Mutagenetix > Incidental Mutation

Incidental Mutation 'R1271:1700019D03Rik'

151294

Institutional Source

Beutler Lab

Gene Symbol

1700019D03Rik

Ensembl Gene

ENSMUSG00000043629

Gene Name

RIKEN cDNA 1700019D03 gene

Synonyms

MMRRC Submission

039337-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

R1271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52961483-53031816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52964493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 78 (D78E)

Ref Sequence

ENSEMBL: ENSMUSP00000139750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044478] [ENSMUST00000050567] [ENSMUST00000114492] [ENSMUST00000114493] [ENSMUST00000159352] [ENSMUST00000186266] [ENSMUST00000190726] [ENSMUST00000190831] [ENSMUST00000191441]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044478

SMART Domains

Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426

Domain	Start	End	E-Value	Type
Pfam:ECH_1	43	282	6.6e-34	PFAM
Pfam:ECH_2	45	375	3.9e-141	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050567
AA Change: D78E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055413
Gene: ENSMUSG00000043629
AA Change: D78E

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114492
AA Change: D78E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110136
Gene: ENSMUSG00000043629
AA Change: D78E

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114493
AA Change: D78E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110137
Gene: ENSMUSG00000043629
AA Change: D78E

Domain	Start	End	E-Value	Type
Pfam:SmAKAP	1	100	2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159352

SMART Domains

Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426

Domain	Start	End	E-Value	Type
Pfam:ECH	44	299	1.3e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186266
AA Change: D78E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140273
Gene: ENSMUSG00000043629
AA Change: D78E

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190726
AA Change: D78E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140530
Gene: ENSMUSG00000043629
AA Change: D78E

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190831
AA Change: D78E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140160
Gene: ENSMUSG00000043629
AA Change: D78E

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191441
AA Change: D78E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139750
Gene: ENSMUSG00000043629
AA Change: D78E

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,939,657 (GRCm39)	F419I	possibly damaging	Het
Abca14	T	C	7: 119,924,340 (GRCm39)	V1664A	probably damaging	Het
Acadvl	A	G	11: 69,905,526 (GRCm39)	S71P	probably damaging	Het
Adcy2	A	T	13: 68,790,617 (GRCm39)	C916S	probably damaging	Het
Atad2	T	C	15: 57,989,985 (GRCm39)	T164A	probably benign	Het
Ccdc18	A	T	5: 108,349,982 (GRCm39)	K1045*	probably null	Het
Cemip2	T	A	19: 21,801,268 (GRCm39)	I795N	possibly damaging	Het
Cfap43	C	T	19: 47,728,183 (GRCm39)	E1525K	probably benign	Het
Cfap43	G	T	19: 47,736,387 (GRCm39)	S1368Y	probably damaging	Het
Csmd3	T	A	15: 47,874,455 (GRCm39)	I610L	probably benign	Het
Des	A	T	1: 75,337,290 (GRCm39)	T77S	probably benign	Het
Fnip1	T	C	11: 54,394,123 (GRCm39)	V853A	probably benign	Het
Gabrg1	T	A	5: 70,934,487 (GRCm39)	D292V	probably damaging	Het
Gcm1	A	G	9: 77,966,859 (GRCm39)	N26S	probably benign	Het
Gpsm1	G	T	2: 26,234,684 (GRCm39)	R507L	probably damaging	Het
H2-M1	T	A	17: 36,982,137 (GRCm39)	T155S	probably benign	Het
Hapln3	T	C	7: 78,767,764 (GRCm39)	D210G	probably damaging	Het
Magel2	T	C	7: 62,030,762 (GRCm39)	L1222P	unknown	Het
Mphosph10	A	T	7: 64,039,832 (GRCm39)		probably null	Het
Mup6	A	T	4: 60,003,579 (GRCm39)		probably benign	Het
Nsmce1	T	A	7: 125,070,426 (GRCm39)	E128D	probably damaging	Het
Or4c11	T	A	2: 88,695,475 (GRCm39)	Y175*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sorbs2	T	A	8: 46,249,004 (GRCm39)	S733T	probably damaging	Het
Stxbp5	A	T	10: 9,692,013 (GRCm39)	I377K	probably damaging	Het
Tnfsf4	T	A	1: 161,223,274 (GRCm39)	L41Q	probably damaging	Het
Tut7	A	C	13: 59,969,669 (GRCm39)	N75K	probably damaging	Het
Usp28	G	A	9: 48,947,261 (GRCm39)		probably null	Het

Other mutations in 1700019D03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01805:1700019D03Rik	APN	1	52,964,677 (GRCm39)	missense	possibly damaging	0.52
R4612:1700019D03Rik	UTSW	1	52,964,635 (GRCm39)	missense	probably benign
R5433:1700019D03Rik	UTSW	1	52,964,657 (GRCm39)	missense	probably damaging	0.96
R9379:1700019D03Rik	UTSW	1	52,964,635 (GRCm39)	missense	probably benign	0.00
R9502:1700019D03Rik	UTSW	1	52,964,662 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TAATGGCTGGGTGGCACAAGAC -3'
(R):5'- TGGACATTGACAAGCTGCATGAGAG -3'

Sequencing Primer
(F):5'- GACCTTCTGTGACCAAAACTTG -3'
(R):5'- CAAGCTGCATGAGAGTGAGG -3'

Posted On

2014-01-29