Mutagenetix > Incidental Mutation

Incidental Mutation 'R5171:AA986860'

398666

Institutional Source

Beutler Lab

Gene Symbol

AA986860

Ensembl Gene

ENSMUSG00000042510

Gene Name

expressed sequence AA986860

Synonyms

MMRRC Submission

042751-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5171 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130659713-130672359 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130670584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 269 (Q269K)

Ref Sequence

ENSEMBL: ENSMUSP00000046172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039323]

AlphaFold

Q8BI29

Predicted Effect

probably benign
Transcript: ENSMUST00000039323
AA Change: Q269K

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: Q269K

Domain	Start	End	E-Value	Type
Pfam:SARG	33	606	1e-235	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190859

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,128,547 (GRCm39)	I136N	possibly damaging	Het
Adtrp	A	G	13: 41,931,039 (GRCm39)	S183P	probably damaging	Het
Atp11b	C	T	3: 35,887,086 (GRCm39)	T690I	probably damaging	Het
Bcl2l12	G	A	7: 44,640,818 (GRCm39)		probably benign	Het
Btnl7-ps	T	A	17: 34,752,503 (GRCm39)		noncoding transcript	Het
Ccl12	T	C	11: 81,993,460 (GRCm39)	C33R	probably damaging	Het
Cdc25a	T	A	9: 109,706,229 (GRCm39)	S57R	probably benign	Het
Coro2a	T	A	4: 46,542,372 (GRCm39)		probably benign	Het
Cpne6	T	C	14: 55,749,605 (GRCm39)	V55A	possibly damaging	Het
Ddn	A	G	15: 98,704,207 (GRCm39)	S362P	possibly damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Donson	A	G	16: 91,478,181 (GRCm39)	V258A	possibly damaging	Het
Gm3336	G	A	8: 71,174,524 (GRCm39)	V163I	probably benign	Het
Gper1	C	T	5: 139,412,413 (GRCm39)	R253C	probably damaging	Het
Gpsm1	T	A	2: 26,217,476 (GRCm39)		probably benign	Het
Hip1	A	G	5: 135,469,156 (GRCm39)	S251P	probably damaging	Het
Ifi214	A	G	1: 173,354,200 (GRCm39)	S157P	possibly damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kntc1	T	C	5: 123,937,907 (GRCm39)	V1535A	probably benign	Het
Mbd3l1	A	G	9: 18,396,430 (GRCm39)	N185S	probably benign	Het
Mnx1	T	C	5: 29,679,851 (GRCm39)	Q252R	unknown	Het
Mroh3	A	T	1: 136,119,394 (GRCm39)	L463Q	possibly damaging	Het
Myom1	T	C	17: 71,406,967 (GRCm39)	V1030A	possibly damaging	Het
Or3a1d	T	C	11: 74,237,640 (GRCm39)	T257A	probably benign	Het
Or5ak20	T	C	2: 85,184,114 (GRCm39)	D52G	probably benign	Het
Or5w1	T	G	2: 87,486,888 (GRCm39)	I126L	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Ranbp17	A	G	11: 33,167,419 (GRCm39)	Y1015H	probably benign	Het
Rasal1	C	T	5: 120,801,829 (GRCm39)	T256I	probably benign	Het
Rexo5	T	A	7: 119,423,002 (GRCm39)	I278N	probably damaging	Het
Rims2	T	A	15: 39,300,499 (GRCm39)	S77T	probably damaging	Het
Sdk2	C	T	11: 113,741,808 (GRCm39)	A804T	probably benign	Het
Slc24a2	T	A	4: 86,914,871 (GRCm39)	I589F	probably benign	Het
Slc25a38	T	A	9: 119,951,181 (GRCm39)	I217K	probably benign	Het
Slc5a7	T	C	17: 54,583,704 (GRCm39)	T529A	probably benign	Het
Spata22	T	A	11: 73,227,034 (GRCm39)	S83T	probably damaging	Het
Spata31e4	A	T	13: 50,854,414 (GRCm39)	T91S	possibly damaging	Het
Stac2	A	T	11: 97,934,324 (GRCm39)	C127S	possibly damaging	Het
Tep1	T	C	14: 51,062,259 (GRCm39)	H2531R	probably benign	Het
Tmem151a	G	T	19: 5,132,061 (GRCm39)	R382S	probably damaging	Het
Trim60	T	C	8: 65,453,176 (GRCm39)	T358A	probably benign	Het
Unc13c	T	A	9: 73,665,236 (GRCm39)	M1048L	probably benign	Het
Usp29	T	C	7: 6,965,074 (GRCm39)	S306P	probably damaging	Het
Zfp26	T	C	9: 20,356,203 (GRCm39)	K35R	probably benign	Het
Zfp462	T	A	4: 55,016,986 (GRCm39)		probably null	Het

