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

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5171 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130731976-130744622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130742847 bp (GRCm38)

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: 36,074,398	I136N	possibly damaging	Het
Adtrp	A	G	13: 41,777,563	S183P	probably damaging	Het
Atp11b	C	T	3: 35,832,937	T690I	probably damaging	Het
Bcl2l12	G	A	7: 44,991,394		probably benign	Het
Btnl7-ps	T	A	17: 34,533,529		noncoding transcript	Het
Ccl12	T	C	11: 82,102,634	C33R	probably damaging	Het
Cdc25a	T	A	9: 109,877,161	S57R	probably benign	Het
Coro2a	T	A	4: 46,542,372		probably benign	Het
Cpne6	T	C	14: 55,512,148	V55A	possibly damaging	Het
Ddn	A	G	15: 98,806,326	S362P	possibly damaging	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Donson	A	G	16: 91,681,293	V258A	possibly damaging	Het
Gm3336	G	A	8: 70,721,875	V163I	probably benign	Het
Gm8765	A	T	13: 50,700,378	T91S	possibly damaging	Het
Gper1	C	T	5: 139,426,658	R253C	probably damaging	Het
Gpsm1	T	A	2: 26,327,464		probably benign	Het
Hip1	A	G	5: 135,440,302	S251P	probably damaging	Het
Ifi214	A	G	1: 173,526,634	S157P	possibly damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kntc1	T	C	5: 123,799,844	V1535A	probably benign	Het
Mbd3l1	A	G	9: 18,485,134	N185S	probably benign	Het
Mnx1	T	C	5: 29,474,853	Q252R	unknown	Het
Mroh3	A	T	1: 136,191,656	L463Q	possibly damaging	Het
Myom1	T	C	17: 71,099,972	V1030A	possibly damaging	Het
Olfr1134	T	G	2: 87,656,544	I126L	possibly damaging	Het
Olfr411	T	C	11: 74,346,814	T257A	probably benign	Het
Olfr988	T	C	2: 85,353,770	D52G	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Ranbp17	A	G	11: 33,217,419	Y1015H	probably benign	Het
Rasal1	C	T	5: 120,663,764	T256I	probably benign	Het
Rexo5	T	A	7: 119,823,779	I278N	probably damaging	Het
Rims2	T	A	15: 39,437,103	S77T	probably damaging	Het
Sdk2	C	T	11: 113,850,982	A804T	probably benign	Het
Slc24a2	T	A	4: 86,996,634	I589F	probably benign	Het
Slc25a38	T	A	9: 120,122,115	I217K	probably benign	Het
Slc5a7	T	C	17: 54,276,676	T529A	probably benign	Het
Spata22	T	A	11: 73,336,208	S83T	probably damaging	Het
Stac2	A	T	11: 98,043,498	C127S	possibly damaging	Het
Tep1	T	C	14: 50,824,802	H2531R	probably benign	Het
Tmem151a	G	T	19: 5,082,033	R382S	probably damaging	Het
Trim60	T	C	8: 65,000,524	T358A	probably benign	Het
Unc13c	T	A	9: 73,757,954	M1048L	probably benign	Het
Usp29	T	C	7: 6,962,075	S306P	probably damaging	Het
Zfp26	T	C	9: 20,444,907	K35R	probably benign	Het
Zfp462	T	A	4: 55,016,986		probably null	Het

Other mutations in AA986860

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:AA986860	APN	1	130742836	missense	possibly damaging	0.69
IGL01761:AA986860	APN	1	130742722	missense	possibly damaging	0.70
IGL02557:AA986860	APN	1	130742707	missense	probably benign	0.02
IGL03003:AA986860	APN	1	130743772	missense	probably damaging	1.00
IGL02802:AA986860	UTSW	1	130743393	missense	probably benign	0.00
R0326:AA986860	UTSW	1	130742898	missense	possibly damaging	0.87
R0483:AA986860	UTSW	1	130743825	missense	probably damaging	1.00
R0906:AA986860	UTSW	1	130737693	splice site	probably benign
R0932:AA986860	UTSW	1	130737693	splice site	probably null
R1522:AA986860	UTSW	1	130743094	missense	probably damaging	1.00
R1762:AA986860	UTSW	1	130737688	critical splice donor site	probably null
R1874:AA986860	UTSW	1	130742691	missense	probably benign	0.06
R2083:AA986860	UTSW	1	130741069	missense	probably damaging	1.00
R2091:AA986860	UTSW	1	130743169	missense	probably benign	0.01
R2093:AA986860	UTSW	1	130743304	missense	probably benign	0.13
R3546:AA986860	UTSW	1	130741189	splice site	probably benign
R3915:AA986860	UTSW	1	130742607	missense	probably benign
R4679:AA986860	UTSW	1	130742403	missense	possibly damaging	0.67
R4703:AA986860	UTSW	1	130743355	missense	probably benign	0.19
R4890:AA986860	UTSW	1	130740988	splice site	probably benign
R4988:AA986860	UTSW	1	130742710	missense	probably damaging	1.00
R5327:AA986860	UTSW	1	130741003	missense	probably damaging	1.00
R5424:AA986860	UTSW	1	130742941	missense	probably damaging	1.00
R5763:AA986860	UTSW	1	130743031	missense	possibly damaging	0.53
R5799:AA986860	UTSW	1	130741171	nonsense	probably null
R6247:AA986860	UTSW	1	130743043	missense	possibly damaging	0.78
R7124:AA986860	UTSW	1	130742887	missense	possibly damaging	0.67
R7747:AA986860	UTSW	1	130743547	missense	possibly damaging	0.60
Z1176:AA986860	UTSW	1	130742991	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