Mutagenetix > Incidental Mutation

Incidental Mutation 'RF025:AY358078'

604136

Institutional Source

Beutler Lab

Gene Symbol

AY358078

Ensembl Gene

ENSMUSG00000050961

Gene Name

cDNA sequence AY358078

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

RF025 (G1)

Quality Score

159.526

Status

Not validated

Chromosome

Chromosomal Location

52037503-52063816 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

CAGGT to CAGGTAGGATAAGGT at 52043046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053821]

AlphaFold

Q6UY53

Predicted Effect

probably null
Transcript: ENSMUST00000053821

SMART Domains

Protein: ENSMUSP00000078129
Gene: ENSMUSG00000050961

Domain	Start	End	E-Value	Type
Pfam:Takusan	91	171	5.5e-26	PFAM
coiled coil region	187	220	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CTGCTG	CTGCTGCATCCTGGGTTGCTG	4: 155,989,559 (GRCm39)		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,475,254 (GRCm39)		probably benign	Het
Arid1b	GCG	GCGTCG	17: 5,045,863 (GRCm39)		probably benign	Het
Arid1b	GGC	GGCTGC	17: 5,045,871 (GRCm39)		probably benign	Het
AY761185	GCACTGTGGGC	G	8: 21,433,918 (GRCm39)		probably null	Het
Bcar1	C	A	8: 112,440,809 (GRCm39)	R395L	possibly damaging	Het
Begain	CGCCGC	CGCCGCGGCCGC	12: 108,999,350 (GRCm39)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,486,296 (GRCm39)		probably null	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,129,715 (GRCm39)		probably benign	Het
Calhm1	C	CTGTGAATGTGGA	19: 47,129,716 (GRCm39)		probably benign	Het
Ccdc170	ACC	ACCCCC	10: 4,511,026 (GRCm39)		probably benign	Het
Cyb5r4	AGGGA	AGGGATGTGACAGTCACACTGCCCTGGGA	9: 86,922,497 (GRCm39)		probably benign	Het
Defb22	GCTGGCCT	GCTGGCCTCTGCGGCAGACCTGGCCT	2: 152,327,743 (GRCm39)		probably benign	Het
Defb22	CTGGC	CTGGCGTTTGCGGCAGAGATGGC	2: 152,327,744 (GRCm39)		probably benign	Het
Dnmt1	GGGCGGAGCACAGTTCCTACCTCGTT	GGGCGGAGCACAGTTCCTACCTCGTTTTGGCGGCGGAGCACAGTTCCTACCTCGTT	9: 20,821,416 (GRCm39)		probably null	Het
Dnmt1	CCTACCTCGTT	CCTACCTCGTTTTGGGGGCGGAGAACAGTTTCTACCTCGTT	9: 20,821,431 (GRCm39)		probably null	Het
Dock4	GTGCCGGTGCCGGT	G	12: 40,894,392 (GRCm39)		probably null	Het
Efhd2	CCGCC	CCGCCGACGCC	4: 141,602,082 (GRCm39)		probably benign	Het
Epha8	CCTGGGC	CC	4: 136,660,348 (GRCm39)		probably benign	Het
Eps8	CTCA	CTCAATCA	6: 137,494,064 (GRCm39)		probably benign	Het
Exd2	CAGCCAGAGC	CAGC	12: 80,522,729 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,614 (GRCm39)		probably benign	Het
Gm5475	GAAGGAAAGGT	G	15: 100,325,033 (GRCm39)		probably null	Het
Gm8369	TGTG	TGTGCGTG	19: 11,489,137 (GRCm39)		probably null	Het
Gpatch3	GGAG	GG	4: 133,305,621 (GRCm39)		probably null	Het
Heatr3	TTAT	TTATGTAT	8: 88,883,084 (GRCm39)		probably benign	Het
Hsdl2	GCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GCAGGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,637 (GRCm39)		probably benign	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 67,875,927 (GRCm39)		probably benign	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,019,979 (GRCm39)		probably benign	Het
Las1l	CTTCCT	CTTCCTATTCCT	X: 94,984,226 (GRCm39)		probably null	Het
Lcmt1	GGC	GGCCGCGGGGCGC	7: 122,969,057 (GRCm39)		probably null	Het
Mamld1	AGC	AGCCGC	X: 70,162,432 (GRCm39)		probably benign	Het
Map1a	AGC	AGCGCCAGCTCCAGCTCCAGCTCCAGCTCCCGC	2: 121,136,775 (GRCm39)		probably benign	Het
Mdc1	CCCCCCCC	CCCCCCCCCCCCCC	17: 36,165,299 (GRCm39)		probably benign	Het
Mn1	CAG	CAGTAG	5: 111,567,571 (GRCm39)		probably null	Het
Morn4	GCAG	GCAGGGAGTCAGTCAG	19: 42,064,550 (GRCm39)		probably null	Het
Muc21	CGGGGTAGGTGTAGATCCTGAGGCAGTGCTGGATGCAGGGGTGGTTGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATGCAG	CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATGCAG	17: 35,933,771 (GRCm39)		probably benign	Het
Nefh	CCTCAGCTGGGGACTTGG	CCTCAGCTGGGGACTTGGGCTCAGCTGGGGACTTGG	11: 4,891,003 (GRCm39)		probably benign	Het
Nefh	GGG	GGGTACTTGTCCTCACCTTGG	11: 4,891,029 (GRCm39)		probably benign	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Het
Pdik1l	CCC	CCCCACC	4: 134,013,905 (GRCm39)		probably null	Het
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Het
Polr1has	CACCACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCACCAC	17: 37,275,940 (GRCm39)		probably benign	Het
Rtbdn	GCGGC	GCGGCAACGGC	8: 85,682,804 (GRCm39)		probably benign	Het
Sh3pxd2b	TGTGCCTGT	TGTGCCTGTGCCTGT	11: 32,373,057 (GRCm39)		probably benign	Het
Slamf6	GAGTATTATTCTTTTGTTTGTTTGTTTGTTTGTTTGTTTACAG	GAG	1: 171,769,149 (GRCm39)		probably benign	Het
Tfeb	GCAACA	GCAACAACA	17: 48,097,013 (GRCm39)		probably benign	Het
Zfp106	CTCCTGGCAGT	CT	2: 120,355,026 (GRCm39)		probably benign	Het

