Mutagenetix > Incidental Mutation

Incidental Mutation 'R6704:Ermn'

528847

Institutional Source

Beutler Lab

Gene Symbol

Ermn

Ensembl Gene

ENSMUSG00000026830

Gene Name

ermin, ERM-like protein

Synonyms

A330104H05Rik

MMRRC Submission

044822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6704 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57935125-57942876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57938046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

Ref Sequence

ENSEMBL: ENSMUSP00000088458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090940] [ENSMUST00000166729]

AlphaFold

Q5EBJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090940
AA Change: D189G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088458
Gene: ENSMUSG00000026830
AA Change: D189G

Domain	Start	End	E-Value	Type
low complexity region	169	202	N/A	INTRINSIC
SCOP:d1ef1c_	249	278	5e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144671

Predicted Effect

probably benign
Transcript: ENSMUST00000166729

SMART Domains

Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC
Pfam:Glycos_transf_2	489	672	2.1e-30	PFAM
Pfam:Glyco_transf_7C	652	718	7e-8	PFAM
RICIN	801	925	1.36e-19	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	T	C	12: 8,060,379 (GRCm39)	S2921P	probably damaging	Het
Asxl3	G	A	18: 22,650,362 (GRCm39)	A784T	probably benign	Het
Atm	T	C	9: 53,370,153 (GRCm39)	I2320V	probably benign	Het
Ccdc152	T	A	15: 3,310,195 (GRCm39)	I227F	probably damaging	Het
Cd109	T	C	9: 78,587,357 (GRCm39)	V675A	probably benign	Het
Col3a1	T	C	1: 45,386,892 (GRCm39)	Y235H	probably damaging	Het
Dnmbp	T	C	19: 43,889,652 (GRCm39)	D705G	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Evx2	C	A	2: 74,486,499 (GRCm39)	A297S	probably damaging	Het
Fat1	T	C	8: 45,477,410 (GRCm39)	F2152S	probably damaging	Het
Fndc1	A	G	17: 7,990,642 (GRCm39)	V1018A	unknown	Het
Hyou1	T	C	9: 44,292,431 (GRCm39)		probably null	Het
Kcnma1	G	A	14: 24,052,882 (GRCm39)	Q187*	probably null	Het
Macf1	C	T	4: 123,304,555 (GRCm39)		probably benign	Het
Mcam	T	A	9: 44,048,217 (GRCm39)	D124E	probably benign	Het
Mical3	T	C	6: 120,986,761 (GRCm39)		probably benign	Het
Mlxipl	A	T	5: 135,166,094 (GRCm39)		probably null	Het
Myt1	A	G	2: 181,453,005 (GRCm39)	M1V	probably null	Het
Nlrc3	C	T	16: 3,782,945 (GRCm39)	V155I	probably damaging	Het
Nlrp2	A	C	7: 5,328,040 (GRCm39)	L671*	probably null	Het
Omd	A	G	13: 49,743,349 (GRCm39)	D133G	probably damaging	Het
Or5h19	T	C	16: 58,856,225 (GRCm39)	R292G	probably damaging	Het
Or9r7	T	A	10: 129,962,024 (GRCm39)	K301*	probably null	Het
Pappa	G	A	4: 65,123,161 (GRCm39)	C832Y	probably damaging	Het
Pcnx3	A	T	19: 5,736,515 (GRCm39)	V174E	possibly damaging	Het
Pfkl	C	T	10: 77,832,200 (GRCm39)	G297D	probably damaging	Het
Polr3a	A	G	14: 24,511,910 (GRCm39)	L882P	probably damaging	Het
Ptchd4	A	G	17: 42,627,931 (GRCm39)	T131A	probably benign	Het
Rad50	T	C	11: 53,589,745 (GRCm39)	N152S	probably damaging	Het
Ruvbl1	T	A	6: 88,456,187 (GRCm39)	M147K	probably benign	Het
Septin4	T	A	11: 87,479,856 (GRCm39)	I277N	probably damaging	Het
Serpini1	T	C	3: 75,545,255 (GRCm39)	V337A	probably damaging	Het
Tmem131	A	G	1: 36,835,261 (GRCm39)	V1620A	possibly damaging	Het
Tpr	A	G	1: 150,282,259 (GRCm39)	E248G	possibly damaging	Het
Ugt2b36	C	A	5: 87,239,990 (GRCm39)	V132F	probably damaging	Het
Utrn	T	C	10: 12,621,035 (GRCm39)	E212G	probably damaging	Het
Zc2hc1c	A	T	12: 85,337,258 (GRCm39)	Q305L	possibly damaging	Het

Other mutations in Ermn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Ermn	APN	2	57,942,707 (GRCm39)	missense	possibly damaging	0.84
IGL01620:Ermn	APN	2	57,942,502 (GRCm39)	missense	probably benign	0.05
IGL02756:Ermn	APN	2	57,937,824 (GRCm39)	missense	probably damaging	1.00
IGL03354:Ermn	APN	2	57,942,634 (GRCm39)	missense	probably benign	0.26
FR4304:Ermn	UTSW	2	57,938,098 (GRCm39)	unclassified	probably benign
FR4304:Ermn	UTSW	2	57,938,090 (GRCm39)	unclassified	probably benign
FR4449:Ermn	UTSW	2	57,938,086 (GRCm39)	unclassified	probably benign
FR4548:Ermn	UTSW	2	57,938,100 (GRCm39)	unclassified	probably benign
FR4548:Ermn	UTSW	2	57,938,087 (GRCm39)	unclassified	probably benign
FR4589:Ermn	UTSW	2	57,938,081 (GRCm39)	unclassified	probably benign
FR4976:Ermn	UTSW	2	57,938,100 (GRCm39)	unclassified	probably benign
FR4976:Ermn	UTSW	2	57,938,092 (GRCm39)	unclassified	probably benign
R0827:Ermn	UTSW	2	57,938,263 (GRCm39)	missense	probably damaging	1.00
R1655:Ermn	UTSW	2	57,942,596 (GRCm39)	missense	probably benign	0.01
R1799:Ermn	UTSW	2	57,938,249 (GRCm39)	missense	probably benign	0.06
R5691:Ermn	UTSW	2	57,937,776 (GRCm39)	missense	probably damaging	1.00
R6311:Ermn	UTSW	2	57,941,771 (GRCm39)	missense	probably damaging	1.00
R7444:Ermn	UTSW	2	57,938,079 (GRCm39)	unclassified	probably benign
R9217:Ermn	UTSW	2	57,938,010 (GRCm39)	missense	probably damaging	1.00
RF028:Ermn	UTSW	2	57,938,078 (GRCm39)	unclassified	probably benign
RF031:Ermn	UTSW	2	57,938,078 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAATTCCTGGCGATATCTCCC -3'
(R):5'- TTCCTCCGAACAGCAGTAAC -3'

Sequencing Primer
(F):5'- CTTCTTTCCGAACACTGGCTG -3'
(R):5'- TCCGAACAGCAGTAACCTGGAAG -3'

Posted On

2018-07-24