Mutagenetix > Incidental Mutation

Incidental Mutation 'RF044:A030005L19Rik'

604944

Institutional Source

Beutler Lab

Gene Symbol

A030005L19Rik

Ensembl Gene

ENSMUSG00000113880

Gene Name

RIKEN cDNA A030005L19 gene

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

RF044 (G1)

Quality Score

214.467

Status

Not validated

Chromosome

Chromosomal Location

82891046-82891851 bp(+) (GRCm39)

Type of Mutation

small insertion (3 aa in frame mutation)

DNA Base Change (assembly)

TG to TGTGGCTGCCG at 82891310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000220768]

AlphaFold

A0A1Y7VIU2

Predicted Effect

probably benign
Transcript: ENSMUST00000220768

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Blm	CTCC	CTCCTCCTCCTCATCC	7: 80,162,678 (GRCm39)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,486,296 (GRCm39)		probably null	Het
Ccdc85c	GCC	GCCACC	12: 108,240,871 (GRCm39)		probably benign	Het
Chga	AGC	AGCGGC	12: 102,527,655 (GRCm39)		probably benign	Het
Crtam	TTCTTGATCTGAA	T	9: 40,895,650 (GRCm39)		probably null	Het
Dspp	TGACAGCAGCGACAGCAG	TGACAGCAGCGACAGCAGAGACAGCAGCGACAGCAG	5: 104,326,290 (GRCm39)		probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,079 (GRCm39)		probably benign	Het
F830016B08Rik	AAAAAA	AAAAAAAAA	18: 60,433,010 (GRCm39)		probably benign	Het
Gab3	TCT	TCTCCT	X: 74,043,611 (GRCm39)		probably benign	Het
Gabre	CTC	CTCCGGATC	X: 71,313,667 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Haus4	AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG	AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG	14: 54,781,577 (GRCm39)		probably null	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 67,875,927 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATCG	6: 145,119,516 (GRCm39)		probably benign	Het
Krtap28-10	CCACAG	CCACAGACACAG	1: 83,019,852 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Het
Map1a	CAGCTCCAGCTCCAGCTCCAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAAGCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,774 (GRCm39)		probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,295,542 (GRCm39)		probably null	Het
Morn4	GTGAG	GTGAGTCAAGCATTGAG	19: 42,064,553 (GRCm39)		probably null	Het
Nefh	CCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG	CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG	11: 4,891,021 (GRCm39)		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,891,016 (GRCm39)		probably benign	Het
Nefh	TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,023 (GRCm39)		probably benign	Het
Nolc1	CAGCAGC	CAGCAGCAGAAGCAGC	19: 46,069,810 (GRCm39)		probably benign	Het
Or10n7-ps1	AAAATA	AAAATAAATA	9: 39,598,043 (GRCm39)		probably null	Het
Phc1	TG	TGCTGCGG	6: 122,300,559 (GRCm39)		probably benign	Het
Pla2g4e	AGGG	A	2: 120,075,205 (GRCm39)		probably benign	Het
Prr36	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	8: 4,266,273 (GRCm39)		probably benign	Het
Ptdss1	G	T	13: 67,093,412 (GRCm39)	S84I	possibly damaging	Het
Ren1	ACCGC	AC	1: 133,278,519 (GRCm39)		probably benign	Het
Rinl	G	T	7: 28,496,988 (GRCm39)	G496V	probably damaging	Het
Ryr3	CTGA	C	2: 112,740,869 (GRCm39)		probably benign	Het
Sbp	A	AAAAAGATGATGACAC	17: 24,164,340 (GRCm39)		probably benign	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCACTGTGTTC	15: 76,499,070 (GRCm39)		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846 (GRCm39)		probably benign	Het
Spaca1	TCGC	TCGCTCGCGC	4: 34,049,854 (GRCm39)		probably benign	Het
Spmap2l	ATCCTCCCCAGTCCCGCAAGGCCAG	ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG	5: 77,164,252 (GRCm39)		probably benign	Het
Strn	C	CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTA	17: 78,984,717 (GRCm39)		probably null	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)		probably benign	Het
Tob1	GCA	GCAACA	11: 94,105,287 (GRCm39)		probably benign	Het
Zfp683	TGTGG	TGTGGTGG	4: 133,786,185 (GRCm39)		probably benign	Het

Other mutations in A030005L19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
RF001:A030005L19Rik	UTSW	1	82,891,311 (GRCm39)	small insertion	probably benign
RF005:A030005L19Rik	UTSW	1	82,891,306 (GRCm39)	small insertion	probably benign
RF011:A030005L19Rik	UTSW	1	82,891,307 (GRCm39)	small insertion	probably benign
RF011:A030005L19Rik	UTSW	1	82,891,294 (GRCm39)	small insertion	probably benign
RF011:A030005L19Rik	UTSW	1	82,891,290 (GRCm39)	small insertion	probably benign
RF016:A030005L19Rik	UTSW	1	82,891,298 (GRCm39)	small insertion	probably benign
RF018:A030005L19Rik	UTSW	1	82,891,293 (GRCm39)	small insertion	probably benign
RF021:A030005L19Rik	UTSW	1	82,891,290 (GRCm39)	small insertion	probably benign
RF023:A030005L19Rik	UTSW	1	82,891,117 (GRCm39)	small deletion	probably benign
RF028:A030005L19Rik	UTSW	1	82,891,301 (GRCm39)	small insertion	probably benign
RF028:A030005L19Rik	UTSW	1	82,891,299 (GRCm39)	small insertion	probably benign
RF034:A030005L19Rik	UTSW	1	82,891,301 (GRCm39)	small insertion	probably benign
RF035:A030005L19Rik	UTSW	1	82,891,310 (GRCm39)	small insertion	probably benign
RF038:A030005L19Rik	UTSW	1	82,891,301 (GRCm39)	small insertion	probably benign
RF040:A030005L19Rik	UTSW	1	82,891,311 (GRCm39)	small insertion	probably benign
RF040:A030005L19Rik	UTSW	1	82,891,298 (GRCm39)	small insertion	probably benign
RF042:A030005L19Rik	UTSW	1	82,891,305 (GRCm39)	small insertion	probably benign
RF053:A030005L19Rik	UTSW	1	82,891,294 (GRCm39)	small insertion	probably benign
RF059:A030005L19Rik	UTSW	1	82,891,300 (GRCm39)	small insertion	probably benign
RF060:A030005L19Rik	UTSW	1	82,891,308 (GRCm39)	small insertion	probably benign
RF060:A030005L19Rik	UTSW	1	82,891,300 (GRCm39)	nonsense	probably null
RF060:A030005L19Rik	UTSW	1	82,891,117 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCCTCTCTACTGACAACATGG -3'
(R):5'- CAGTGTGGCCTCCATATCTC -3'

Sequencing Primer
(F):5'- CAACATGGGTTGCTGTGGC -3'
(R):5'- GGCCTCCATATCTCCTAGGTAGG -3'

Posted On

2019-12-04