Mutagenetix > Incidental Mutation

Incidental Mutation 'R2986:AI661453'

257808

Institutional Source

Beutler Lab

Gene Symbol

AI661453

Ensembl Gene

ENSMUSG00000034382

Gene Name

expressed sequence AI661453

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R2986 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47747564-47781563 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 47777697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 474 (C474*)

Ref Sequence

ENSEMBL: ENSMUSP00000120133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037701] [ENSMUST00000150819]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037701

SMART Domains

Protein: ENSMUSP00000045345
Gene: ENSMUSG00000034382

Domain	Start	End	E-Value	Type
low complexity region	140	151	N/A	INTRINSIC
low complexity region	157	180	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000150819
AA Change: C474*

SMART Domains

Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382
AA Change: C474*

Domain	Start	End	E-Value	Type
low complexity region	140	151	N/A	INTRINSIC
low complexity region	157	237	N/A	INTRINSIC
low complexity region	294	312	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
low complexity region	354	364	N/A	INTRINSIC
low complexity region	384	423	N/A	INTRINSIC
low complexity region	429	444	N/A	INTRINSIC
low complexity region	522	535	N/A	INTRINSIC
low complexity region	612	627	N/A	INTRINSIC
internal_repeat_1	628	654	6.24e-9	PROSPERO
low complexity region	656	671	N/A	INTRINSIC
internal_repeat_1	688	714	6.24e-9	PROSPERO
low complexity region	853	863	N/A	INTRINSIC
low complexity region	976	1016	N/A	INTRINSIC
low complexity region	1147	1154	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap18	A	G	10: 26,730,903 (GRCm39)	T122A	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Bbs4	A	G	9: 59,248,478 (GRCm39)	L75P	probably damaging	Het
Bltp3b	T	A	10: 89,641,931 (GRCm39)	V1034E	probably benign	Het
Cenpl	C	T	1: 160,911,037 (GRCm39)		probably benign	Het
Cnnm4	G	A	1: 36,511,453 (GRCm39)	R227H	possibly damaging	Het
Dipk2a	C	A	9: 94,402,570 (GRCm39)	C364F	probably damaging	Het
Eif4g2	T	C	7: 110,677,690 (GRCm39)	E141G	probably damaging	Het
Fat3	A	G	9: 15,903,424 (GRCm39)	C3024R	probably damaging	Het
Gss	T	C	2: 155,429,363 (GRCm39)	D43G	probably benign	Het
Hmcn2	A	T	2: 31,251,010 (GRCm39)	D824V	probably damaging	Het
Slc15a1	C	T	14: 121,727,221 (GRCm39)	D116N	probably benign	Het
Slc34a1	A	G	13: 55,551,142 (GRCm39)	D190G	probably benign	Het
Ttll11	G	A	2: 35,707,750 (GRCm39)	S519L	probably benign	Het
Wdr49	T	C	3: 75,289,347 (GRCm39)	M184V	probably benign	Het
Zfp384	T	A	6: 125,001,859 (GRCm39)	V113E	possibly damaging	Het

Other mutations in AI661453

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01758:AI661453	APN	17	47,777,548 (GRCm39)	intron	probably benign
IGL01995:AI661453	APN	17	47,779,442 (GRCm39)	intron	probably benign
IGL02171:AI661453	APN	17	47,777,921 (GRCm39)	intron	probably benign
IGL02411:AI661453	APN	17	47,778,263 (GRCm39)	intron	probably benign
IGL02422:AI661453	APN	17	47,778,017 (GRCm39)	intron	probably benign
IGL02609:AI661453	APN	17	47,779,297 (GRCm39)	intron	probably benign
IGL02888:AI661453	APN	17	47,778,329 (GRCm39)	intron	probably benign
IGL03024:AI661453	APN	17	47,757,513 (GRCm39)	missense	probably damaging	1.00
R0077:AI661453	UTSW	17	47,780,287 (GRCm39)	intron	probably benign
R0092:AI661453	UTSW	17	47,778,440 (GRCm39)	intron	probably benign
R0144:AI661453	UTSW	17	47,780,224 (GRCm39)	intron	probably benign
R0330:AI661453	UTSW	17	47,757,571 (GRCm39)	missense	probably damaging	1.00
R0590:AI661453	UTSW	17	47,777,999 (GRCm39)	intron	probably benign
R0839:AI661453	UTSW	17	47,747,752 (GRCm39)	missense	probably null	0.97
R1350:AI661453	UTSW	17	47,778,853 (GRCm39)	nonsense	probably null
R1436:AI661453	UTSW	17	47,777,627 (GRCm39)	intron	probably benign
R1439:AI661453	UTSW	17	47,777,587 (GRCm39)	intron	probably benign
R1643:AI661453	UTSW	17	47,778,791 (GRCm39)	intron	probably benign
R1994:AI661453	UTSW	17	47,777,959 (GRCm39)	intron	probably benign
R2145:AI661453	UTSW	17	47,777,023 (GRCm39)	intron	probably benign
R4398:AI661453	UTSW	17	47,779,042 (GRCm39)	intron	probably benign
R4809:AI661453	UTSW	17	47,778,112 (GRCm39)	intron	probably benign
R4913:AI661453	UTSW	17	47,779,480 (GRCm39)	nonsense	probably null
R4972:AI661453	UTSW	17	47,777,324 (GRCm39)	intron	probably benign
R6430:AI661453	UTSW	17	47,777,722 (GRCm39)	intron	probably benign
R6687:AI661453	UTSW	17	47,777,927 (GRCm39)	intron	probably benign
R7494:AI661453	UTSW	17	47,779,105 (GRCm39)	missense	unknown
R7598:AI661453	UTSW	17	47,777,045 (GRCm39)	missense	unknown
R7635:AI661453	UTSW	17	47,778,676 (GRCm39)	missense	unknown
R7753:AI661453	UTSW	17	47,778,439 (GRCm39)	nonsense	probably null
R7920:AI661453	UTSW	17	47,779,331 (GRCm39)	missense	unknown
R7974:AI661453	UTSW	17	47,777,006 (GRCm39)	missense	unknown
R8022:AI661453	UTSW	17	47,777,161 (GRCm39)	missense	unknown
R8489:AI661453	UTSW	17	47,777,254 (GRCm39)	intron	probably benign
R8771:AI661453	UTSW	17	47,777,683 (GRCm39)	missense	unknown
R9316:AI661453	UTSW	17	47,747,832 (GRCm39)	missense	probably benign	0.05
R9596:AI661453	UTSW	17	47,780,411 (GRCm39)	missense	unknown
R9743:AI661453	UTSW	17	47,780,240 (GRCm39)	missense	unknown
R9766:AI661453	UTSW	17	47,757,570 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCCAGACAAATGGACAAGCTGG -3'
(R):5'- CTGGGCAATGTAGTCCACAG -3'

Sequencing Primer
(F):5'- TGCCCTCTACCGAGCTG -3'
(R):5'- TAGTCCACAGGGGGTAGGACC -3'

Posted On

2015-01-11