Mutagenetix > Incidental Mutation

Incidental Mutation 'RF028:Gm7579'

604232

Institutional Source

Beutler Lab

Gene Symbol

Gm7579

Ensembl Gene

ENSMUSG00000073786

Gene Name

predicted gene 7579

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

RF028 (G1)

Quality Score

177.466

Status

Not validated

Chromosome

Chromosomal Location

141765596-141766327 bp(+) (GRCm39)

Type of Mutation

small deletion (10 aa in frame mutation)

DNA Base Change (assembly)

GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG to GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG at 141765782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097943]

AlphaFold

A0A1B0GRJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000097943

SMART Domains

Protein: ENSMUSP00000095556
Gene: ENSMUSG00000073786

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	198	242	1.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097943

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
A030005L19Rik	GCTGTG	GCTGTGCCTCCTGTG	1: 82,891,299 (GRCm39)	probably benign	Het
A030005L19Rik	TGTGGCTGC	TGTGGCTGCCGTGGCTGC	1: 82,891,301 (GRCm39)	probably benign	Het
Acap3	TGCATCCTGGGCTGC	TGCATCCTGGGCTGCAGCATCCTGGGCTGC	4: 155,989,548 (GRCm39)	probably benign	Het
Arid1b	C	CGGG	17: 5,045,873 (GRCm39)	probably benign	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT	7: 80,162,653 (GRCm39)	probably null	Het
Boc	GAC	G	16: 44,316,796 (GRCm39)	probably null	Het
Cacna1f	GAG	GAGAAG	X: 7,486,299 (GRCm39)	probably benign	Het
Cacna1f	GAG	GAGAAG	X: 7,486,302 (GRCm39)	probably benign	Het
Catsper2	ATCGCTTTCCTCGTTTTCG	ATCG	2: 121,228,207 (GRCm39)	probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,750 (GRCm39)	probably null	Het
E4f1	CGC	CGCGGC	17: 24,674,164 (GRCm39)	probably benign	Het
Eps8	TCGCTC	TCGCTCGCTC	6: 137,494,061 (GRCm39)	probably benign	Het
Ermn	AACT	AACTACT	2: 57,938,078 (GRCm39)	probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,824,352 (GRCm39)	probably null	Het
Gab3	CTTCTT	CTTATTCTT	X: 74,043,606 (GRCm39)	probably null	Het
Gab3	TCT	TCTGCT	X: 74,043,623 (GRCm39)	probably benign	Het
Gabre	CTC	CTCTGGGTC	X: 71,314,369 (GRCm39)	probably benign	Het
Gm8369	TG	TGGGTGAG	19: 11,489,137 (GRCm39)	probably null	Het
Hsdl2	CAGCTGCAG	CAGCTGCAGCAGCAGCCATAGCTGCAG	4: 59,610,650 (GRCm39)	probably null	Het
Iqcf4	TTTTCCTTTT	TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT	9: 106,447,813 (GRCm39)	probably benign	Het
Kmt2e	TTT	TTTTATT	5: 23,683,507 (GRCm39)	probably benign	Het
Kri1	CTCCTCCT	C	9: 21,192,367 (GRCm39)	probably null	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,019,979 (GRCm39)	probably benign	Het
Lce1m	GTTGCTGCCACTG	GTTGCTGCCACTGTTGCTGCCACTG	3: 92,925,438 (GRCm39)	probably benign	Het
Loricrin	CGCCGCCT	C	3: 91,989,206 (GRCm39)	probably null	Het
Luzp1	A	AGGTGGCCTCTTCAGG	4: 136,270,507 (GRCm39)	probably benign	Het
Lypd8	CCAACA	CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA	11: 58,281,065 (GRCm39)	probably benign	Het
Mn1	CAG	CAGGAG	5: 111,567,577 (GRCm39)	probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,012 (GRCm39)	probably benign	Het
Nefh	GGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,029 (GRCm39)	probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)	probably null	Het
Nusap1	AGAT	AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT	2: 119,458,059 (GRCm39)	probably benign	Het
Nusap1	CAGTGAGGAGCAAGCTGAGA	CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA	2: 119,458,072 (GRCm39)	probably benign	Het
Phf20	CCCCCC	CCCCCCGCCCCC	2: 156,146,543 (GRCm39)	probably benign	Het
Ppp1r8	TCTCTCTCAC	TC	4: 132,557,926 (GRCm39)	probably benign	Het
Prr5l	GCCTC	G	2: 101,627,918 (GRCm39)	probably null	Het
Rbm12	CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG	CGG	2: 155,938,050 (GRCm39)	probably null	Het
Rpgrip1	GA	GAGTA	14: 52,386,855 (GRCm39)	probably null	Het
Spmap2l	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,164,248 (GRCm39)	probably benign	Het
Tanc1	GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA	G	2: 59,673,613 (GRCm39)	probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,022 (GRCm39)	probably benign	Het
Tgoln1	T	TTGTCTTGTCAGAATCACCTCCTGG	6: 72,593,019 (GRCm39)	probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)	probably benign	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,139 (GRCm39)	probably benign	Het
Triobp	CAGGACT	CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT	15: 78,851,239 (GRCm39)	probably benign	Het
Zfhx3	AACAGCAGC	AACAGCAGCTACAGCAGC	8: 109,682,728 (GRCm39)	probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,910,188 (GRCm39)	probably null	Het

Other mutations in Gm7579

Allele	Source	Chr	Coord	Type	Predicted Effect
R0332:Gm7579	UTSW	7	141,766,112 (GRCm39)	missense	unknown
R0594:Gm7579	UTSW	7	141,766,121 (GRCm39)	missense	unknown
R1605:Gm7579	UTSW	7	141,765,603 (GRCm39)	missense	unknown
R1804:Gm7579	UTSW	7	141,765,675 (GRCm39)	missense	unknown
R4860:Gm7579	UTSW	7	141,765,645 (GRCm39)	missense	unknown
R4860:Gm7579	UTSW	7	141,765,645 (GRCm39)	missense	unknown
R6249:Gm7579	UTSW	7	141,765,743 (GRCm39)	missense	unknown
R7823:Gm7579	UTSW	7	141,766,307 (GRCm39)	missense	unknown
R8143:Gm7579	UTSW	7	141,766,163 (GRCm39)	nonsense	probably null
R8341:Gm7579	UTSW	7	141,765,856 (GRCm39)	nonsense	probably null
R8543:Gm7579	UTSW	7	141,765,782 (GRCm39)	small deletion	probably benign
R9435:Gm7579	UTSW	7	141,765,782 (GRCm39)	small deletion	probably benign
R9547:Gm7579	UTSW	7	141,765,736 (GRCm39)	frame shift	probably null
R9549:Gm7579	UTSW	7	141,765,736 (GRCm39)	frame shift	probably null
Z1176:Gm7579	UTSW	7	141,765,678 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGGCCAATCAGTCAACTAGG -3'
(R):5'- AGGGTTTGCAACAGCTGGAC -3'

Sequencing Primer
(F):5'- AGAACCATGACCTGCTGTG -3'
(R):5'- CTGGACTGACAGCAGCAG -3'

Posted On

2019-12-04