Mutagenetix > Incidental Mutation

Incidental Mutation 'RF031:Gm5475'

604378

Institutional Source

Beutler Lab

Gene Symbol

Gm5475

Ensembl Gene

ENSMUSG00000087444

Gene Name

predicted gene 5475

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

RF031 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

100321074-100326031 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGTGGAAGGAAAG to GG at 100325029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000123461] [ENSMUST00000132119] [ENSMUST00000136168] [ENSMUST00000138843] [ENSMUST00000148928] [ENSMUST00000154331] [ENSMUST00000154676]

AlphaFold

D3YV11

Predicted Effect

probably benign
Transcript: ENSMUST00000023774

SMART Domains

Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:Nramp	90	474	1.1e-122	PFAM
transmembrane domain	505	527	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123461

SMART Domains

Protein: ENSMUSP00000119056
Gene: ENSMUSG00000023030

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:Nramp	90	170	2.9e-31	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000132119

SMART Domains

Protein: ENSMUSP00000114783
Gene: ENSMUSG00000087444

Domain	Start	End	E-Value	Type
low complexity region	23	33	N/A	INTRINSIC
low complexity region	71	83	N/A	INTRINSIC
low complexity region	144	168	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136168

Predicted Effect

probably benign
Transcript: ENSMUST00000138843

SMART Domains

Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:Nramp	90	474	4.7e-118	PFAM
transmembrane domain	505	527	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148928

SMART Domains

Protein: ENSMUSP00000114462
Gene: ENSMUSG00000087444

Domain	Start	End	E-Value	Type
low complexity region	23	33	N/A	INTRINSIC
low complexity region	71	83	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154331

SMART Domains

Protein: ENSMUSP00000115357
Gene: ENSMUSG00000023030

Domain	Start	End	E-Value	Type
low complexity region	41	56	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154676

SMART Domains

Protein: ENSMUSP00000115019
Gene: ENSMUSG00000023030

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
AI837181	GCG	GCGCCG	19: 5,475,246 (GRCm39)	probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTC	7: 80,162,654 (GRCm39)	probably benign	Het
Blm	CCTCCTCCTCC	CCTCCTCCTCCTGCTCCTCCTCC	7: 80,162,671 (GRCm39)	probably benign	Het
Cyb5r4	GGGA	GGGATGTGACAGACACACTGCCCATGGA	9: 86,922,498 (GRCm39)	probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGACTGC	4: 129,503,444 (GRCm39)	probably benign	Het
Dclre1a	CTTTGCT	C	19: 56,532,564 (GRCm39)	probably benign	Het
Dctn6	AAATCATGGCTTGCGATCT	A	8: 34,572,236 (GRCm39)	probably null	Het
Elovl5	G	T	9: 77,888,755 (GRCm39)	probably null	Het
Ermn	AACT	AACTACT	2: 57,938,078 (GRCm39)	probably benign	Het
Fbrsl1	G	GCGTGTGCTGGTC	5: 110,526,017 (GRCm39)	probably benign	Het
Fgd6	ATT	A	10: 93,880,187 (GRCm39)	probably null	Het
Flywch1	TCACTCACCCACTCCTGGTGT	TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT	17: 23,981,132 (GRCm39)	probably null	Het
Gab3	TCT	TCTGCT	X: 74,043,602 (GRCm39)	probably benign	Het
Gab3	TTC	TTCATC	X: 74,043,607 (GRCm39)	probably benign	Het
Gab3	CTT	CTTATT	X: 74,043,603 (GRCm39)	probably null	Het
Gm11060	CTGTGTG	CTG	2: 104,922,385 (GRCm39)	probably null	Het
Heatr3	TAT	TATTAAT	8: 88,883,085 (GRCm39)	probably benign	Het
Iqcf4	TTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTT	9: 106,447,814 (GRCm39)	probably benign	Het
Ivl	GCTGCTGCTGCTGC	G	3: 92,479,625 (GRCm39)	probably null	Het
Kif12	GGC	GGCCTCCACCCGGCGTGC	4: 63,089,662 (GRCm39)	probably benign	Het
L1td1	AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG	AGGAGGAGGAG	4: 98,625,026 (GRCm39)	probably benign	Het
Lca5l	CCCTGGCCCCGGCC	CCC	16: 95,960,504 (GRCm39)	probably null	Het
Loricrin	ATAGCCG	A	3: 91,989,183 (GRCm39)	probably benign	Het
Mapk7	GGGGCA	GGGGCACGGGCA	11: 61,381,060 (GRCm39)	probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)	probably null	Het
Nlrp3	GGGTA	G	11: 59,449,378 (GRCm39)	probably null	Het
Nolc1	CAGCAGC	CAGCAGCAGGAGCAGC	19: 46,069,810 (GRCm39)	probably benign	Het
Pdik1l	TTTT	TTTTGTTTTTGATTT	4: 134,006,685 (GRCm39)	probably null	Het
Phldb3	CGCCCCCG	C	7: 24,325,918 (GRCm39)	probably null	Het
Setd1a	GGTGGTAGT	GGTGGTAGTAGTGGTAGT	7: 127,384,483 (GRCm39)	probably benign	Het
Spmap2l	CCCCAGTCCCGCAAGGCCAG	CCCCAGTCCCGCAAGGCCAGCGATCCTACCCAGTCCCGCAAGGCCAG	5: 77,164,257 (GRCm39)	probably benign	Het
Strn	CTTACCCCAGTC	CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGATCCATTACCCCAGTC	17: 78,984,706 (GRCm39)	probably null	Het
Tcof1	TTCCCAGAGATCCCCTTGGC	TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTATCCCAGAGATCCCCTTGGC	18: 60,966,637 (GRCm39)	probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,968,817 (GRCm39)	probably benign	Het
Tedc2	AGGAACCCT	AGGAACCCTGGAACCCT	17: 24,435,213 (GRCm39)	probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)	probably benign	Het
Zfhx3	C	CCGCAGCAAA	8: 109,682,730 (GRCm39)	probably benign	Het
Zfp335	TCGTCGTC	TCGTCGTCGTC	2: 164,749,383 (GRCm39)	probably benign	Het

