Mutagenetix > Incidental Mutation

Incidental Mutation 'R6608:AK157302'

526432

Institutional Source

Beutler Lab

Gene Symbol

AK157302

Ensembl Gene

ENSMUSG00000078139

Gene Name

cDNA sequence AK157302

Synonyms

MMRRC Submission

044731-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R6608 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21679393-21681307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21679794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 107 (S107P)

Ref Sequence

ENSEMBL: ENSMUSP00000100547 (fasta)

Gene Model

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

AlphaFold

I3ITR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000104942
AA Change: S107P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100547
Gene: ENSMUSG00000078139
AA Change: S107P

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	C	5: 121,770,555 (GRCm39)	T571A	probably benign	Het
Adamts18	A	T	8: 114,501,911 (GRCm39)	Y317N	probably damaging	Het
Adgrg5	T	C	8: 95,668,348 (GRCm39)	F470S	probably damaging	Het
Ankrd31	A	G	13: 96,969,288 (GRCm39)	Y975C	probably damaging	Het
Ankrd37	C	T	8: 46,452,891 (GRCm39)		probably benign	Het
Aox1	T	C	1: 58,096,705 (GRCm39)	Y267H	probably benign	Het
Cdan1	A	C	2: 120,557,161 (GRCm39)	I555R	possibly damaging	Het
Clns1a	A	G	7: 97,365,675 (GRCm39)	T226A	probably benign	Het
Col18a1	C	T	10: 76,948,628 (GRCm39)		probably benign	Het
Col5a3	C	A	9: 20,685,315 (GRCm39)	V1454L	unknown	Het
Coq6	G	A	12: 84,418,922 (GRCm39)	V309I	probably benign	Het
Decr2	C	T	17: 26,302,858 (GRCm39)	V173M	probably benign	Het
Dmgdh	G	A	13: 93,843,252 (GRCm39)	G363S	possibly damaging	Het
Dnah7a	A	T	1: 53,564,277 (GRCm39)	D1927E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epm2a	T	C	10: 11,266,731 (GRCm39)		probably null	Het
Gm1979	T	A	5: 26,206,094 (GRCm39)	H162L	probably benign	Het
Irag1	A	T	7: 110,487,758 (GRCm39)	S486T	probably damaging	Het
Knl1	A	G	2: 118,917,093 (GRCm39)	N1759D	probably damaging	Het
Man1b1	T	A	2: 25,233,263 (GRCm39)	V212E	probably damaging	Het
Marf1	A	G	16: 13,950,578 (GRCm39)	L936S	probably damaging	Het
Mki67	G	A	7: 135,300,090 (GRCm39)	T1648I	probably benign	Het
Or2n1c	T	C	17: 38,519,370 (GRCm39)	V78A	probably damaging	Het
Or3a1b	T	C	11: 74,012,454 (GRCm39)	V113A	probably benign	Het
Or5d40	A	G	2: 88,016,049 (GRCm39)	Y276C	possibly damaging	Het
Or6n2	A	G	1: 173,897,295 (GRCm39)	M144V	probably benign	Het
Parp11	A	G	6: 127,454,811 (GRCm39)	I110V	possibly damaging	Het
Pcdhb5	A	G	18: 37,454,876 (GRCm39)	T419A	probably damaging	Het
Pitpnm1	A	G	19: 4,160,875 (GRCm39)	D838G	probably damaging	Het
Rbm26	T	A	14: 105,389,934 (GRCm39)	N230I	probably damaging	Het
Rnf20	C	T	4: 49,650,051 (GRCm39)	S540F	probably benign	Het
Rsad1	T	C	11: 94,433,435 (GRCm39)	D417G	probably damaging	Het
Serpina3c	A	T	12: 104,115,883 (GRCm39)	N220K	probably benign	Het
Slc6a19	A	G	13: 73,832,091 (GRCm39)	L495P	probably damaging	Het
Stard7	A	T	2: 127,132,715 (GRCm39)	K194N	probably damaging	Het
Tinagl1	A	G	4: 130,066,782 (GRCm39)	M105T	probably benign	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyk2	G	T	9: 21,019,312 (GRCm39)	Q1014K	probably benign	Het
Usp10	C	T	8: 120,675,161 (GRCm39)	R461W	probably benign	Het
Wsb1	C	T	11: 79,131,188 (GRCm39)	E403K	probably benign	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het
Zp1	C	T	19: 10,896,344 (GRCm39)	C127Y	possibly damaging	Het
Zzef1	T	A	11: 72,803,652 (GRCm39)	F2466L	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
R2378:AK157302	UTSW	13	21,679,732 (GRCm39)	missense	possibly damaging	0.69
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
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'- TGAAAGTTGGCGTGCGAAC -3'
(R):5'- AACTCTTCCCACATTGGCTTGG -3'

Sequencing Primer
(F):5'- ACCAGGGGCTGTAATGGC -3'
(R):5'- TATTTTCACCCACGAGGCAGG -3'

Posted On

2018-06-25