Other mutations in AA986860

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:AA986860	APN	1	130,670,573 (GRCm39)	missense	possibly damaging	0.69
IGL01761:AA986860	APN	1	130,670,459 (GRCm39)	missense	possibly damaging	0.70
IGL02557:AA986860	APN	1	130,670,444 (GRCm39)	missense	probably benign	0.02
IGL03003:AA986860	APN	1	130,671,509 (GRCm39)	missense	probably damaging	1.00
IGL02802:AA986860	UTSW	1	130,671,130 (GRCm39)	missense	probably benign	0.00
R0326:AA986860	UTSW	1	130,670,635 (GRCm39)	missense	possibly damaging	0.87
R0483:AA986860	UTSW	1	130,671,562 (GRCm39)	missense	probably damaging	1.00
R0906:AA986860	UTSW	1	130,665,430 (GRCm39)	splice site	probably benign
R0932:AA986860	UTSW	1	130,665,430 (GRCm39)	splice site	probably null
R1522:AA986860	UTSW	1	130,670,831 (GRCm39)	missense	probably damaging	1.00
R1762:AA986860	UTSW	1	130,665,425 (GRCm39)	critical splice donor site	probably null
R1874:AA986860	UTSW	1	130,670,428 (GRCm39)	missense	probably benign	0.06
R2083:AA986860	UTSW	1	130,668,806 (GRCm39)	missense	probably damaging	1.00
R2091:AA986860	UTSW	1	130,670,906 (GRCm39)	missense	probably benign	0.01
R2093:AA986860	UTSW	1	130,671,041 (GRCm39)	missense	probably benign	0.13
R3546:AA986860	UTSW	1	130,668,926 (GRCm39)	splice site	probably benign
R3915:AA986860	UTSW	1	130,670,344 (GRCm39)	missense	probably benign
R4679:AA986860	UTSW	1	130,670,140 (GRCm39)	missense	possibly damaging	0.67
R4703:AA986860	UTSW	1	130,671,092 (GRCm39)	missense	probably benign	0.19
R4890:AA986860	UTSW	1	130,668,725 (GRCm39)	splice site	probably benign
R4988:AA986860	UTSW	1	130,670,447 (GRCm39)	missense	probably damaging	1.00
R5327:AA986860	UTSW	1	130,668,740 (GRCm39)	missense	probably damaging	1.00
R5424:AA986860	UTSW	1	130,670,678 (GRCm39)	missense	probably damaging	1.00
R5763:AA986860	UTSW	1	130,670,768 (GRCm39)	missense	possibly damaging	0.53
R5799:AA986860	UTSW	1	130,668,908 (GRCm39)	nonsense	probably null
R6247:AA986860	UTSW	1	130,670,780 (GRCm39)	missense	possibly damaging	0.78
R7124:AA986860	UTSW	1	130,670,624 (GRCm39)	missense	possibly damaging	0.67
R7747:AA986860	UTSW	1	130,671,284 (GRCm39)	missense	possibly damaging	0.60
Z1176:AA986860	UTSW	1	130,670,728 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TGAGCACAGTTCTCATACCCC -3'
(R):5'- TTTGACAGCCAGTTCTGGGG -3'

Sequencing Primer
(F):5'- GCCAGAAGCTTTCCAGGACATTAG -3'
(R):5'- GATGGCTGTGGAAACTGCTTC -3'

Posted On

2016-07-06