Mutagenetix > Incidental Mutation

Incidental Mutation 'R2378:AK157302'

248360

Institutional Source

Beutler Lab

Gene Symbol

AK157302

Ensembl Gene

ENSMUSG00000078139

Gene Name

cDNA sequence AK157302

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R2378 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21679393-21681307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21679732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 86 (I86T)

Ref Sequence

ENSEMBL: ENSMUSP00000100547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104942]

AlphaFold

I3ITR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000104942
AA Change: I86T

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100547
Gene: ENSMUSG00000078139
AA Change: I86T

Domain	Start	End	E-Value	Type
Pfam:Fe-S_biosyn	23	125	7e-24	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1cl	A	T	1: 65,061,147 (GRCm39)	M124K	probably benign	Het
Asap2	T	C	12: 21,304,319 (GRCm39)	L745P	possibly damaging	Het
B3gnt9	G	A	8: 105,981,116 (GRCm39)	R91C	probably damaging	Het
Capg	C	T	6: 72,532,474 (GRCm39)	P13L	probably benign	Het
Eif3c	C	T	7: 126,151,497 (GRCm39)	R609H	probably damaging	Het
Ephb3	A	G	16: 21,036,993 (GRCm39)	H152R	probably benign	Het
Gbp9	T	C	5: 105,228,042 (GRCm39)	D580G	probably benign	Het
Iars2	A	G	1: 185,059,918 (GRCm39)	Y97H	probably damaging	Het
Ip6k2	A	G	9: 108,673,500 (GRCm39)		probably null	Het
Itih2	T	A	2: 10,099,698 (GRCm39)	D907V	probably damaging	Het
Lrrc37	A	G	11: 103,510,537 (GRCm39)		probably benign	Het
Msh4	A	G	3: 153,569,114 (GRCm39)	C732R	probably damaging	Het
Mtss2	T	C	8: 111,464,981 (GRCm39)	F474L	probably damaging	Het
Nbeal2	T	C	9: 110,459,876 (GRCm39)	E1175G	probably damaging	Het
Pgm3	A	T	9: 86,444,720 (GRCm39)	C272S	probably damaging	Het
R3hcc1l	T	A	19: 42,551,912 (GRCm39)	I303N	probably damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Spsb3	A	G	17: 25,105,924 (GRCm39)		probably benign	Het
Tgfbr2	G	A	9: 115,959,018 (GRCm39)	T132I	probably benign	Het
Tpp2	A	T	1: 44,038,925 (GRCm39)	E223V	probably damaging	Het
Ttn	T	A	2: 76,719,794 (GRCm39)		probably benign	Het
Vmn2r102	T	G	17: 19,914,930 (GRCm39)	L832V	probably damaging	Het

Other mutations in AK157302

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:AK157302	APN	13	21,679,471 (GRCm39)	utr 5 prime	probably benign
Benjamin	UTSW	13	21,679,833 (GRCm39)	missense	possibly damaging	0.84
R0610:AK157302	UTSW	13	21,679,833 (GRCm39)	missense	possibly damaging	0.84
R2155:AK157302	UTSW	13	21,679,827 (GRCm39)	nonsense	probably null
R4291:AK157302	UTSW	13	21,679,715 (GRCm39)	missense	probably damaging	1.00
R4477:AK157302	UTSW	13	21,679,861 (GRCm39)	missense	possibly damaging	0.51
R5887:AK157302	UTSW	13	21,679,579 (GRCm39)	missense	possibly damaging	0.95
R6608:AK157302	UTSW	13	21,679,794 (GRCm39)	missense	probably damaging	0.99
R9300:AK157302	UTSW	13	21,679,537 (GRCm39)	missense	probably benign	0.09
R9784:AK157302	UTSW	13	21,679,768 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGAGAGAAGCTGAGTCCC -3'
(R):5'- GATTTCTTCAGGAAGCGCCG -3'

Sequencing Primer
(F):5'- AAGCTGAGTCCCCACGCTC -3'
(R):5'- GAGGCAGACCCAGCTCTC -3'

Posted On

2014-11-11