Mutagenetix > Incidental Mutation

Incidental Mutation 'RF054:Gm8369'

605219

Institutional Source

Beutler Lab

Gene Symbol

Gm8369

Ensembl Gene

ENSMUSG00000058470

Gene Name

predicted gene 8369

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

RF054 (G1)

Quality Score

182.468

Status

Not validated

Chromosome

Chromosomal Location

11485938-11512577 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

GTGT to GTGTCTGT at 11511764 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079855] [ENSMUST00000163078] [ENSMUST00000186423] [ENSMUST00000188633]

AlphaFold

E9PZI3

Predicted Effect

probably null
Transcript: ENSMUST00000079855

SMART Domains

Protein: ENSMUSP00000132521
Gene: ENSMUSG00000058470

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
low complexity region	130	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163078

SMART Domains

Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677

Domain	Start	End	E-Value	Type
Pfam:CD20	47	204	4.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186423

SMART Domains

Protein: ENSMUSP00000140897
Gene: ENSMUSG00000058470

Domain	Start	End	E-Value	Type
Pfam:CD20	1	62	5.7e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000188633

SMART Domains

Protein: ENSMUSP00000141067
Gene: ENSMUSG00000058470

Domain	Start	End	E-Value	Type
Pfam:CD20	2	48	3.7e-9	PFAM
low complexity region	130	145	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
Ankhd1	CGGC	CGGCGGAGGC	18: 36,560,929	probably benign	Het
Bean1	CT	C	8: 104,182,032	probably null	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 120,072,968	probably benign	Het
Chga	AGC	AGCTGC	12: 102,561,423	probably benign	Het
Dmkn	GAAGTGGTGGAAGTGGTGG	GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG	7: 30,767,188	probably benign	Het
Dnmt1	CCTCGTT	CCTCGTTTTGGGGGCGGAGCACAGTTCCTAGCTCGTT	9: 20,910,139	probably null	Het
Epha8	CCTGGGC	CC	4: 136,933,037	probably benign	Het
F830016B08Rik	AAAAAA	AAAAAAAAA	18: 60,299,938	probably benign	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416	probably benign	Het
Lce1m	CAC	CACCGCTGCGGCGAC	3: 93,018,298	probably benign	Het
Lrmp	ATTG	ATTGAGCACTTTG	6: 145,173,788	probably benign	Het
Lypd8	TC	TCGCCTCTGTTACCCCACAAATCACCAACACCTCCCCC	11: 58,390,251	probably benign	Het
Nefh	GGGACT	GGGACTGGGCCTCACCTGCGGACT	11: 4,941,048	probably benign	Het
Prp2	CTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCT	C	6: 132,600,521	probably null	Het
Rassf6	TCACTCATGGTCCTGTAGAGCAATGGGGATTC	TCACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCCCACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,911	probably benign	Het
Rassf6	TGTAGAGCAATGGGGATTC	TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC	5: 90,608,924	probably benign	Het
Rassf6	CAATGGGGATTC	CAATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGAAATGGGGATTC	5: 90,608,931	probably benign	Het
Sbp	GATGCTGACAACAAA	GATGCTGACAACAAATATGCTGACAACAAA	17: 23,945,371	probably benign	Het
Six3	GCG	GCGCCG	17: 85,621,355	probably benign	Het
Tfeb	CAG	CAGTAG	17: 47,786,098	probably null	Het
Thbs1	TGACCTTAG	TG	2: 118,122,865	probably benign	Het
Tob1	GCA	GCACCA	11: 94,214,461	probably benign	Het
Ubqln3	AACAC	A	7: 104,141,178	probably null	Het
Zfhx3	AACAGCAGC	AACAGCAGCCACAGCAGC	8: 108,956,096	probably benign	Het

Other mutations in Gm8369

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1013:Gm8369	UTSW	19	11511783	frame shift	probably null
R4192:Gm8369	UTSW	19	11502232	missense	probably damaging	0.97
R5445:Gm8369	UTSW	19	11504806	missense	possibly damaging	0.55
R5809:Gm8369	UTSW	19	11504884	intron	probably benign
R6258:Gm8369	UTSW	19	11511609	missense	possibly damaging	0.93
R6791:Gm8369	UTSW	19	11511836	unclassified	probably benign
R9565:Gm8369	UTSW	19	11511651	missense	probably benign	0.00
R9683:Gm8369	UTSW	19	11511733	missense	probably damaging	0.97
R9778:Gm8369	UTSW	19	11511764	frame shift	probably null
RF004:Gm8369	UTSW	19	11511754	small insertion	probably benign
RF006:Gm8369	UTSW	19	11511764	small insertion	probably benign
RF008:Gm8369	UTSW	19	11511754	frame shift	probably null
RF016:Gm8369	UTSW	19	11511754	frame shift	probably null
RF017:Gm8369	UTSW	19	11511742	frame shift	probably null
RF018:Gm8369	UTSW	19	11511742	frame shift	probably null
RF025:Gm8369	UTSW	19	11511773	frame shift	probably null
RF028:Gm8369	UTSW	19	11511773	nonsense	probably null
RF032:Gm8369	UTSW	19	11511778	small insertion	probably benign
RF033:Gm8369	UTSW	19	11511778	small insertion	probably benign
RF035:Gm8369	UTSW	19	11511773	small insertion	probably benign
RF036:Gm8369	UTSW	19	11511778	small insertion	probably benign
RF037:Gm8369	UTSW	19	11511782	small insertion	probably benign
RF039:Gm8369	UTSW	19	11511758	small insertion	probably benign
RF039:Gm8369	UTSW	19	11511782	small insertion	probably benign
RF041:Gm8369	UTSW	19	11511758	small insertion	probably benign
RF042:Gm8369	UTSW	19	11511773	frame shift	probably null
RF042:Gm8369	UTSW	19	11511778	small insertion	probably benign
RF055:Gm8369	UTSW	19	11511748	frame shift	probably null
Z1176:Gm8369	UTSW	19	11511624	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAAGCACTGACTATACTGGGTG -3'
(R):5'- TGCCAATTCAATGCCCTTTG -3'

Sequencing Primer
(F):5'- CTGACTATACTGGGTGACTCAATGAC -3'
(R):5'- ATTCAATGCCCTTTGTACATTAAATG -3'

Posted On

2019-12-04