Other mutations in Gm5475

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01139:Gm5475	APN	15	100,322,096 (GRCm39)	unclassified	probably benign
R0037:Gm5475	UTSW	15	100,322,083 (GRCm39)	nonsense	probably null
R2219:Gm5475	UTSW	15	100,322,094 (GRCm39)	unclassified	probably benign
R4258:Gm5475	UTSW	15	100,322,117 (GRCm39)	unclassified	probably benign
R6934:Gm5475	UTSW	15	100,325,007 (GRCm39)	unclassified	probably benign
R7269:Gm5475	UTSW	15	100,324,890 (GRCm39)	missense	unknown
R8093:Gm5475	UTSW	15	100,321,893 (GRCm39)	missense	unknown
R8776:Gm5475	UTSW	15	100,324,892 (GRCm39)	missense	unknown
R8776-TAIL:Gm5475	UTSW	15	100,324,892 (GRCm39)	missense	unknown
R9789:Gm5475	UTSW	15	100,324,881 (GRCm39)	missense	unknown
RF020:Gm5475	UTSW	15	100,325,030 (GRCm39)	frame shift	probably null
RF025:Gm5475	UTSW	15	100,325,033 (GRCm39)	frame shift	probably null
RF030:Gm5475	UTSW	15	100,325,037 (GRCm39)	frame shift	probably null
RF033:Gm5475	UTSW	15	100,325,025 (GRCm39)	frame shift	probably null
RF047:Gm5475	UTSW	15	100,325,037 (GRCm39)	frame shift	probably null
X0028:Gm5475	UTSW	15	100,322,120 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCATCTTTTCCTGGAAAATCG -3'
(R):5'- AGTGAGAAATGCTTGCAATTCC -3'

Sequencing Primer
(F):5'- ATCGGAAAATCGTTCTTCAGGG -3'
(R):5'- CAACCAGAGGGATTTTTGCC -3'

Posted On

2019-12-04