Mutagenetix > Incidental Mutation

Incidental Mutation 'R5221:Adrm1b'

402303

Institutional Source

Beutler Lab

Gene Symbol

Adrm1b

Ensembl Gene

ENSMUSG00000042165

Gene Name

adhesion regulating molecule 1B

Synonyms

Gm9774

MMRRC Submission

042794-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.597) question?

Stock #

R5221 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92335374-92336730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92335815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 296 (I296V)

Ref Sequence

ENSEMBL: ENSMUSP00000141274 (fasta)

Gene Model

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

AlphaFold

A0A0A6YVU8

Predicted Effect

unknown
Transcript: ENSMUST00000047300
AA Change: I198V

SMART Domains

Protein: ENSMUSP00000045065
Gene: ENSMUSG00000042165
AA Change: I198V

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

probably benign
Transcript: ENSMUST00000192538
AA Change: I296V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141274
Gene: ENSMUSG00000042165
AA Change: I296V

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

0.0846

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antkmt	T	C	17: 26,010,613 (GRCm39)	N67S	possibly damaging	Het
Arhgap26	T	A	18: 39,243,525 (GRCm39)	Y134*	probably null	Het
Asap2	A	G	12: 21,263,191 (GRCm39)	I269V	probably benign	Het
Bean1	A	T	8: 104,941,784 (GRCm39)	D34V	probably damaging	Het
C8a	C	T	4: 104,703,122 (GRCm39)	V312M	probably damaging	Het
Ccser1	T	C	6: 61,289,075 (GRCm39)	S413P	probably damaging	Het
Col4a2	A	G	8: 11,498,225 (GRCm39)	N1678S	probably benign	Het
Coq2	G	A	5: 100,805,698 (GRCm39)	H313Y	possibly damaging	Het
Dsg1a	T	A	18: 20,457,071 (GRCm39)	M148K	possibly damaging	Het
Farp2	T	A	1: 93,504,140 (GRCm39)	C306S	probably damaging	Het
Frem2	A	G	3: 53,493,032 (GRCm39)	V1828A	probably damaging	Het
Gm6457	T	C	18: 14,703,174 (GRCm39)		noncoding transcript	Het
Gmip	T	G	8: 70,266,785 (GRCm39)	V300G	probably damaging	Het
Gstp3	A	G	19: 4,107,607 (GRCm39)	S186P	probably damaging	Het
Gvin-ps3	G	C	7: 105,683,181 (GRCm39)		noncoding transcript	Het
Kl	G	T	5: 150,912,616 (GRCm39)	L788F	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrp1b	A	C	2: 41,002,994 (GRCm39)	S1932A	possibly damaging	Het
Lrrc36	A	G	8: 106,170,488 (GRCm39)	T234A	probably damaging	Het
Mafa	T	A	15: 75,618,891 (GRCm39)	Q294L	possibly damaging	Het
Mesp2	C	T	7: 79,461,467 (GRCm39)	T264I	possibly damaging	Het
Mindy4	A	G	6: 55,201,092 (GRCm39)	Y259C	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2d3c	A	T	7: 106,526,268 (GRCm39)	S133T	probably benign	Het
Or5as1	T	C	2: 86,980,825 (GRCm39)	Y60C	probably damaging	Het
Or5m13b	A	G	2: 85,754,493 (GRCm39)	N294D	probably damaging	Het
Or8b48	A	T	9: 38,493,148 (GRCm39)	T192S	probably damaging	Het
Pcm1	T	C	8: 41,741,193 (GRCm39)		probably null	Het
Plxna1	T	C	6: 89,297,998 (GRCm39)	D1760G	probably damaging	Het
Polq	T	A	16: 36,862,540 (GRCm39)	D345E	probably damaging	Het
Ppp1r14a	T	A	7: 28,988,926 (GRCm39)	I56N	probably damaging	Het
Ppp1r1a	G	A	15: 103,441,477 (GRCm39)	P79S	probably damaging	Het
Ptprf	C	T	4: 118,082,305 (GRCm39)	R1010H	probably benign	Het
Rai1	A	G	11: 60,081,423 (GRCm39)	E1829G	probably damaging	Het
Rmdn3	A	G	2: 118,986,935 (GRCm39)	Y31H	probably damaging	Het
Rrh	T	C	3: 129,609,280 (GRCm39)	S69G	probably damaging	Het
Skint6	A	T	4: 112,752,121 (GRCm39)		probably null	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Sltm	T	G	9: 70,486,685 (GRCm39)	L450R	probably damaging	Het
Sufu	T	C	19: 46,439,404 (GRCm39)		probably null	Het
Tmem68	T	C	4: 3,560,561 (GRCm39)	T208A	possibly damaging	Het
Tnc	T	A	4: 63,911,534 (GRCm39)	R1346*	probably null	Het
Tpbg	T	C	9: 85,726,478 (GRCm39)	L149P	probably damaging	Het
Trappc14	C	T	5: 138,260,502 (GRCm39)	S308N	probably benign	Het
Ubtf	G	A	11: 102,198,816 (GRCm39)	Q585*	probably null	Het
Vmn2r68	A	T	7: 84,871,085 (GRCm39)	C733S	probably damaging	Het
Vmn2r-ps158	T	A	7: 42,672,684 (GRCm39)	H106Q	probably benign	Het
Wscd1	G	T	11: 71,659,501 (GRCm39)	G194W	possibly damaging	Het
Zfp354b	A	C	11: 50,813,917 (GRCm39)	I336S	probably benign	Het
Zfp462	T	A	4: 55,016,887 (GRCm39)	V870E	possibly damaging	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
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
R6773:Adrm1b	UTSW	3	92,336,556 (GRCm39)	missense	probably damaging	0.99
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'- GGCAAATGCTTCCACATCAC -3'
(R):5'- AGCAGCTCTTCATCCAGCTC -3'

Sequencing Primer
(F):5'- TCATGAGAGGGCCAAGCTGTC -3'
(R):5'- TTCATCCAGCTCCCGGAG -3'

Posted On

2016-07-22