Other mutations in AY358078

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:AY358078	APN	14	52,043,166 (GRCm39)	splice site	probably benign
IGL02053:AY358078	APN	14	52,043,009 (GRCm39)	missense	unknown
IGL02057:AY358078	APN	14	52,057,762 (GRCm39)	missense	unknown
IGL02498:AY358078	APN	14	52,040,944 (GRCm39)	missense	probably benign	0.00
FR4737:AY358078	UTSW	14	52,043,155 (GRCm39)	missense	unknown
R0140:AY358078	UTSW	14	52,063,399 (GRCm39)	missense	probably benign	0.12
R0466:AY358078	UTSW	14	52,043,089 (GRCm39)	missense	unknown
R0496:AY358078	UTSW	14	52,040,989 (GRCm39)	missense	unknown
R1546:AY358078	UTSW	14	52,057,876 (GRCm39)	splice site	probably null
R1793:AY358078	UTSW	14	52,042,051 (GRCm39)	missense	unknown
R1867:AY358078	UTSW	14	52,037,504 (GRCm39)	start codon destroyed	probably null	0.01
R1993:AY358078	UTSW	14	52,063,519 (GRCm39)	missense	probably damaging	1.00
R1994:AY358078	UTSW	14	52,063,519 (GRCm39)	missense	probably damaging	1.00
R1995:AY358078	UTSW	14	52,063,519 (GRCm39)	missense	probably damaging	1.00
R2184:AY358078	UTSW	14	52,063,445 (GRCm39)	missense	probably damaging	1.00
R2322:AY358078	UTSW	14	52,042,147 (GRCm39)	missense	unknown
R2441:AY358078	UTSW	14	52,037,546 (GRCm39)	missense	probably benign	0.00
R3851:AY358078	UTSW	14	52,043,010 (GRCm39)	missense	unknown
R3852:AY358078	UTSW	14	52,043,010 (GRCm39)	missense	unknown
R4600:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4603:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4610:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4611:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4916:AY358078	UTSW	14	52,040,108 (GRCm39)	missense	unknown
R5096:AY358078	UTSW	14	52,063,575 (GRCm39)	missense	probably benign	0.19
R5143:AY358078	UTSW	14	52,040,006 (GRCm39)	missense	unknown
R5609:AY358078	UTSW	14	52,042,065 (GRCm39)	missense	unknown
R5651:AY358078	UTSW	14	52,059,617 (GRCm39)	missense	unknown
R6345:AY358078	UTSW	14	52,063,749 (GRCm39)	missense	probably damaging	1.00
R6988:AY358078	UTSW	14	52,063,644 (GRCm39)	missense	probably damaging	0.99
R7340:AY358078	UTSW	14	52,063,716 (GRCm39)	missense	probably damaging	1.00
R8432:AY358078	UTSW	14	52,059,635 (GRCm39)	missense	unknown
R8684:AY358078	UTSW	14	52,059,597 (GRCm39)	nonsense	probably null
RF002:AY358078	UTSW	14	52,043,050 (GRCm39)	nonsense	probably null
RF017:AY358078	UTSW	14	52,043,050 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGAAGCTAGCTGGGAATCAC -3'
(R):5'- AGTCAATGCCAATGACTCTGAC -3'

Sequencing Primer
(F):5'- TGTGGTTCAGCATCAGGC -3'
(R):5'- AGATACCTACAGGCTCTGCTG -3'

Posted On

2019-12-04