pfam:SPRR2	2	65	1.8e-26	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000192538
AA Change: I49F

SMART Domains

Protein: ENSMUSP00000141274
Gene: ENSMUSG00000042165
AA Change: I49F

Domain	Start	End	E-Value	Type
Pfam:Proteasom_Rpn13	29	112	7.4e-35	PFAM
low complexity region	135	161	N/A	INTRINSIC
low complexity region	173	254	N/A	INTRINSIC
PDB:2KR0\|A	255	407	4e-78	PDB

Meta Mutation Damage Score

0.7252

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp6	A	G	15: 99,500,558 (GRCm39)	D161G	probably damaging	Het
Aqr	A	T	2: 113,979,477 (GRCm39)	N319K	possibly damaging	Het
Asns	C	A	6: 7,676,284 (GRCm39)	R424L	probably benign	Het
Atp4a	T	C	7: 30,414,802 (GRCm39)	V197A	probably damaging	Het
Ccdc70	A	G	8: 22,463,321 (GRCm39)	E37G	probably damaging	Het
Ccdc88b	A	T	19: 6,826,409 (GRCm39)	V1102E	possibly damaging	Het
Cd82	G	A	2: 93,252,221 (GRCm39)	A130V	probably benign	Het
Cfap46	T	C	7: 139,222,477 (GRCm39)		probably benign	Het
Cnot6l	A	C	5: 96,242,158 (GRCm39)	C188W	probably damaging	Het
Cxcr6	A	T	9: 123,639,355 (GRCm39)	T119S	possibly damaging	Het
Dok7	G	A	5: 35,234,528 (GRCm39)	R193H	probably damaging	Het
Dpy19l1	A	T	9: 24,352,068 (GRCm39)	S386T	probably damaging	Het
Frem3	A	C	8: 81,338,444 (GRCm39)	T246P	probably damaging	Het
Gm29666	A	T	15: 84,798,360 (GRCm39)	I67K	unknown	Het
Gpr153	T	A	4: 152,363,757 (GRCm39)	V59E	probably damaging	Het
Inpp4b	G	A	8: 82,583,249 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,482 (GRCm39)	I247V	possibly damaging	Het
Klri1	C	T	6: 129,680,510 (GRCm39)	V91M	possibly damaging	Het
M1ap	T	A	6: 82,945,061 (GRCm39)	D118E	probably damaging	Het
Map4	T	C	9: 109,863,993 (GRCm39)	V406A	probably benign	Het
Nedd4l	T	C	18: 65,300,622 (GRCm39)	V369A	probably benign	Het
Or5ac24	A	T	16: 59,165,579 (GRCm39)	L162I	probably damaging	Het
Otud4	A	G	8: 80,370,435 (GRCm39)	Y71C	possibly damaging	Het
Plcl1	A	G	1: 55,790,461 (GRCm39)	N1044D	probably benign	Het
Ppp4r3b	T	A	11: 29,155,639 (GRCm39)	M114K	probably benign	Het
Prune1	T	C	3: 95,171,082 (GRCm39)	D114G	probably damaging	Het
Rad54l2	A	T	9: 106,570,516 (GRCm39)	V1268D	probably benign	Het
Rbbp6	A	G	7: 122,598,578 (GRCm39)		probably benign	Het
Rimbp3	A	T	16: 17,026,879 (GRCm39)	E101V	probably damaging	Het
Rit1	C	T	3: 88,633,676 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Shisa9	A	G	16: 11,802,892 (GRCm39)	T150A	probably damaging	Het
Smpdl3a	T	C	10: 57,678,533 (GRCm39)	V112A	probably damaging	Het
Strada	T	A	11: 106,055,733 (GRCm39)	I305F	probably damaging	Het
Svep1	C	T	4: 58,049,146 (GRCm39)	E3454K	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tmem259	T	C	10: 79,813,422 (GRCm39)	D519G	possibly damaging	Het
Tns1	T	C	1: 73,958,866 (GRCm39)	Q445R	probably damaging	Het
Topbp1	A	G	9: 103,220,891 (GRCm39)	D20G	possibly damaging	Het
Trbv5	G	T	6: 41,039,551 (GRCm39)	W52L	probably damaging	Het
Trpc6	A	T	9: 8,634,058 (GRCm39)	H379L	probably damaging	Het
Tulp1	T	C	17: 28,581,876 (GRCm39)	K193E	probably damaging	Het
Unc80	T	C	1: 66,690,702 (GRCm39)	V2459A	probably benign	Het
Vps50	T	C	6: 3,592,560 (GRCm39)	V731A	probably benign	Het

Other mutations in Adrm1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Adrm1b	APN	3	92,335,707 (GRCm39)	missense	probably benign	0.06
IGL01474:Adrm1b	APN	3	92,335,650 (GRCm39)	missense	probably damaging	0.99
R0634:Adrm1b	UTSW	3	92,336,116 (GRCm39)	nonsense	probably null
R1791:Adrm1b	UTSW	3	92,335,538 (GRCm39)	missense	probably damaging	0.99
R2215:Adrm1b	UTSW	3	92,335,730 (GRCm39)	missense	probably damaging	0.97
R4077:Adrm1b	UTSW	3	92,336,195 (GRCm39)	unclassified	probably benign
R5221:Adrm1b	UTSW	3	92,335,815 (GRCm39)	missense	probably benign	0.00
R5481:Adrm1b	UTSW	3	92,336,658 (GRCm39)	missense	possibly damaging	0.94
R5589:Adrm1b	UTSW	3	92,336,112 (GRCm39)	unclassified	probably benign
R5611:Adrm1b	UTSW	3	92,335,758 (GRCm39)	missense	probably damaging	1.00
R5621:Adrm1b	UTSW	3	92,335,664 (GRCm39)	missense	probably damaging	1.00
R6012:Adrm1b	UTSW	3	92,336,791 (GRCm39)	splice site	probably null
R6538:Adrm1b	UTSW	3	92,336,562 (GRCm39)	missense	possibly damaging	0.76
R6995:Adrm1b	UTSW	3	92,336,315 (GRCm39)	unclassified	probably benign
R7953:Adrm1b	UTSW	3	92,336,637 (GRCm39)	missense	probably benign	0.03
R7980:Adrm1b	UTSW	3	92,336,406 (GRCm39)	nonsense	probably null
R8055:Adrm1b	UTSW	3	92,336,139 (GRCm39)	missense	unknown
R9058:Adrm1b	UTSW	3	92,335,559 (GRCm39)	missense	probably benign	0.02
Z1088:Adrm1b	UTSW	3	92,336,397 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATCTTGGTCAGTCTTGGGC -3'
(R):5'- GGGATTGAAAACTGTTCCAGGC -3'

Sequencing Primer
(F):5'- GGCTCCTGCATCCAGAAGAAG -3'
(R):5'- TTGAAAACTGTTCCAGGCCCCTAG -3'

Posted On

2018-08-29