Mutagenetix > Incidental Mutation

Incidental Mutation 'R6453:2300002M23Rik'

520132

Institutional Source

Beutler Lab

Gene Symbol

2300002M23Rik

Ensembl Gene

ENSMUSG00000039269

Gene Name

RIKEN cDNA 2300002M23 gene

Synonyms

emprin

MMRRC Submission

044589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6453 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35878382-35879842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35879109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 149 (S149L)

Ref Sequence

ENSEMBL: ENSMUSP00000038043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044326]

AlphaFold

Q8BM15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044326
AA Change: S149L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038043
Gene: ENSMUSG00000039269
AA Change: S149L

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:STG	34	260	4.8e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174246

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.6%
20x: 92.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Female homozygous null mice exhibit reduced body weight and total body fat. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,868,782 (GRCm39)	D354V	possibly damaging	Het
Acta2	G	A	19: 34,224,057 (GRCm39)	T150I	probably damaging	Het
Adgra1	T	A	7: 139,455,343 (GRCm39)	S324T	probably benign	Het
Ankrd44	A	T	1: 54,696,863 (GRCm39)		probably null	Het
B430306N03Rik	T	A	17: 48,623,764 (GRCm39)	W22R	probably damaging	Het
Ccdc162	A	T	10: 41,426,821 (GRCm39)	V2024E	probably damaging	Het
Cers6	C	T	2: 68,877,513 (GRCm39)	H164Y	probably benign	Het
Chd3	T	A	11: 69,240,938 (GRCm39)	K1458*	probably null	Het
Cimip1	A	G	2: 173,370,052 (GRCm39)	Y109C	probably benign	Het
Col3a1	G	A	1: 45,378,538 (GRCm39)		probably benign	Het
Cyb5d2	T	G	11: 72,673,586 (GRCm39)	T3P	probably benign	Het
Dennd1b	A	G	1: 139,071,686 (GRCm39)	Y468C	probably benign	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Exoc7	T	C	11: 116,184,795 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,173,042 (GRCm39)	I2557T	probably benign	Het
Flt1	T	C	5: 147,620,751 (GRCm39)	D131G	possibly damaging	Het
Frem1	G	T	4: 82,833,062 (GRCm39)	S1858*	probably null	Het
Garem1	T	A	18: 21,281,796 (GRCm39)	I187F	probably damaging	Het
Gldc	A	T	19: 30,093,917 (GRCm39)	I700N	probably damaging	Het
Gpatch4	A	G	3: 87,962,312 (GRCm39)	E175G	probably damaging	Het
Gria2	A	G	3: 80,648,281 (GRCm39)	Y152H	possibly damaging	Het
H2-Q2	C	T	17: 35,563,871 (GRCm39)	L251F	probably benign	Het
Hectd4	G	A	5: 121,488,655 (GRCm39)	G3649R	probably damaging	Het
Hormad1	A	G	3: 95,485,568 (GRCm39)	E252G	probably benign	Het
Kif14	A	G	1: 136,410,042 (GRCm39)		probably null	Het
Lmcd1	A	G	6: 112,292,789 (GRCm39)	T214A	probably benign	Het
Macrod2	A	G	2: 142,018,545 (GRCm39)	E226G	probably damaging	Het
Mcm4	A	T	16: 15,448,273 (GRCm39)	L428Q	probably damaging	Het
Msh6	T	A	17: 88,293,167 (GRCm39)	Y641N	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nipa2	A	T	7: 55,585,569 (GRCm39)	M142K	probably damaging	Het
Or8b1c	T	C	9: 38,384,871 (GRCm39)	I276T	probably benign	Het
Parvg	A	T	15: 84,213,126 (GRCm39)	E122V	probably null	Het
Pclo	T	A	5: 14,726,803 (GRCm39)		probably benign	Het
Pik3cd	A	G	4: 149,736,759 (GRCm39)	V933A	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Qpctl	C	T	7: 18,875,222 (GRCm39)	V337I	probably damaging	Het
Qrfprl	G	A	6: 65,430,014 (GRCm39)	G237S	possibly damaging	Het
Ralgapa1	A	G	12: 55,785,104 (GRCm39)	W719R	probably damaging	Het
Rangrf	A	G	11: 68,864,378 (GRCm39)	L28P	probably damaging	Het
Rbbp9	G	T	2: 144,391,054 (GRCm39)	Q38K	probably benign	Het
Rnf169	C	T	7: 99,584,434 (GRCm39)	M246I	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Sdk1	A	G	5: 142,082,676 (GRCm39)	D1098G	probably damaging	Het
Sgsm3	T	A	15: 80,895,515 (GRCm39)	S689T	probably damaging	Het
Slc13a3	C	T	2: 165,253,867 (GRCm39)	V429M	possibly damaging	Het
Slc30a5	A	T	13: 100,951,197 (GRCm39)	D228E	probably benign	Het
Slc46a3	A	G	5: 147,823,200 (GRCm39)	I214T	possibly damaging	Het
Slc7a15	T	C	12: 8,584,490 (GRCm39)	M347V	possibly damaging	Het
Slc9a2	A	T	1: 40,781,781 (GRCm39)	I337F	possibly damaging	Het
Sostdc1	C	A	12: 36,364,407 (GRCm39)	P39T	probably benign	Het
Speg	A	G	1: 75,394,616 (GRCm39)	N1775S	probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sptbn2	A	T	19: 4,794,208 (GRCm39)	R1471W	possibly damaging	Het
Thada	T	C	17: 84,723,751 (GRCm39)	E1101G	probably damaging	Het
Trpm6	G	A	19: 18,807,354 (GRCm39)	A1033T	probably damaging	Het
Ttll6	G	A	11: 96,049,553 (GRCm39)	R757H	probably benign	Het

Other mutations in 2300002M23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:2300002M23Rik	APN	17	35,878,730 (GRCm39)	critical splice acceptor site	probably null
IGL02604:2300002M23Rik	APN	17	35,878,845 (GRCm39)	missense	probably benign	0.01
R1154:2300002M23Rik	UTSW	17	35,879,673 (GRCm39)	missense	probably damaging	1.00
R2184:2300002M23Rik	UTSW	17	35,879,115 (GRCm39)	missense	probably benign
R2406:2300002M23Rik	UTSW	17	35,879,352 (GRCm39)	missense	probably damaging	0.96
R3824:2300002M23Rik	UTSW	17	35,878,508 (GRCm39)	missense	probably benign
R4739:2300002M23Rik	UTSW	17	35,878,403 (GRCm39)	utr 5 prime	probably benign
R4936:2300002M23Rik	UTSW	17	35,879,212 (GRCm39)	missense	possibly damaging	0.92
R5318:2300002M23Rik	UTSW	17	35,878,883 (GRCm39)	missense	possibly damaging	0.95
R5459:2300002M23Rik	UTSW	17	35,879,079 (GRCm39)	missense	possibly damaging	0.91
R6761:2300002M23Rik	UTSW	17	35,878,845 (GRCm39)	missense	probably benign	0.01
R7847:2300002M23Rik	UTSW	17	35,879,549 (GRCm39)	missense	probably benign
R9406:2300002M23Rik	UTSW	17	35,879,487 (GRCm39)	missense	possibly damaging	0.96
RF010:2300002M23Rik	UTSW	17	35,879,473 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCCTGTGAATAATGAGTTACTAGG -3'
(R):5'- ACTTCCCCAGGATGTTCCAG -3'

Sequencing Primer
(F):5'- TTCCCAGGCTCAGCGAATC -3'
(R):5'- CAGGATGTTCCAGGCCTTAGGATC -3'

Posted On

2018-06-06